WorldWideScience

Sample records for human height variation

  1. Evolutionary perspectives on human height variation

    NARCIS (Netherlands)

    Stulp, Gert; Barrett, Louise

    Human height is a highly variable trait, both within and between populations, has a high heritability, and influences the manner in which people behave and are treated in society. Although we know much about human height, this information has rarely been brought together in a comprehensive,

  2. Apparent Transition in the Human Height Distribution Caused by Age-Dependent Variation during Puberty Period

    Science.gov (United States)

    Iwata, Takaki; Yamazaki, Yoshihiro; Kuninaka, Hiroto

    2013-08-01

    In this study, we examine the validity of the transition of the human height distribution from the log-normal distribution to the normal distribution during puberty, as suggested in an earlier study [Kuninaka et al.: J. Phys. Soc. Jpn. 78 (2009) 125001]. Our data analysis reveals that, in late puberty, the variation in height decreases as children grow. Thus, the classification of a height dataset by age at this stage leads us to analyze a mixture of distributions with larger means and smaller variations. This mixture distribution has a negative skewness and is consequently closer to the normal distribution than to the log-normal distribution. The opposite case occurs in early puberty and the mixture distribution is positively skewed, which resembles the log-normal distribution rather than the normal distribution. Thus, this scenario mimics the transition during puberty. Additionally, our scenario is realized through a numerical simulation based on a statistical model. The present study does not support the transition suggested by the earlier study.

  3. Defining the role of common variation in the genomic and biological architecture of adult human height.

    Science.gov (United States)

    Wood, Andrew R; Esko, Tonu; Yang, Jian; Vedantam, Sailaja; Pers, Tune H; Gustafsson, Stefan; Chu, Audrey Y; Estrada, Karol; Luan, Jian'an; Kutalik, Zoltán; Amin, Najaf; Buchkovich, Martin L; Croteau-Chonka, Damien C; Day, Felix R; Duan, Yanan; Fall, Tove; Fehrmann, Rudolf; Ferreira, Teresa; Jackson, Anne U; Karjalainen, Juha; Lo, Ken Sin; Locke, Adam E; Mägi, Reedik; Mihailov, Evelin; Porcu, Eleonora; Randall, Joshua C; Scherag, André; Vinkhuyzen, Anna A E; Westra, Harm-Jan; Winkler, Thomas W; Workalemahu, Tsegaselassie; Zhao, Jing Hua; Absher, Devin; Albrecht, Eva; Anderson, Denise; Baron, Jeffrey; Beekman, Marian; Demirkan, Ayse; Ehret, Georg B; Feenstra, Bjarke; Feitosa, Mary F; Fischer, Krista; Fraser, Ross M; Goel, Anuj; Gong, Jian; Justice, Anne E; Kanoni, Stavroula; Kleber, Marcus E; Kristiansson, Kati; Lim, Unhee; Lotay, Vaneet; Lui, Julian C; Mangino, Massimo; Mateo Leach, Irene; Medina-Gomez, Carolina; Nalls, Michael A; Nyholt, Dale R; Palmer, Cameron D; Pasko, Dorota; Pechlivanis, Sonali; Prokopenko, Inga; Ried, Janina S; Ripke, Stephan; Shungin, Dmitry; Stancáková, Alena; Strawbridge, Rona J; Sung, Yun Ju; Tanaka, Toshiko; Teumer, Alexander; Trompet, Stella; van der Laan, Sander W; van Setten, Jessica; Van Vliet-Ostaptchouk, Jana V; Wang, Zhaoming; Yengo, Loïc; Zhang, Weihua; Afzal, Uzma; Arnlöv, Johan; Arscott, Gillian M; Bandinelli, Stefania; Barrett, Amy; Bellis, Claire; Bennett, Amanda J; Berne, Christian; Blüher, Matthias; Bolton, Jennifer L; Böttcher, Yvonne; Boyd, Heather A; Bruinenberg, Marcel; Buckley, Brendan M; Buyske, Steven; Caspersen, Ida H; Chines, Peter S; Clarke, Robert; Claudi-Boehm, Simone; Cooper, Matthew; Daw, E Warwick; De Jong, Pim A; Deelen, Joris; Delgado, Graciela; Denny, Josh C; Dhonukshe-Rutten, Rosalie; Dimitriou, Maria; Doney, Alex S F; Dörr, Marcus; Eklund, Niina; Eury, Elodie; Folkersen, Lasse; Garcia, Melissa E; Geller, Frank; Giedraitis, Vilmantas; Go, Alan S; Grallert, Harald; Grammer, Tanja B; Gräßler, Jürgen; Grönberg, Henrik; de Groot, Lisette C P G M; Groves, Christopher J; Haessler, Jeffrey; Hall, Per; Haller, Toomas; Hallmans, Goran; Hannemann, Anke; Hartman, Catharina A; Hassinen, Maija; Hayward, Caroline; Heard-Costa, Nancy L; Helmer, Quinta; Hemani, Gibran; Henders, Anjali K; Hillege, Hans L; Hlatky, Mark A; Hoffmann, Wolfgang; Hoffmann, Per; Holmen, Oddgeir; Houwing-Duistermaat, Jeanine J; Illig, Thomas; Isaacs, Aaron; James, Alan L; Jeff, Janina; Johansen, Berit; Johansson, Åsa; Jolley, Jennifer; Juliusdottir, Thorhildur; Junttila, Juhani; Kho, Abel N; Kinnunen, Leena; Klopp, Norman; Kocher, Thomas; Kratzer, Wolfgang; Lichtner, Peter; Lind, Lars; Lindström, Jaana; Lobbens, Stéphane; Lorentzon, Mattias; Lu, Yingchang; Lyssenko, Valeriya; Magnusson, Patrik K E; Mahajan, Anubha; Maillard, Marc; McArdle, Wendy L; McKenzie, Colin A; McLachlan, Stela; McLaren, Paul J; Menni, Cristina; Merger, Sigrun; Milani, Lili; Moayyeri, Alireza; Monda, Keri L; Morken, Mario A; Müller, Gabriele; Müller-Nurasyid, Martina; Musk, Arthur W; Narisu, Narisu; Nauck, Matthias; Nolte, Ilja M; Nöthen, Markus M; Oozageer, Laticia; Pilz, Stefan; Rayner, Nigel W; Renstrom, Frida; Robertson, Neil R; Rose, Lynda M; Roussel, Ronan; Sanna, Serena; Scharnagl, Hubert; Scholtens, Salome; Schumacher, Fredrick R; Schunkert, Heribert; Scott, Robert A; Sehmi, Joban; Seufferlein, Thomas; Shi, Jianxin; Silventoinen, Karri; Smit, Johannes H; Smith, Albert Vernon; Smolonska, Joanna; Stanton, Alice V; Stirrups, Kathleen; Stott, David J; Stringham, Heather M; Sundström, Johan; Swertz, Morris A; Syvänen, Ann-Christine; Tayo, Bamidele O; Thorleifsson, Gudmar; Tyrer, Jonathan P; van Dijk, Suzanne; van Schoor, Natasja M; van der Velde, Nathalie; van Heemst, Diana; van Oort, Floor V A; Vermeulen, Sita H; Verweij, Niek; Vonk, Judith M; Waite, Lindsay L; Waldenberger, Melanie; Wennauer, Roman; Wilkens, Lynne R; Willenborg, Christina; Wilsgaard, Tom; Wojczynski, Mary K; Wong, Andrew; Wright, Alan F; Zhang, Qunyuan; Arveiler, Dominique; Bakker, Stephan J L; Beilby, John; Bergman, Richard N; Bergmann, Sven; Biffar, Reiner; Blangero, John; Boomsma, Dorret I; Bornstein, Stefan R; Bovet, Pascal; Brambilla, Paolo; Brown, Morris J; Campbell, Harry; Caulfield, Mark J; Chakravarti, Aravinda; Collins, Rory; Collins, Francis S; Crawford, Dana C; Cupples, L Adrienne; Danesh, John; de Faire, Ulf; den Ruijter, Hester M; Erbel, Raimund; Erdmann, Jeanette; Eriksson, Johan G; Farrall, Martin; Ferrannini, Ele; Ferrières, Jean; Ford, Ian; Forouhi, Nita G; Forrester, Terrence; Gansevoort, Ron T; Gejman, Pablo V; Gieger, Christian; Golay, Alain; Gottesman, Omri; Gudnason, Vilmundur; Gyllensten, Ulf; Haas, David W; Hall, Alistair S; Harris, Tamara B; Hattersley, Andrew T; Heath, Andrew C; Hengstenberg, Christian; Hicks, Andrew A; Hindorff, Lucia A; Hingorani, Aroon D; Hofman, Albert; Hovingh, G Kees; Humphries, Steve E; Hunt, Steven C; Hypponen, Elina; Jacobs, Kevin B; Jarvelin, Marjo-Riitta; Jousilahti, Pekka; Jula, Antti M; Kaprio, Jaakko; Kastelein, John J P; Kayser, Manfred; Kee, Frank; Keinanen-Kiukaanniemi, Sirkka M; Kiemeney, Lambertus A; Kooner, Jaspal S; Kooperberg, Charles; Koskinen, Seppo; Kovacs, Peter; Kraja, Aldi T; Kumari, Meena; Kuusisto, Johanna; Lakka, Timo A; Langenberg, Claudia; Le Marchand, Loic; Lehtimäki, Terho; Lupoli, Sara; Madden, Pamela A F; Männistö, Satu; Manunta, Paolo; Marette, André; Matise, Tara C; McKnight, Barbara; Meitinger, Thomas; Moll, Frans L; Montgomery, Grant W; Morris, Andrew D; Morris, Andrew P; Murray, Jeffrey C; Nelis, Mari; Ohlsson, Claes; Oldehinkel, Albertine J; Ong, Ken K; Ouwehand, Willem H; Pasterkamp, Gerard; Peters, Annette; Pramstaller, Peter P; Price, Jackie F; Qi, Lu; Raitakari, Olli T; Rankinen, Tuomo; Rao, D C; Rice, Treva K; Ritchie, Marylyn; Rudan, Igor; Salomaa, Veikko; Samani, Nilesh J; Saramies, Jouko; Sarzynski, Mark A; Schwarz, Peter E H; Sebert, Sylvain; Sever, Peter; Shuldiner, Alan R; Sinisalo, Juha; Steinthorsdottir, Valgerdur; Stolk, Ronald P; Tardif, Jean-Claude; Tönjes, Anke; Tremblay, Angelo; Tremoli, Elena; Virtamo, Jarmo; Vohl, Marie-Claude; Amouyel, Philippe; Asselbergs, Folkert W; Assimes, Themistocles L; Bochud, Murielle; Boehm, Bernhard O; Boerwinkle, Eric; Bottinger, Erwin P; Bouchard, Claude; Cauchi, Stéphane; Chambers, John C; Chanock, Stephen J; Cooper, Richard S; de Bakker, Paul I W; Dedoussis, George; Ferrucci, Luigi; Franks, Paul W; Froguel, Philippe; Groop, Leif C; Haiman, Christopher A; Hamsten, Anders; Hayes, M Geoffrey; Hui, Jennie; Hunter, David J; Hveem, Kristian; Jukema, J Wouter; Kaplan, Robert C; Kivimaki, Mika; Kuh, Diana; Laakso, Markku; Liu, Yongmei; Martin, Nicholas G; März, Winfried; Melbye, Mads; Moebus, Susanne; Munroe, Patricia B; Njølstad, Inger; Oostra, Ben A; Palmer, Colin N A; Pedersen, Nancy L; Perola, Markus; Pérusse, Louis; Peters, Ulrike; Powell, Joseph E; Power, Chris; Quertermous, Thomas; Rauramaa, Rainer; Reinmaa, Eva; Ridker, Paul M; Rivadeneira, Fernando; Rotter, Jerome I; Saaristo, Timo E; Saleheen, Danish; Schlessinger, David; Slagboom, P Eline; Snieder, Harold; Spector, Tim D; Strauch, Konstantin; Stumvoll, Michael; Tuomilehto, Jaakko; Uusitupa, Matti; van der Harst, Pim; Völzke, Henry; Walker, Mark; Wareham, Nicholas J; Watkins, Hugh; Wichmann, H-Erich; Wilson, James F; Zanen, Pieter; Deloukas, Panos; Heid, Iris M; Lindgren, Cecilia M; Mohlke, Karen L; Speliotes, Elizabeth K; Thorsteinsdottir, Unnur; Barroso, Inês; Fox, Caroline S; North, Kari E; Strachan, David P; Beckmann, Jacques S; Berndt, Sonja I; Boehnke, Michael; Borecki, Ingrid B; McCarthy, Mark I; Metspalu, Andres; Stefansson, Kari; Uitterlinden, André G; van Duijn, Cornelia M; Franke, Lude; Willer, Cristen J; Price, Alkes L; Lettre, Guillaume; Loos, Ruth J F; Weedon, Michael N; Ingelsson, Erik; O'Connell, Jeffrey R; Abecasis, Goncalo R; Chasman, Daniel I; Goddard, Michael E; Visscher, Peter M; Hirschhorn, Joel N; Frayling, Timothy M

    2014-11-01

    Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explained one-fifth of the heritability for adult height. By testing different numbers of variants in independent studies, we show that the most strongly associated ∼2,000, ∼3,700 and ∼9,500 SNPs explained ∼21%, ∼24% and ∼29% of phenotypic variance. Furthermore, all common variants together captured 60% of heritability. The 697 variants clustered in 423 loci were enriched for genes, pathways and tissue types known to be involved in growth and together implicated genes and pathways not highlighted in earlier efforts, such as signaling by fibroblast growth factors, WNT/β-catenin and chondroitin sulfate-related genes. We identified several genes and pathways not previously connected with human skeletal growth, including mTOR, osteoglycin and binding of hyaluronic acid. Our results indicate a genetic architecture for human height that is characterized by a very large but finite number (thousands) of causal variants.

  4. Defining the role of common variation in the genomic and biological architecture of adult human height

    Science.gov (United States)

    Chu, Audrey Y; Estrada, Karol; Luan, Jian’an; Kutalik, Zoltán; Amin, Najaf; Buchkovich, Martin L; Croteau-Chonka, Damien C; Day, Felix R; Duan, Yanan; Fall, Tove; Fehrmann, Rudolf; Ferreira, Teresa; Jackson, Anne U; Karjalainen, Juha; Lo, Ken Sin; Locke, Adam E; Mägi, Reedik; Mihailov, Evelin; Porcu, Eleonora; Randall, Joshua C; Scherag, André; Vinkhuyzen, Anna AE; Westra, Harm-Jan; Winkler, Thomas W; Workalemahu, Tsegaselassie; Zhao, Jing Hua; Absher, Devin; Albrecht, Eva; Anderson, Denise; Baron, Jeffrey; Beekman, Marian; Demirkan, Ayse; Ehret, Georg B; Feenstra, Bjarke; Feitosa, Mary F; Fischer, Krista; Fraser, Ross M; Goel, Anuj; Gong, Jian; Justice, Anne E; Kanoni, Stavroula; Kleber, Marcus E; Kristiansson, Kati; Lim, Unhee; Lotay, Vaneet; Lui, Julian C; Mangino, Massimo; Leach, Irene Mateo; Medina-Gomez, Carolina; Nalls, Michael A; Nyholt, Dale R; Palmer, Cameron D; Pasko, Dorota; Pechlivanis, Sonali; Prokopenko, Inga; Ried, Janina S; Ripke, Stephan; Shungin, Dmitry; Stancáková, Alena; Strawbridge, Rona J; Sung, Yun Ju; Tanaka, Toshiko; Teumer, Alexander; Trompet, Stella; van der Laan, Sander W; van Setten, Jessica; Van Vliet-Ostaptchouk, Jana V; Wang, Zhaoming; Yengo, Loïc; Zhang, Weihua; Afzal, Uzma; Ärnlöv, Johan; Arscott, Gillian M; Bandinelli, Stefania; Barrett, Amy; Bellis, Claire; Bennett, Amanda J; Berne, Christian; Blüher, Matthias; Bolton, Jennifer L; Böttcher, Yvonne; Boyd, Heather A; Bruinenberg, Marcel; Buckley, Brendan M; Buyske, Steven; Caspersen, Ida H; Chines, Peter S; Clarke, Robert; Claudi-Boehm, Simone; Cooper, Matthew; Daw, E Warwick; De Jong, Pim A; Deelen, Joris; Delgado, Graciela; Denny, Josh C; Dhonukshe-Rutten, Rosalie; Dimitriou, Maria; Doney, Alex SF; Dörr, Marcus; Eklund, Niina; Eury, Elodie; Folkersen, Lasse; Garcia, Melissa E; Geller, Frank; Giedraitis, Vilmantas; Go, Alan S; Grallert, Harald; Grammer, Tanja B; Gräßler, Jürgen; Grönberg, Henrik; de Groot, Lisette C.P.G.M.; Groves, Christopher J; Haessler, Jeffrey; Hall, Per; Haller, Toomas; Hallmans, Goran; Hannemann, Anke; Hartman, Catharina A; Hassinen, Maija; Hayward, Caroline; Heard-Costa, Nancy L; Helmer, Quinta; Hemani, Gibran; Henders, Anjali K; Hillege, Hans L; Hlatky, Mark A; Hoffmann, Wolfgang; Hoffmann, Per; Holmen, Oddgeir; Houwing-Duistermaat, Jeanine J; Illig, Thomas; Isaacs, Aaron; James, Alan L; Jeff, Janina; Johansen, Berit; Johansson, Åsa; Jolley, Jennifer; Juliusdottir, Thorhildur; Junttila, Juhani; Kho, Abel N; Kinnunen, Leena; Klopp, Norman; Kocher, Thomas; Kratzer, Wolfgang; Lichtner, Peter; Lind, Lars; Lindström, Jaana; Lobbens, Stéphane; Lorentzon, Mattias; Lu, Yingchang; Lyssenko, Valeriya; Magnusson, Patrik KE; Mahajan, Anubha; Maillard, Marc; McArdle, Wendy L; McKenzie, Colin A; McLachlan, Stela; McLaren, Paul J; Menni, Cristina; Merger, Sigrun; Milani, Lili; Moayyeri, Alireza; Monda, Keri L; Morken, Mario A; Müller, Gabriele; Müller-Nurasyid, Martina; Musk, Arthur W; Narisu, Narisu; Nauck, Matthias; Nolte, Ilja M; Nöthen, Markus M; Oozageer, Laticia; Pilz, Stefan; Rayner, Nigel W; Renstrom, Frida; Robertson, Neil R; Rose, Lynda M; Roussel, Ronan; Sanna, Serena; Scharnagl, Hubert; Scholtens, Salome; Schumacher, Fredrick R; Schunkert, Heribert; Scott, Robert A; Sehmi, Joban; Seufferlein, Thomas; Shi, Jianxin; Silventoinen, Karri; Smit, Johannes H; Smith, Albert Vernon; Smolonska, Joanna; Stanton, Alice V; Stirrups, Kathleen; Stott, David J; Stringham, Heather M; Sundström, Johan; Swertz, Morris A; Syvänen, Ann-Christine; Tayo, Bamidele O; Thorleifsson, Gudmar; Tyrer, Jonathan P; van Dijk, Suzanne; van Schoor, Natasja M; van der Velde, Nathalie; van Heemst, Diana; van Oort, Floor VA; Vermeulen, Sita H; Verweij, Niek; Vonk, Judith M; Waite, Lindsay L; Waldenberger, Melanie; Wennauer, Roman; Wilkens, Lynne R; Willenborg, Christina; Wilsgaard, Tom; Wojczynski, Mary K; Wong, Andrew; Wright, Alan F; Zhang, Qunyuan; Arveiler, Dominique; Bakker, Stephan JL; Beilby, John; Bergman, Richard N; Bergmann, Sven; Biffar, Reiner; Blangero, John; Boomsma, Dorret I; Bornstein, Stefan R; Bovet, Pascal; Brambilla, Paolo; Brown, Morris J; Campbell, Harry; Caulfield, Mark J; Chakravarti, Aravinda; Collins, Rory; Collins, Francis S; Crawford, Dana C; Cupples, L Adrienne; Danesh, John; de Faire, Ulf; den Ruijter, Hester M; Erbel, Raimund; Erdmann, Jeanette; Eriksson, Johan G; Farrall, Martin; Ferrannini, Ele; Ferrières, Jean; Ford, Ian; Forouhi, Nita G; Forrester, Terrence; Gansevoort, Ron T; Gejman, Pablo V; Gieger, Christian; Golay, Alain; Gottesman, Omri; Gudnason, Vilmundur; Gyllensten, Ulf; Haas, David W; Hall, Alistair S; Harris, Tamara B; Hattersley, Andrew T; Heath, Andrew C; Hengstenberg, Christian; Hicks, Andrew A; Hindorff, Lucia A; Hingorani, Aroon D; Hofman, Albert; Hovingh, G Kees; Humphries, Steve E; Hunt, Steven C; Hypponen, Elina; Jacobs, Kevin B; Jarvelin, Marjo-Riitta; Jousilahti, Pekka; Jula, Antti M; Kaprio, Jaakko; Kastelein, John JP; Kayser, Manfred; Kee, Frank; Keinanen-Kiukaanniemi, Sirkka M; Kiemeney, Lambertus A; Kooner, Jaspal S; Kooperberg, Charles; Koskinen, Seppo; Kovacs, Peter; Kraja, Aldi T; Kumari, Meena; Kuusisto, Johanna; Lakka, Timo A; Langenberg, Claudia; Le Marchand, Loic; Lehtimäki, Terho; Lupoli, Sara; Madden, Pamela AF; Männistö, Satu; Manunta, Paolo; Marette, André; Matise, Tara C; McKnight, Barbara; Meitinger, Thomas; Moll, Frans L; Montgomery, Grant W; Morris, Andrew D; Morris, Andrew P; Murray, Jeffrey C; Nelis, Mari; Ohlsson, Claes; Oldehinkel, Albertine J; Ong, Ken K; Ouwehand, Willem H; Pasterkamp, Gerard; Peters, Annette; Pramstaller, Peter P; Price, Jackie F; Qi, Lu; Raitakari, Olli T; Rankinen, Tuomo; Rao, DC; Rice, Treva K; Ritchie, Marylyn; Rudan, Igor; Salomaa, Veikko; Samani, Nilesh J; Saramies, Jouko; Sarzynski, Mark A; Schwarz, Peter EH; Sebert, Sylvain; Sever, Peter; Shuldiner, Alan R; Sinisalo, Juha; Steinthorsdottir, Valgerdur; Stolk, Ronald P; Tardif, Jean-Claude; Tönjes, Anke; Tremblay, Angelo; Tremoli, Elena; Virtamo, Jarmo; Vohl, Marie-Claude; Amouyel, Philippe; Asselbergs, Folkert W; Assimes, Themistocles L; Bochud, Murielle; Boehm, Bernhard O; Boerwinkle, Eric; Bottinger, Erwin P; Bouchard, Claude; Cauchi, Stéphane; Chambers, John C; Chanock, Stephen J; Cooper, Richard S; de Bakker, Paul IW; Dedoussis, George; Ferrucci, Luigi; Franks, Paul W; Froguel, Philippe; Groop, Leif C; Haiman, Christopher A; Hamsten, Anders; Hayes, M Geoffrey; Hui, Jennie; Hunter, David J.; Hveem, Kristian; Jukema, J Wouter; Kaplan, Robert C; Kivimaki, Mika; Kuh, Diana; Laakso, Markku; Liu, Yongmei; Martin, Nicholas G; März, Winfried; Melbye, Mads; Moebus, Susanne; Munroe, Patricia B; Njølstad, Inger; Oostra, Ben A; Palmer, Colin NA; Pedersen, Nancy L; Perola, Markus; Pérusse, Louis; Peters, Ulrike; Powell, Joseph E; Power, Chris; Quertermous, Thomas; Rauramaa, Rainer; Reinmaa, Eva; Ridker, Paul M; Rivadeneira, Fernando; Rotter, Jerome I; Saaristo, Timo E; Saleheen, Danish; Schlessinger, David; Slagboom, P Eline; Snieder, Harold; Spector, Tim D; Strauch, Konstantin; Stumvoll, Michael; Tuomilehto, Jaakko; Uusitupa, Matti; van der Harst, Pim; Völzke, Henry; Walker, Mark; Wareham, Nicholas J; Watkins, Hugh; Wichmann, H-Erich; Wilson, James F; Zanen, Pieter; Deloukas, Panos; Heid, Iris M; Lindgren, Cecilia M; Mohlke, Karen L; Speliotes, Elizabeth K; Thorsteinsdottir, Unnur; Barroso, Inês; Fox, Caroline S; North, Kari E; Strachan, David P; Beckmann, Jacques S.; Berndt, Sonja I; Boehnke, Michael; Borecki, Ingrid B; McCarthy, Mark I; Metspalu, Andres; Stefansson, Kari; Uitterlinden, André G; van Duijn, Cornelia M; Franke, Lude; Willer, Cristen J; Price, Alkes L.; Lettre, Guillaume; Loos, Ruth JF; Weedon, Michael N; Ingelsson, Erik; O’Connell, Jeffrey R; Abecasis, Goncalo R; Chasman, Daniel I; Goddard, Michael E

    2014-01-01

    Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explain one-fifth of heritability for adult height. By testing different numbers of variants in independent studies, we show that the most strongly associated ~2,000, ~3,700 and ~9,500 SNPs explained ~21%, ~24% and ~29% of phenotypic variance. Furthermore, all common variants together captured the majority (60%) of heritability. The 697 variants clustered in 423 loci enriched for genes, pathways, and tissue-types known to be involved in growth and together implicated genes and pathways not highlighted in earlier efforts, such as signaling by fibroblast growth factors, WNT/beta-catenin, and chondroitin sulfate-related genes. We identified several genes and pathways not previously connected with human skeletal growth, including mTOR, osteoglycin and binding of hyaluronic acid. Our results indicate a genetic architecture for human height that is characterized by a very large but finite number (thousands) of causal variants. PMID:25282103

  5. Defining the role of common variation in the genomic and biological architecture of adult human height

    NARCIS (Netherlands)

    A.R. Wood (Andrew); T. Esko (Tõnu); J. Yang (Jian); S. Vedantam (Sailaja); T.H. Pers (Tune); S. Gustafsson (Stefan); A.Y. Chu (Audrey Y); K. Estrada Gil (Karol); J. Luan; Z. Kutalik; N. Amin (Najaf); M.L. Buchkovich (Martin); D.C. Croteau-Chonka (Damien); F.R. Day (Felix); Y. Duan (Yanan); M. Fall (Magnus); R.S.N. Fehrmann (Rudolf); T. Ferreira (Teresa); A.U. Jackson (Anne); J. Karjalainen (Juha); K.S. Lo (Ken Sin); A. Locke (Adam); R. Mägi (Reedik); E. Mihailov (Evelin); E. Porcu (Eleonora); J.C. Randall (Joshua); A. Scherag (Andre); A.A.E. Vinkhuyzen (Anna A.); H.J. Westra (Harm-Jan); T.W. Winkler (Thomas W.); T. Workalemahu (Tsegaselassie); J.H. Zhao (Jing Hua); D. Absher (Devin); E. Albrecht (Eva); J. Baron (Jeffrey); M. Beekman (Marian); A. Demirkan (Ayşe); G.B. Ehret (Georg); B. Feenstra; M.F. Feitosa (Mary Furlan); K. Fischer (Krista); R.M. Fraser (Ross); A. Goel (Anuj); J. Gong (Jian); A.E. Justice (Anne); S. Kanoni (Stavroula); M.E. Kleber (Marcus); K. Kristiansson (Kati); U. Lim (Unhee); V. Lotay (Vaneet); J.C. Lui (Julian C); M. Mangino (Massimo); I.M. Leach (Irene Mateo); M.C. Medina-Gomez (Carolina); M.A. Nalls (Michael); A.S. Dimas (Antigone); C. Palmer (Cameron); D. Pasko (Dorota); S. Pechlivanis (Sonali); I. Prokopenko (Inga); J.S. Ried (Janina); S. Ripke (Stephan); D. Shungin (Dmitry); A. Stancáková (Alena); R.J. Strawbridge (Rona); Y.J. Sung (Yun Ju); T. Tanaka (Toshiko); A. Teumer (Alexander); S. Trompet (Stella); S.W. Van Der Laan (Sander W.); J. van Setten (Jessica); J.V. van Vliet-Ostaptchouk (Jana); Z. Wang (Zhaoming); L. Yengo (Loic); W. Zhang (Weihua); U. Afzal (Uzma); J. Ärnlöv (Johan); G.M. Arscott (Gillian M.); S. Bandinelli (Stefania); A. Barrett (Angela); C. Bellis (Claire); A.J. Bennett (Amanda); C. Berne (Christian); M. Blüher (Matthias); J.L. Bolton (Jennifer); Y. Böttcher (Yvonne); H.A. Boyd; M. Bruinenberg (M.); B.M. Buckley (Brendan M.); S. Buyske (Steven); I.H. Caspersen (Ida H.); P.S. Chines (Peter); R. Clarke (Robert); S. Claudi-Boehm (Simone); M.N. Cooper (Matthew); E.W. Daw (E Warwick); P.A. De Jong (Pim A); J. Deelen (Joris); G. Delgado; J.C. Denny (Josh C); R.A.M. Dhonukshe-Rutten (Rosalie); M. Dimitriou (Maria); A.S.F. Doney (Alex); M. Dörr (Marcus); N. Eklund (Niina); E. Eury (Elodie); L. Folkersen (Lasse); M. Garcia (Melissa); F. Geller (Frank); V. Giedraitis (Vilmantas); A. Go (Attie); H. Grallert (Harald); T.B. Grammer (Tanja B); J. Gräßler (Jürgen); H. Grönberg (Henrik); L.C.P.G.M. de Groot (Lisette); C.J. Groves (Christopher J.); J. Haessler (Jeff); P. Hall (Per); T. Haller (Toomas); G. Hallmans (Göran); M. Hannemann (Mario); C.A. Hartman (Catharina); M. Hassinen (Maija); C. Hayward (Caroline); N.L. Heard-Costa (Nancy); Q. Helmer (Quinta); G. Hemani; A.K. Henders (Anjali); H.L. Hillege (Hans); M.A. Hlatky (Mark); W. Hoffmann (Wolfgang); P. Hoffmann (Per); O.L. Holmen (Oddgeir); J.J. Houwing-Duistermaat (Jeanine); T. Illig (Thomas); A. Isaacs (Aaron); A.L. James (Alan); J. Jeff (Janina); B. Johansen (Berit); A. Johansson (Åsa); G.J. Jolley (Jason); T. Juliusdottir (Thorhildur); M.J. Junttila (Juhani); M.M.L. Kho (Marcia); L. Kinnunen (Leena); N. Klopp (Norman); T. Kocher; W. Kratzer (Wolfgang); P. Lichtner (Peter); L. Lind (Lars); J. Lindström (Jaana); S. Lobbens (Stéphane); M. Lorentzon (Mattias); Y. Lu (Yingchang); V. Lyssenko (Valeriya); P.K. Magnusson (Patrik); A. Mahajan (Anubha); M. Maillard (Marc); W.L. McArdle (Wendy); C.A. McKenzie (Colin A.); S. McLachlan (Stela); P.J. McLaren (Paul J); C. Menni (Cristina); S. Merger (Sigrun); L. Milani (Lili); A. Moayyeri (Alireza); K.L. Monda (Keri); M.A. Morken (Mario); G. Müller (Gabriele); M. Müller-Nurasyid (Martina); A.W. Musk (Arthur); N. Narisu (Narisu); M. Nauck (Matthias); I.M. Nolte (Ilja M.); M.M. Nöthen (Markus); L. Oozageer (Laticia); S. Pilz (Stefan); N.W. Rayner (Nigel William); F. Renström (Frida); N.R. Robertson (Neil R.); L.M. Rose (Lynda M.); R. Roussel (Ronan); S. Sanna (Serena); H. Scharnagl (Hubert); S. Scholtens (Salome); F.R. Schumacher (Fredrick R); H. Schunkert (Heribert); R.A. Scott (Robert); J.S. Sehmi (Joban); T. Seufferlein (Thomas); J. Shi (Jianxin); K. Silventoinen (Karri); J.H. Smit (Johannes); G.D. Smith; J. Smolonska (Joanna); A. Stanton (Alice); K. Stirrups (Kathy); D.J. Stott (David J); H.M. Stringham (Heather); J. Sundstrom (Johan); M. Swertz (Morris); A.C. Syvanen; B. Tayo (Bamidele); G. Thorleifsson (Gudmar); J.P. Tyrer (Jonathan); S. Van Dijk (Suzanne); N.M. van Schoor (Natasja); N. van der Velde (Nathalie); D. van Heemst (Diana); F.V.A. Van Oort (Floor V A); S.H.H.M. Vermeulen (Sita); N. Verweij (Niek); J.M. Vonk (Judith M); L. Waite (Lindsay); M. Waldenberger (Melanie); R. Wennauer (Roman); L.R. Wilkens (Lynne R.); C. Willenborg (Christina); T. Wilsgaard (Tom); M.K. Wojczynski (Mary ); A. Wong (Andrew); A. Wright (Alan); Q. Zhang (Qunyuan); D. Arveiler (Dominique); S.J.L. Bakker (Stephan); J. Beilby (John); R.N. Bergman (Richard); S.M. Bergmann (Sven); R. Biffar; J. Blangero (John); D.I. Boomsma (Dorret); S.R. Bornstein (Stefan R.); P. Bovet (Pascal); P. Brambilla (Paolo); M.J. Brown (Morris); H. Campbell (Harry); M. Caulfield (Mark); A. Chakravarti (Aravinda); F.S. Collins (Francis); D.C. Crawford (Dana); L.A. Cupples (Adrienne); J. Danesh (John); U. de Faire (Ulf); H.M. den Ruijter (Hester ); R. Erbel (Raimund); J. Erdmann (Jeanette); J. Eriksson; M. Farrall (Martin); E. Ferrannini (Ele); J. Ferrieres (Jean); I. Ford; N.G. Forouhi (Nita); T. Forrester (Terrence); R.T. Gansevoort (Ron); P.V. Gejman (Pablo); C. Gieger (Christian); A. Golay (Alain); R.F. Gottesman (Rebecca); V. Gudnason (Vilmundur); U. Gyllensten (Ulf); D.W. Haas (David W); A.S. Hall (Alistair); T.B. Harris (Tamara); A.T. Hattersley (Andrew); A.C. Heath (Andrew C); C. Hengstenberg (Christian); A.A. Hicks (Andrew); L.A. Hindorff (Lucia A); A. Hingorani (Aroon); A. Hofman (Albert); G.K. Hovingh (Kees); S.E. Humphries (Steve E.); S.C. Hunt (Steven); E. Hypponen (Elina); K.B. Jacobs (Kevin); M.-R. Jarvelin (Marjo-Riitta); P. Jousilahti (Pekka); A. Jula (Antti); J. Kaprio (Jaakko); J.J.P. Kastelein (John); M.H. Kayser (Manfred); F. Kee (Frank); S. Keinanen-Kiukaanniemi (Sirkka); L.A.L.M. Kiemeney (Bart); J.S. Kooner (Jaspal S.); C. Kooperberg (Charles); S. Koskinen (Seppo); P. Kovacs (Peter); A. Kraja (Aldi); M. Kumari (Meena); J. Kuusisto (Johanna); T.A. Lakka (Timo); C. Langenberg (Claudia); L. Le Marchand (Loic); T. Lehtimäki (Terho); S. Lupoli (Sara); P.A. Madden; S. Männistö (Satu); P. Manunta (Paolo); A. Marette (Andre'); T.C. Matise (Tara C.); B. McKnight (Barbara); T. Meitinger (Thomas); F.L. Moll (Frans); G.W. Montgomery (Grant W.); A.D. Morris (Andrew); A.P. Morris (Andrew); J.C. Murray (Jeffrey); M. Nelis (Mari); C. Ohlsson (Claes); A.J. Oldehinkel (Albertine); K.K. Ong (Ken K.); W.H. Ouwehand (Willem); G. Pasterkamp (Gerard); A. Peters (Annette); P.P. Pramstaller (Peter Paul); J.F. Price (Jackie F.); L. Qi (Lu); O. Raitakari (Olli); T. Rankinen (Tuomo); D.C. Rao (Dabeeru C.); T.K. Rice (Treva K.); M.D. Ritchie (Marylyn D.); I. Rudan (Igor); V. Salomaa (Veikko); N.J. Samani (Nilesh); J. Saramies (Jouko); M.A. Sarzynski (Mark A.); P.E.H. Schwarz (Peter E. H.); S. Sebert (Sylvain); P. Sever (Peter); A.R. Shuldiner (Alan); J. Sinisalo (Juha); V. Steinthorsdottir (Valgerdur); R.P. Stolk; J.-C. Tardif (Jean-Claude); A. Tönjes (Anke); A. Tremblay (Angelo); E. Tremoli (Elena); J. Virtamo (Jarmo); M.-C. Vohl (Marie-Claude); P. Amouyel (Philippe); F.W. Asselbergs (Folkert W.); T.L. Assimes (Themistocles); M. Bochud (Murielle); B.O. Boehm (Bernhard); E.A. Boerwinkle (Eric); E.P. Bottinger (Erwin P.); C. Bouchard (Claude); S. Cauchi (Stéphane); J.C. Chambers (John C.); S.J. Chanock (Stephen); R.S. Cooper (Richard S.); P.I.W. de Bakker (Paul); G.V. Dedoussis (George); L. Ferrucci (Luigi); P.W. Franks; P. Froguel (Philippe); L. Groop (Leif); C.A. Haiman (Christopher); A. Hamsten (Anders); M.G. Hayes (M. Geoffrey); J. Hui (Jennie); D. Hunter (David); K. Hveem (Kristian); J.W. Jukema (Jan Wouter); R.C. Kaplan (Robert); M. Kivimaki (Mika); D. Kuh (Diana); M. Laakso (Markku); Y. Liu (YongMei); N.G. Martin (Nicholas); W. März (Winfried); M. Melbye (Mads); S. Moebus (Susanne); P. Munroe (Patricia); I. Njølstad (Inger); B.A. Oostra (Ben); C.N.A. Palmer (Colin); N.L. Pedersen (Nancy L.); M. Perola (Markus); L. Perusse (Louis); U. Peters (Ulrike); J.E. Powell (Joseph); C. Power (Christine); T. Quertermous (Thomas); R. Rauramaa (Rainer); E. Reinmaa (Eva); P.M. Ridker (Paul); F. Rivadeneira Ramirez (Fernando); J.I. Rotter (Jerome I.); T. Saaristo (Timo); D. Saleheen; D. Schlessinger (David); P.E. Slagboom (P Eline); H. Snieder (Harold); T.D. Spector (Timothy); K. Strauch (Konstantin); M. Stumvoll (Michael); J. Tuomilehto (Jaakko); M. Uusitupa (Matti); P. van der Harst (Pim); H. Völzke (Henry); M. Walker (Mark); N.J. Wareham (Nick); H. Watkins (Hugh); H.E. Wichmann (Heinz Erich); J.F. Wilson (James F); P. Zanen (Pieter); P. Deloukas (Panagiotis); I.M. Heid (Iris); C.M. Lindgren (Cecilia); K.L. Mohlke (Karen); E.K. Speliotes (Elizabeth); U. Thorsteinsdottir (Unnur); I.E. Barroso (Inês); C.S. Fox (Caroline S.); K.E. North (Kari); D.P. Strachan (David P.); J.S. Beckmann (Jacques); S.I. Berndt (Sonja); M. Boehnke (Michael); I.B. Borecki (Ingrid); M.I. McCarthy (Mark); A. Metspalu (Andres); J-A. Zwart (John-Anker); A.G. Uitterlinden (André); C.M. van Duijn (Cornelia); L. Franke (Lude); C.J. Willer (Cristen); A. Price (Alkes); G. Lettre (Guillaume); R.J.F. Loos (Ruth); M.N. Weedon (Michael); E. Ingelsson (Erik); J.R. O´Connell; G.R. Abecasis (Gonçalo); D.I. Chasman (Daniel); D. Anderson (Denise); M.E. Goddard (Michael); P.M. Visscher (Peter); J.N. Hirschhorn (Joel); T.M. Frayling (Timothy)

    2014-01-01

    textabstractUsing genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explained one-fifth of the heritability for adult height. By testing different numbers of variants in independent studies, we show that the most strongly associated

  6. Defining the role of common variation in the genomic and biological architecture of adult human height

    NARCIS (Netherlands)

    Wood, Andrew R.; Esko, Tonu; Yang, Jian; Vedantam, Sailaja; Pers, Tune H.; Gustafsson, Stefan; Chu, Audrey Y.; Estrada, Karol; Luan, Jian'an; Kutalik, Zoltán; Amin, Najaf; Buchkovich, Martin L.; Croteau-Chonka, Damien C.; Day, Felix R.; Duan, Yanan; Fall, Tove; Fehrmann, Rudolf; Ferreira, Teresa; Jackson, Anne U.; Karjalainen, Juha; Lo, Ken Sin; Locke, Adam E.; Mägi, Reedik; Mihailov, Evelin; Porcu, Eleonora; Randall, Joshua C.; Scherag, André; Vinkhuyzen, Anna A. E.; Westra, Harm-Jan; Winkler, Thomas W.; Workalemahu, Tsegaselassie; Zhao, Jing Hua; Absher, Devin; Albrecht, Eva; Anderson, Denise; Baron, Jeffrey; Beekman, Marian; Demirkan, Ayse; Ehret, Georg B.; Feenstra, Bjarke; Feitosa, Mary F.; Fischer, Krista; Fraser, Ross M.; Goel, Anuj; Gong, Jian; Justice, Anne E.; Kanoni, Stavroula; Kleber, Marcus E.; Kristiansson, Kati; Lim, Unhee; Lotay, Vaneet; Lui, Julian C.; Mangino, Massimo; Mateo Leach, Irene; Medina-Gomez, Carolina; Nalls, Michael A.; Nyholt, Dale R.; Palmer, Cameron D.; Pasko, Dorota; Pechlivanis, Sonali; Prokopenko, Inga; Ried, Janina S.; Ripke, Stephan; Shungin, Dmitry; Stancáková, Alena; Strawbridge, Rona J.; Sung, Yun Ju; Tanaka, Toshiko; Teumer, Alexander; Trompet, Stella; van der Laan, Sander W.; van Setten, Jessica; van Vliet-Ostaptchouk, Jana V.; Wang, Zhaoming; Yengo, Loïc; Zhang, Weihua; Afzal, Uzma; Arnlöv, Johan; Arscott, Gillian M.; Bandinelli, Stefania; Barrett, Amy; Bellis, Claire; Bennett, Amanda J.; Berne, Christian; Blüher, Matthias; Bolton, Jennifer L.; Böttcher, Yvonne; Boyd, Heather A.; Bruinenberg, Marcel; Buckley, Brendan M.; Buyske, Steven; Caspersen, Ida H.; Chines, Peter S.; Clarke, Robert; Claudi-Boehm, Simone; Cooper, Matthew; Daw, E. Warwick; de Jong, Pim A.; Deelen, Joris; Delgado, Graciela; Denny, Josh C.; Dhonukshe-Rutten, Rosalie; Dimitriou, Maria; Doney, Alex S. F.; Dörr, Marcus; Eklund, Niina; Eury, Elodie; Folkersen, Lasse; Garcia, Melissa E.; Geller, Frank; Giedraitis, Vilmantas; Go, Alan S.; Grallert, Harald; Grammer, Tanja B.; Gräßler, Jürgen; Grönberg, Henrik; de Groot, Lisette C. P. G. M.; Groves, Christopher J.; Haessler, Jeffrey; Hall, Per; Haller, Toomas; Hallmans, Goran; Hannemann, Anke; Hartman, Catharina A.; Hassinen, Maija; Hayward, Caroline; Heard-Costa, Nancy L.; Helmer, Quinta; Hemani, Gibran; Henders, Anjali K.; Hillege, Hans L.; Hlatky, Mark A.; Hoffmann, Wolfgang; Hoffmann, Per; Holmen, Oddgeir; Houwing-Duistermaat, Jeanine J.; Illig, Thomas; Isaacs, Aaron; James, Alan L.; Jeff, Janina; Johansen, Berit; Johansson, Åsa; Jolley, Jennifer; Juliusdottir, Thorhildur; Junttila, Juhani; Kho, Abel N.; Kinnunen, Leena; Klopp, Norman; Kocher, Thomas; Kratzer, Wolfgang; Lichtner, Peter; Lind, Lars; Lindström, Jaana; Lobbens, Stéphane; Lorentzon, Mattias; Lu, Yingchang; Lyssenko, Valeriya; Magnusson, Patrik K. E.; Mahajan, Anubha; Maillard, Marc; McArdle, Wendy L.; McKenzie, Colin A.; McLachlan, Stela; McLaren, Paul J.; Menni, Cristina; Merger, Sigrun; Milani, Lili; Moayyeri, Alireza; Monda, Keri L.; Morken, Mario A.; Müller, Gabriele; Müller-Nurasyid, Martina; Musk, Arthur W.; Narisu, Narisu; Nauck, Matthias; Nolte, Ilja M.; Nöthen, Markus M.; Oozageer, Laticia; Pilz, Stefan; Rayner, Nigel W.; Renstrom, Frida; Robertson, Neil R.; Rose, Lynda M.; Roussel, Ronan; Sanna, Serena; Scharnagl, Hubert; Scholtens, Salome; Schumacher, Fredrick R.; Schunkert, Heribert; Scott, Robert A.; Sehmi, Joban; Seufferlein, Thomas; Shi, Jianxin; Silventoinen, Karri; Smit, Johannes H.; Smith, Albert Vernon; Smolonska, Joanna; Stanton, Alice V.; Stirrups, Kathleen; Stott, David J.; Stringham, Heather M.; Sundström, Johan; Swertz, Morris A.; Syvänen, Ann-Christine; Tayo, Bamidele O.; Thorleifsson, Gudmar; Tyrer, Jonathan P.; van Dijk, Suzanne; van Schoor, Natasja M.; van der Velde, Nathalie; van Heemst, Diana; van Oort, Floor V. A.; Vermeulen, Sita H.; Verweij, Niek; Vonk, Judith M.; Waite, Lindsay L.; Waldenberger, Melanie; Wennauer, Roman; Wilkens, Lynne R.; Willenborg, Christina; Wilsgaard, Tom; Wojczynski, Mary K.; Wong, Andrew; Wright, Alan F.; Zhang, Qunyuan; Arveiler, Dominique; Bakker, Stephan J. L.; Beilby, John; Bergman, Richard N.; Bergmann, Sven; Biffar, Reiner; Blangero, John; Boomsma, Dorret I.; Bornstein, Stefan R.; Bovet, Pascal; Brambilla, Paolo; Brown, Morris J.; Campbell, Harry; Caulfield, Mark J.; Chakravarti, Aravinda; Collins, Rory; Collins, Francis S.; Crawford, Dana C.; Cupples, L. Adrienne; Danesh, John; de Faire, Ulf; den Ruijter, Hester M.; Erbel, Raimund; Erdmann, Jeanette; Eriksson, Johan G.; Farrall, Martin; Ferrannini, Ele; Ferrières, Jean; Ford, Ian; Forouhi, Nita G.; Forrester, Terrence; Gansevoort, Ron T.; Gejman, Pablo V.; Gieger, Christian; Golay, Alain; Gottesman, Omri; Gudnason, Vilmundur; Gyllensten, Ulf; Haas, David W.; Hall, Alistair S.; Harris, Tamara B.; Hattersley, Andrew T.; Heath, Andrew C.; Hengstenberg, Christian; Hicks, Andrew A.; Hindorff, Lucia A.; Hingorani, Aroon D.; Hofman, Albert; Hovingh, G. Kees; Humphries, Steve E.; Hunt, Steven C.; Hypponen, Elina; Jacobs, Kevin B.; Jarvelin, Marjo-Riitta; Jousilahti, Pekka; Jula, Antti M.; Kaprio, Jaakko; Kastelein, John J. P.; Kayser, Manfred; Kee, Frank; Keinanen-Kiukaanniemi, Sirkka M.; Kiemeney, Lambertus A.; Kooner, Jaspal S.; Kooperberg, Charles; Koskinen, Seppo; Kovacs, Peter; Kraja, Aldi T.; Kumari, Meena; Kuusisto, Johanna; Lakka, Timo A.; Langenberg, Claudia; Le Marchand, Loic; Lehtimäki, Terho; Lupoli, Sara; Madden, Pamela A. F.; Männistö, Satu; Manunta, Paolo; Marette, André; Matise, Tara C.; McKnight, Barbara; Meitinger, Thomas; Moll, Frans L.; Montgomery, Grant W.; Morris, Andrew D.; Morris, Andrew P.; Murray, Jeffrey C.; Nelis, Mari; Ohlsson, Claes; Oldehinkel, Albertine J.; Ong, Ken K.; Ouwehand, Willem H.; Pasterkamp, Gerard; Peters, Annette; Pramstaller, Peter P.; Price, Jackie F.; Qi, Lu; Raitakari, Olli T.; Rankinen, Tuomo; Rao, D. C.; Rice, Treva K.; Ritchie, Marylyn; Rudan, Igor; Salomaa, Veikko; Samani, Nilesh J.; Saramies, Jouko; Sarzynski, Mark A.; Schwarz, Peter E. H.; Sebert, Sylvain; Sever, Peter; Shuldiner, Alan R.; Sinisalo, Juha; Steinthorsdottir, Valgerdur; Stolk, Ronald P.; Tardif, Jean-Claude; Tönjes, Anke; Tremblay, Angelo; Tremoli, Elena; Virtamo, Jarmo; Vohl, Marie-Claude; Amouyel, Philippe; Asselbergs, Folkert W.; Assimes, Themistocles L.; Bochud, Murielle; Boehm, Bernhard O.; Boerwinkle, Eric; Bottinger, Erwin P.; Bouchard, Claude; Cauchi, Stéphane; Chambers, John C.; Chanock, Stephen J.; Cooper, Richard S.; de Bakker, Paul I. W.; Dedoussis, George; Ferrucci, Luigi; Franks, Paul W.; Froguel, Philippe; Groop, Leif C.; Haiman, Christopher A.; Hamsten, Anders; Hayes, M. Geoffrey; Hui, Jennie; Hunter, David J.; Hveem, Kristian; Jukema, J. Wouter; Kaplan, Robert C.; Kivimaki, Mika; Kuh, Diana; Laakso, Markku; Liu, Yongmei; Martin, Nicholas G.; März, Winfried; Melbye, Mads; Moebus, Susanne; Munroe, Patricia B.; Njølstad, Inger; Oostra, Ben A.; Palmer, Colin N. A.; Pedersen, Nancy L.; Perola, Markus; Pérusse, Louis; Peters, Ulrike; Powell, Joseph E.; Power, Chris; Quertermous, Thomas; Rauramaa, Rainer; Reinmaa, Eva; Ridker, Paul M.; Rivadeneira, Fernando; Rotter, Jerome I.; Saaristo, Timo E.; Saleheen, Danish; Schlessinger, David; Slagboom, P. Eline; Snieder, Harold; Spector, Tim D.; Strauch, Konstantin; Stumvoll, Michael; Tuomilehto, Jaakko; Uusitupa, Matti; van der Harst, Pim; Völzke, Henry; Walker, Mark; Wareham, Nicholas J.; Watkins, Hugh; Wichmann, H.-Erich; Wilson, James F.; Zanen, Pieter; Deloukas, Panos; Heid, Iris M.; Lindgren, Cecilia M.; Mohlke, Karen L.; Speliotes, Elizabeth K.; Thorsteinsdottir, Unnur; Barroso, Inês; Fox, Caroline S.; North, Kari E.; Strachan, David P.; Beckmann, Jacques S.; Berndt, Sonja I.; Boehnke, Michael; Borecki, Ingrid B.; McCarthy, Mark I.; Metspalu, Andres; Stefansson, Kari; Uitterlinden, André G.; van Duijn, Cornelia M.; Franke, Lude; Willer, Cristen J.; Price, Alkes L.; Lettre, Guillaume; Loos, Ruth J. F.; Weedon, Michael N.; Ingelsson, Erik; O'Connell, Jeffrey R.; Abecasis, Goncalo R.; Chasman, Daniel I.; Goddard, Michael E.; Visscher, Peter M.; Hirschhorn, Joel N.; Frayling, Timothy M.; McCarty, Catherine A.; Starren, Justin; Peissig, Peggy; Berg, Richard; Rasmussen, Luke; Linneman, James; Miller, Aaron; Choudary, Vidhu; Chen, Lin; Waudby, Carol; Kitchner, Terrie; Reeser, Jonathan; Fost, Norman; Wilke, Russell A.; Chisholm, Rex L.; Avila, Pedro C.; Greenland, Philip; Hayes, M. Geoff; Kho, Abel; Kibbe, Warren A.; Lemke, Amy A.; Lowe, William L.; Smith, Maureen E.; Wolf, Wendy A.; Pacheco, Jennifer A.; Thompson, William K.; Humowiecki, Joel; Law, May; Chute, Christopher; Kullo, Iftikar; Koenig, Barbara; de Andrade, Mariza; Bielinski, Suzette; Pathak, Jyotishman; Savova, Guergana; Wu, Joel; Henriksen, Joan; Ding, Keyue; Hart, Lacey; Palbicki, Jeremy; Larson, Eric B.; Newton, Katherine; Ludman, Evette; Spangler, Leslie; Hart, Gene; Carrell, David; Jarvik, Gail; Crane, Paul; Burke, Wylie; Fullerton, Stephanie Malia; Trinidad, Susan Brown; Carlson, Chris; Hutchinson, Fred; McDavid, Andrew; Roden, Dan M.; Clayton, Ellen; Haines, Jonathan L.; Masys, Daniel R.; Churchill, Larry R.; Cornfield, Daniel; Crawford, Dana; Darbar, Dawood; Denny, Joshua C.; Malin, Bradley A.; Ritchie, Marylyn D.; Schildcrout, Jonathan S.; Xu, Hua; Ramirez, Andrea Havens; Basford, Melissa; Pulley, Jill; Alizadeh, Behrooz Z.; de Boer, Rudolf A.; Boezen, H. Marike; van der Klauw, Melanie M.; Navis, Gerjan; Ormel, Johan; Postma, Dirkje S.; Rosmalen, Judith G. M.; Slaets, Joris P.; Wolffenbuttel, Bruce H. R.; Wijmenga, Cisca; Kathiresan, Sekar; Voight, Benjamin F.; Purcell, Shaun; Musunuru, Kiran; Ardissino, Diego; Mannucci, Pier M.; Anand, Sonia; Engert, James C.; Reilly, Muredach P.; Rader, Daniel J.; Morgan, Thomas; Spertus, John A.; Stoll, Monika; Girelli, Domenico; McKeown, Pascal P.; Patterson, Chris C.; Siscovick, David S.; O'Donnell, Christopher J.; Elosua, Roberto; Peltonen, Leena; Schwartz, Stephen M.; Melander, Olle; Altshuler, David; Merlini, Pier Angelica; Berzuini, Carlo; Bernardinelli, Luisa; Peyvandi, Flora; Tubaro, Marco; Celli, Patrizia; Ferrario, Maurizio; Fetiveau, Raffaela; Marziliano, Nicola; Casari, Giorgio; Galli, Michele; Ribichini, Flavio; Rossi, Marco; Bernardi, Francesco; Zonzin, Pietro; Piazza, Alberto; Yee, Jean; Friedlander, Yechiel; Marrugat, Jaume; Lucas, Gavin; Subirana, Isaac; Sala, Joan; Ramos, Rafael; Meigs, James B.; Williams, Gordon; Nathan, David M.; MacRae, Calum A.; Havulinna, Aki S.; Berglund, Goran; Asselta, Rosanna; Duga, Stefano; Spreafico, Marta; Daly, Mark J.; Nemesh, James; Korn, Joshua M.; McCarroll, Steven A.; Surti, Aarti; Guiducci, Candace; Gianniny, Lauren; Mirel, Daniel; Parkin, Melissa; Burtt, Noel; Gabriel, Stacey B.; Thompson, John R.; Braund, Peter S.; Wright, Benjamin J.; Balmforth, Anthony J.; Ball, Stephen G.; Schunkert, I. Heribert; Linsel-Nitschke, Patrick; Lieb, Wolfgang; Ziegler, Andreas; König, Inke R.; Fischer, Marcus; Stark, Klaus; Grosshennig, Anika; Preuss, Michael; Schreiber, Stefan; Ouwehand, Willem; Scholz, Michael; Cambien, Francois; Goodall, Alison; Li, Mingyao; Chen, Zhen; Wilensky, Robert; Matthai, William; Qasim, Atif; Hakonarson, Hakon H.; Devaney, Joe; Burnett, Mary-Susan; Pichard, Augusto D.; Kent, Kenneth M.; Satler, Lowell; Lindsay, Joseph M.; Waksman, Ron; Knouff, Christopher W.; Waterworth, Dawn M.; Walker, Max C.; Mooser, Vincent; Epstein, Stephen E.; Scheffold, Thomas; Berger, Klaus; Huge, Andreas; Martinelli, Nicola; Olivieri, Oliviero; Corrocher, Roberto; Hólm, Hilma; Do, Ron; Xie, Changchun; Siscovick, David; Matise, Tara; Buyske, Steve; Higashio, Julia; Williams, Rasheeda; Nato, Andrew; Ambite, Jose Luis; Deelman, Ewa; Manolio, Teri; Hindorff, Lucia; Heiss, Gerardo; Taylor, Kira; Franceschini, Nora; Avery, Christy; Graff, Misa; Lin, Danyu; Quibrera, Miguel; Cochran, Barbara; Kao, Linda; Umans, Jason; Cole, Shelley; MacCluer, Jean; Person, Sharina; Pankow, James; Gross, Myron; Fornage, Myriam; Durda, Peter; Jenny, Nancy; Patsy, Bruce; Arnold, Alice; Buzkova, Petra; Haines, Jonathan; Murdock, Deborah; Glenn, Kim; Brown-Gentry, Kristin; Thornton-Wells, Tricia; Dumitrescu, Logan; Bush, William S.; Mitchell, Sabrina L.; Goodloe, Robert; Wilson, Sarah; Boston, Jonathan; Malinowski, Jennifer; Restrepo, Nicole; Oetjens, Matthew; Fowke, Jay; Zheng, Wei; Spencer, Kylee; Pendergrass, Sarah; Le Marchand, Loïc; Wilkens, Lynne; Park, Lani; Tiirikainen, Maarit; Kolonel, Laurence; Cheng, Iona; Wang, Hansong; Shohet, Ralph; Haiman, Christopher; Stram, Daniel; Henderson, Brian; Monroe, Kristine; Schumacher, Fredrick; Anderson, Garnet; Prentice, Ross; LaCroix, Andrea; Wu, Chunyuan; Carty, Cara; Rosse, Stephanie; Young, Alicia; Haessler, Jeff; Kocarnik, Jonathan; Lin, Yi; Jackson, Rebecca; Duggan, David; Kuller, Lew

    2014-01-01

    Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explained one-fifth of the heritability for adult height. By testing different numbers of variants in independent studies, we show that the most strongly associated ∼2,000, ∼3,700

  7. Defining the role of common variation in the genomic and biological architecture of adult human height

    DEFF Research Database (Denmark)

    Wood, Andrew R.; Esko, Tonu; Yang, Jian

    2014-01-01

    to be involved in growth and together implicated genes and pathways not highlighted in earlier efforts, such as signaling by fibroblast growth factors, WNT/beta-catenin and chondroitin sulfate-related genes. We identified several genes and pathways not previously connected with human skeletal growth, including mTOR...

  8. Evidence of inbreeding depression on human height

    NARCIS (Netherlands)

    R. McQuillan (Ruth); N. Eklund (Niina); N. Pirastu (Nicola); M. Kuningas (Maris); B.P. McEvoy (Brian); T. Esko (Tõnu); T. Corre (Tanguy); G. Davies (Gail); M. Kaakinen (Marika); L.-P. Lyytikäinen (Leo-Pekka); K. Kristiansson (Kati); A.S. Havulinna (Aki); M. Gögele (Martin); V. Vitart (Veronique); A. Tenesa (Albert); Y.S. Aulchenko (Yurii); C. Hayward (Caroline); A. Johansson (Åsa); M. Boban (Mladen); S. Ulivi (Shelia); A. Robino (Antonietta); V. Boraska (Vesna); W. Igl (Wilmar); S.H. Wild (Sarah); L. Zgaga (Lina); N. Amin (Najaf); E. Theodoratou (Evropi); O. Polasek (Ozren); S. Girotto; L.M. Lopez (Lorna); C. Sala (Cinzia); J. Lahti (Jari); T. Laatikainen (Tiina); I. Prokopenko (Inga); M. Kals (Mart); J. Viikari (Jorma); J. Yang (Joanna); A. Pouta (Anneli); K. Estrada Gil (Karol); A. Hofman (Albert); N.B. Freimer (Nelson); N.G. Martin (Nicholas); M. Kähönen (Mika); L. Milani (Lili); M. Heliovaara (Markku); E. Vartiainen (Erkki); K. Räikkönen (Katri); C. Masciullo (Corrado); J.M. Starr (John); A.A. Hicks (Andrew); L. Esposito (Laura); I. Kolcic (Ivana); S.M. Farrington (Susan); B.A. Oostra (Ben); T. Zemunik (Tatijana); H. Campbell (Harry); M. Kirin (Mirna); M. Pehlic (Marina); F. Faletra (Flavio); D.J. Porteous (David J.); G. Pistis (Giorgio); E. Widen (Elisabeth); V. Salomaa (Veikko); S. Koskinen (Seppo); K. Fischer (Krista); T. Lehtimäki (Terho); A.C. Heath (Andrew); M.I. McCarthy (Mark); F. Rivadeneira Ramirez (Fernando); G.W. Montgomery (Grant); H.W. Tiemeier (Henning); A.L. Hartikainen; P.A.F. Madden (Pamela); P. d' Adamo (Pio); N. Hastie (Nick); U. Gyllensten (Ulf); A.F. Wright (Alan); C.M. van Duijn (Cornelia); M.G. Dunlop (Malcolm); I. Rudan (Igor); P. Gasparini (Paolo); P.P. Pramstaller (Peter Paul); I.J. Deary (Ian); D. Toniolo (Daniela); K. Hagen (Knut); A. Jula (Antti); O. Raitakari (Olli); A. Metspalu (Andres); M. Perola (Markus); M.-R. Jarvelin (Marjo-Riitta); A.G. Uitterlinden (André); P.M. Visscher (Peter); J.F. Wilson (James)

    2012-01-01

    textabstractStature is a classical and highly heritable complex trait, with 80%-90% of variation explained by genetic factors. In recent years, genome-wide association studies (GWAS) have successfully identified many common additive variants influencing human height; however, little attention has

  9. Gravity and Height Variations at Medicina, Italy

    Science.gov (United States)

    Bruni, Sara; Zerbini, Susanna; Errico, Maddalena; Santi, Efisio; Wziontek, Hartmut

    2017-04-01

    Since 1996, at the Medicina station, height and gravity variations are monitored continuously by means of GPS, VLBI and superconducting gravimeter (SG) data. Additionally, absolute gravity observations are performed twice a year and environmental parameters, among others water table levels, are regularly acquired. Levelling between the different monuments at the site area is also carried out repeatedly to constrain local ties in the vertical position. Two GPS systems are located very close to each other, and both are in close proximity to the VLBI antenna. Twenty years of data are now available, which allow investigating both long- and short-period height and gravity signals together with their relevant correlations. Natural land subsidence, which is well known to occur in the area, is a major component of the observed long-term behavior; however, non-linear long-period signatures are also present in the time series. On a shorter time scale, fingerprints of the water table seasonal oscillations can be recognized in the data. The Medicina site is characterized by clayey soil subjected to consolidation effects when the water table lowers during summer periods. The pillar on which the SG is installed is especially affected because of its shallow foundation, causing height decreases in the order of 2.5-3 cm for water table lowering of 2 m. This study presents a comparative analysis of the different data sets with the aim of separating mass and deformation contributions in the SG gravity record.

  10. Evidence of inbreeding depression on human height.

    Directory of Open Access Journals (Sweden)

    Ruth McQuillan

    Full Text Available Stature is a classical and highly heritable complex trait, with 80%-90% of variation explained by genetic factors. In recent years, genome-wide association studies (GWAS have successfully identified many common additive variants influencing human height; however, little attention has been given to the potential role of recessive genetic effects. Here, we investigated genome-wide recessive effects by an analysis of inbreeding depression on adult height in over 35,000 people from 21 different population samples. We found a highly significant inverse association between height and genome-wide homozygosity, equivalent to a height reduction of up to 3 cm in the offspring of first cousins compared with the offspring of unrelated individuals, an effect which remained after controlling for the effects of socio-economic status, an important confounder (χ(2 = 83.89, df = 1; p = 5.2 × 10(-20. There was, however, a high degree of heterogeneity among populations: whereas the direction of the effect was consistent across most population samples, the effect size differed significantly among populations. It is likely that this reflects true biological heterogeneity: whether or not an effect can be observed will depend on both the variance in homozygosity in the population and the chance inheritance of individual recessive genotypes. These results predict that multiple, rare, recessive variants influence human height. Although this exploratory work focuses on height alone, the methodology developed is generally applicable to heritable quantitative traits (QT, paving the way for an investigation into inbreeding effects, and therefore genetic architecture, on a range of QT of biomedical importance.

  11. Genome-wide association study identified CNP12587 region underlying height variation in Chinese females.

    Directory of Open Access Journals (Sweden)

    Yin-Ping Zhang

    Full Text Available Human height is a highly heritable trait considered as an important factor for health. There has been limited success in identifying the genetic factors underlying height variation. We aim to identify sequence variants associated with adult height by a genome-wide association study of copy number variants (CNVs in Chinese.Genome-wide CNV association analyses were conducted in 1,625 unrelated Chinese adults and sex specific subgroup for height variation, respectively. Height was measured with a stadiometer. Affymetrix SNP6.0 genotyping platform was used to identify copy number polymorphisms (CNPs. We constructed a genomic map containing 1,009 CNPs in Chinese individuals and performed a genome-wide association study of CNPs with height.We detected 10 significant association signals for height (p<0.05 in the whole population, 9 and 11 association signals for Chinese female and male population, respectively. A copy number polymorphism (CNP12587, chr18:54081842-54086942, p = 2.41 × 10(-4 was found to be significantly associated with height variation in Chinese females even after strict Bonferroni correction (p = 0.048. Confirmatory real time PCR experiments lent further support for CNV validation. Compared to female subjects with two copies of the CNP, carriers of three copies had an average of 8.1% decrease in height. An important candidate gene, ubiquitin-protein ligase NEDD4-like (NEDD4L, was detected at this region, which plays important roles in bone metabolism by binding to bone formation regulators.Our findings suggest the important genetic variants underlying height variation in Chinese.

  12. HEIGHT VARIATION OF THE VECTOR MAGNETIC FIELD IN SOLAR SPICULES

    Energy Technology Data Exchange (ETDEWEB)

    Suárez, D. Orozco; Ramos, A. Asensio; Bueno, J. Trujillo, E-mail: dorozco@iac.es [Instituto de Astrofísica de Canarias, E-38205 La Laguna, Tenerife (Spain)

    2015-04-20

    Proving the magnetic configuration of solar spicules has hitherto been difficult due to the lack of spatial resolution and image stability during off-limb ground-based observations. We report spectropolarimetric observations of spicules taken in the He i 1083 nm spectral region with the Tenerife Infrared Polarimeter II at the German Vacuum Tower Telescope of the Observatorio del Teide (Tenerife, Canary Islands, Spain). The data provide the variation with geometrical height of the Stokes I, Q, U, and V profiles, whose encoded information allows the determination of the magnetic field vector by means of the HAZEL inversion code. The inferred results show that the average magnetic field strength at the base of solar spicules is about 80 gauss, and then it decreases rapidly with height to about 30 gauss at a height of 3000 km above the visible solar surface. Moreover, the magnetic field vector is close to vertical at the base of the chromosphere and has mid-inclinations (about 50°) above 2 Mm height.

  13. Predicting human height by Victorian and genomic methods.

    Science.gov (United States)

    Aulchenko, Yurii S; Struchalin, Maksim V; Belonogova, Nadezhda M; Axenovich, Tatiana I; Weedon, Michael N; Hofman, Albert; Uitterlinden, Andre G; Kayser, Manfred; Oostra, Ben A; van Duijn, Cornelia M; Janssens, A Cecile J W; Borodin, Pavel M

    2009-08-01

    In the Victorian era, Sir Francis Galton showed that 'when dealing with the transmission of stature from parents to children, the average height of the two parents, ... is all we need care to know about them' (1886). One hundred and twenty-two years after Galton's work was published, 54 loci showing strong statistical evidence for association to human height were described, providing us with potential genomic means of human height prediction. In a population-based study of 5748 people, we find that a 54-loci genomic profile explained 4-6% of the sex- and age-adjusted height variance, and had limited ability to discriminate tall/short people, as characterized by the area under the receiver-operating characteristic curve (AUC). In a family-based study of 550 people, with both parents having height measurements, we find that the Galtonian mid-parental prediction method explained 40% of the sex- and age-adjusted height variance, and showed high discriminative accuracy. We have also explored how much variance a genomic profile should explain to reach certain AUC values. For highly heritable traits such as height, we conclude that in applications in which parental phenotypic information is available (eg, medicine), the Victorian Galton's method will long stay unsurpassed, in terms of both discriminative accuracy and costs. For less heritable traits, and in situations in which parental information is not available (eg, forensics), genomic methods may provide an alternative, given that the variants determining an essential proportion of the trait's variation can be identified.

  14. Standardizing Scale Height Computation of Maven Ngims Neutral Data and Variations Between Exobase and Homeopause Scale Heights

    Science.gov (United States)

    Elrod, M. K.; Slipski, M.; Curry, S.; Williamson, H. N.; Benna, M.; Mahaffy, P. R.

    2017-12-01

    The MAVEN NGIMS team produces a level 3 product which includes the computation of Ar scale height an atmospheric temperatures at 200 km. In the latest version (v05_r01) this has been revised to include scale height fits for CO2, N2 O and CO. Members of the MAVEN team have used various methods to compute scale heights leading to significant variations in scale height values depending on fits and techniques within a few orbits even, occasionally, the same pass. Additionally fitting scale heights in a very stable atmosphere like the day side vs night side can have different results based on boundary conditions. Currently, most methods only compute Ar scale heights as it is most stable and reacts least with the instrument. The NGIMS team has chosen to expand these fitting techniques to include fitted scale heights for CO2, N2, CO, and O. Having compared multiple techniques, the method found to be most reliable for most conditions was determined to be a simple fit method. We have focused this to a fitting method that determines the exobase altidude of the CO2 atmosphere as a maximum altitude for the highest point for fitting, and uses the periapsis as the lowest point and then fits the altitude versus log(density). The slope of altitude vs log(density) is -1/H where H is the scale height of the atmosphere for each species. Since this is between the homeopause and the exobase, each species will have a different scale height by this point. This is being released as a new standardization for the level 3 product, with the understanding that scientists and team members will continue to compute more precise scale heights and temperatures as needed based on science and model demands. This is being released in the PDS NGIMS level 3 v05 files for August 2017. Additionally, we are examining these scale heights for variations seasonally, diurnally, and above and below the exobase. The atmosphere is significantly more stable on the dayside than on the nightside. We have also found

  15. Evolution of Human Body Height and Its Implications in Ergonomics

    Directory of Open Access Journals (Sweden)

    İzzet DUYAR

    2009-06-01

    Full Text Available Body height is an crucial variable in the design and production of all physical spaces, primarily in the manifacturing of clothes and means of transportation. Having such an ergonomic significance, the height of the human being has constantly changed during the course of history. There exist strong data suggesting that this change is still continue. To find out stages of evolution of human height throughout the ages up to the present will help us to illuminate the human-environment relations, and to predict the possible changes that the human height might be subjected to in the future. In view of these reasons, the changes that has occured in human height from the period at which hominids appeared until humans’ transition into settled life have been closely examined. The study was carried out on the basis of the data obtained from the earlier studies in literature. These data, when considered as a whole, reveal that the human height did not continuously increase in a linear fashion in its evolutionary path but recorded some increases and decreases at different stages. The difference between males and females (sexual dimorphism has not shown a steady decrease either; instead, it has exhibited an oscillating pattern. The modern humans as a species is not unique in terms of their height; as a matter of fact, two million years ago hominids had existed at approximately the same height as the Homo sapiens. Although the average height had shown some decrease in Homo erectus, its distribution pattern was not much different than the one observed in the modern human societies. In the findings dated to the early stages of the Upper Paleolithic Age, height showed a tendency to increase again

  16. Variation of boundary-layer wind spectra with height

    DEFF Research Database (Denmark)

    Larsén, Xiaoli Guo; Petersen, Erik L.; Larsen, Søren Ejling

    2018-01-01

    This study revisits the height dependence of the wind speed power spectrum from the synoptic scale to the spectral gap. Measurements from cup anemometers and sonics at heights of 15 m to 244 m are used. The measurements are from one land site, one coastal land‐based site and three offshore sites...... the atmospheric tide. The second finding regards the height dependence of the general spectrum. We describe the dependence through a so‐called effective roughness, which is calculated from wind spectra and represents the energy removal at different frequencies, and thus surface conditions in the footprint areas....... The generalizable spectral properties of winds presented herein may prove useful for validating numerical models....

  17. Many sequence variants affecting diversity of adult human height

    DEFF Research Database (Denmark)

    Gudbjartsson, Daniel F; Walters, G Bragi; Thorleifsson, Gudmar

    2008-01-01

    .3 and 0.6 cm and, taken together, they explain around 3.7% of the population variation in height. The genes neighboring the identified loci cluster in biological processes related to skeletal development and mitosis. Association to three previously reported loci are replicated in our analyses...

  18. Plantar Pressure Variation during Jogging with Different Heel Height

    Directory of Open Access Journals (Sweden)

    Y. D. Gu

    2013-01-01

    Full Text Available This paper presents the key testing and analysis results of an investigation on the effect of heel height on the plantar pressure over different foot areas in jogging. It is important in improving the understanding of jogging with high heels and damage/injury prevention. It can also potentially guide the development of suitable/adaptive exercise schemes in between daily activities with high heels. In this work, plantar pressure data were collected from 10 habituated healthy female subjects (aged 21–25 years at their natural jogging speed with three different conditions: flat heeled shoes (0.8 cm, low heeled shoes (4.0 cm, and high heeled shoes (6.6 cm. Data analysis showed significantly differences in plantar pressure distribution associated with the heel heights with increased pressure in the first metatarsal region and decreased pressure in the lateral metatarsal and midfoot sections. However, there is no significant alteration of plantar pressure in the central area of the forefoot with jogging gait.

  19. Genetic and environmental influences on adult human height across birth cohorts from 1886 to 1994

    DEFF Research Database (Denmark)

    Jelenkovic, Aline; Hur, Yoon-Mi; Sund, Reijo

    2016-01-01

    Human height variation is determined by genetic and environmental factors, but it remains unclear whether their influences differ across birth-year cohorts. We conducted an individual-based pooled analysis of 40 twin cohorts including 143,390 complete twin pairs born 1886-1994. Although genetic...

  20. Assortative mating for human height : A meta-analysis

    NARCIS (Netherlands)

    Stulp, Gert; Simons, Mirre J. P.; Grasman, Sara; Pollet, Thomas V.

    ObjectivesThe study of assortative mating for height has a rich history in human biology. Although the positive correlation between the stature of spouses has often been noted in western populations, recent papers suggest that mating patterns for stature are not universal. The objective of this

  1. Variations mechanism in entropy of wave height field and its relation with thermodynamic entropy

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    This paper gives a brief description of annual period and seasonal variation in the wave height field entropy in the northeastern Pacific. A calculation of the quantity of the, received by lithosphere systems in the northern hemisphere is introduced. The wave heat field entropy is compared with the difference in the quantity of the sun's radiation heat. Analysis on the transfer method, period and lag of this seasonal variation led to the conclusion that the annual period and seasonal variation in the entropy of the wave height field in the Northwestern Pacific is due to the seasonal variation of the sun's radiation heat. Furthermore, the inconsistency between thermodynamic entropy and information entropy was studied.

  2. An antithetic variate to facilitate upper-stem height measurements for critical height sampling with importance sampling

    Science.gov (United States)

    Thomas B. Lynch; Jeffrey H. Gove

    2013-01-01

    Critical height sampling (CHS) estimates cubic volume per unit area by multiplying the sum of critical heights measured on trees tallied in a horizontal point sample (HPS) by the HPS basal area factor. One of the barriers to practical application of CHS is the fact that trees near the field location of the point-sampling sample point have critical heights that occur...

  3. The study of height variation on outdoor ventilation for Singapore's high-rise residential housing estates

    OpenAIRE

    Rou Xuan Lee; Steve Kardinal Jusuf; Nyuk Hien Wong

    2015-01-01

    This article is concerned with external ventilation levels within a multi-story Housing and Development Board (HDB) residential estate, focusing toward a deeper understanding of wind flow with respect to different levels of height variation (HV). This study analyzed through parametric study, using numerical simulations with the realizable k – ε turbulence model, the various scenarios of HV within a typical residential HDB estate or precinct. It is found that external wind flow within the prec...

  4. Understanding human DNA sequence variation.

    Science.gov (United States)

    Kidd, K K; Pakstis, A J; Speed, W C; Kidd, J R

    2004-01-01

    Over the past century researchers have identified normal genetic variation and studied that variation in diverse human populations to determine the amounts and distributions of that variation. That information is being used to develop an understanding of the demographic histories of the different populations and the species as a whole, among other studies. With the advent of DNA-based markers in the last quarter century, these studies have accelerated. One of the challenges for the next century is to understand that variation. One component of that understanding will be population genetics. We present here examples of many of the ways these new data can be analyzed from a population perspective using results from our laboratory on multiple individual DNA-based polymorphisms, many clustered in haplotypes, studied in multiple populations representing all major geographic regions of the world. These data support an "out of Africa" hypothesis for human dispersal around the world and begin to refine the understanding of population structures and genetic relationships. We are also developing baseline information against which we can compare findings at different loci to aid in the identification of loci subject, now and in the past, to selection (directional or balancing). We do not yet have a comprehensive understanding of the extensive variation in the human genome, but some of that understanding is coming from population genetics.

  5. Computational study of the vortex path variation with the VG height

    Science.gov (United States)

    Fernández-Gámiz, U.; Zamorano, G.; Zulueta, E.

    2014-06-01

    An extensive range of conventional, vane-type, passive vortex generators (VGs) are in use for successful applications of flow separation control. In most cases, the VG height is designed with the same thickness as the local boundary layer at the VG position. However, in some applications, these conventional VGs may produce excess residual drag. The so-called low-profile VGs can reduce the parasitic drag associated to this kind of passive control devices. As suggested by many authors, low-profile VGs can provide enough momentum transfer over a region several times their own height for effective flow-separation control with much lower drag. The main objective of this work is to study the variation of the path and the development of the primary vortex generated by a rectangular VG mounted on a flat plate with five different device heights h = δ, h1 = 0.8δ, h2 = 0.6δ, h3 = 0.4δ and h4 = 0.25m, where 5 is the local boundary layer thickness. For this purpose, computational simulations have been carried out at Reynolds number Re = 1350 based on the height of the conventional VG h = 0.25m with the angle of attack of the vane to the oncoming flow β = 18.5°. The results show that the VG scaling significantly affects the vortex trajectory and the peak vorticity generated by the primary vortex.

  6. Computational study of the vortex path variation with the VG height

    International Nuclear Information System (INIS)

    Fernández-Gámiz, U; Zamorano, G; Zulueta, E

    2014-01-01

    An extensive range of conventional, vane-type, passive vortex generators (VGs) are in use for successful applications of flow separation control. In most cases, the VG height is designed with the same thickness as the local boundary layer at the VG position. However, in some applications, these conventional VGs may produce excess residual drag. The so-called low-profile VGs can reduce the parasitic drag associated to this kind of passive control devices. As suggested by many authors, low-profile VGs can provide enough momentum transfer over a region several times their own height for effective flow-separation control with much lower drag. The main objective of this work is to study the variation of the path and the development of the primary vortex generated by a rectangular VG mounted on a flat plate with five different device heights h = δ, h 1 = 0.8δ, h 2 = 0.6δ, h 3 = 0.4δ and h 4 = 0.25m, where 5 is the local boundary layer thickness. For this purpose, computational simulations have been carried out at Reynolds number Re = 1350 based on the height of the conventional VG h = 0.25m with the angle of attack of the vane to the oncoming flow β = 18.5°. The results show that the VG scaling significantly affects the vortex trajectory and the peak vorticity generated by the primary vortex

  7. Genetic and environmental influences on adult human height across birth cohorts from 1886 to 1994.

    Science.gov (United States)

    Jelenkovic, Aline; Hur, Yoon-Mi; Sund, Reijo; Yokoyama, Yoshie; Siribaddana, Sisira H; Hotopf, Matthew; Sumathipala, Athula; Rijsdijk, Fruhling; Tan, Qihua; Zhang, Dongfeng; Pang, Zengchang; Aaltonen, Sari; Heikkilä, Kauko; Öncel, Sevgi Y; Aliev, Fazil; Rebato, Esther; Tarnoki, Adam D; Tarnoki, David L; Christensen, Kaare; Skytthe, Axel; Kyvik, Kirsten O; Silberg, Judy L; Eaves, Lindon J; Maes, Hermine H; Cutler, Tessa L; Hopper, John L; Ordoñana, Juan R; Sánchez-Romera, Juan F; Colodro-Conde, Lucia; Cozen, Wendy; Hwang, Amie E; Mack, Thomas M; Sung, Joohon; Song, Yun-Mi; Yang, Sarah; Lee, Kayoung; Franz, Carol E; Kremen, William S; Lyons, Michael J; Busjahn, Andreas; Nelson, Tracy L; Whitfield, Keith E; Kandler, Christian; Jang, Kerry L; Gatz, Margaret; Butler, David A; Stazi, Maria A; Fagnani, Corrado; D'Ippolito, Cristina; Duncan, Glen E; Buchwald, Dedra; Derom, Catherine A; Vlietinck, Robert F; Loos, Ruth Jf; Martin, Nicholas G; Medland, Sarah E; Montgomery, Grant W; Jeong, Hoe-Uk; Swan, Gary E; Krasnow, Ruth; Magnusson, Patrik Ke; Pedersen, Nancy L; Dahl-Aslan, Anna K; McAdams, Tom A; Eley, Thalia C; Gregory, Alice M; Tynelius, Per; Baker, Laura A; Tuvblad, Catherine; Bayasgalan, Gombojav; Narandalai, Danshiitsoodol; Lichtenstein, Paul; Spector, Timothy D; Mangino, Massimo; Lachance, Genevieve; Bartels, Meike; van Beijsterveldt, Toos Cem; Willemsen, Gonneke; Burt, S Alexandra; Klump, Kelly L; Harris, Jennifer R; Brandt, Ingunn; Nilsen, Thomas Sevenius; Krueger, Robert F; McGue, Matt; Pahlen, Shandell; Corley, Robin P; Hjelmborg, Jacob V B; Goldberg, Jack H; Iwatani, Yoshinori; Watanabe, Mikio; Honda, Chika; Inui, Fujio; Rasmussen, Finn; Huibregtse, Brooke M; Boomsma, Dorret I; Sørensen, Thorkild I A; Kaprio, Jaakko; Silventoinen, Karri

    2016-12-14

    Human height variation is determined by genetic and environmental factors, but it remains unclear whether their influences differ across birth-year cohorts. We conducted an individual-based pooled analysis of 40 twin cohorts including 143,390 complete twin pairs born 1886-1994. Although genetic variance showed a generally increasing trend across the birth-year cohorts, heritability estimates (0.69-0.84 in men and 0.53-0.78 in women) did not present any clear pattern of secular changes. Comparing geographic-cultural regions (Europe, North America and Australia, and East Asia), total height variance was greatest in North America and Australia and lowest in East Asia, but no clear pattern in the heritability estimates across the birth-year cohorts emerged. Our findings do not support the hypothesis that heritability of height is lower in populations with low living standards than in affluent populations, nor that heritability of height will increase within a population as living standards improve.

  8. Object Detection and Tracking-Based Camera Calibration for Normalized Human Height Estimation

    Directory of Open Access Journals (Sweden)

    Jaehoon Jung

    2016-01-01

    Full Text Available This paper presents a normalized human height estimation algorithm using an uncalibrated camera. To estimate the normalized human height, the proposed algorithm detects a moving object and performs tracking-based automatic camera calibration. The proposed method consists of three steps: (i moving human detection and tracking, (ii automatic camera calibration, and (iii human height estimation and error correction. The proposed method automatically calibrates camera by detecting moving humans and estimates the human height using error correction. The proposed method can be applied to object-based video surveillance systems and digital forensic.

  9. A century of trends in adult human height

    DEFF Research Database (Denmark)

    Damsgaard, Camilla Trab; Michaelsen, Kim F.; Molbo, Drude

    2016-01-01

    the century of analysis. The tallest people over these 100 years are men born in the Netherlands in the last quarter of 20th century, whose average heights surpassed 182.5 cm, and the shortest were women born in Guatemala in 1896 (140.3 cm; 135.8-144.8). The height differential between the tallest...

  10. human pelvis height is associated with other pelvis measurements

    African Journals Online (AJOL)

    guyton2

    no study seeking to relate pelvis height to the other pelvis measurements of obstetric importance in Ugandans. In this paper we set out to answer the research question what are the associations between the various pelvis anthropometric measurements of obstetric importance with pelvis height in a sample of bones from the ...

  11. A century of trends in adult human height

    NARCIS (Netherlands)

    Bentham, J. (James); Di Cesare, M. (Mariachiara); Stevens, G.A. (Gretchen A.); Zhou, B. (Bin); Bixby, H. (Honor); Cowan, M. (Melanie); Fortunato, L. (Léa); Bennett, J.E. (James E.); G. Danaei (Goodarz); Hajifathalian, K. (Kaveh); Lu, Y. (Yuan); Riley, L.M. (Leanne M.); Laxmaiah, A. (Avula); Kontis, V. (Vasilis); Paciorek, C.J. (Christopher J.); M. Ezzati (Majid); Abdeen, Z.A. (Ziad A.); Hamid, Z.A. (Zargar Abdul); Abu-Rmeileh, N.M. (Niveen M.); Acosta-Cazares, B. (Benjamin); Adams, R. (Robert); Aekplakorn, W. (Wichai); C.A. Aguilar-Salinas (Carlos A.); C.O. Agyemang (Charles); Ahmadvand, A. (Alireza); W. Ahrens (W.); Al-Hazzaa, H.M. (Hazzaa M.); Al-Othman, A.R. (Amani Rashed); Raddadi, R.A. (Rajaa Al); Ali, M.M. (Mohamed M.); Alkerwi, A. (Ala’a); M. Alvarez-Pedrerol (Mar); Aly, E. (Eman); P. Amouyel (Philippe); A. Amuzu (Antoinette); Andersen, L.B. (Lars Bo); Anderssen, S.A. (Sigmund A.); Anjana, R.M. (Ranjit Mohan); Aounallah-Skhiri, H. (Hajer); Ariansen, I. (Inger); Aris, T. (Tahir); Arlappa, N. (Nimmathota); Arveiler, D. (Dominique); Assah, F.K. (Felix K.); Avdicová, M. (Mária); J. Azizi (Joshan); Babu, B.V. (Bontha V.); Bahijri, S. (Suhad); Balakrishna, N. (Nagalla); Bandosz, P. (Piotr); Banegas, J.R. (José R.); Barbagallo, C.M. (Carlo M.); Barceló, A. (Alberto); Barkat, A. (Amina); Barros, M.V. (Mauro V.); Bata, I. (Iqbal); Batieha, A.M. (Anwar M.); Batista, R.L. (Rosangela L.); Baur, L.A. (Louise A.); Beaglehole, R. (Robert); Romdhane, H.B. (Habiba Ben); Benet, M. (Mikhail); Bernabe-Ortiz, A. (Antonio); Bernotiene, G. (Gailute); Bettiol, H. (Heloisa); Bhagyalaxmi, A. (Aroor); Bharadwaj, S. (Sumit); Bhargava, S.K. (Santosh K.); Bhatti, Z. (Zaid); Z.A. Bhutta (Zulfiqar A); Bi, H. (Hongsheng); Bi, Y. (Yufang); Bjerregaard, P. (Peter); Bjertness, E. (Espen); Bjertness, M.B. (Marius B.); Björkelund, C. (Cecilia); Blokstra, A. (Anneke); Bo, S. (Simona); M. Bobak (Martin); Boddy, L.M. (Lynne M.); B.O. Boehm (Bernhard); H. Boeing (Heiner); Boissonnet, C.P. (Carlos P.); Bongard, V. (Vanina); P. Bovet (Pascal); Braeckman, L. (Lutgart); Bragt, M.C.E. (Marjolijn C. E.); Brajkovich, I. (Imperia); Branca, F. (Francesco); Breckenkamp, J. (Juergen); H. Brenner (Hermann); L.M. Brewster (Lizzy); Brian, G.R. (Garry R.); Bruno, G. (Graziella); Bueno-de-Mesquita, H.B. (H. Bas); Bugge, A. (Anna); Burns, C. (Con); De León, A.C. (Antonio Cabrera); Cacciottolo, J. (Joseph); Cama, T. (Tilema); Cameron, C. (Christine); Camolas, J. (José); G. Can (Günay); Cândido, A.P.C. (Ana Paula C.); Capuano, V. (Vincenzo); Cardoso, V.C. (Viviane C.); Carlsson, A.C. (Axel C.); Carvalho, M.J. (Maria J.); Casanueva, F.F. (Felipe F.); J.P. Casas (Juan Pablo); Caserta, C.A. (Carmelo A.); Chamukuttan, S. (Snehalatha); A.W.M. Chan (Angelique); Chan, Q. (Queenie); Chaturvedi, H.K. (Himanshu K.); Chaturvedi, N. (Nishi); Chen, C.-J. (Chien-Jen); Chen, F. (Fangfang); Chen, H. (Huashuai); Chen, S. (Shuohua); Chen, Z. (Zhengming); Cheng, C.-Y. (Ching-Yu); A. Chetrit (Angela); Chiolero, A. (Arnaud); Chiou, S.-T. (Shu-Ti); Chirita-Emandi, A. (Adela); Cho, B. (Belong); Cho, Y. (Yumi); Christensen, K. (Kaare); Chudek, J. (Jerzy); R. Cifkova (Renata); F. Claessens; E. Clays (Els); Concin, H. (Hans); C. Cooper (Charles); Cooper, R. (Rachel); Coppinger, T.C. (Tara C.); Costanzo, S. (Simona); D. Cottel (Dominique); Cowell, C. (Chris); Craig, C.L. (Cora L.); Crujeiras, A.B. (Ana B.); D’Arrigo, G. (Graziella); d’Orsi, E. (Eleonora); J. Dallongeville; Damasceno, A. (Albertino); Damsgaard, C.T. (Camilla T.); Dankner, R. (Rachel); Dauchet, L. (Luc); G. De Backer (Guy); D. De Bacquer (Dirk); de Gaetano, G. (Giovanni); De Henauw, S. (Stefaan); D. De Smedt (Delphine); Deepa, M. (Mohan); Deev, A.D. (Alexander D.); A. Dehghan (Abbas); Delisle, H. (Hélène); Delpeuch, F. (Francis); Deschamps, V. (Valérie); K. Dhana (Klodian); Di Castelnuovo, A.F. (Augusto F.); Dias-da-Costa, J.S. (Juvenal Soares); Diaz, A. (Alejandro); Djalalinia, S. (Shirin); Do, H.T.P. (Ha T. P.); Dobson, A.J. (Annette J.); C. Donfrancesco (Chiara); Donoso, S.P. (Silvana P.); A. Döring (Angela); Doua, K. (Kouamelan); Drygas, W. (Wojciech); Dzerve, V. (Vilnis); Egbagbe, E.E. (Eruke E.); Eggertsen, R. (Robert); U. Ekelund (Ulf); El Ati, J. (Jalila); P. Elliott (Paul); Engle-Stone, R. (Reina); Erasmus, R.T. (Rajiv T.); Erem, C. (Cihangir); Eriksen, L. (Louise); Escobedo-de la Peña, J. (Jorge); A. Evans (Alun); Faeh, D. (David); Fall, C.H. (Caroline H.); F. Farzadfar (Farshad); Felix-Redondo, F.J. (Francisco J.); Ferguson, T.S. (Trevor S.); Fernández-Bergés, D. (Daniel); Ferrante, D. (Daniel); Ferrari, M. (Marika); Ferreccio, C. (Catterina); J. Ferrieres (Jean); Finn, J.D. (Joseph D.); K. Fischer (Krista); Flores, E.M. (Eric Monterubio); Föger, B. (Bernhard); Foo, L.H. (Leng Huat); Forslund, A.-S. (Ann-Sofie); Forsner, M. (Maria); S.P. Fortmann (Stephen); Fouad, H.M. (Heba M.); Francis, D.K. (Damian K.); Do Carmo Franco, M. (Maria); O.H. Franco (Oscar); Frontera, G. (Guillermo); Fuchs, F.D. (Flavio D.); Fuchs, S.C. (Sandra C.); Fujita, Y. (Yuki); Furusawa, T. (Takuro); Gaciong, Z. (Zbigniew); Gafencu, M. (Mihai); Gareta, D. (Dickman); Garnett, S.P. (Sarah P.); J.-M. Gaspoz (Jean-Michel); Gasull, M. (Magda); Gates, L. (Louise); J.M. Geleijnse (Marianne); Ghasemian, A. (Anoosheh); S. Giampaoli (Simona); F. Gianfagna (Francesco); Giovannelli, J. (Jonathan); A. Giwercman (Aleksander); Goldsmith, R.A. (Rebecca A.); Gonçalves, H. (Helen); M. Gross; González Rivas, J.P. (Juan P.); Gorbea, M.B. (Mariano Bonet); Gottrand, F. (Frederic); Graff-Iversen, S. (Sidsel); Grafnetter, D. (Dušan); Grajda, A. (Aneta); Grammatikopoulou, M.G. (Maria G.); Gregor, R.D. (Ronald D.); T. Grodzicki (Tomasz); Grøntved, A. (Anders); Gruden, G. (Grabriella); Grujic, V. (Vera); Gu, D. (Dongfeng); Gualdi-Russo, E. (Emanuela); Guan, O.P. (Ong Peng); V. Gudnason (Vilmundur); Guerrero, R. (Ramiro); I. Guessous (Idris); Guimaraes, A.L. (Andre L.); Gulliford, M.C. (Martin C.); Gunnlaugsdottir, J. (Johanna); Gunter, M. (Marc); Guo, X. (Xiuhua); Guo, Y. (Yin); Gupta, P.C. (Prakash C.); Gureje, O. (Oye); Gurzkowska, B. (Beata); Gutierrez, L. (Laura); Gutzwiller, F. (Felix); J. Halkjær; Hambleton, I.R. (Ian R.); R. Hardy; Kumar, R.H. (Rachakulla Hari); Hata, J. (Jun); Hayes, A.J. (Alison J.); He, J. (Jiang); M.E. Hendriks (Marleen); Cadena, L.H. (Leticia Hernandez); Herrala, S. (Sauli); Heshmat, R. (Ramin); Hihtaniemi, I.T. (Ilpo Tapani); Ho, S.Y. (Sai Yin); Ho, S.C. (Suzanne C.); Hobbs, M. (Michael); Hofman, A. (Albert); Hormiga, C.M. (Claudia M.); Horta, B.L. (Bernardo L.); Houti, L. (Leila); Howitt, C. (Christina); Htay, T.T. (Thein Thein); Htet, A.S. (Aung Soe); Htike, M.M.T. (Maung Maung Than); Hu, Y. (Yonghua); A. Husseini (Abdullatif); Huu, C.N. (Chinh Nguyen); Huybrechts, I. (Inge); Hwalla, N. (Nahla); L. Iacoviello (Licia); Iannone, A.G. (Anna G.); Ibrahim, M.M. (Mohsen M.); Ikeda, N. (Nayu); M.A. Ikram (Arfan); V. Irazola (Vilma); M. Islam (Muhammad); Ivkovic, V. (Vanja); Iwasaki, M. (Masanori); Jackson, R.T. (Rod T.); Jacobs, J.M. (Jeremy M.); T.H. Jafar (Tazeen); Jamil, K.M. (Kazi M.); K. Jamrozik; Janszky, I. (Imre); Jasienska, G. (Grazyna); Jelakovic, B. (Bojan); Jiang, C.Q. (Chao Qiang); Joffres, M. (Michel); M. Johansson (Mattias); J.B. Jonas (Jost B.); T. Jorgensen (Torben); Joshi, P. (Pradeep); Juolevi, A. (Anne); Jurak, G. (Gregor); Jureša, V. (Vesna); R. Kaaks (Rudolf); Kafatos, A. (Anthony); Kalter-Leibovici, O. (Ofra); Kapantais, E. (Efthymios); Kasaeian, A. (Amir); Katz, J. (Joanne); Kaur, P. (Prabhdeep); M. Kavousi (Maryam); M. Keil (Mark); Boker, L.K. (Lital Keinan); S. Keinanen-Kiukaanniemi (Sirkka); Kelishadi, R. (Roya); H.C.G. Kemper; A.P. Kengne (Andre Pascal); Kersting, M. (Mathilde); T. Key (Tim); Y.S. Khader (Yousef Saleh); D. Khalili (Davood); Khang, Y.-H. (Young-Ho); K.-T. Khaw (Kay-Tee); Khouw, I.M.S.L. (Ilse M. S. L.); S. Kiechl (Stefan); Killewo, J. (Japhet); Kim, J. (Jeongseon); Klimont, J. (Jeannette); J. Klumbiene (Jurate); Koirala, B. (Bhawesh); Kolle, E. (Elin); P. Kolsteren (Patrick); Korrovits, P. (Paul); S. Koskinen (Seppo); Kouda, K. (Katsuyasu); Koziel, S. (Slawomir); W. Kratzer (Wolfgang); Krokstad, S. (Steinar); Kromhout, D. (Daan); Kruger, H.S. (Herculina S.); R. Kubinova; U.M. Kujala (Urho); Kula, K. (Krzysztof); Kulaga, Z. (Zbigniew); Krishna Kumar, R.; Kurjata, P. (Pawel); Kusuma, Y.S. (Yadlapalli S.); K. Kuulasmaa (Kari); Kyobutungi, C. (Catherine); Laamiri, F.Z. (Fatima Zahra); T. Laatikainen (Tiina); C. Lachat (Carl); Laid, Y. (Youcef); Lam, T.H. (Tai Hing); Landrove, O. (Orlando); Lanska, V. (Vera); Lappas, G. (Georg); Larijani, B. (Bagher); L.E. Laugsand (Lars E.); Bao, K.L.N. (Khanh Le Nguyen); Le, T.D. (Tuyen D.); Leclercq, C. (Catherine); J.J.M. Lee (Jeannette); Lee, J. (Jeonghee); T. Lehtimäki (Terho); Lekhraj, R. (Rampal); León-Muñoz, L.M. (Luz M.); Y. Li (Yanping); Lilly, C.L. (Christa L.); W.-Y. Lim (Wei-Yen); Fernanda Lima-Costa, M.; Lin, H.-H. (Hsien-Ho); X. Lin (Xu); A. Linneberg (Allan); L. Lissner (Lauren); Litwin, M. (Mieczyslaw); Liu, J. (Jing); R. Lorbeer (Roberto); P.A. Lotufo (Paulo A); Lozano, J.E. (José Eugenio); Luksiene, D. (Dalia); A. Lundqvist (Annamari); Lunet, N. (Nuno); Lytsy, P. (Per); Ma, G. (Guansheng); Ma, J. (Jun); Machado-Coelho, G.L.L. (George L. L.); Machi, S. (Suka); Maggi, S. (Stefania); D.J. Magliano; Maire, B. (Bernard); Makdisse, M. (Marcia); R. Malekzadeh (Reza); Malhotra, R. (Rahul); Rao, K.M. (Kodavanti Mallikharjuna); S. Malyutina; Y. Manios; Mann, J.I. (Jim I.); Manzato, E. (Enzo); Margozzini, P. (Paula); Markey, O. (Oonagh); P. Marques-Vidal (Pedro); J. Marrugat (Jaume); Martin-Prevel, Y. (Yves); Martorell, R. (Reynaldo); Masoodi, S.R. (Shariq R.); E.B. Mathiesen (Ellisiv); Matsha, T.E. (Tandi E.); Mazur, A. (Artur); Mbanya, J.C.N. (Jean Claude N.); McFarlane, S.R. (Shelly R.); McGarvey, S.T. (Stephen T.); McKee, M. (Martin); S. McLachlan (Stela); McLean, R.M. (Rachael M.); McNulty, B.A. (Breige A.); Yusof, S.M. (Safiah Md); Mediene-Benchekor, S. (Sounnia); A. Meirhaeghe (Aline); C. Meisinger (Christa); Menezes, A.M.B. (Ana Maria B.); Mensink, G.B.M. (Gert B. M.); Meshram, I.I. (Indrapal I.); A. Metspalu (Andres); J. Mi (Jie); K.F. Michaelsen; Mikkel, K. (Kairit); Miller, J.C. (Jody C.); Miquel, J.F. (Juan Francisco); Jaime Miranda, J.; Mišigoj-Durakovic, M. (Marjeta); Mohamed, M.K. (Mostafa K.); K. Mohammad (Kazem); Mohammadifard, N. (Noushin); V. Mohan (Viswanathan); Yusoff, M.F.M. (Muhammad Fadhli Mohd); Molbo, D. (Drude); Møller, N.C. (Niels C.); Molnár, D. (Dénes); Mondo, C.K. (Charles K.); Monterrubio, E.A. (Eric A.); Monyeki, K.D.K. (Kotsedi Daniel K.); Moreira, L.B. (Leila B.); Morejon, A. (Alain); Moreno, L.A. (Luis A.); Morgan, K. (Karen); Mortensen, E.L. (Erik Lykke); G. Moschonis; Mossakowska, M. (Malgorzata); Mostafa, A. (Aya); Mota, J. (Jorge); Motlagh, M.E. (Mohammad Esmaeel); Motta, J. (Jorge); Mu, T.T. (Thet Thet); M.L. Muiesan (Maria Lorenza); M. Müller-Nurasyid (Martina); Murphy, N. (Neil); Mursu, J. (Jaakko); Murtagh, E.M. (Elaine M.); Musa, K.I. (Kamarul Imran); Musil, V. (Vera); Nagel, G. (Gabriele); Nakamura, H. (Harunobu); Námešná, J. (Jana); Nang, E.E.K. (Ei Ei K.); M. Nangia (Monika); Nankap, M. (Martin); Narake, S. (Sameer); E.M. Navarrete-Muñoz; Neal, W.A. (William A.); Nenko, I. (Ilona); Neovius, M. (Martin); Nervi, F. (Flavio); Neuhauser, H.K. (Hannelore K.); Nguyen, N.D. (Nguyen D.); Nguyen, Q.N. (Quang Ngoc); Nieto-Martínez, R.E. (Ramfis E.); Ning, G. (Guang); T. Ninomiya (Toshiharu); Nishtar, S. (Sania); Noale, M. (Marianna); Norat, T. (Teresa); Noto, D. (Davide); Nsour, M.A. (Mohannad Al); O’Reilly, D. (Dermot); Oh, K. (Kyungwon); Olayan, I.H. (Iman H.); Olinto, M.T.A. (Maria Teresa Anselmo); Oltarzewski, M. (Maciej); Omar, M.A. (Mohd A.); A. Onat (Altan); Ordunez, P. (Pedro); Ortiz, A.P. (Ana P.); Osler, M. (Merete); Osmond, C. (Clive); Ostojic, S.M. (Sergej M.); Otero, J.A. (Johanna A.); K. Overvad (Kim); E. Owusu-Dabo (Ellis); Paccaud, F.M. (Fred Michel); Padez, C. (Cristina); Pahomova, E. (Elena); A. Pajak (Andrzej); D. Palli (Domenico); Palloni, A. (Alberto); Palmieri, L. (Luigi); S. Panda-Jonas (Songhomitra); F. Panza (Francesco); Parnell, W.R. (Winsome R.); Parsaeian, M. (Mahboubeh); Pecin, I. (Ivan); Pednekar, M.S. (Mangesh S.); P.H.M. Peeters; Peixoto, S.V. (Sergio Viana); Peltonen, M. (Markku); A. Pereira (A.); Pérez, C.M. (Cynthia M.); A. Peters; Petkeviciene, J. (Janina); Peykari, N. (Niloofar); Pham, S.T. (Son Thai); Pigeot, I. (Iris); H. Pikhart (Hynek); Pilav, A. (Aida); A. Pilotto (Alberto); Pistelli, F. (Francesco); Pitakaka, F. (Freda); Piwonska, A. (Aleksandra); Plans-Rubió, P. (Pedro); Poh, B.K. (Bee Koon); M. Porta; M.L.P. Portegies (Marileen); Poulimeneas, D. (Dimitrios); Pradeepa, R. (Rajendra); Prashant, M. (Mathur); J.F. Price (Jackie F.); Puiu, M. (Maria); M. Punab (Margus); Qasrawi, R.F. (Radwan F.); Qorbani, M. (Mostafa); Bao, T.Q. (Tran Quoc); Radic, I. (Ivana); Radisauskas, R. (Ricardas); Rahman, M.-M. (Mah-mudur); O. Raitakari (Olli); Raj, M. (Manu); Rao, S.R. (Sudha Ramachandra); Ramachandran, A. (Ambady); Ramke, J. (Jacqueline); Ramos, R. (Rafel); Rampal, S. (Sanjay); Rasmussen, F. (Finn); J. Redón (Josep); Reganit, P.F.M. (Paul Ferdinand M.); Ribeiro, R. (Robespierre); Riboli, E. (Elio); Rigo, F. (Fernando); T.F. Rinke de Wit (Tobias); Ritti-Dias, R.M. (Raphael M.); Rivera, J.A. (Juan A.); S.M. Robinson (Siân); Robitaille, C. (Cynthia); F. Rodríguez Artalejo (Fernando); Del Cristo Rodriguez-Perez, M. (María); Rodríguez-Villamizar, L.A. (Laura A.); Rojas-Martinez, R. (Rosalba); Rojroong-Wasinkul, N. (Nipa); Romaguera, D. (Dora); K. Ronkainen (Kimmo); A. Rosengren (Annika); Rouse, I. (Ian); Rubinstein, A. (Adolfo); Rühli, F.J. (Frank J.); Rui, O. (Ornelas); Ruiz-Betancourt, B.S. (Blanca Sandra); Russo Horimoto, A.R.V. (Andrea R. V.); Rutkowski, M. (Marcin); C. Sabanayagam (Charumathi); Sachdev, H.S. (Harshpal S.); Saidi, O. (Olfa); Salanave, B. (Benoit); Martinez, E.S. (Eduardo Salazar); V. Salomaa (Veikko); Salonen, J.T. (Jukka T.); M. Salvetti (Massimo); Sánchez-Abanto, J. (Jose); Sandjaja,; S. Sans (Susana); Santos, D.A. (Diana A.); Santos, O. (Osvaldo); Dos Santos, R.N. (Renata Nunes); Santos, R. (Rute); J. Saramies (Jouko); Sardinha, L.B. (Luis B.); Sarrafzadegan, N. (Nizal); Saum, K.-U. (Kai-Uwe); S. Savva; Scazufca, M. (Marcia); Rosario, A.S. (Angelika Schaffrath); Schargrodsky, H. (Herman); Schienkiewitz, A. (Anja); Schmidt, I.M. (Ida Maria); I.J.C. Schneider (Ione J C); C. Schultsz (Constance); Schutte, A.E. (Aletta E.); Sein, A.A. (Aye Aye); Sen, A. (Abhijit); Senbanjo, I.O. (Idowu O.); S.G. Sepanlou (Sadaf G); Shalnova, S.A. (Svetlana A.); Sharma, S.K. (Sanjib K.); J.E. Shaw; K. Shibuya (Kenji); Shin, D.W. (Dong Wook); Y. Shin (Youchan); R. Shiri (Rahman); R. Siantar (Rosalynn); Sibai, A.M. (Abla M.); Silva, A.M. (Antonio M.); Silva, D.A.S. (Diego Augusto Santos); Simon, M. (Mary); J. Simons (Judith); L.A. Simons (Leon); Sjostrom, M. (Michael); J. Slowikowska-Hilczer (Jolanta); Slusarczyk, P. (Przemyslaw); L. Smeeth (Liam); Smith, M.C. (Margaret C.); M.B. Snijder (Marieke); So, H.-K. (Hung-Kwan); Sobngwi, E. (Eugène); S. Söderberg (Stefan); Soekatri, M.Y.E. (Moesijanti Y. E.); Solfrizzi, V. (Vincenzo); E. Sonestedt (Emily); Song, Y. (Yi); T.I.A. Sørensen (Thorkild); Soric, M. (Maroje); Jérome, C.S. (Charles Sossa); Soumare, A. (Aicha); J.A. Staessen (Jan); Starc, G. (Gregor); Stathopoulou, M.G. (Maria G.); Staub, K. (Kaspar); Stavreski, B. (Bill); Steene-Johannessen, J. (Jostein); Stehle, P. (Peter); Stein, A.D. (Aryeh D.); Stergiou, G.S. (George S.); Stessman, J. (Jochanan); Stieber, J. (Jutta); D. Stöckl (Doris); Stocks, T. (Tanja); Stokwiszewski, J. (Jakub); Stratton, G. (Gareth); K. Stronks (Karien); Strufaldi, M.W. (Maria Wany); Sun, C.-A. (Chien-An); Sundström, J. (Johan); Sung, Y.-T. (Yn-Tz); J. Sunyer (Jordi); Suriyawongpaisal, P. (Paibul); Swinburn, B.A. (Boyd A.); Sy, R.G. (Rody G.); Szponar, L. (Lucjan); E. Shyong Tai; M.L. Tammesoo; A. Tamosiunas (Abdonas); Tang, L. (Line); Tang, X. (Xun); F. Tanser (Frank); Tao, Y. (Yong); Tarawneh, M.R. (Mohammed Rasoul); Tarp, J. (Jakob); Tarqui-Mamani, C.B. (Carolina B.); Taylor, A. (Anne); Tchibindat, F. (Félicité); Theobald, H. (Holger); L. Thijs (Lutgarde); L. Thuesen (Leif); A. Tjønneland (Anne); Tolonen, H.K. (Hanna K.); Tolstrup, J.S. (Janne S.); Topbas, M. (Murat); Topór-Madry, R. (Roman); M. Torrent (Maties); Toselli, S. (Stefania); Traissac, P. (Pierre); A. Trichopoulou (Antonia); Trichopoulos, D. (Dimitrios); Trinh, O.T.H. (Oanh T. H.); Trivedi, A. (Atul); Tshepo, L. (Lechaba); Tulloch-Reid, M.K. (Marshall K.); Tuomainen, T.-P. (Tomi-Pekka); J. Tuomilehto (Jaakko); Turley, M.L. (Maria L.); Tynelius, P. (Per); Tzotzas, T. (Themistoklis); C. Tzourio (Christophe); Ueda, P. (Peter); Ukoli, F.A.M. (Flora A. M.); Ulmer, H. (Hanno); Unal, B. (Belgin); Uusitalo, H.M.T. (Hannu M. T.); Valdivia, G. (Gonzalo); Vale, S. (Susana); D. Valvi (Damaskini); Y.T. van der Schouw (Yvonne); Van Herck, K. (Koen); Van Minh, H. (Hoang); L. van Rossem (Lenie); I. van Valkengoed (Irene); D. Vanderschueren (Dirk); D. Vanuzzo (Diego); L. Vatten (Lars); Vega, T. (Tomas); Velasquez-Melendez, G. (Gustavo); G. Veronesi (Giovanni); Monique Verschuren, W.M.; Verstraeten, R. (Roosmarijn); Victora, C.G. (Cesar G.); G. Viegi; L. Viet (Lucie); E. Viikari-Juntura (Eira); P. Vineis (Paolo); J. Vioque (Jesus); Virtanen, J.K. (Jyrki K.); S. Visvikis-Siest (Sophie); B. Viswanathan (Bharathi); P. Vollenweider (Peter); Voutilainen, S. (Sari); Vrdoljak, A. (Ana); M. Vrijheid (Martine); Wade, A.N. (Alisha N.); Wagner, A. (Aline); Walton, J. (Janette); Mohamud, W.N.W. (Wan Nazaimoon Wan); Wang, M.-D. (Ming-Dong); Wang, Q. (Qian); Y. Wang (Ying); Goya Wannamethee, S.; N.J. Wareham (Nick); Weerasekera, D. (Deepa); P.H. Whincup (Peter); Widhalm, K. (Kurt); Widyahening, I.S. (Indah S.); Wiecek, A. (Andrzej); A.H. Wijga (Alet); Wilks, R.J. (Rainford J.); J. Willeit (Johann); T. Wilsgaard (Tom); B. Wojtyniak (Bogdan); Wong, J.E. (Jyh Eiin); Wong, T.Y. (Tien Yin); Woo, J. (Jean); M. Woodward (Mark); F.C.W. Wu (Frederick C.); Wu, J. (Jianfeng); Wu, S.L. (Shou Ling); Xu, H. (Haiquan); Xu, L. (Liang); Yamborisut, U. (Uruwan); Yan, W. (Weili); Yang, X. (Xiaoguang); Yardim, N. (Nazan); X. Ye (Xingwang); P.K. Yiallouros (P.); Yoshihara, A. (Akihiro); You, Q.S. (Qi Sheng); Younger-Coleman, N.O. (Novie O.); Yusoff, A.F. (Ahmad F.); Zainuddin, A.A. (Ahmad A.); Zambon, S. (Sabina); T. Zdrojewski (T.); Zeng, Y. (Yi); Zhao, D. (Dong); Zhao, W. (Wenhua); Y. Zheng (Yingfeng); M. Zhou (Ming); Zhu, D. (Dan); E. Zimmermann; Cisneros, J.Z. (Julio Zuñiga)

    2016-01-01

    textabstractBeing taller is associated with enhanced longevity, and higher education and earnings. We reanalysed 1472 population-based studies, with measurement of height on more than 18.6 million participants to estimate mean height for people born between 1896 and 1996 in 200 countries. The

  12. A century of trends in adult human height

    NARCIS (Netherlands)

    Bentham, James; Di Cesare, Mariachiara; Stevens, Gretchen A.; Zhou, Bin; Bixby, Honor; Cowan, Melanie; Fortunato, Léa; Bennett, James E.; Danaei, Goodarz; Hajifathalian, Kaveh; Lu, Yuan; Riley, Leanne M.; Laxmaiah, Avula; Kontis, Vasilis; Paciorek, Christopher J.; Riboli, Elio; Ezzati, Majid; Abdeen, Ziad A.; Hamid, Zargar Abdul; Abu-Rmeileh, Niveen M.; Acosta-Cazares, Benjamin; Adams, Robert; Aekplakorn, Wichai; Aguilar-Salinas, Carlos A.; Agyemang, Charles; Ahmadvand, Alireza; Ahrens, Wolfgang; Al-Hazzaa, Hazzaa M.; Al-Othman, Amani Rashed; Raddadi, Rajaa Al; Ali, Mohamed M.; Alkerwi, Ala'a; Alvarez-Pedrerol, Mar; Aly, Eman; Amouyel, Philippe; Amuzu, Antoinette; Andersen, Lars Bo; Anderssen, Sigmund A.; Anjana, Ranjit Mohan; Aounallah-Skhiri, Hajer; Ariansen, Inger; Aris, Tahir; Arlappa, Nimmathota; Brewster, Lizzy M.; Hendriks, Marleen Elisabeth; Wit, Tobias F. Rinke de; Schultsz, Constance; Snijder, Marieke B.; Stronks, Karien; Valkengoed, Irene Gm van

    2016-01-01

    Being taller is associated with enhanced longevity, and higher education and earnings. We reanalysed 1472 population-based studies, with measurement of height on more than 18.6 million participants to estimate mean height for people born between 1896 and 1996 in 200 countries. The largest gain in

  13. Separating Mass and Height Contributions in Gravity Variations at Medicina, Italy

    Science.gov (United States)

    Zerbini, S.; Bruni, S.; Errico, M.; Santi, E.; Wziontek, H.

    2016-12-01

    During 1996, at the Medicina station, a GPS and a superconducting gravimeter (SG) were installed in the framework of an experiment focused on the comparison between height and gravity variations. Absolute gravity observations are also performed twice a year and environmental parameters, among others water table levels, are recorded continuously. The station is also equipped with a second GPS system, the two antennas are very close to each other, and both are located in close proximity to the VLBI dish. Two decades of continuous height and gravity observations are now available which allow investigating both long and short period signals and the relevant correlations between the two measured quantities. Long period signatures are observed, a principal component is due to subsidence which is well known to occur in the area; however, also non-linear long-period behaviors are observed. Seasonal effects are also clearly recognizable in the time series and are mainly associated with the water table seasonal behavior. The station is characterized by clayey soil which is subject to consolidation effects when the water table lowers during the summer period. This effect is particularly recognizable in the SG data since the instrument is installed on a shallow foundation pillar which may suffer for height decreases in the order of 2,5-3 cm for water table lowering of 2 m.

  14. A century of trends in adult human height

    DEFF Research Database (Denmark)

    Damsgaard, Camilla Trab; Michaelsen, Kim F.; Molbo, Drude

    2016-01-01

    in adult height over the past century has occurred in South Korean women and Iranian men, who became 20.2 cm (95% credible interval 17.5-22.7) and 16.5 cm (13.3-19.7) taller, respectively. In contrast, there was little change in adult height in some sub-Saharan African countries and in South Asia over...... the century of analysis. The tallest people over these 100 years are men born in the Netherlands in the last quarter of 20th century, whose average heights surpassed 182.5 cm, and the shortest were women born in Guatemala in 1896 (140.3 cm; 135.8-144.8). The height differential between the tallest...... and shortest populations was 19-20 cm a century ago, and has remained the same for women and increased for men a century later despite substantial changes in the ranking of countries....

  15. Plume Dispersion over Idealized Urban-liked Roughness with Height Variation: an LES Approach

    Science.gov (United States)

    Wong, Colman Ching Chi; Liu, Chun-Ho

    2013-04-01

    Human activities (e.g. vehicular emission) are the primary pollutant sources affecting the health and living quality of stakeholders in modern compact cities. Gaussian plume dispersion model is commonly used for pollutant distribution estimate that works well over rural areas with flat terrain. However, its major parameters, dispersion coefficients, exclude the effect of surface roughness that unavoidably prone to error handling the pollutant transport in the urban boundary layer (UBL) over building roughness. Our recent large-eddy simulation (LES) has shown that urban surfaces affect significantly the pollutant dispersion over idealized, identical two-dimensional (2D) street canyons of uniform height. As an extension to our on-going effort, this study is conceived to investigate how rough urban surfaces, which are constructed by 2D street canyons of non-uniform height, modify the UBL pollutant dispersion . A series of LESs with idealized roughness elements of non-uniform heights were performed in neutral stratification. Building models with two different heights were placed alternatively in the computational domain to construct 2D street canyons in cross flows. The plume dispersion from a ground-level passive pollutant source over more realistic urban areas was then examined. Along with the existing building-height-to-street-width (aspect) ratio (AR), a new parameter, building-height variability (BHV), is used to measure the building height unevenness. Four ARs (1, 0.5, 0.25 and 0.125) and three BHVs (20%, 40% and 60%) were considered in this study. Preliminary results show that BHV greatly increases the aerodynamic roughness of the hypothetical urban surfaces for narrow street canyons. Analogous to our previous findings, the air exchange rate (ACH) of street canyons increases with increasing friction factor, implying that street-level ventilation could be improved by increasing building roughness via BHV. In addition, the parameters used in dispersion coefficient

  16. Photographic Records Showing the Variations of the Virtual Height of Reflection as a Function of the Radio Frequency

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — The standard (analog) ionosonde produces photographic records known as ionograms, which show the variations of the virtual height of reflection as a function of the...

  17. Predicting human height by Victorian and genomic methods

    NARCIS (Netherlands)

    Y.S. Aulchenko (Yurii); M.V. Struchalin (Maksim); N.M. Belonogova (Nadezhda); T.I. Axenovich (Tatiana); M.N. Weedon (Michael); A. Hofman (Albert); A.G. Uitterlinden (André); M.H. Kayser (Manfred); B.A. Oostra (Ben); P. Tikka-Kleemola (Päivi); A.C.J.W. Janssens (Cécile); P.M. Borodin (Pavel)

    2009-01-01

    textabstractIn the Victorian era, Sir Francis Galton showed that 'when dealing with the transmission of stature from parents to children, the average height of the two parents, ... is all we need care to know about them' (1886). One hundred and twenty-two years after Galton's work was published, 54

  18. Solar influence on meteor rates and atmospheric density variations at meteor heights

    International Nuclear Information System (INIS)

    Ellyett, C.

    1977-01-01

    A full analysis of radar-determined meteor rates from New Zealand, involving 3,085,574 meteors recorded over a total of 3 1/2 years, and 12,391,976 meteors recorded by the National Research Council of Canada in 8 1/2 years confirms an inverse relationship between meteor rates and solar activity as measured by sunspot numbers. The relationship, significant at the 1% level, appears in the Canadian annual average when the abnormal 1963 increase is removed, in monthly and 1/3-monthly results for the total Canadian period, and in monthly intervals for 1 year of the New Zealand data. This proven relationship of meteor rates with the solar cycle calls for a significant density gradient change over the solar cycle in the 70- to-120-km height range. Although some definite negative results have been reported, no unambiguous positive results are yet available supporting such a density gradient change. It is possible that density variations due to annual, semiannual, diurnal, and latitudinal changes obscure any 11-year density gradient change occurring at these heights. It is uncertain whether the 1963 increase represents density gradient changes in the meteor ablation region regularly brought about 1-2 years before each sunspot minimum or is a special event due to volcanic dust. The following additional facts have emerged from the present analysis. (1) Within a 1-year period the seasonal rate change of astronomical origin overrides any density gradient change in controlling the meteor rates in one of the two hemispheres. (2) The earth's daily rotation alters rates in phase with probable diurnal density gradient changes. (3) An effect due to D region absorption has been observed in the Canadian data

  19. Five millions years of paleosecular variations from the Golan Heights volcanic field, Israel

    Science.gov (United States)

    Behar, N.; Shaar, R.; Asefaw, H.; Ebert, Y.; Koppers, A.; Tauxe, L.

    2017-12-01

    One of the most fundamental assumption in paleomagnetism is that the averaged geomagnetic field on geological timescales is a geocentric axial dipole (GAD). Given the first order importance of the GAD hypothesis, it is essential to rigorously test its validity and to understand the limits of its use. Additionally, it is equally vital to characterize statistically paleomagnetic secular variations (PSV) over timescales of 106 years. The Plio-Pleistocene volcanic field in the Golan Heights, Israel (32.7°N-33.3°N) is a nearly ideal location to investigate these issues, owing to excellent exposure of basaltic flows, dated using more than 100 radiometric (K/Ar and Ar/Ar) ages covering the past 5 Myr. Here we present new data from 89 basalt flows from the Golan Heights with ages spanning from 5.4 Ma to 0.1 Ma, and 18 new Ar/Ar ages. This relatively large dataset allows us to calculate three different Virtual Geomagnetic Poles (VGP): Pleistocene, Pliocene, and a combined Plio-Pleistocene. From each pole we calculate the inclination anomaly (ΔI) and the VGP scatter parameter (SB). The Pleistocene pole yields a VGP scatter parameter around SB =13, lower than predictions of PSV models. Also, it demonstrates negligible inclination anomaly of less than 2°, suggesting validation of the GAD model. The Pliocene pole shows a larger scatter (SB 18) and a negative inclination anomaly around ΔI = -7°. We discuss these results in view of the worldwide paleomagnetic database and the available PSV models.

  20. A curvilinear effect of height on reproductive success in human males

    NARCIS (Netherlands)

    Stulp, G.; Pollet, T.V.; Verhulst, S.; Buunk, A.P.

    2012-01-01

    Human male height is associated with mate choice and intra-sexual competition, and therefore potentially with reproductive success. A literature review (n = 18) on the relationship between male height and reproductive success revealed a variety of relationships ranging from negative to curvilinear

  1. A curvilinear effect of height on reproductive success in human males

    NARCIS (Netherlands)

    Stulp, Gert; Pollet, Thomas V.; Verhulst, Simon; Buunk, Abraham P.

    Human male height is associated with mate choice and intra-sexual competition, and therefore potentially with reproductive success. A literature review (n = 18) on the relationship between male height and reproductive success revealed a variety of relationships ranging from negative to curvilinear

  2. Size variation in Middle Pleistocene humans.

    Science.gov (United States)

    Arsuaga, J L; Carretero, J M; Lorenzo, C; Gracia, A; Martínez, I; Bermúdez de Castro, J M; Carbonell, E

    1997-08-22

    It has been suggested that European Middle Pleistocene humans, Neandertals, and prehistoric modern humans had a greater sexual dimorphism than modern humans. Analysis of body size variation and cranial capacity variation in the large sample from the Sima de los Huesos site in Spain showed instead that the sexual dimorphism is comparable in Middle Pleistocene and modern populations.

  3. Anatomy, Medical Education, and Human Ancestral Variation

    Science.gov (United States)

    Strkalj, Goran; Spocter, Muhammad A.; Wilkinson, A. Tracey

    2011-01-01

    It is argued in this article that the human body both in health and disease cannot be fully understood without adequately accounting for the different levels of human variation. The article focuses on variation due to ancestry, arguing that the inclusion of information pertaining to ancestry in human anatomy teaching materials and courses should…

  4. Wood Specific Gravity Variation with Height and Its Implications for Biomass Estimation

    Science.gov (United States)

    Michael C. Wiemann; G. Bruce Williamson

    2014-01-01

    Wood specific gravity (SG) is widely employed by ecologists as a key variable in estimates of biomass. When it is important to have nondestructive methods for sampling wood for SG measurements, cores are extracted with an increment borer. While boring is a relatively difficult task even at breast height sampling, it is impossible at ground level and arduous at heights...

  5. HGVA: the Human Genome Variation Archive

    OpenAIRE

    Lopez, Javier; Coll, Jacobo; Haimel, Matthias; Kandasamy, Swaathi; Tarraga, Joaquin; Furio-Tari, Pedro; Bari, Wasim; Bleda, Marta; Rueda, Antonio; Gr?f, Stefan; Rendon, Augusto; Dopazo, Joaquin; Medina, Ignacio

    2017-01-01

    Abstract High-profile genomic variation projects like the 1000 Genomes project or the Exome Aggregation Consortium, are generating a wealth of human genomic variation knowledge which can be used as an essential reference for identifying disease-causing genotypes. However, accessing these data, contrasting the various studies and integrating those data in downstream analyses remains cumbersome. The Human Genome Variation Archive (HGVA) tackles these challenges and facilitates access to genomic...

  6. Systematic variations in multi-spectral lidar representations of canopy height profiles and gap probability

    Science.gov (United States)

    Chasmer, L.; Hopkinson, C.; Gynan, C.; Mahoney, C.; Sitar, M.

    2015-12-01

    Airborne and terrestrial lidar are increasingly used in forest attribute modeling for carbon, ecosystem and resource monitoring. The near infra-red wavelength at 1064nm has been utilised most in airborne applications due to, for example, diode manufacture costs, surface reflectance and eye safety. Foliage reflects well at 1064nm and most of the literature on airborne lidar forest structure is based on data from this wavelength. However, lidar systems also operate at wavelengths further from the visible spectrum (e.g. 1550nm) for eye safety reasons. This corresponds to a water absorption band and can be sensitive to attenuation if surfaces contain moisture. Alternatively, some systems operate in the visible range (e.g. 532nm) for specialised applications requiring simultaneous mapping of terrestrial and bathymetric surfaces. All these wavelengths provide analogous 3D canopy structure reconstructions and thus offer the potential to be combined for spatial comparisons or temporal monitoring. However, a systematic comparison of wavelength-dependent foliage profile and gap probability (index of transmittance) is needed. Here we report on two multispectral lidar missions carried out in 2013 and 2015 over conifer, deciduous and mixed stands in Ontario, Canada. The first used separate lidar sensors acquiring comparable data at three wavelengths, while the second used a single sensor with 3 integrated laser systems. In both cases, wavelenegths sampled were 532nm, 1064nm and 1550nm. The experiment revealed significant differences in proportions of returns at ground level, the vertical foliage distribution and gap probability across wavelengths. Canopy attenuation was greatest at 532nm due to photosynthetic plant tissue absorption. Relative to 1064nm, foliage was systematically undersampled at the 10% to 60% height percentiles at both 1550nm and 532nm (this was confirmed with coincident terrestrial lidar data). When using all returns to calculate gap probability, all

  7. Hip fracture and anthropometric variations: dominance among trochanteric soft tissue thickness, body height and body weight during sideways fall.

    Science.gov (United States)

    Majumder, Santanu; Roychowdhury, Amit; Pal, Subrata

    2013-01-01

    Hip fracture depends on various anthropometric parameters such as trochanteric soft tissue thickness, body height and body weight. The objective was to evaluate the responses to the variations in anthropometric parameters during sideways fall, and to identify the most dominant parameter among them. Seven finite element models were developed having anthropometric variations in trochanteric soft tissue thickness (5-26 mm), body height (1.70-1.88 m), and body weight (63-93.37 kg). These were simulated for sideways fall with ANSYS-LS-DYNA® code. Significant effect of trochanteric soft tissue thickness variation was found on 'normalized peak impact force with respect to the body weight' (p=0.004, r²=0.808) and strain ratio (p=0.083, r²=0.829). But, variation in body height was found to be less significant on normalized peak impact force (p=0.478, r²=0.105) and strain ratio (p=0.292, r²=0.217). Same was true for the variation in body weight on normalized peak impact force (p=0.075, r²=0.456) and strain ratio (p=0.857, r²=0.007). The risk factor for fracture was also well correlated to the strain ratio for the inter-trochanteric zone (pfractures are clinically observed to happen. Trochanteric soft tissue thickness was found likely to be the most dominant parameter over body height and body weight, signifying that a slimmer elderly person, taller or shorter, with less trochanteric soft tissue thickness should be advised to take preventive measures against hip fracture under sideways fall. © 2013.

  8. Socioeconomic variation in height: analysis of National Child Measurement Programme data for England.

    Science.gov (United States)

    Hancock, Caroline; Bettiol, Silvana; Smith, Lesley

    2016-05-01

    Short stature is associated with increased risk of ill health and mortality and can negatively impact on an individual's economic opportunity and psychological well-being. The aim of this study was to investigate the association between height and area-level deprivation by ethnic group in children in England. Cross-sectional analysis of data gathered from the National Child Measurement Programme 2008/2009 to 2012/2013. Children (n=1 213 230) aged 4-5 and 10-11 years attending state-maintained primary schools in England. Mean height SD score (SDS) (based on the British 1990 growth reference) was calculated for children by Income Deprivation Affecting Children Index as a measure of area-level deprivation. Analyses were performed by sex and age group for white British, Asian and black ethnicities. For white British children mean height decreased 0.2 SDS between the least and the most deprived quintile. For Asian children the relationship was weaker and varied between 0.08 and 0.18 SDS. For white British boys the magnitude of association was similar across age groups; for Asian boys the magnitude was higher in the age group of 10-11 years and in white British girls aged 10-11 years the association decreased. Height SDS was similar across all levels of deprivation for black children. Social inequalities were shown in the height of children from white British and Asian ethnic groups. Further evaluation of height in black children is warranted. Action is needed to reduce inequalities in height by addressing the modifiable negative environmental factors that prevent healthy growth and development of children. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  9. Active numerical model of human body for reconstruction of falls from height.

    Science.gov (United States)

    Milanowicz, Marcin; Kędzior, Krzysztof

    2017-01-01

    Falls from height constitute the largest group of incidents out of approximately 90,000 occupational accidents occurring each year in Poland. Reconstruction of the exact course of a fall from height is generally difficult due to lack of sufficient information from the accident scene. This usually results in several contradictory versions of an incident and impedes, for example, determination of the liability in a judicial process. In similar situations, in many areas of human activity, researchers apply numerical simulation. They use it to model physical phenomena to reconstruct their real course over time; e.g. numerical human body models are frequently used for investigation and reconstruction of road accidents. However, they are validated in terms of specific road traffic accidents and are considerably limited when applied to the reconstruction of other types of accidents. The objective of the study was to develop an active numerical human body model to be used for reconstruction of accidents associated with falling from height. Development of the model involved extension and adaptation of the existing Pedestrian human body model (available in the MADYMO package database) for the purposes of reconstruction of falls from height by taking into account the human reaction to the loss of balance. The model was developed by using the results of experimental tests of the initial phase of the fall from height. The active numerical human body model covering 28 sets of initial conditions related to various human reactions to the loss of balance was developed. The application of the model was illustrated by using it to reconstruct a real fall from height. From among the 28 sets of initial conditions, those whose application made it possible to reconstruct the most probable version of the incident was selected. The selection was based on comparison of the results of the reconstruction with information contained in the accident report. Results in the form of estimated

  10. Active moss biomonitoring applied to an industrial area in Romania: variation of element contents with the height of exposure site

    International Nuclear Information System (INIS)

    Culicov, O.; Yurukova, L.; Mocanu, R.; Frontasyeva, V.; Sarbu, C.

    2007-01-01

    Neutron activation analysis and the moss-bag transplant technique were used to investigate the variation of element contents with the height of the exposure site of Sphagnum girgensohnii samples in the strongly polluted town of Baia Mare, Romania, according to a novel sampling design. Moss collected from the background area in Moscow region, Russia, was hanged in bags at 3 locations spread within an area of one square kilometre, and analyzed after 4 months of exposure. At each location a number of 15 samples were suspended at 6 different levels above the ground: 6, 12, 18, 24 and 30 m. A total of 35 elements were determined by NAA at IBR-2 reactor in Dubna, Russia. Discriminant Analysis allowed depicting the differences between the accumulation patterns of moss at different levels of exposure and at various locations. The concentration of only twenty four and twenty five elements of thirty five provided sufficient information to enable classification rules to be developed for identifying moss samples according with their height of exposure and location, respectively. The most discriminant elements have the F values (indicating the statistical significance in the discrimination between groups) descending in the following order: K, Rb, Sb, Cs, Zn, Cl for the location model and Ca, Cd, As, Sr, Ba, Cl for the height model. A good agreement have been observed between the groups obtained by applying Discriminant Analysis and the origin of the samples. A small number of elements are significant for the separation of moss-bags by height in individual locations. The parameter ?variation in concentration by height? is less significant than the parameter ? variation in concentration by location?

  11. How do low/high height and weight variation affect upper limb movements during manual material handling of industrial boxes?

    Directory of Open Access Journals (Sweden)

    Ana B. Oliveira

    Full Text Available OBJECTIVES: To evaluate the effect of surface height and load weight on upper limb movements and electromyographic (EMG recordings during manual handling performed by both experienced and inexperienced lifter subjects. METHODS: Sixteen experienced and sixteen inexperienced lifters handled a box (both 7 and 15 kg from an intermediate height (waist level to either a high or low surface. Electromyography and video images were recorded during the tasks. The 10th, 50th and 90th percentiles were calculated for the deltoid and biceps muscles, shoulder flexion, shoulder abduction, and elbow flexion movements. Groups, right/left sides, weights and heights were compared. There were no differences between either groups or sides. RESULTS: Weight and height variations affected EMG and posture, although weight had more impact on EMG. Shoulder abduction and flexion movements higher than 60º occurred, particularly for the higher surface. Shoulder flexion was also higher when the box was moved to the low height. This study provides new evidence as shoulder postures during boxes handling on low surfaces had not previously been evaluated. CONCLUSIONS: The high demand of upper limb in manual material handling tasks is clear, particularly for the shoulder. This knowledge can be used by physical therapists to plan better rehabilitation programs for manual material handling-related disorders, particularly focusing on return to work.

  12. Extensive Variation in Chromatin States Across Humans

    KAUST Repository

    Kasowski, M.

    2013-10-17

    The majority of disease-associated variants lie outside protein-coding regions, suggesting a link between variation in regulatory regions and disease predisposition. We studied differences in chromatin states using five histone modifications, cohesin, and CTCF in lymphoblastoid lines from 19 individuals of diverse ancestry. We found extensive signal variation in regulatory regions, which often switch between active and repressed states across individuals. Enhancer activity is particularly diverse among individuals, whereas gene expression remains relatively stable. Chromatin variability shows genetic inheritance in trios, correlates with genetic variation and population divergence, and is associated with disruptions of transcription factor binding motifs. Overall, our results provide insights into chromatin variation among humans.

  13. Extensive Variation in Chromatin States Across Humans

    KAUST Repository

    Kasowski, M.; Kyriazopoulou-Panagiotopoulou, S.; Grubert, F.; Zaugg, J. B.; Kundaje, A.; Liu, Y.; Boyle, A. P.; Zhang, Q. C.; Zakharia, F.; Spacek, D. V.; Li, J.; Xie, D.; Olarerin-George, A.; Steinmetz, L. M.; Hogenesch, J. B.; Kellis, M.; Batzoglou, S.; Snyder, M.

    2013-01-01

    The majority of disease-associated variants lie outside protein-coding regions, suggesting a link between variation in regulatory regions and disease predisposition. We studied differences in chromatin states using five histone modifications, cohesin, and CTCF in lymphoblastoid lines from 19 individuals of diverse ancestry. We found extensive signal variation in regulatory regions, which often switch between active and repressed states across individuals. Enhancer activity is particularly diverse among individuals, whereas gene expression remains relatively stable. Chromatin variability shows genetic inheritance in trios, correlates with genetic variation and population divergence, and is associated with disruptions of transcription factor binding motifs. Overall, our results provide insights into chromatin variation among humans.

  14. Insights into intraspecific wood density variation and its relationship to growth, height and elevation in a treeline species.

    Science.gov (United States)

    Fajardo, A

    2018-05-01

    The wood economics spectrum provides a general framework for interspecific trait-trait coordination across wide environmental gradients. Whether global patterns are mirrored within species constitutes a poorly explored subject. In this study, I first determined whether wood density co-varies together with elevation, tree growth and height at the within-species level. Second, I determined the variation of wood density in different stem parts (trunk, branch and twigs). In situ trunk sapwood, trunk heartwood, branch and twig densities, in addition to stem growth rates and tree height were determined in adult trees of Nothofagus pumilio at four elevations in five locations spanning 18° of latitude. Mixed effects models were fitted to test relationships among variables. The variation in wood density reported in this study was narrow (ca. 0.4-0.6 g cm -3 ) relative to global density variation (ca. 0.3-1.0 g cm -3 ). There was no significant relationship between stem growth rates and wood density. Furthermore, the elevation gradient did not alter the wood density of any stem part. Trunk sapwood density was negatively related to tree height. Twig density was higher than branch and trunk densities. Trunk heartwood density was always significantly higher than sapwood density. Negative across-species trends found in the growth-wood density relationship may not emerge as the aggregate of parallel intraspecific patterns. Actually, trees with contrasting growth rates show similar wood density values. Tree height, which is tightly related to elevation, showed a negative relationship with sapwood density. © 2018 German Society for Plant Sciences and The Royal Botanical Society of the Netherlands.

  15. Barrier Height Variation in Ni-Based AlGaN/GaN Schottky Diodes

    NARCIS (Netherlands)

    Hajlasz, Marcin; Donkers, Johan J.T.M.; Pandey, Saurabh; Hurkx, Fred; Hueting, Raymond J.E.; Gravesteijn, Dirk J.

    2017-01-01

    In this paper, we have investigated Ni-based AlGaN/GaN Schottky diodes comprising capping layers with silicon-Technology-compatible metals such as TiN, TiW, TiWN, and combinations thereof. The observed change in Schottky barrier height of a Ni and Ni/TiW/TiWN/TiW contact can be explained by stress

  16. Elevational patterns of Polylepis tree height (Rosaceae in the high Andes of Peru: role of human impact and climatic conditions

    Directory of Open Access Journals (Sweden)

    Michael eKessler

    2014-05-01

    Full Text Available We studied tree height in stands of high-Andean Polylepis forests in two cordilleras near Cuzco (Peru with respect to variations in human impact and climatic conditions, and compared air and soil temperatures between qualitatively defined dry and humid slopes. We studied 46 forest plots of 100 m2 of five Polylepis species at 3560-4680 m. We measured diameter at breast height (dbh and tree height in the stands (1229 trees in total, as well as air and soil temperatures in a subset of plots. The data was analysed combining plots of given species from different sites at the same elevation (±100 m. There was no elevational decrease of mean maximum tree height across the entire data set. On humid slopes, tree height decreased continuously with elevation, whereas on dry slopes it peaked at middle elevations. With mean maximum tree heights of 9 m at 4530 m on the humid slopes and of 13 m at 4650 m on the dry slopes, we here document the tallest high-elevation forests found so far worldwide. These highest stands grow under cold mean growing season air temperatures (3.6 °C and 3.8 °C on humid vs. dry slopes and mean growing season soil temperatures (5.1 °C vs. 4.6 °C. Mean annual air and soil temperature both decreased with elevation. Dry slopes had higher mean and maximum growing season air temperatures than humid slopes. Mean annual soil temperatures did not significantly differ and mean annual air temperatures only slightly differed between slopes. However, maximum air temperatures differed on average by 6.6 K between dry and humid slopes. This suggests that the differences in tree height between the two slopes are most likely due to differences in solar radiation as reflected by maximum air temperatures. Our study furthermore provides evidence that alpine Polylepis treelines grow under lower temperature conditions than global high-elevation treelines on average, suggesting that Polylepis species may have evolved special physiological adaptations

  17. Age-related variation in genetic control of height growth in Douglas-fir.

    Science.gov (United States)

    Namkoong, G; Usanis, R A; Silen, R R

    1972-01-01

    The development of genetic variances in height growth of Douglas-fir over a 53-year period is analyzed and found to fall into three periods. In the juvenile period, variances in environmental error increase logarithmically, genetic variance within populations exists at moderate levels, and variance among populations is low but increasing. In the early reproductive period, the response to environmental sources of error variance is restricted, genetic variance within populations disappears, and populational differences strongly emerge but do not increase as expected. In the later period, environmental error again increases rapidly, but genetic variance within populations does not reappear and population differences are maintained at about the same level as established in the early reproductive period. The change between the juvenile and early reproductive periods is perhaps associated with the onset of ecological dominance and significant allocations of energy to reproduction.

  18. Child health in Peru: importance of regional variation and community effects on children's height and weight.

    Science.gov (United States)

    Shin, Heeju

    2007-12-01

    In developing countries, height and weight are good indicators of children's health and nutritional status. Maternal education has been accepted as one of the most important influences on child health. Using the 2000 Demographic and Health Survey of Peru, however, I find that the effect of maternal education varies as a function of region. In the most prosperous urban region, maternal education is less important for child health than in poor rural areas, and a higher level of education has a greater effect in rural areas. Multilevel analysis shows that a significant part of the observed correlation between maternal education and child health is moderated by regional differences and community characteristics. The finding suggests that Peruvian public policy should emphasize resource redistribution as well as women's education, and that investment in maternal education should be considered within regional contexts to enhance child health in rural areas.

  19. Aerodynamic study of a blade with sine variation of chord length along the height for Darrieus wind turbine

    Science.gov (United States)

    Crunteanu, D. E.; Constantinescu, S. G.; Niculescu, M. L.

    2013-10-01

    The wind energy is deemed as one of the most durable energetic variants of the future because the wind resources are immense. Furthermore, one predicts that the small wind turbines will play a vital role in the urban environment. Unfortunately, the complexity and the price of pitch regulated small horizontal-axis wind turbines represent ones of the main obstacles to widespread the use in populated zones. In contrast to these wind turbines, the Darrieus wind turbines are simpler and their price is lower. Unfortunately, their blades run at high variations of angles of attack, in stall and post-stall regimes, which can induce significant vibrations, fatigue and even the wind turbine failure. For this reason, the present paper deals with a blade with sine variation of chord length along the height because it has better behavior in stall and post-stall regimes than the classic blade with constant chord length.

  20. A global reference for human genetic variation

    DEFF Research Database (Denmark)

    Auton, Adam; Abecasis, Goncalo R.; M. Altshuler, David

    2015-01-01

    The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Here we report completion of the project, having reconstructed the genomes of 2,504 individuals ...

  1. Recent variations in geopotential height associated with West African monsoon variability

    Science.gov (United States)

    Okoro, Ugochukwu K.; Chen, Wen; Nath, Debashis

    2018-02-01

    In the present study, the atmospheric circulation patterns associated with the seasonal West Africa (WA) monsoon (WAM) rainfall variability has been investigated. The observational rainfall data from the Climatic Research Unit (CRU) and atmospheric fields from the National Center for Environmental Prediction (NCEP) reanalysis 2, from 1979 to 2014, have been used. The rainfall variability extremes, classified as wet or dry years, are the outcomes of simultaneous 6-month SPI at the three rainfall zones, which shows increasing trends [Guinea Coast (GC = 0.012 year-1), Eastern Sudano Sahel (ESS = 0.045 year-1) and Western Sudano Sahel (WSS = 0.056 year-1) from Sen's slope]; however, it is significant only in the Sahel region (α = 0.05 and α = 0.001 at ESS and WSS, respectively, from Mann-Kendall test). The vertical profile of the geopotential height (GpH) during the wet and dry years reveals that the 700 hPa anomalies show remarkable pattern at about 8°N to 13°N. This shows varying correlation with the zonal averaged vertically integrated moisture flux convergence and rainfall anomalies, respectively, as well as the oceanic pulsations indexes [Ocean Nino Index (ONI) and South Atlantic Ocean dipole index (SAODI), significant from t test], identified as precursors to the Sahel and GC rainfall variability respectively. The role of GpH anomalies at 700 hPa has been identified as the facilitator to the West African Westerly Jet's input to the moisture flux transported over the WA. This is a new perspective of the circulation processes associated with WAM and serves as a basis for modeling investigations.

  2. Big Data Analysis of Human Genome Variations

    KAUST Repository

    Gojobori, Takashi

    2016-01-25

    Since the human genome draft sequence was in public for the first time in 2000, genomic analyses have been intensively extended to the population level. The following three international projects are good examples for large-scale studies of human genome variations: 1) HapMap Data (1,417 individuals) (http://hapmap.ncbi.nlm.nih.gov/downloads/genotypes/2010-08_phaseII+III/forward/), 2) HGDP (Human Genome Diversity Project) Data (940 individuals) (http://www.hagsc.org/hgdp/files.html), 3) 1000 genomes Data (2,504 individuals) http://ftp.1000genomes.ebi.ac.uk/vol1/ftp/release/20130502/ If we can integrate all three data into a single volume of data, we should be able to conduct a more detailed analysis of human genome variations for a total number of 4,861 individuals (= 1,417+940+2,504 individuals). In fact, we successfully integrated these three data sets by use of information on the reference human genome sequence, and we conducted the big data analysis. In particular, we constructed a phylogenetic tree of about 5,000 human individuals at the genome level. As a result, we were able to identify clusters of ethnic groups, with detectable admixture, that were not possible by an analysis of each of the three data sets. Here, we report the outcome of this kind of big data analyses and discuss evolutionary significance of human genomic variations. Note that the present study was conducted in collaboration with Katsuhiko Mineta and Kosuke Goto at KAUST.

  3. Synthesizing genome-wide association studies and expression microarray reveals novel genes that act in the human growth plate to modulate height.

    Science.gov (United States)

    Lui, Julian C; Nilsson, Ola; Chan, Yingleong; Palmer, Cameron D; Andrade, Anenisia C; Hirschhorn, Joel N; Baron, Jeffrey

    2012-12-01

    Previous meta-analysis of genome-wide association (GWA) studies has identified 180 loci that influence adult height. However, each GWA locus typically comprises a set of contiguous genes, only one of which presumably modulates height. We reasoned that many of the causative genes within these loci influence height because they are expressed in and function in the growth plate, a cartilaginous structure that causes bone elongation and thus determines stature. Therefore, we used expression microarray studies of mouse and rat growth plate, human disease databases and a mouse knockout phenotype database to identify genes within the GWAS loci that are likely required for normal growth plate function. Each of these approaches identified significantly more genes within the GWA height loci than at random genomic locations (P analysis strongly implicates 78 genes in growth plate function, including multiple genes that participate in PTHrP-IHH, BMP and CNP signaling, and many genes that have not previously been implicated in the growth plate. Thus, this analysis reveals a large number of novel genes that regulate human growth plate chondrogenesis and thereby contribute to the normal variations in human adult height. The analytic approach developed for this study may be applied to GWA studies for other common polygenic traits and diseases, thus providing a new general strategy to identify causative genes within GWA loci and to translate genetic associations into mechanistic biological insights.

  4. Seasonal variation in human reproduction: environmental factors.

    Science.gov (United States)

    Bronson, F H

    1995-06-01

    Almost all human populations exhibit seasonal variation in births, owing mostly to seasonal variation in the frequency of conception. This review focuses on the degree to which environmental factors like nutrition, temperature and photoperiod contribute to these seasonal patterns by acting directly on the reproductive axis. The reproductive strategy of humans is basically that of the apes: Humans have the capacity to reproduce continuously, albeit slowly, unless inhibited by environmental influences. Two, and perhaps three, environmental factors probably act routinely as seasonal inhibitors in some human populations. First, it seems likely that ovulation is regulated seasonally in populations experiencing seasonal variation in food availability. More specifically, it seems likely that inadequate food intake or the increased energy expenditure required to obtain food, or both, can delay menarche, suppress the frequency of ovulation in the nonlactating adult, and prolong lactational amenorrhea in these populations on a seasonal basis. This action is most easily seen in tropical subsistence societies where food availability often varies greatly owing to seasonal variation in rainfall; hence births in these populations often correlate with rainfall. Second, it seems likely that seasonally high temperatures suppress spermatogenesis enough to influence the incidence of fertilization in hotter latitudes, but possibly only in males wearing clothing that diminishes scrotal cooling. Since most of our knowledge about this phenomenon comes from temperate latitudes, the sensitivity of spermatogenesis in both human and nonhuman primates to heat in the tropics needs further study. It is quite possible that high temperatures suppress ovulation and early embryo survival seasonally in some of these same populations. Since we know less than desired about the effect of heat stress on ovulation and early pregnancy in nonhuman mammals, and nothing at all about it in humans or any of the

  5. Genetic variation in an individual human exome.

    Directory of Open Access Journals (Sweden)

    Pauline C Ng

    2008-08-01

    Full Text Available There is much interest in characterizing the variation in a human individual, because this may elucidate what contributes significantly to a person's phenotype, thereby enabling personalized genomics. We focus here on the variants in a person's 'exome,' which is the set of exons in a genome, because the exome is believed to harbor much of the functional variation. We provide an analysis of the approximately 12,500 variants that affect the protein coding portion of an individual's genome. We identified approximately 10,400 nonsynonymous single nucleotide polymorphisms (nsSNPs in this individual, of which approximately 15-20% are rare in the human population. We predict approximately 1,500 nsSNPs affect protein function and these tend be heterozygous, rare, or novel. Of the approximately 700 coding indels, approximately half tend to have lengths that are a multiple of three, which causes insertions/deletions of amino acids in the corresponding protein, rather than introducing frameshifts. Coding indels also occur frequently at the termini of genes, so even if an indel causes a frameshift, an alternative start or stop site in the gene can still be used to make a functional protein. In summary, we reduced the set of approximately 12,500 nonsilent coding variants by approximately 8-fold to a set of variants that are most likely to have major effects on their proteins' functions. This is our first glimpse of an individual's exome and a snapshot of the current state of personalized genomics. The majority of coding variants in this individual are common and appear to be functionally neutral. Our results also indicate that some variants can be used to improve the current NCBI human reference genome. As more genomes are sequenced, many rare variants and non-SNP variants will be discovered. We present an approach to analyze the coding variation in humans by proposing multiple bioinformatic methods to hone in on possible functional variation.

  6. Height outcome of the recombinant human growth hormone treatment in Turner syndrome: a meta-analysis

    Directory of Open Access Journals (Sweden)

    Ping Li

    2018-04-01

    Full Text Available Objective: This study sought to determine the effect of the recombinant human growth hormone (rhGH treatment of Turner syndrome (TS on height outcome. Methods: We searched in MEDLINE, EMBASE and Cochrane Central Register of Controlled Trials and Cochrane Database of Systematic Reviews. A literature search identified 640 records. After screening and full-text assessment, 11 records were included in the systematic review. Methodological quality was assessed using the Cochrane Risk of Bias tool. RevMan 5.3 software was used for meta-analysis. We also assessed the quality of evidence with the GRADE system. Results: Compared with controls, rhGH therapy led to increased final height (MD = 7.22 cm, 95% CI 5.27–9.18, P < 0.001, I2 = 4%; P = 0.18, height standard deviation (HtSDS (SMD = 1.22, 95% CI 0.88–1.56, P < 0.001, I2 = 49%; P = 0.14 and height velocity (HV (MD 2.68 cm/year; 95% CI 2.34, 3.02; P < 0.001, I2 = 0%; P = 0.72. There was a small increase in bone age (SMD 0.32 years; 95% CI 0.1, 0.54; P = 0.004, I2 = 73%; P = 0.02 after rhGH therapy for 12 months. What is more, the rhGH/oxandrolone combination therapy suggested greater final height (MD 2.46 cm; 95% CI 0.73, 4.18; P = 0.005, I2 = 32%; P = 0.22, increase and faster HV (SMD 1.67 cm/year; 95% CI 1.03, 2.31; P < 0.03, I2 = 80%; P < 0.001, with no significant increase in HtSDS and bone maturation compared with rhGH therapy alone. Conclusions: For TS patients, rhGH alone or with concomitant use of oxandrolone treatment had advantages on final height.

  7. HGVA: the Human Genome Variation Archive.

    Science.gov (United States)

    Lopez, Javier; Coll, Jacobo; Haimel, Matthias; Kandasamy, Swaathi; Tarraga, Joaquin; Furio-Tari, Pedro; Bari, Wasim; Bleda, Marta; Rueda, Antonio; Gräf, Stefan; Rendon, Augusto; Dopazo, Joaquin; Medina, Ignacio

    2017-07-03

    High-profile genomic variation projects like the 1000 Genomes project or the Exome Aggregation Consortium, are generating a wealth of human genomic variation knowledge which can be used as an essential reference for identifying disease-causing genotypes. However, accessing these data, contrasting the various studies and integrating those data in downstream analyses remains cumbersome. The Human Genome Variation Archive (HGVA) tackles these challenges and facilitates access to genomic data for key reference projects in a clean, fast and integrated fashion. HGVA provides an efficient and intuitive web-interface for easy data mining, a comprehensive RESTful API and client libraries in Python, Java and JavaScript for fast programmatic access to its knowledge base. HGVA calculates population frequencies for these projects and enriches their data with variant annotation provided by CellBase, a rich and fast annotation solution. HGVA serves as a proof-of-concept of the genome analysis developments being carried out by the University of Cambridge together with UK's 100 000 genomes project and the National Institute for Health Research BioResource Rare-Diseases, in particular, deploying open-source for Computational Biology (OpenCB) software platform for storing and analyzing massive genomic datasets. © The Author(s) 2017. Published by Oxford University Press on behalf of Nucleic Acids Research.

  8. Effect of Human Model Height and Sex on Induced Current Dosimetry in Household Induction Heater Users

    Science.gov (United States)

    Tarao, Hiroo; Hayashi, Noriyuki; Isaka, Katsuo

    Induced currents in the high-resolution, anatomical human models are numerically calculated by the impedance method. The human models are supposed to be exposed to highly inhomogeneous 20.9 kHz magnetic fields from a household induction heater (IH). In the case of the adult models, the currents ranging from 5 to 19 mA/m2 are induced for between the shoulder and lower abdomen. Meanwhile, in the case of the child models, the currents ranging from 5 to 21 mA/m2 are induced for between the head and abdomen. In particular, the induced currents near the brain tissue are almost the same as those near the abdomen. When the induced currents in the central nervous system tissues are considered, the induced currents in the child model are 2.1 to 6.9 times as large as those in the adult model under the same B-field exposure environment. These results suggest the importance of further investigation intended for a pregnant female who uses the IH as well as for a child (or the IH users of small standing height).

  9. An investigation of ionospheric upper transition height variations at low and equatorial latitudes deduced from combined COSMIC and C/NOFS measurements

    Science.gov (United States)

    Yang, Changjun; Zhao, Biqiang; Zhu, Jie; Yue, Xinan; Wan, Weixing

    2017-10-01

    In this study we propose the combination of topside in-situ ion density data from the Communication/Navigation Outage Forecast System (C/NOFS) along with the electron density profile measurement from Constellation Observing System for Meteorology, Ionosphere & Climate (COSMIC) satellites Radio Occultation (RO) for studying the spatial and temporal variations of the ionospheric upper transition height (hT) and the oxygen ion (O+) density scale height. The latitudinal, local time and seasonal distributions of upper transition height show more consistency between hT re-calculated by the profile of the O+ using an α-Chapman function with linearly variable scale height and that determined from direct in-situ ion composition measurements, than with constant scale height and only the COSMIC data. The discrepancy in the values of hT between the C/NOFS measurement and that derived by the combination of COSMIC and C/NOFS satellites observations with variable scale height turns larger as the solar activity decreases, which suggests that the photochemistry and the electrodynamics of the equatorial ionosphere during the extreme solar minimum period produce abnormal structures in the vertical plasma distribution. The diurnal variation of scale heights (Hm) exhibits a minimum after sunrise and a maximum around noon near the geomagnetic equator. Further, the values of Hm exhibit a maximum in the summer hemisphere during daytime, whereas in the winter hemisphere the maximum is during night. Those features of Hm consistently indicate the prominent role of the vertical electromagnetic (E × B) drift in the equatorial ionosphere.

  10. Modeling Individual Cyclic Variation in Human Behavior.

    Science.gov (United States)

    Pierson, Emma; Althoff, Tim; Leskovec, Jure

    2018-04-01

    Cycles are fundamental to human health and behavior. Examples include mood cycles, circadian rhythms, and the menstrual cycle. However, modeling cycles in time series data is challenging because in most cases the cycles are not labeled or directly observed and need to be inferred from multidimensional measurements taken over time. Here, we present Cyclic Hidden Markov Models (CyH-MMs) for detecting and modeling cycles in a collection of multidimensional heterogeneous time series data. In contrast to previous cycle modeling methods, CyHMMs deal with a number of challenges encountered in modeling real-world cycles: they can model multivariate data with both discrete and continuous dimensions; they explicitly model and are robust to missing data; and they can share information across individuals to accommodate variation both within and between individual time series. Experiments on synthetic and real-world health-tracking data demonstrate that CyHMMs infer cycle lengths more accurately than existing methods, with 58% lower error on simulated data and 63% lower error on real-world data compared to the best-performing baseline. CyHMMs can also perform functions which baselines cannot: they can model the progression of individual features/symptoms over the course of the cycle, identify the most variable features, and cluster individual time series into groups with distinct characteristics. Applying CyHMMs to two real-world health-tracking datasets-of human menstrual cycle symptoms and physical activity tracking data-yields important insights including which symptoms to expect at each point during the cycle. We also find that people fall into several groups with distinct cycle patterns, and that these groups differ along dimensions not provided to the model. For example, by modeling missing data in the menstrual cycles dataset, we are able to discover a medically relevant group of birth control users even though information on birth control is not given to the model.

  11. Variation of Maximum Tree Height and Annual Shoot Growth of Smith Fir at Various Elevations in the Sygera Mountains, Southeastern Tibetan Plateau

    Science.gov (United States)

    Wang, Yafeng; Čufar, Katarina; Eckstein, Dieter; Liang, Eryuan

    2012-01-01

    Little is known about tree height and height growth (as annual shoot elongation of the apical part of vertical stems) of coniferous trees growing at various altitudes on the Tibetan Plateau, which provides a high-elevation natural platform for assessing tree growth performance in relation to future climate change. We here investigated the variation of maximum tree height and annual height increment of Smith fir (Abies georgei var. smithii) in seven forest plots (30 m×40 m) along two altitudinal transects between 3,800 m and 4,200/4,390 m above sea level (a.s.l.) in the Sygera Mountains, southeastern Tibetan Plateau. Four plots were located on north-facing slopes and three plots on southeast-facing slopes. At each site, annual shoot growth was obtained by measuring the distance between successive terminal bud scars along the main stem of 25 trees that were between 2 and 4 m high. Maximum/mean tree height and mean annual height increment of Smith fir decreased with increasing altitude up to the tree line, indicative of a stress gradient (the dominant temperature gradient) along the altitudinal transect. Above-average mean minimum summer (particularly July) temperatures affected height increment positively, whereas precipitation had no significant effect on shoot growth. The time series of annual height increments of Smith fir can be used for the reconstruction of past climate on the southeastern Tibetan Plateau. In addition, it can be expected that the rising summer temperatures observed in the recent past and anticipated for the future will enhance Smith fir's growth throughout its altitudinal distribution range. PMID:22396738

  12. Sub-Compartment Variation in Tree Height, Stem Diameter and Stocking in a Pinus radiata D. Don Plantation Examined Using Airborne LiDAR Data

    Directory of Open Access Journals (Sweden)

    Hanieh Saremi

    2014-08-01

    Full Text Available Better information regarding the spatial variability of height, Diameter at Breast Height (DBH and stocking could improve inventory estimates at the operational Planning Unit since these parameters are used extensively in allometric equations, including stem volume, biomass and carbon calculations. In this study, the influence of stand stocking on height and DBH of two even aged radiata pine (Pinus radiata D. Don stands were investigated using airborne Light Detection and Ranging (LiDAR data at a study site in New South Wales, Australia. Both stands were characterized by irregular stocking due to patchy establishment and self-thinning in the absence of any silvicultural thinning events. For the purpose of this study, a total of 34 plots from a 34 year old site and 43 plots from a nine year old site were established, from which a total of 447 trees were sampled. Within these plots, DBH and height measurements were measured and their relationships with stocking were evaluated. LiDAR was used for height estimation as well as stem counts in fixed plots (stocking. The results showed a significant relationship between stem DBH and stocking. At both locations, trees with larger diameters were found on lower stocking sites. Height values were also significantly correlated with stocking, with taller trees associated with high stocking. These results were further verified of additional tree samples, with independent field surveys for DBH and LiDAR-derived metrics for height analysis. This study confirmed the relationship between P. radiata tree heights and stem diameter with stocking and demonstrated the capacity of LiDAR to capture sub-compartment variation in these tree-level attributes.

  13. Height Outcome of Recombinant Human Growth Hormone Treatment in Achondroplasia Children: A Meta-Analysis.

    Science.gov (United States)

    Miccoli, Mario; Bertelloni, Silvano; Massart, Francesco

    2016-01-01

    Although recombinant human growth hormone (rhGH) is not approved to treat short stature of achondroplasia (ACH), some studies suggested growth improvement during short-term rhGH treatment. A meta-analysis of rhGH therapy efficacy in ACH children was performed. From 12 English-language studies, 558 (54.0% males) rhGH-treated ACH children were enrolled. Administration of rhGH (median dosage 0.21 mg/kg/ week; range 0.16-0.42 mg/kg/week) improved height (Ht) from baseline [-5.069 standard deviation score (SDS; 95% CI -5.109 to -5.029); p < 0.0001] to 12 [-4.325 SDS (95% CI -4.363 to -4.287); p < 0.0001] and 24 months [-4.073 SDS (95% CI -4.128 to -4.019); p < 0.0001]. Then, Ht remained approximately constant up to 5 years [-3.941 SDS (95% CI -4.671 to -3.212); p < 0.0001]. In ACH children, rhGH treatment increased Ht from -5.0 to -4.0 SDS during 5 years, but insufficient data are available on both the adult Ht and the changes of body proportions. © 2016 S. Karger AG, Basel.

  14. Rare and low-frequency coding variants alter human adult height

    NARCIS (Netherlands)

    Marouli, Eirini; Graff, Mariaelisa; Medina-Gomez, Carolina; Lo, Ken Sin; Wood, Andrew R.; Kjaer, Troels R.; Fine, Rebecca S.; Lu, Yingchang; Schurmann, Claudia; Highland, Heather M.; Rüeger, Sina; Thorleifsson, Gudmar; Justice, Anne E.; Lamparter, David; Stirrups, Kathleen E.; Turcot, Valérie; Young, Kristin L.; Winkler, Thomas W.; Esko, Tõnu; Karaderi, Tugce; Locke, Adam E.; Masca, Nicholas G. D.; Ng, Maggie C. Y.; Mudgal, Poorva; Rivas, Manuel A.; Vedantam, Sailaja; Mahajan, Anubha; Guo, Xiuqing; Abecasis, Goncalo; Aben, Katja K.; Adair, Linda S.; Alam, Dewan S.; Albrecht, Eva; Allin, Kristine H.; Allison, Matthew; Amouyel, Philippe; Appel, Emil V.; Arveiler, Dominique; Asselbergs, Folkert W.; Auer, Paul L.; Balkau, Beverley; Banas, Bernhard; Bang, Lia E.; Benn, Marianne; Bergmann, Sven; Bielak, Lawrence F.; Blüher, Matthias; Boeing, Heiner; Boerwinkle, Eric; Böger, Carsten A.; Bonnycastle, Lori L.; Bork-Jensen, Jette; Bots, Michiel L.; Bottinger, Erwin P.; Bowden, Donald W.; Brandslund, Ivan; Breen, Gerome; Brilliant, Murray H.; Broer, Linda; Burt, Amber A.; Butterworth, Adam S.; Carey, David J.; Caulfield, Mark J.; Chambers, John C.; Chasman, Daniel I.; Chen, Yii-Der Ida; Chowdhury, Rajiv; Christensen, Cramer; Chu, Audrey Y.; Cocca, Massimiliano; Collins, Francis S.; Cook, James P.; Corley, Janie; Galbany, Jordi Corominas; Cox, Amanda J.; Cuellar-Partida, Gabriel; Danesh, John; Davies, Gail; de Bakker, Paul I. W.; de Borst, Gert J.; de Denus, Simon; de Groot, Mark C. H.; de Mutsert, Renée; Deary, Ian J.; Dedoussis, George; Demerath, Ellen W.; den Hollander, Anneke I.; Dennis, Joe G.; Di Angelantonio, Emanuele; Drenos, Fotios; Du, Mengmeng; Dunning, Alison M.; Easton, Douglas F.; Ebeling, Tapani; Edwards, Todd L.; Ellinor, Patrick T.; Elliott, Paul; Evangelou, Evangelos; Farmaki, Aliki-Eleni; Faul, Jessica D.; Feitosa, Mary F.; Feng, Shuang; Ferrannini, Ele; Ferrario, Marco M.; Ferrieres, Jean; Florez, Jose C.; Ford, Ian; Fornage, Myriam; Franks, Paul W.; Frikke-Schmidt, Ruth; Galesloot, Tessel E.; Gan, Wei; Gandin, Ilaria; Gasparini, Paolo; Giedraitis, Vilmantas; Giri, Ayush; Girotto, Giorgia; Gordon, Scott D.; Gordon-Larsen, Penny; Gorski, Mathias; Grarup, Niels; Grove, Megan L.; Gudnason, Vilmundur; Gustafsson, Stefan; Hansen, Torben; Harris, Kathleen Mullan; Harris, Tamara B.; Hattersley, Andrew T.; Hayward, Caroline; He, Liang; Heid, Iris M.; Heikkilä, Kauko; Helgeland, Øyvind; Hernesniemi, Jussi; Hewitt, Alex W.; Hocking, Lynne J.; Hollensted, Mette; Holmen, Oddgeir L.; Hovingh, G. Kees; Howson, Joanna M. M.; Hoyng, Carel B.; Huang, Paul L.; Hveem, Kristian; Ikram, M. Arfan; Ingelsson, Erik; Jackson, Anne U.; Jansson, Jan-Håkan; Jarvik, Gail P.; Jensen, Gorm B.; Jhun, Min A.; Jia, Yucheng; Jiang, Xuejuan; Johansson, Stefan; Jørgensen, Marit E.; Jørgensen, Torben; Jousilahti, Pekka; Jukema, J. Wouter; Kahali, Bratati; Kahn, René S.; Kähönen, Mika; Kamstrup, Pia R.; Kanoni, Stavroula; Kaprio, Jaakko; Karaleftheri, Maria; Kardia, Sharon L. R.; Karpe, Fredrik; Kee, Frank; Keeman, Renske; Kiemeney, Lambertus A.; Kitajima, Hidetoshi; Kluivers, Kirsten B.; Kocher, Thomas; Komulainen, Pirjo; Kontto, Jukka; Kooner, Jaspal S.; Kooperberg, Charles; Kovacs, Peter; Kriebel, Jennifer; Kuivaniemi, Helena; Küry, Sébastien; Kuusisto, Johanna; La Bianca, Martina; Laakso, Markku; Lakka, Timo A.; Lange, Ethan M.; Lange, Leslie A.; Langefeld, Carl D.; Langenberg, Claudia; Larson, Eric B.; Lee, I.-Te; Lehtimäki, Terho; Lewis, Cora E.; Li, Huaixing; Li, Jin; Li-Gao, Ruifang; Lin, Honghuang; Lin, Li-An; Lin, Xu; Lind, Lars; Lindström, Jaana; Linneberg, Allan; Liu, Yeheng; Liu, Yongmei; Lophatananon, Artitaya; Luan, Jian'an; Lubitz, Steven A.; Lyytikäinen, Leo-Pekka; Mackey, David A.; Madden, Pamela A. F.; Manning, Alisa K.; Männistö, Satu; Marenne, Gaëlle; Marten, Jonathan; Martin, Nicholas G.; Mazul, Angela L.; Meidtner, Karina; Metspalu, Andres; Mitchell, Paul; Mohlke, Karen L.; Mook-Kanamori, Dennis O.; Morgan, Anna; Morris, Andrew D.; Morris, Andrew P.; Müller-Nurasyid, Martina; Munroe, Patricia B.; Nalls, Mike A.; Nauck, Matthias; Nelson, Christopher P.; Neville, Matt; Nielsen, Sune F.; Nikus, Kjell; Njølstad, Pål R.; Nordestgaard, Børge G.; Ntalla, Ioanna; O'Connel, Jeffrey R.; Oksa, Heikki; Loohuis, Loes M. Olde; Ophoff, Roel A.; Owen, Katharine R.; Packard, Chris J.; Padmanabhan, Sandosh; Palmer, Colin N. A.; Pasterkamp, Gerard; Patel, Aniruddh P.; Pattie, Alison; Pedersen, Oluf; Peissig, Peggy L.; Peloso, Gina M.; Pennell, Craig E.; Perola, Markus; Perry, James A.; Perry, John R. B.; Person, Thomas N.; Pirie, Ailith; Polasek, Ozren; Posthuma, Danielle; Raitakari, Olli T.; Rasheed, Asif; Rauramaa, Rainer; Reilly, Dermot F.; Reiner, Alex P.; Renström, Frida; Ridker, Paul M.; Rioux, John D.; Robertson, Neil; Robino, Antonietta; Rolandsson, Olov; Rudan, Igor; Ruth, Katherine S.; Saleheen, Danish; Salomaa, Veikko; Samani, Nilesh J.; Sandow, Kevin; Sapkota, Yadav; Sattar, Naveed; Schmidt, Marjanka K.; Schreiner, Pamela J.; Schulze, Matthias B.; Scott, Robert A.; Segura-Lepe, Marcelo P.; Shah, Svati; Sim, Xueling; Sivapalaratnam, Suthesh; Small, Kerrin S.; Smith, Albert Vernon; Smith, Jennifer A.; Southam, Lorraine; Spector, Timothy D.; Speliotes, Elizabeth K.; Starr, John M.; Steinthorsdottir, Valgerdur; Stringham, Heather M.; Stumvoll, Michael; Surendran, Praveen; 't Hart, Leen M.; Tansey, Katherine E.; Tardif, Jean-Claude; Taylor, Kent D.; Teumer, Alexander; Thompson, Deborah J.; Thorsteinsdottir, Unnur; Thuesen, Betina H.; Tönjes, Anke; Tromp, Gerard; Trompet, Stella; Tsafantakis, Emmanouil; Tuomilehto, Jaakko; Tybjaerg-Hansen, Anne; Tyrer, Jonathan P.; Uher, Rudolf; Uitterlinden, André G.; Ulivi, Sheila; van der Laan, Sander W.; van der Leij, Andries R.; van Duijn, Cornelia M.; van Schoor, Natasja M.; van Setten, Jessica; Varbo, Anette; Varga, Tibor V.; Varma, Rohit; Edwards, Digna R. Velez; Vermeulen, Sita H.; Vestergaard, Henrik; Vitart, Veronique; Vogt, Thomas F.; Vozzi, Diego; Walker, Mark; Wang, Feijie; Wang, Carol A.; Wang, Shuai; Wang, Yiqin; Wareham, Nicholas J.; Warren, Helen R.; Wessel, Jennifer; Willems, Sara M.; Wilson, James G.; Witte, Daniel R.; Woods, Michael O.; Wu, Ying; Yaghootkar, Hanieh; Yao, Jie; Yao, Pang; Yerges-Armstrong, Laura M.; Young, Robin; Zeggini, Eleftheria; Zhan, Xiaowei; Zhang, Weihua; Zhao, Jing Hua; Zhao, Wei; Zheng, He; Zhou, Wei; Rotter, Jerome I.; Boehnke, Michael; Kathiresan, Sekar; McCarthy, Mark I.; Willer, Cristen J.; Stefansson, Kari; Borecki, Ingrid B.; Liu, Dajiang J.; North, Kari E.; Heard-Costa, Nancy L.; Pers, Tune H.; Lindgren, Cecilia M.; Oxvig, Claus; Kutalik, Zoltán; Rivadeneira, Fernando; Loos, Ruth J. F.; Frayling, Timothy M.; Hirschhorn, Joel N.; Deloukas, Panos; Lettre, Guillaume

    2017-01-01

    Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1-4.8%) and effects of up to

  15. Genomic variation landscape of the human gut microbiome

    DEFF Research Database (Denmark)

    Schloissnig, Siegfried; Arumugam, Manimozhiyan; Sunagawa, Shinichi

    2013-01-01

    Whereas large-scale efforts have rapidly advanced the understanding and practical impact of human genomic variation, the practical impact of variation is largely unexplored in the human microbiome. We therefore developed a framework for metagenomic variation analysis and applied it to 252 faecal...... polymorphism rates of 0.11 was more variable between gut microbial species than across human hosts. Subjects sampled at varying time intervals exhibited individuality and temporal stability of SNP variation patterns, despite considerable composition changes of their gut microbiota. This indicates...

  16. Child Development and Structural Variation in the Human Genome

    Science.gov (United States)

    Zhang, Ying; Haraksingh, Rajini; Grubert, Fabian; Abyzov, Alexej; Gerstein, Mark; Weissman, Sherman; Urban, Alexander E.

    2013-01-01

    Structural variation of the human genome sequence is the insertion, deletion, or rearrangement of stretches of DNA sequence sized from around 1,000 to millions of base pairs. Over the past few years, structural variation has been shown to be far more common in human genomes than previously thought. Very little is currently known about the effects…

  17. Are Human Mating Preferences with Respect to Height Reflected in Actual Pairings?

    OpenAIRE

    Stulp, Gert; Buunk, Abraham P.; Pollet, Thomas V.; Nettle, Daniel; Verhulst, Simon

    2013-01-01

    Pair formation, acquiring a mate to form a reproductive unit, is a complex process. Mating preferences are a step in this process. However, due to constraining factors such as availability of mates, rival competition, and mutual mate choice, preferred characteristics may not be realised in the actual partner. People value height in their partner and we investigated to what extent preferences for height are realised in actual couples. We used data from the Millennium Cohort Study (UK) and comp...

  18. Are human mating preferences with respect to height reflected in actual pairings?

    Science.gov (United States)

    Stulp, Gert; Buunk, Abraham P; Pollet, Thomas V; Nettle, Daniel; Verhulst, Simon

    2013-01-01

    Pair formation, acquiring a mate to form a reproductive unit, is a complex process. Mating preferences are a step in this process. However, due to constraining factors such as availability of mates, rival competition, and mutual mate choice, preferred characteristics may not be realised in the actual partner. People value height in their partner and we investigated to what extent preferences for height are realised in actual couples. We used data from the Millennium Cohort Study (UK) and compared the distribution of height difference in actual couples to simulations of random mating to test how established mate preferences map on to actual mating patterns. In line with mate preferences, we found evidence for: (i) assortative mating (r = .18), (ii) the male-taller norm, and, for the first time, (iii) for the male-not-too-tall norm. Couples where the male partner was shorter, or over 25 cm taller than the female partner, occurred at lower frequency in actual couples than expected by chance, but the magnitude of these effects was modest. We also investigated another preference rule, namely that short women (and tall men) prefer large height differences with their partner, whereas tall women (and short men) prefer small height differences. These patterns were also observed in our population, although the strengths of these associations were weaker than previously reported strength of preferences. We conclude that while preferences for partner height generally translate into actual pairing, they do so only modestly.

  19. Are human mating preferences with respect to height reflected in actual pairings?

    Directory of Open Access Journals (Sweden)

    Gert Stulp

    Full Text Available Pair formation, acquiring a mate to form a reproductive unit, is a complex process. Mating preferences are a step in this process. However, due to constraining factors such as availability of mates, rival competition, and mutual mate choice, preferred characteristics may not be realised in the actual partner. People value height in their partner and we investigated to what extent preferences for height are realised in actual couples. We used data from the Millennium Cohort Study (UK and compared the distribution of height difference in actual couples to simulations of random mating to test how established mate preferences map on to actual mating patterns. In line with mate preferences, we found evidence for: (i assortative mating (r = .18, (ii the male-taller norm, and, for the first time, (iii for the male-not-too-tall norm. Couples where the male partner was shorter, or over 25 cm taller than the female partner, occurred at lower frequency in actual couples than expected by chance, but the magnitude of these effects was modest. We also investigated another preference rule, namely that short women (and tall men prefer large height differences with their partner, whereas tall women (and short men prefer small height differences. These patterns were also observed in our population, although the strengths of these associations were weaker than previously reported strength of preferences. We conclude that while preferences for partner height generally translate into actual pairing, they do so only modestly.

  20. Big Data Analysis of Human Genome Variations

    KAUST Repository

    Gojobori, Takashi

    2016-01-01

    Since the human genome draft sequence was in public for the first time in 2000, genomic analyses have been intensively extended to the population level. The following three international projects are good examples for large-scale studies of human

  1. Genetic variation in a member of the laminin gene family affects variation in body composition in Drosophila and humans

    Directory of Open Access Journals (Sweden)

    Hunter Gary R

    2008-08-01

    Full Text Available Abstract Background The objective of the present study was to map candidate loci influencing naturally occurring variation in triacylglycerol (TAG storage using quantitative complementation procedures in Drosophila melanogaster. Based on our results from Drosophila, we performed a human population-based association study to investigate the effect of natural variation in LAMA5 gene on body composition in humans. Results We identified four candidate genes that contributed to differences in TAG storage between two strains of D. melanogaster, including Laminin A (LanA, which is a member of the α subfamily of laminin chains. We confirmed the effects of this gene using a viable LanA mutant and showed that female flies homozygous for the mutation had significantly lower TAG storage, body weight, and total protein content than control flies. Drosophila LanA is closely related to human LAMA5 gene, which maps to the well-replicated obesity-linkage region on chromosome 20q13.2-q13.3. We tested for association between three common single nucleotide polymorphisms (SNPs in the human LAMA5 gene and variation in body composition and lipid profile traits in a cohort of unrelated women of European American (EA and African American (AA descent. In both ethnic groups, we found that SNP rs659822 was associated with weight (EA: P = 0.008; AA: P = 0.05 and lean mass (EA: P= 0.003; AA: P = 0.03. We also found this SNP to be associated with height (P = 0.01, total fat mass (P = 0.01, and HDL-cholesterol (P = 0.003 but only in EA women. Finally, significant associations of SNP rs944895 with serum TAG levels (P = 0.02 and HDL-cholesterol (P = 0.03 were observed in AA women. Conclusion Our results suggest an evolutionarily conserved role of a member of the laminin gene family in contributing to variation in weight and body composition.

  2. An efficient approach to characterizing and calculating carrier loss due to heating and barrier height variation in vertical-cavity surface-emitting lasers

    International Nuclear Information System (INIS)

    Jian, Wu; Summers, H. D.

    2010-01-01

    It is important to determine quantitatively the internal carrier loss arising from heating and barrier height variation in a vertical-cavity surface-emitting quantum well laser (VCSEL). However, it is generally difficult to realize this goal using purely theoretical formulas due to difficulty in deriving the parameters relating to the quantum well structure. In this paper, we describe an efficient approach to characterizing and calculating the carrier loss due to the heating and the barrier height change in the VCSEL. In the method, the thermal carrier loss mechanism is combined with gain measurement and calculation. The carrier loss is re-characterized in a calculable form by constructing the threshold current and gain detuning-related loss current using the measured gain data and then substituting them for the quantum well-related parameters in the formula. The result can be expressed as a product of an exponential weight factor linked to the barrier height change and the difference between the threshold current and gain detuning-related loss current. The gain variation at cavity frequency due to thermal carrier loss and gain detuning processes is measured by using an AlInGaAs–AlGaAs VCSEL structure. This work provides a useful approach to analysing threshold and loss properties of the VCSEL, particularly, gain offset design for high temperature operation of VCSELs. (classical areas of phenomenology)

  3. Cyclic Variations in Sustained Human Performance

    Science.gov (United States)

    Aue, William R.; Arruda, James E.; Kass, Steven J.; Stanny, Claudia J.

    2009-01-01

    Biological rhythms play a prominent role in the modulation of human physiology and behavior. [Smith, K., Valentino, D., & Arruda, J. (2003). "Rhythmic oscillations in the performance of a sustained attention task." "Journal of Clinical and Experimental Neuropsychology," 25, 561-570] suggested that sustained human performance may systematically…

  4. Rare and low-frequency coding variants alter human adult height

    DEFF Research Database (Denmark)

    Marouli, Eirini; Graff, Mariaelisa; Medina-Gomez, Carolina

    2017-01-01

    to 2 centimetres per allele (such as those in IHH, STC2, AR and CRISPLD2), greater than ten times the average effect of common variants. In functional follow-up studies, rare height-increasing alleles of STC2 (giving an increase of 1-2 centimetres per allele) compromised proteolytic inhibition of PAPP...

  5. On the height variation of the E-region cowling conductivity – effect of charged dust particles

    Directory of Open Access Journals (Sweden)

    P. Muralikrishna

    2006-11-01

    Full Text Available Height profiles of the Cowling conductivity in the electrojet region, estimated using the atmospheric parameters given by the existing models like CIRA or MSIS and measured electron density profiles, consistently show the heights of the electrojet current intensity peak to be more than 3 km below those estimated from in-situ measurements using magnetometers on board sounding rockets. Kulkarni and Muralikrishna (2005 attempted to explain this to be due to the effect of neutral dust particles. They reported that neutral dust particles, when they exist in sufficient numbers, can modify the collision parameters, especially in the lower E-region, where dust particles of meteoric origin are known to exist in large numbers, and thereby can modify the Cowling conductivity profile in the electrojet region. This work is extended here to include the effect of charged dust particles. Dust particles can become charged negatively by the attachment of ambient free electrons, and can thus reduce the number density of free electrons especially below the electrojet peak. This can alter the vertical profile of the east-west Hall current driven by the vertical Hall polarization field, thereby causing a net reduction in the electrojet current. Such a decrease in the electrojet current may be observed on the ground magnetograms. This mechanism, as proposed here, can operate only during periods of strong meteor shower activity, when the dust particle density at the assumed deposit height of 103 km can reach extreme values (for example, 5×104 cm−3 of 1-µm diameter dust particles. Such a dense dust layer may even cause a reversal in the normally upward vertical Hall polarization field, within the dust layer, causing a reversal of the electrojet currents below the current peak.

  6. The height variation of supergranular velocity fields determined from simultaneous OSO 8 satellite and ground-based observations

    Science.gov (United States)

    November, L. J.; Toomre, J.; Gebbie, K. B.; Simon, G. W.

    1979-01-01

    Results are reported for simultaneous satellite and ground-based observations of supergranular velocities in the sun, which were made using a UV spectrometer aboard OSO 8 and a diode-array instrument operating at the exit slit of an echelle spectrograph attached to a vacuum tower telescope. Observations of the steady Doppler velocities seen toward the limb in the middle chromosphere and the photosphere are compared; the observed spectral lines of Si II at 1817 A and Fe I at 5576 A are found to differ in height of formation by about 1400 km. The results show that supergranular motions are able to penetrate at least 11 density scale heights into the middle chromosphere, that the patterns of motion correlate well with the cellular structure seen in the photosphere, and that the motion increases from about 800 m/s in the photosphere to at least 3000 m/s in the middle chromosphere. These observations imply that supergranular velocities should be evident in the transition region and that strong horizontal shear layers in supergranulation should produce turbulence and internal gravity waves.

  7. Height outcome of the recombinant human growth hormone treatment in patients with SHOX gene haploinsufficiency: a meta-analysis.

    Science.gov (United States)

    Massart, Francesco; Bizzi, Martina; Baggiani, Angelo; Miccoli, Mario

    2013-04-01

    Patients with mutations or deletions of the SHOX gene present variable growth impairment, with or without mesomelic skeletal dysplasia. If untreated, short patients with SHOX haplodeficiency (SHOXD) remain short into adulthood. Although recombinant human growth hormone (rhGH) treatment improves short-term linear growth, there are episodic data on the final height of treated SHOXD subjects. After a thorough search of the published literature for pertinent studies, we undertook a meta-analysis evaluation of the efficacy and safety of rhGH treatment in SHOXD patients. In SHOXD patients, administration of rhGH progressively improved the height deficit from baseline to 24 months, although the major catch-up growth was detected after 12 months. The rhGH-induced growth appeared constant until final height. Our meta-analysis suggested rhGH therapy improves height outcome of SHOXD patients, though future studies using carefully titrated rhGH protocols are needed. Original submitted 29 October 2012; Revision submitted 22 February 2013.

  8. Height preferences in humans may not be universal: evidence from the Datoga people of Tanzania.

    Science.gov (United States)

    Sorokowski, P; Butovskaya, M L

    2012-09-01

    Many studies in Western societies have shown that women prefer relatively taller men as potential partners, whereas men prefer women who are slightly shorter than themselves. Here, we discuss possible limitations of previous results within the context of the stimuli used (i.e., differences in the perceived body size of female silhouettes). Our results show that, at least in a Polish sample (N=231), modified stimuli did not essentially change the observed male-taller preferences. In contrast, we report height preferences in a traditional ethnic group, the Datoga people from Tanzania (N=107), in which men and women preferred extreme sexual dimorphism in stature (SDS) sets (i.e., men and women chose women much taller or much shorter than themselves). Thus, our data do not accord with the suggestion of a universal preference for taller men, but rather suggests that height preferences may be influenced by cultural, environmental, and ecological conditions. Copyright © 2012 Elsevier Ltd. All rights reserved.

  9. Variation in alternative splicing across human tissues

    OpenAIRE

    Yeo, Gene; Holste, Dirk; Kreiman, Gabriel; Burge, Christopher B

    2004-01-01

    Background: Alternative pre-mRNA splicing (AS) is widely used by higher eukaryotes to generate different protein isoforms in specific cell or tissue types. To compare AS events across human tissues, we analyzed the splicing patterns of genomically aligned expressed sequence tags (ESTs) derived from libraries of cDNAs from different tissues. Results: Controlling for differences in EST coverage among tissues, we found that the brain and testis had the highest levels of exon skipping. The most p...

  10. Variation of Human Salivary O-Glycome.

    Directory of Open Access Journals (Sweden)

    Radoslaw P Kozak

    Full Text Available The study of saliva O-glycosylation is receiving increasing attention due to the potential of glycans for disease biomarkers, but also due to easy access and non-invasive collection of saliva as biological fluid. Saliva is rich in glycoproteins which are secreted from the bloodstream or produced by salivary glands. Mucins, which are highly O-glycosylated proteins, are particularly abundant in human saliva. Their glycosylation is associated with blood group and secretor status, and represents a reservoir of potential disease biomarkers. This study aims to analyse and compare O-glycans released from whole human mouth saliva collected 3 times a day from a healthy individual over a 5 days period. O-linked glycans were released by hydrazinolysis, labelled with procainamide and analysed by ultra-high performance liquid chromatography with fluorescence detection (UHPLC-FLR coupled to electrospray ionization mass spectrometry (ESI-MS/MS. The sample preparation method showed excellent reproducibility and can therefore be used for biomarker discovery. Our data demonstrates that the O-glycosylation in human saliva changes significantly during the day. These changes may be related to changes in the salivary concentrations of specific proteins.

  11. Host genetic variation impacts microbiome composition across human body sites.

    Science.gov (United States)

    Blekhman, Ran; Goodrich, Julia K; Huang, Katherine; Sun, Qi; Bukowski, Robert; Bell, Jordana T; Spector, Timothy D; Keinan, Alon; Ley, Ruth E; Gevers, Dirk; Clark, Andrew G

    2015-09-15

    The composition of bacteria in and on the human body varies widely across human individuals, and has been associated with multiple health conditions. While microbial communities are influenced by environmental factors, some degree of genetic influence of the host on the microbiome is also expected. This study is part of an expanding effort to comprehensively profile the interactions between human genetic variation and the composition of this microbial ecosystem on a genome- and microbiome-wide scale. Here, we jointly analyze the composition of the human microbiome and host genetic variation. By mining the shotgun metagenomic data from the Human Microbiome Project for host DNA reads, we gathered information on host genetic variation for 93 individuals for whom bacterial abundance data are also available. Using this dataset, we identify significant associations between host genetic variation and microbiome composition in 10 of the 15 body sites tested. These associations are driven by host genetic variation in immunity-related pathways, and are especially enriched in host genes that have been previously associated with microbiome-related complex diseases, such as inflammatory bowel disease and obesity-related disorders. Lastly, we show that host genomic regions associated with the microbiome have high levels of genetic differentiation among human populations, possibly indicating host genomic adaptation to environment-specific microbiomes. Our results highlight the role of host genetic variation in shaping the composition of the human microbiome, and provide a starting point toward understanding the complex interaction between human genetics and the microbiome in the context of human evolution and disease.

  12. A Wireless Sensor Network Framework for Real-Time Monitoring of Height and Volume Variations on Sandy Beaches and Dunes

    Directory of Open Access Journals (Sweden)

    Alessandro Pozzebon

    2018-04-01

    Full Text Available In this paper, the authors describe the realization and testing of a Wireless Sensor Network (WSN framework aiming at measuring, remotely and in real time, the level variations of the sand layer of sandy beaches or dunes. The proposed framework is based on an innovative low cost sensing structure, able to measure the level variations with a 5-cm degree of precision and to locally transfer the acquired data through the ZigBee protocol. The described sensor is integrated in a wider ZigBee wireless sensor network architecture composed of an array of sensors that, arranged according to a grid layout, can acquire the same data at different points, allowing the definition of a dynamic map of the area under study. The WSN is connected to a local Global System for Mobile Communications (GSM gateway that is in charge of data processing and transmission to a cloud infrastructure through a General Packet Radio Service (GPRS connection. Data are then stored in a MySQL database and made available any time and anywhere through the Internet. The proposed architecture has been tested in a laboratory, to analyze data acquisition, processing timing and power consumption and then in situ to prove the effectiveness of the system. The described infrastructure is expected to be integrated in a wider IoT architecture including different typologies of sensors, in order to create a multi-purpose tool for the study of coastal erosive processes.

  13. Hundreds of variants clustered in genomic loci and biological pathways affect human height

    NARCIS (Netherlands)

    H.L. Allen; K. Estrada Gil (Karol); G. Lettre (Guillaume); S.I. Berndt (Sonja); F. Rivadeneira Ramirez (Fernando); C.J. Willer (Cristen); A.U. Jackson (Anne); S. Vedantam (Sailaja); S. Raychaudhuri (Soumya); T. Ferreira (Teresa); A.R. Wood (Andrew); R.J. Weyant (Robert); A.V. Segrè (Ayellet); E.K. Speliotes (Elizabeth); E. Wheeler (Eleanor); N. Soranzo (Nicole); J.H. Park; J. Yang (Joanna); D.F. Gudbjartsson (Daniel); N.L. Heard-Costa (Nancy); J.C. Randall (Joshua); L. Qi (Lu); A.V. Smith (Albert Vernon); R. Mägi (Reedik); T. Pastinen (Tomi); L. Liang (Liming); I.M. Heid (Iris); J. Luan; G. Thorleifsson (Gudmar); T.W. Winkler (Thomas); M.E. Goddard (Michael); K.S. Lo; C. Palmer (Cameron); T. Workalemahu (Tsegaselassie); Y.S. Aulchenko (Yurii); A. Johansson (Åsa); M.C. Zillikens (Carola); M.F. Feitosa (Mary Furlan); T. Esko (Tõnu); T. Johnson (Toby); S. Ketkar (Shamika); P. Kraft (Peter); M. Mangino (Massimo); I. Prokopenko (Inga); D. Absher (Devin); E. Albrecht (Eva); F.D.J. Ernst (Florian); N.L. Glazer (Nicole); C. Hayward (Caroline); J.J. Hottenga (Jouke Jan); K.B. Jacobs (Kevin); J.W. Knowles (Joshua); Z. Kutalik (Zoltán); K.L. Monda (Keri); O. Polasek (Ozren); M. Preuss (Michael); N.W. Rayner (Nigel William); N.R. Robertson (Neil); V. Steinthorsdottir (Valgerdur); J.P. Tyrer (Jonathan); B.F. Voight (Benjamin); F. Wiklund (Fredrik); J. Xu (Jianfeng); J.H. Zhao (Jing Hua); D.R. Nyholt (Dale); N. Pellikka (Niina); M. Perola (Markus); J.R.B. Perry (John); I. Surakka (Ida); M.L. Tammesoo; E.L. Altmaier (Elizabeth); N. Amin (Najaf); T. Aspelund (Thor); T. Bhangale (Tushar); G. Boucher (Gabrielle); D.I. Chasman (Daniel); C. Chen (Constance); L. Coin (Lachlan); M.N. Cooper (Matthew); A.L. Dixon (Anna); Q. Gibson (Quince); E. Grundberg (Elin); K. Hao (Ke); M.J. Junttila (Juhani); R.C. Kaplan (Robert); J. Kettunen (Johannes); I.R. König (Inke); T. Kwan (Tony); R.W. Lawrence (Robert); D.F. Levinson (Douglas); M. Lorentzon (Mattias); B. McKnight (Barbara); A.D. Morris (Andrew); M. Müller (Martina); J.S. Ngwa; S. Purcell (Shaun); S. Rafelt (Suzanne); R.M. Salem (Rany); E. Salvi (Erika); S. Sanna (Serena); J. Shi (Jianxin); U. Sovio (Ulla); J.R. Thompson (John); M.C. Turchin (Michael); L. Vandenput (Liesbeth); D.J. Verlaan (Dominique); V. Vitart (Veronique); C.C. White (Charles); A. Ziegler (Andreas); P. Almgren (Peter); A.J. Balmforth (Anthony); H. Campbell (Harry); L. Citterio (Lorena); A. de Grandi (Alessandro); A. Dominiczak (Anna); J. Duan (Jubao); P. Elliott (Paul); R. Elosua (Roberto); J.G. Eriksson (Johan); N.B. Freimer (Nelson); E.J.C. de Geus (Eco); N. Glorioso (Nicola); S. Haiqing (Shen); A.L. Hartikainen; A.S. Havulinna (Aki); A.A. Hicks (Andrew); J. Hui (Jennie); W. Igl (Wilmar); T. Illig (Thomas); A. Jula (Antti); E. Kajantie (Eero); T.O. Kilpeläinen (Tuomas); M. Koiranen (Markku); I. Kolcic (Ivana); S. Koskinen (Seppo); P. Kovacs (Peter); J. Laitinen (Jaana); J. Liu (Jianjun); M.L. Lokki; A. Marusic (Ana); A. Maschio; T. Meitinger (Thomas); A. Mulas (Antonella); G. Paré (Guillaume); A.N. Parker (Alex); J. Peden (John); A. Petersmann (Astrid); I. Pichler (Irene); K.H. Pietilainen (Kirsi Hannele); A. Pouta (Anneli); M. Ridderstråle (Martin); J.I. Rotter (Jerome); J.G. Sambrook (Jennifer); A.R. Sanders (Alan); C.O. Schmidt (Carsten Oliver); J. Sinisalo (Juha); J.H. Smit (Jan); H.M. Stringham (Heather); G.B. Walters (Bragi); E. Widen (Elisabeth); S.H. Wild (Sarah); G.A.H.M. Willemsen (Gonneke); L. Zagato (Laura); L. Zgaga (Lina); P. Zitting (Paavo); H. Alavere (Helene); M. Farrall (Martin); W.L. McArdle (Wendy); M. Nelis (Mari); M.J. Peters (Marjolein); S. Ripatti (Samuli); J.B.J. van Meurs (Joyce); K.K.H. Aben (Katja); J.S. Beckmann (Jacques); J.P. Beilby (John); R.N. Bergman (Richard); S.M. Bergmann (Sven); F.S. Collins (Francis); D. Cusi (Daniele); M. den Heijer (Martin); G. Eiriksdottir (Gudny); P.V. Gejman (Pablo); A.S. Hall (Alistair); A. Hamsten (Anders); H.V. Huikuri (Heikki); C. Iribarren (Carlos); M. Kähönen (Mika); J. Kaprio (Jaakko); S. Kathiresan (Sekar); L.A.L.M. Kiemeney (Bart); T. Kocher (Thomas); L.J. Launer (Lenore); T. Lehtimäki (Terho); O. Melander (Olle); T.H. Mosley (Thomas); A.W. Musk (Arthur); M.S. Nieminen (Markku); C.J. O'Donnell (Christopher); C. Ohlsson (Claes); B.A. Oostra (Ben); O. Raitakari (Olli); P.M. Ridker (Paul); J.D. Rioux (John); A. Rissanen (Aila); C. Rivolta (Carlo); H. Schunkert (Heribert); A.R. Shuldiner (Alan); D.S. Siscovick (David); M. Stumvoll (Michael); A. Tönjes (Anke); J. Tuomilehto (Jaakko); G.J. van Ommen (Gert); J. Viikari (Jorma); A.C. Heath (Andrew); N.G. Martin (Nicholas); G.W. Montgomery (Grant); M.A. Province (Mike); M.H. Kayser (Manfred); A.M. Arnold (Alice); L.D. Atwood (Larry); E.A. Boerwinkle (Eric); S.J. Chanock (Stephen); P. Deloukas (Panagiotis); C. Gieger (Christian); H. Grönberg (Henrik); A.T. Hattersley (Andrew); C. Hengstenberg (Christian); W. Hoffman (Wolfgang); G.M. Lathrop (Mark); V. Salomaa (Veikko); S. Schreiber (Stefan); M. Uda (Manuela); D. Waterworth (Dawn); A.F. Wright (Alan); T.L. Assimes (Themistocles); I.E. Barroso (Inês); A. Hofman (Albert); K.L. Mohlke (Karen); D.I. Boomsma (Dorret); M. Caulfield (Mark); L.A. Cupples (Adrienne); C.S. Fox (Caroline); V. Gudnason (Vilmundur); U. Gyllensten (Ulf); T.B. Harris (Tamara); R.B. Hayes (Richard); M.R. Järvelin; V. Mooser (Vincent); P. Munroe (Patricia); W.H. Ouwehand (Willem); B.W.J.H. Penninx (Brenda); P.P. Pramstaller (Peter Paul); T. Quertermous (Thomas); I. Rudan (Igor); N.J. Samani (Nilesh); T.D. Spector (Timothy); H. Völzke (Henry); H. Watkins (Hugh); J.F. Wilson (James); L. Groop (Leif); T. Haritunians (Talin); F.B. Hu (Frank); A. Metspalu (Andres); K.E. North (Kari); D. Schlessinger; N.J. Wareham (Nick); D.J. Hunter (David); J.R. O´Connell; D.P. Strachan (David); H.E. Wichmann (Heinz Erich); I.B. Borecki (Ingrid); C.M. van Duijn (Cornelia); E.E. Schadt (Eric); U. Thorsteinsdottir (Unnur); L. Peltonen (Leena Johanna); A.G. Uitterlinden (André); P.M. Visscher (Peter); N. Chatterjee (Nilanjan); J. Erdmann (Jeanette); R.J.F. Loos (Ruth); M. Boehnke (Michael); M.I. McCarthy (Mark); E. Ingelsson (Erik); C.M. Lindgren (Cecilia); G.R. Abecasis (Gonçalo); K. Stefansson (Kari); T.M. Frayling (Timothy); J.N. Hirschhorn (Joel); K.G. Ardlie (Kristin); M.N. Weedon (Michael)

    2010-01-01

    textabstractMost common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits1, but these typically explain small

  14. Hundreds of variants clustered in genomic loci and biological pathways affect human height

    NARCIS (Netherlands)

    Allen, Hana Lango; Estrada, Karol; Lettre, Guillaume; Berndt, Sonja I.; Weedon, Michael N.; Rivadeneira, Fernando; Willer, Cristen J.; Jackson, Anne U.; Vedantam, Sailaja; Raychaudhuri, Soumya; Ferreira, Teresa; Wood, Andrew R.; Weyant, Robert J.; Segre, Ayellet V.; Speliotes, Elizabeth K.; Wheeler, Eleanor; Soranzo, Nicole; Park, Ju-Hyun; Yang, Jian; Gudbjartsson, Daniel; Heard-Costa, Nancy L.; Randall, Joshua C.; Qi, Lu; Smith, Albert Vernon; Maegi, Reedik; Pastinen, Tomi; Liang, Liming; Heid, Iris M.; Luan, Jian'an; Thorleifsson, Gudmar; Winkler, Thomas W.; Goddard, Michael E.; Lo, Ken Sin; Palmer, Cameron; Workalemahu, Tsegaselassie; Aulchenko, Yurii S.; Johansson, Asa; Zillikens, M. Carola; Feitosa, Mary F.; Esko, Tonu; Johnson, Toby; Ketkar, Shamika; Kraft, Peter; Mangino, Massimo; Prokopenko, Inga; Absher, Devin; Albrecht, Eva; Ernst, Florian; Zhao, Jing Hua; Chen, Constance

    2010-01-01

    Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits(1), but these typically explain small fractions

  15. Hundreds of variants clustered in genomic loci and biological pathways affect human height

    DEFF Research Database (Denmark)

    Lango Allen, Hana; Estrada, Karol; Lettre, Guillaume

    2010-01-01

    Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits, but these typically explain small fractions...

  16. Human Estimation of Slope, Distance, and Height of Terrain in Simulated Lunar Conditions

    National Research Council Canada - National Science Library

    Oravetz, Christopher

    2009-01-01

    .... These unique lunar conditions are expected to affect human perception: the lack of an atmosphere, the non-Lambertian regolith reflectance properties, the lack of familiar objects, and the physiological effects of reduced gravity...

  17. Functional characterization of genetic enzyme variations in human lipoxygenases

    Directory of Open Access Journals (Sweden)

    Thomas Horn

    2013-01-01

    Full Text Available Mammalian lipoxygenases play a role in normal cell development and differentiation but they have also been implicated in the pathogenesis of cardiovascular, hyperproliferative and neurodegenerative diseases. As lipid peroxidizing enzymes they are involved in the regulation of cellular redox homeostasis since they produce lipid hydroperoxides, which serve as an efficient source for free radicals. There are various epidemiological correlation studies relating naturally occurring variations in the six human lipoxygenase genes (SNPs or rare mutations to the frequency for various diseases in these individuals, but for most of the described variations no functional data are available. Employing a combined bioinformatical and enzymological strategy, which included structural modeling and experimental site-directed mutagenesis, we systematically explored the structural and functional consequences of non-synonymous genetic variations in four different human lipoxygenase genes (ALOX5, ALOX12, ALOX15, and ALOX15B that have been identified in the human 1000 genome project. Due to a lack of a functional expression system we resigned to analyze the functionality of genetic variations in the hALOX12B and hALOXE3 gene. We found that most of the frequent non-synonymous coding SNPs are located at the enzyme surface and hardly alter the enzyme functionality. In contrast, genetic variations which affect functional important amino acid residues or lead to truncated enzyme variations (nonsense mutations are usually rare with a global allele frequency<0.1%. This data suggest that there appears to be an evolutionary pressure on the coding regions of the lipoxygenase genes preventing the accumulation of loss-of-function variations in the human population.

  18. Spring-like leg behaviour, musculoskeletal mechanics and control in maximum and submaximum height human hopping

    NARCIS (Netherlands)

    Bobbert, M.F.

    2011-01-01

    The purpose of this study was to understand how humans regulate their 'leg stiffness' in hopping, and to determine whether this regulation is intended to minimize energy expenditure. 'Leg stiffness' is the slope of the relationship between ground reaction force and displacement of the centre of mass

  19. Single camera multi-view anthropometric measurement of human height and mid-upper arm circumference using linear regression.

    Science.gov (United States)

    Liu, Yingying; Sowmya, Arcot; Khamis, Heba

    2018-01-01

    Manually measured anthropometric quantities are used in many applications including human malnutrition assessment. Training is required to collect anthropometric measurements manually, which is not ideal in resource-constrained environments. Photogrammetric methods have been gaining attention in recent years, due to the availability and affordability of digital cameras. The primary goal is to demonstrate that height and mid-upper arm circumference (MUAC)-indicators of malnutrition-can be accurately estimated by applying linear regression to distance measurements from photographs of participants taken from five views, and determine the optimal view combinations. A secondary goal is to observe the effect on estimate error of two approaches which reduce complexity of the setup, computational requirements and the expertise required of the observer. Thirty-one participants (11 female, 20 male; 18-37 years) were photographed from five views. Distances were computed using both camera calibration and reference object techniques from manually annotated photos. To estimate height, linear regression was applied to the distances between the top of the participants head and the floor, as well as the height of a bounding box enclosing the participant's silhouette which eliminates the need to identify the floor. To estimate MUAC, linear regression was applied to the mid-upper arm width. Estimates were computed for all view combinations and performance was compared to other photogrammetric methods from the literature-linear distance method for height, and shape models for MUAC. The mean absolute difference (MAD) between the linear regression estimates and manual measurements were smaller compared to other methods. For the optimal view combinations (smallest MAD), the technical error of measurement and coefficient of reliability also indicate the linear regression methods are more reliable. The optimal view combination was the front and side views. When estimating height by linear

  20. Anatomical variation of human thoracic rib in dry bone.

    Directory of Open Access Journals (Sweden)

    Dr. Nalini Konkani

    2017-12-01

    Full Text Available Introduction: The Ribs are essential structure of osseous thorax and provide information that aids in the interpretation of radiologic images. The purpose of this study to investigate variations in thoracic rib and its morphological & clinical importance. So, In present study attempted to find out additional intercostal spaces due to bifurcation of ribs, less intercostal space due to fusion of ribs, variation of the normal ribs like, gap in the rib, fusion of one rib to another at a shaft of rib. Congenital abnormalities of the ribs are usually asymptomatic, often discovered incidentally on chest X-ray. Effects of this neuroskeletal anomaly can include respiratory difficulties and neurological limitations.Material & Method: The study was carried out in Bone Store of Department of Anatomy, B. J. Medical College, Ahmedabad, Gujarat. Study was carried out on 500 human dried ribs. And the variations in the ribs are studied. We got variation in the human ribs and studied. Result : Variations were seen like out of 500 ribs, Bifid rib having two ends 9(1.8%, rib having bifid space 2(0.4%, fusion rib at the level of shaft 1(0.2%, fusion of first rib and second rib 1(0.2%,first rib having two ends 1(0.2%. Conclusion: Bifid rib is an anatomical variant where the sternal end of the rib is cleaved into two. So we can rule out mesodermal abnormalities, parenchymal lung disease, chest wall tumor or costal fracture.

  1. Concordant preferences for actual height and facial cues to height

    OpenAIRE

    Re, Daniel Edward; Perrett, David I.

    2012-01-01

    Physical height has a well-documented effect on human mate preferences. In general, both sexes prefer opposite-sex romantic relationships in which the man is taller than the woman, while individual preferences for height are affected by a person’s own height. Research in human mate choice has demonstrated that attraction to facial characteristics, such as facial adiposity, may reflect references for body characteristics. Here, we tested preferences for facial cues to height. In general, incre...

  2. DNA methylation-based variation between human populations.

    Science.gov (United States)

    Kader, Farzeen; Ghai, Meenu

    2017-02-01

    Several studies have proved that DNA methylation affects regulation of gene expression and development. Epigenome-wide studies have reported variation in methylation patterns between populations, including Caucasians, non-Caucasians (Blacks), Hispanics, Arabs, and numerous populations of the African continent. Not only has DNA methylation differences shown to impact externally visible characteristics, but is also a potential biomarker for underlying racial health disparities between human populations. Ethnicity-related methylation differences set their mark during early embryonic development. Genetic variations, such as single-nucleotide polymorphisms and environmental factors, such as age, dietary folate, socioeconomic status, and smoking, impacts DNA methylation levels, which reciprocally impacts expression of phenotypes. Studies show that it is necessary to address these external influences when attempting to differentiate between populations since the relative impacts of these factors on the human methylome remain uncertain. The present review summarises several reported attempts to establish the contribution of differential DNA methylation to natural human variation, and shows that DNA methylation could represent new opportunities for risk stratification and prevention of several diseases amongst populations world-wide. Variation of methylation patterns between human populations is an exciting prospect which inspires further valuable research to apply the concept in routine medical and forensic casework. However, trans-generational inheritance needs to be quantified to decipher the proportion of variation contributed by DNA methylation. The future holds thorough evaluation of the epigenome to understand quantification, heritability, and the effect of DNA methylation on phenotypes. In addition, methylation profiling of the same ethnic groups across geographical locations will shed light on conserved methylation differences in populations.

  3. Estrutura do pasto de capim-braquiária com variação de alturas Structure of signal grass pasture with height variation

    Directory of Open Access Journals (Sweden)

    Manoel Eduardo Rozalino Santos

    2010-10-01

    experimental design with two repetitions. Variation in the initial height of the signal grass pasture plant showed a linear and a negative response. The masses of green leaf blade mass, live stem, dead material, live forage and total forage linearly increased with heights of the plants on the pasture. However, it was observed a linear reduction in green leaf blade/live stem ratio and the height of the plants on the pasture (from 1.16 to 0.58. Plant height on the pasture had a stronger effect on the increase of live stem and the dead material masses than it had on the green leaf blade mass. Volumetric density of green leaf blade decreased (from 97.09 to 39.07 kg/cm ha DM with plant height on the pasture. The same response was found for volumetric densities of live forage (from 181.62 to 107.85 kg/cm.ha dry matter and total forage (from 283.39 to 195.72 kg/cm.ha dry matter. On the other hand, the plant heights on pasture did not affect volumetric density of live stem and dead material, which showed mean values 80.95 and 95.61 kg/cm.ha DM, respectively. The heights of the plants on pasture had a quadratic effect on light interception by the canopy. Grazing areas with heights of 10, 20, 30 and 40 cm showed light interception values of 56.15, 85.16, 93.39 and 96.57%, respectively. It occurs and temporal variabilities on the B. decumbens pasture structure managed under continuous stocking.

  4. Understanding human genetic variation in the era of high-throughput sequencing

    OpenAIRE

    Knight, Julian C.

    2010-01-01

    The EMBO/EMBL symposium ‘Human Variation: Cause and Consequence' highlighted advances in understanding the molecular basis of human genetic variation and its myriad implications for biology, human origins and disease.

  5. Variation of the height of the grain bed of an indirect solar bin dryer; Variacion de la altura del lecho del grano en un secador solar indirecto

    Energy Technology Data Exchange (ETDEWEB)

    Sima, Efrain; Alvarez, Gabriela; Garcia, Saul [CENIDET, Cuernavaca, Morelos (Mexico)

    2000-07-01

    This paper presents the effect of the variation of the size of the grain bed of an indirect solar bin dryer. This solar dryer was designed and built at the Instituto Tecnologico de Zacatepec and Sima performed the thermal evaluation. The solar bin dryer consists of a bin dryer of 0.92 m diameter and 1 m height (the maximum height of the grain bed is 0.6 m). a 2 m{sup 2} solar collector, a blower and an electronic card to control the inlet air flow of the bin. A load of 36 kg, 45 kg, 52 kg and 64 kg of corn were dried. The heights of the grain were 7.5 cm, 10 cm, 12.5 cm and 17 cm respectively. Solar radiation, inlet air velocity of the solar collector, pressure drop, grain temperature and humidity, ambient temperature and humidity of the drying air were recorded. The initial grain humidity was 27.2% and the final was 11.8%. [Spanish] En este trabajo se presenta el efecto de la variacion del lecho del grano en el proceso de secado de maiz, en un prototipo de secador solar de tipo indirecto. El secador fue disenado y construido en el Tecnologico de Zacatepec y evaluado por Sima, consta de una camara de secado de 0.92 m de diametro y una altura de 1 m. (la altura del lecho maximo de grano posible es de 0.6 m.), un colector solar con un area de 2 m{sup 2}, un extractor de aire y un control electronico para el flujo de aire. El secado de maiz se llevo a cabo con cargas de maiz de 36, 45, 52 y 64 kg. Las alturas en el lecho del grano fueron 7.5, 10, 12.5 y 17 cm. Para cada altura de lecho de grano se realizo una prueba. Durante cada prueba se realizaron mediciones de: radiacion solar, velocidad del aire a la entrada, caida de presion, temperatura del grano, humedad del grano, temperatura del aire ambiente, temperatura y humedad del aire de secado a la entrada y salida del secador. La humedad inicial del grano fue alrededor de 27.2% y la final de 11.8%.

  6. Global variance in female population height: the influence of education, income, human development, life expectancy, mortality and gender inequality in 96 nations.

    Science.gov (United States)

    Mark, Quentin J

    2014-01-01

    Human height is a heritable trait that is known to be influenced by environmental factors and general standard of living. Individual and population stature is correlated with health, education and economic achievement. Strong sexual selection pressures for stature have been observed in multiple diverse populations, however; there is significant global variance in gender equality and prohibitions on female mate selection. This paper explores the contribution of general standard of living and gender inequality to the variance in global female population heights. Female population heights of 96 nations were culled from previously published sources and public access databases. Factor analysis with United Nations international data on education rates, life expectancy, incomes, maternal and childhood mortality rates, ratios of gender participation in education and politics, the Human Development Index (HDI) and the Gender Inequality Index (GII) was run. Results indicate that population heights vary more closely with gender inequality than with population health, income or education.

  7. Variation in human recombination rates and its genetic determinants.

    Directory of Open Access Journals (Sweden)

    Adi Fledel-Alon

    Full Text Available Despite the fundamental role of crossing-over in the pairing and segregation of chromosomes during human meiosis, the rates and placements of events vary markedly among individuals. Characterizing this variation and identifying its determinants are essential steps in our understanding of the human recombination process and its evolution.Using three large sets of European-American pedigrees, we examined variation in five recombination phenotypes that capture distinct aspects of crossing-over patterns. We found that the mean recombination rate in males and females and the historical hotspot usage are significantly heritable and are uncorrelated with one another. We then conducted a genome-wide association study in order to identify loci that influence them. We replicated associations of RNF212 with the mean rate in males and in females as well as the association of Inversion 17q21.31 with the female mean rate. We also replicated the association of PRDM9 with historical hotspot usage, finding that it explains most of the genetic variance in this phenotype. In addition, we identified a set of new candidate regions for further validation.These findings suggest that variation at broad and fine scales is largely separable and that, beyond three known loci, there is no evidence for common variation with large effects on recombination phenotypes.

  8. Human footprint variation while performing load bearing tasks.

    Directory of Open Access Journals (Sweden)

    Cara M Wall-Scheffler

    Full Text Available Human footprint fossils have provided essential evidence about the evolution of human bipedalism as well as the social dynamics of the footprint makers, including estimates of speed, sex and group composition. Generally such estimates are made by comparing footprint evidence with modern controls; however, previous studies have not accounted for the variation in footprint dimensions coming from load bearing activities. It is likely that a portion of the hominins who created these fossil footprints were carrying a significant load, such as offspring or foraging loads, which caused variation in the footprint which could extend to variation in any estimations concerning the footprint's maker. To identify significant variation in footprints due to load-bearing tasks, we had participants (N = 30, 15 males and 15 females walk at a series of speeds carrying a 20kg pack on their back, side and front. Paint was applied to the bare feet of each participant to create footprints that were compared in terms of foot length, foot width and foot area. Female foot length and width increased during multiple loaded conditions. An appreciation of footprint variability associated with carrying loads adds an additional layer to our understanding of the behavior and morphology of extinct hominin populations.

  9. The study of human Y chromosome variation through ancient DNA.

    Science.gov (United States)

    Kivisild, Toomas

    2017-05-01

    High throughput sequencing methods have completely transformed the study of human Y chromosome variation by offering a genome-scale view on genetic variation retrieved from ancient human remains in context of a growing number of high coverage whole Y chromosome sequence data from living populations from across the world. The ancient Y chromosome sequences are providing us the first exciting glimpses into the past variation of male-specific compartment of the genome and the opportunity to evaluate models based on previously made inferences from patterns of genetic variation in living populations. Analyses of the ancient Y chromosome sequences are challenging not only because of issues generally related to ancient DNA work, such as DNA damage-induced mutations and low content of endogenous DNA in most human remains, but also because of specific properties of the Y chromosome, such as its highly repetitive nature and high homology with the X chromosome. Shotgun sequencing of uniquely mapping regions of the Y chromosomes to sufficiently high coverage is still challenging and costly in poorly preserved samples. To increase the coverage of specific target SNPs capture-based methods have been developed and used in recent years to generate Y chromosome sequence data from hundreds of prehistoric skeletal remains. Besides the prospects of testing directly as how much genetic change in a given time period has accompanied changes in material culture the sequencing of ancient Y chromosomes allows us also to better understand the rate at which mutations accumulate and get fixed over time. This review considers genome-scale evidence on ancient Y chromosome diversity that has recently started to accumulate in geographic areas favourable to DNA preservation. More specifically the review focuses on examples of regional continuity and change of the Y chromosome haplogroups in North Eurasia and in the New World.

  10. Wuthering Heights

    NARCIS (Netherlands)

    Bronte, Emily

    2005-01-01

    Wuthering Heights tells the story of a romance between two youngsters: Catherine Earnshaw and an orphan boy, Heathcliff. After she rejects him for a boy from a better background he develops a lust for revenge that takes over his life. In attempting to win her back and destroy those he blames for his

  11. Genome-wide associations of gene expression variation in humans.

    Directory of Open Access Journals (Sweden)

    Barbara E Stranger

    2005-12-01

    Full Text Available The exploration of quantitative variation in human populations has become one of the major priorities for medical genetics. The successful identification of variants that contribute to complex traits is highly dependent on reliable assays and genetic maps. We have performed a genome-wide quantitative trait analysis of 630 genes in 60 unrelated Utah residents with ancestry from Northern and Western Europe using the publicly available phase I data of the International HapMap project. The genes are located in regions of the human genome with elevated functional annotation and disease interest including the ENCODE regions spanning 1% of the genome, Chromosome 21 and Chromosome 20q12-13.2. We apply three different methods of multiple test correction, including Bonferroni, false discovery rate, and permutations. For the 374 expressed genes, we find many regions with statistically significant association of single nucleotide polymorphisms (SNPs with expression variation in lymphoblastoid cell lines after correcting for multiple tests. Based on our analyses, the signal proximal (cis- to the genes of interest is more abundant and more stable than distal and trans across statistical methodologies. Our results suggest that regulatory polymorphism is widespread in the human genome and show that the 5-kb (phase I HapMap has sufficient density to enable linkage disequilibrium mapping in humans. Such studies will significantly enhance our ability to annotate the non-coding part of the genome and interpret functional variation. In addition, we demonstrate that the HapMap cell lines themselves may serve as a useful resource for quantitative measurements at the cellular level.

  12. Genome-Wide Associations of Gene Expression Variation in Humans.

    Directory of Open Access Journals (Sweden)

    2005-12-01

    Full Text Available The exploration of quantitative variation in human populations has become one of the major priorities for medical genetics. The successful identification of variants that contribute to complex traits is highly dependent on reliable assays and genetic maps. We have performed a genome-wide quantitative trait analysis of 630 genes in 60 unrelated Utah residents with ancestry from Northern and Western Europe using the publicly available phase I data of the International HapMap project. The genes are located in regions of the human genome with elevated functional annotation and disease interest including the ENCODE regions spanning 1% of the genome, Chromosome 21 and Chromosome 20q12-13.2. We apply three different methods of multiple test correction, including Bonferroni, false discovery rate, and permutations. For the 374 expressed genes, we find many regions with statistically significant association of single nucleotide polymorphisms (SNPs with expression variation in lymphoblastoid cell lines after correcting for multiple tests. Based on our analyses, the signal proximal (cis- to the genes of interest is more abundant and more stable than distal and trans across statistical methodologies. Our results suggest that regulatory polymorphism is widespread in the human genome and show that the 5-kb (phase I HapMap has sufficient density to enable linkage disequilibrium mapping in humans. Such studies will significantly enhance our ability to annotate the non-coding part of the genome and interpret functional variation. In addition, we demonstrate that the HapMap cell lines themselves may serve as a useful resource for quantitative measurements at the cellular level.

  13. Evidence of seasonal variation in longitudinal growth of height in a sample of boys from Stuttgart Carlsschule, 1771-1793, using combined principal component analysis and maximum likelihood principle.

    Science.gov (United States)

    Lehmann, A; Scheffler, Ch; Hermanussen, M

    2010-02-01

    Recent progress in modelling individual growth has been achieved by combining the principal component analysis and the maximum likelihood principle. This combination models growth even in incomplete sets of data and in data obtained at irregular intervals. We re-analysed late 18th century longitudinal growth of German boys from the boarding school Carlsschule in Stuttgart. The boys, aged 6-23 years, were measured at irregular 3-12 monthly intervals during the period 1771-1793. At the age of 18 years, mean height was 1652 mm, but height variation was large. The shortest boy reached 1474 mm, the tallest 1826 mm. Measured height closely paralleled modelled height, with mean difference of 4 mm, SD 7 mm. Seasonal height variation was found. Low growth rates occurred in spring and high growth rates in summer and autumn. The present study demonstrates that combining the principal component analysis and the maximum likelihood principle enables growth modelling in historic height data also. Copyright (c) 2009 Elsevier GmbH. All rights reserved.

  14. Expression of OsSPY and 14-3-3 genes involved in plant height variations of ion-beam-induced KDML 105 rice mutants

    Energy Technology Data Exchange (ETDEWEB)

    Phanchaisri, Boonrak [Science and Technology Research Institute, Chiang Mai University, Chiang Mai 50200 (Thailand); Molecular Biology Laboratory, Department of Biology, Faculty of Science, Chiang Mai University, Chiang Mai 50200 (Thailand); Samsang, Nuananong [Molecular Biology Laboratory, Department of Biology, Faculty of Science, Chiang Mai University, Chiang Mai 50200 (Thailand); Yu, Liang Deng; Singkarat, Somsorn [Plasma and Beam Physics Research Facility, Department of Physics and Materials Science, Faculty of Science, Chiang Mai University, Chiang Mai 50200 (Thailand); Thailand Center of Excellence in Physics, Commission on Higher Education, 328 Si Ayutthaya Road, Bangkok 10400 (Thailand); Anuntalabhochai, Somboon, E-mail: soanu.1@gmail.com [Molecular Biology Laboratory, Department of Biology, Faculty of Science, Chiang Mai University, Chiang Mai 50200 (Thailand)

    2012-06-01

    The culm length of two semidwarf rice mutants (PKOS1, HyKOS1) obtained from low-energy N-ion beam bombardments of dehusked Thai jasmine rice (Oryza sativa L. cv. KDML 105) seeds showed 25.7% and 21.5% height reductions and one spindly rice mutant (TKOS4) showed 21.4% increase in comparison with that of the KDML 105 control. A cDNA-RAPD analysis identified differential gene expression in internode tissues of the rice mutants. Two genes identified from the cDNA-RAPD were OsSPY and 14-3-3, possibly associated with stem height variations of the semidwarf and spindly mutants, respectively. The OsSPY gene encoded the SPY protein which is considered to be a negative regulator of gibberellin (GA). On the other hand, the 14-3-3 encoded a signaling protein which can bind and prevent the RSG (repression of shoot growth) protein function as a transcriptional repressor of the kaurene oxidase (KO) gene in the GA biosynthetic pathway. Expression analysis of OsSPY, 14-3-3, RSG, KO, and SLR1 was confirmed in rice internode tissues during the reproductive stage of the plants by semi-quantitative RT-PCR technique. The expression analysis showed a clear increase of the levels of OsSPY transcripts in PKOS1 and HyKOS1 tissue samples compared to that of the KDML 105 and TKOS4 samples at the age of 50-60 days which were at the ages of internode elongation. The 14-3-3 expression had the highest increase in the TKOS4 samples compared to those in KDML 105, PKOS1 and HyKOS1 samples. The expression analysis of RSG and KO showed an increase in TKOS4 samples compared to that of the KDML 105 and that of the two semidwarf mutants. These results indicate that changes of OsSPY and 14-3-3 expression could affect internode elongation and cause the phenotypic changes of semidwarf and spindly rice mutants, respectively.

  15. Expression of OsSPY and 14-3-3 genes involved in plant height variations of ion-beam-induced KDML 105 rice mutants

    International Nuclear Information System (INIS)

    Phanchaisri, Boonrak; Samsang, Nuananong; Yu, Liang Deng; Singkarat, Somsorn; Anuntalabhochai, Somboon

    2012-01-01

    The culm length of two semidwarf rice mutants (PKOS1, HyKOS1) obtained from low-energy N-ion beam bombardments of dehusked Thai jasmine rice (Oryza sativa L. cv. KDML 105) seeds showed 25.7% and 21.5% height reductions and one spindly rice mutant (TKOS4) showed 21.4% increase in comparison with that of the KDML 105 control. A cDNA-RAPD analysis identified differential gene expression in internode tissues of the rice mutants. Two genes identified from the cDNA-RAPD were OsSPY and 14-3-3, possibly associated with stem height variations of the semidwarf and spindly mutants, respectively. The OsSPY gene encoded the SPY protein which is considered to be a negative regulator of gibberellin (GA). On the other hand, the 14-3-3 encoded a signaling protein which can bind and prevent the RSG (repression of shoot growth) protein function as a transcriptional repressor of the kaurene oxidase (KO) gene in the GA biosynthetic pathway. Expression analysis of OsSPY, 14-3-3, RSG, KO, and SLR1 was confirmed in rice internode tissues during the reproductive stage of the plants by semi-quantitative RT-PCR technique. The expression analysis showed a clear increase of the levels of OsSPY transcripts in PKOS1 and HyKOS1 tissue samples compared to that of the KDML 105 and TKOS4 samples at the age of 50–60 days which were at the ages of internode elongation. The 14-3-3 expression had the highest increase in the TKOS4 samples compared to those in KDML 105, PKOS1 and HyKOS1 samples. The expression analysis of RSG and KO showed an increase in TKOS4 samples compared to that of the KDML 105 and that of the two semidwarf mutants. These results indicate that changes of OsSPY and 14-3-3 expression could affect internode elongation and cause the phenotypic changes of semidwarf and spindly rice mutants, respectively.

  16. Ethnic variation in the correlation between waist to height ratio and total daily insulin requirement in children with type 1 diabetes: a cross-sectional study.

    Science.gov (United States)

    Uday, Suma; Gorman, Shaun; Feltbower, Richard G; Mathai, Mathew

    2017-03-01

    Total daily insulin required to achieve glycaemic control in type 1 diabetes (T1D) depends on numerous factors. Correlation of insulin requirement to body mass index and waist circumference has been variably reported in the literature and that of waist-to-height ratio has not been studied. To study the correlation between daily insulin requirement [total daily dose (TDD)] and waist-to-height ratio (WHtR) in a multiethnic population. A cross-sectional study of children (5-18 years) with T1D attending a diabetes clinic in a multiethnic population in Bradford, UK was conducted. Physical measurements were undertaken in the clinic setting and data collected from case notes and patients/carers. Sixty nine patients with mean age 12.7(±3.1) yr, duration of diabetes 5.4(±3.5) yr and hemoglobin A1c (HbA1c) 80(±18)mmol/mol(9.5 ± 1.6%) were recruited. Nearly 54% (n = 37) were white and 46% were non-white (29 Asian Pakistani; 1 Indian; 2 mixed White Afro-Caribbean). The two groups had similar demographics and disease profiles. Non-whites compared with whites had a higher prevalence of obesity (15 vs 5%, p 1), family history of type 2 diabetes (T2D) (49% vs. 33%), microalbuminuria (22% vs. 11%, p 1). WHtR and TDD were poorly correlated in the whole group. There was however a significant positive correlation in Caucasians (r = 0.583, N = 37, p 1) and a negative correlation in Asian Pakistanis (r = -0.472, N = 32, p 1); with a significant negative correlation seen in subjects with relatives with T2D (r = -0.86, N = 6, p = 0.02). The variation in correlations highlights that the two ethnic groups behave differently and should therefore be studied separately with regards to factors influencing insulin requirements with careful consideration to the presence of parental IR. Further prospective studies are required to explore the reasons for these differences. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  17. Integrating common and rare genetic variation in diverse human populations.

    Science.gov (United States)

    Altshuler, David M; Gibbs, Richard A; Peltonen, Leena; Altshuler, David M; Gibbs, Richard A; Peltonen, Leena; Dermitzakis, Emmanouil; Schaffner, Stephen F; Yu, Fuli; Peltonen, Leena; Dermitzakis, Emmanouil; Bonnen, Penelope E; Altshuler, David M; Gibbs, Richard A; de Bakker, Paul I W; Deloukas, Panos; Gabriel, Stacey B; Gwilliam, Rhian; Hunt, Sarah; Inouye, Michael; Jia, Xiaoming; Palotie, Aarno; Parkin, Melissa; Whittaker, Pamela; Yu, Fuli; Chang, Kyle; Hawes, Alicia; Lewis, Lora R; Ren, Yanru; Wheeler, David; Gibbs, Richard A; Muzny, Donna Marie; Barnes, Chris; Darvishi, Katayoon; Hurles, Matthew; Korn, Joshua M; Kristiansson, Kati; Lee, Charles; McCarrol, Steven A; Nemesh, James; Dermitzakis, Emmanouil; Keinan, Alon; Montgomery, Stephen B; Pollack, Samuela; Price, Alkes L; Soranzo, Nicole; Bonnen, Penelope E; Gibbs, Richard A; Gonzaga-Jauregui, Claudia; Keinan, Alon; Price, Alkes L; Yu, Fuli; Anttila, Verneri; Brodeur, Wendy; Daly, Mark J; Leslie, Stephen; McVean, Gil; Moutsianas, Loukas; Nguyen, Huy; Schaffner, Stephen F; Zhang, Qingrun; Ghori, Mohammed J R; McGinnis, Ralph; McLaren, William; Pollack, Samuela; Price, Alkes L; Schaffner, Stephen F; Takeuchi, Fumihiko; Grossman, Sharon R; Shlyakhter, Ilya; Hostetter, Elizabeth B; Sabeti, Pardis C; Adebamowo, Clement A; Foster, Morris W; Gordon, Deborah R; Licinio, Julio; Manca, Maria Cristina; Marshall, Patricia A; Matsuda, Ichiro; Ngare, Duncan; Wang, Vivian Ota; Reddy, Deepa; Rotimi, Charles N; Royal, Charmaine D; Sharp, Richard R; Zeng, Changqing; Brooks, Lisa D; McEwen, Jean E

    2010-09-02

    Despite great progress in identifying genetic variants that influence human disease, most inherited risk remains unexplained. A more complete understanding requires genome-wide studies that fully examine less common alleles in populations with a wide range of ancestry. To inform the design and interpretation of such studies, we genotyped 1.6 million common single nucleotide polymorphisms (SNPs) in 1,184 reference individuals from 11 global populations, and sequenced ten 100-kilobase regions in 692 of these individuals. This integrated data set of common and rare alleles, called 'HapMap 3', includes both SNPs and copy number polymorphisms (CNPs). We characterized population-specific differences among low-frequency variants, measured the improvement in imputation accuracy afforded by the larger reference panel, especially in imputing SNPs with a minor allele frequency of variation and its role in human disease, and serves as a step towards a high-resolution map of the landscape of human genetic variation.

  18. Genome Architecture and Its Roles in Human Copy Number Variation

    Directory of Open Access Journals (Sweden)

    Lu Chen

    2014-12-01

    Full Text Available Besides single-nucleotide variants in the human genome, large-scale genomic variants, such as copy number variations (CNVs, are being increasingly discovered as a genetic source of human diversity and the pathogenic factors of diseases. Recent experimental findings have shed light on the links between different genome architectures and CNV mutagenesis. In this review, we summarize various genomic features and discuss their contributions to CNV formation. Genomic repeats, including both low-copy and high-copy repeats, play important roles in CNV instability, which was initially known as DNA recombination events. Furthermore, it has been found that human genomic repeats can also induce DNA replication errors and consequently result in CNV mutations. Some recent studies showed that DNA replication timing, which reflects the high-order information of genomic organization, is involved in human CNV mutations. Our review highlights that genome architecture, from DNA sequence to high-order genomic organization, is an important molecular factor in CNV mutagenesis and human genomic instability.

  19. Genetic variation of whitebark pine (Pinus albicaulis) provenances and families from Oregon and Washington in juvenile height growth and needle color

    Science.gov (United States)

    Jim Hamlin; Angelia Kegley; Richard Sniezko

    2011-01-01

    A three year common garden study was conducted on whitebark pine (Pinus albicaulis) which included 215 families from the eight provenances or seed zones in Oregon and Washington. Total height and needle color were assessed. Height differed significantly among provenances and families, and was primarily associated with source elevation, longitude, and precipitation. A...

  20. Human feeding biomechanics: performance, variation, and functional constraints

    Directory of Open Access Journals (Sweden)

    Justin A. Ledogar

    2016-07-01

    Full Text Available The evolution of the modern human (Homo sapiens cranium is characterized by a reduction in the size of the feeding system, including reductions in the size of the facial skeleton, postcanine teeth, and the muscles involved in biting and chewing. The conventional view hypothesizes that gracilization of the human feeding system is related to a shift toward eating foods that were less mechanically challenging to consume and/or foods that were processed using tools before being ingested. This hypothesis predicts that human feeding systems should not be well-configured to produce forceful bites and that the cranium should be structurally weak. An alternate hypothesis, based on the observation that humans have mechanically efficient jaw adductors, states that the modern human face is adapted to generate and withstand high biting forces. We used finite element analysis (FEA to test two opposing mechanical hypotheses: that compared to our closest living relative, chimpanzees (Pan troglodytes, the modern human craniofacial skeleton is (1 less well configured, or (2 better configured to generate and withstand high magnitude bite forces. We considered intraspecific variation in our examination of human feeding biomechanics by examining a sample of geographically diverse crania that differed notably in shape. We found that our biomechanical models of human crania had broadly similar mechanical behavior despite their shape variation and were, on average, less structurally stiff than the crania of chimpanzees during unilateral biting when loaded with physiologically-scaled muscle loads. Our results also show that modern humans are efficient producers of bite force, consistent with previous analyses. However, highly tensile reaction forces were generated at the working (biting side jaw joint during unilateral molar bites in which the chewing muscles were recruited with bilateral symmetry. In life, such a configuration would have increased the risk of joint

  1. Human feeding biomechanics: performance, variation, and functional constraints

    Science.gov (United States)

    Dechow, Paul C.; Wang, Qian; Gharpure, Poorva H.; Baab, Karen L.; Smith, Amanda L.; Weber, Gerhard W.; Grosse, Ian R.; Ross, Callum F.; Richmond, Brian G.; Wright, Barth W.; Byron, Craig; Wroe, Stephen; Strait, David S.

    2016-01-01

    The evolution of the modern human (Homo sapiens) cranium is characterized by a reduction in the size of the feeding system, including reductions in the size of the facial skeleton, postcanine teeth, and the muscles involved in biting and chewing. The conventional view hypothesizes that gracilization of the human feeding system is related to a shift toward eating foods that were less mechanically challenging to consume and/or foods that were processed using tools before being ingested. This hypothesis predicts that human feeding systems should not be well-configured to produce forceful bites and that the cranium should be structurally weak. An alternate hypothesis, based on the observation that humans have mechanically efficient jaw adductors, states that the modern human face is adapted to generate and withstand high biting forces. We used finite element analysis (FEA) to test two opposing mechanical hypotheses: that compared to our closest living relative, chimpanzees (Pan troglodytes), the modern human craniofacial skeleton is (1) less well configured, or (2) better configured to generate and withstand high magnitude bite forces. We considered intraspecific variation in our examination of human feeding biomechanics by examining a sample of geographically diverse crania that differed notably in shape. We found that our biomechanical models of human crania had broadly similar mechanical behavior despite their shape variation and were, on average, less structurally stiff than the crania of chimpanzees during unilateral biting when loaded with physiologically-scaled muscle loads. Our results also show that modern humans are efficient producers of bite force, consistent with previous analyses. However, highly tensile reaction forces were generated at the working (biting) side jaw joint during unilateral molar bites in which the chewing muscles were recruited with bilateral symmetry. In life, such a configuration would have increased the risk of joint dislocation and

  2. Influence of The -202 A/C insulin-like growth factor-binding protein-3 promoter polymorphism on individual variation in height in Korean girls

    Directory of Open Access Journals (Sweden)

    Min Ju Yi

    2017-03-01

    Full Text Available PurposeThe most common single nucleotide polymorphism in the IGFBP3 promoter region occurs at position -202. This polymorphic variation occurs frequently and may influence growth hormone responsiveness and somatic growth. However, the effects of IGFBP3 promoter polymorphism on growth in children are unknown.MethodsRestriction fragment length polymorphism-based genotyping of the -202 single nucleotide polymorphism was performed in 146 Korean girls aged between 15 and 16 years, who were selected randomly from the Seoul School Health Promotion Center. The participants were divided into 3 groups (tall, medium, and short according to the height percentile established from normal reference values for Korean children. The serum levels of insulin-like growth factor I (IGF-I and IGF-binding protein-3 (IGFBP-3 were then compared according to genotype.ResultsThe genotype distribution in the participants was 79 AA (54.1%, 60 AC (41.1%, and 7 CC (4.8%. The C allele frequency at the -202 IGFBP3 position was 25.4% in this group. The mean serum IGFBP-3 concentration in girls with the AA genotype was higher than that in girls with the AC genotype in the medium (P=0.047 and short (P=0.035 groups, respectively. There was no difference in the IGF-I to IGFBP-3 molar ratio between the AA and AC genotype groups (P=0.161.ConclusionIn conclusion, the -202 polymorphism in the IGFBP3 promoter region is assumed to affect the serum concentration of IGFBP-3 in children as well as in adults. However, it is unclear whether this affects physical development according to the concentration of IGFBP-3.

  3. Is variation in human radiosensitivity real or artifactual?

    International Nuclear Information System (INIS)

    Nakamura, Nori; Kushiro, Jun-ichi; Sposto, R.; Akiyama, Mitoshi.

    1989-12-01

    Two methods of producing human T-lymphocyte colonies in vitro are described, as well as dose-survival experiments using these methods for the investigation of possible differential radiosensitivity among individuals. In one method, the cloning efficiency (CE) of nonirradiated lymphocytes was between 10 % and 40 % (method 1), whereas subsequent improvement in assay conditions (method 2) resulted in a CE greater than 30 %. In vitro X-irradiation of colonies produced using method 1 revealed that the dose required to kill 90 % of the cells (D 10 ) was 2.87±0.28 Gy (mean ±SD, n = 18) for repeated examinations of lymphocytes from one reference individual. Using method 2, the D 10 values were greater, viz., 3.66±0.21 Gy for 28 repeated tests of the same reference individual and 3.58±0.19 Gy for 31 different individuals. Analysis of variance to compare the data from repeated examinations of one person versus data from single examinations of different persons showed that variation in the D 10 value was not significantly greater in the latter group. These results support the hypothesis that individual variation in human radiosensitivity is quite small, if it exists at all, as far as can be determined by the loss of colony-forming ability of irradiated G 0 lymphocytes. (author)

  4. Patterns of cis regulatory variation in diverse human populations.

    Directory of Open Access Journals (Sweden)

    Barbara E Stranger

    Full Text Available The genetic basis of gene expression variation has long been studied with the aim to understand the landscape of regulatory variants, but also more recently to assist in the interpretation and elucidation of disease signals. To date, many studies have looked in specific tissues and population-based samples, but there has been limited assessment of the degree of inter-population variability in regulatory variation. We analyzed genome-wide gene expression in lymphoblastoid cell lines from a total of 726 individuals from 8 global populations from the HapMap3 project and correlated gene expression levels with HapMap3 SNPs located in cis to the genes. We describe the influence of ancestry on gene expression levels within and between these diverse human populations and uncover a non-negligible impact on global patterns of gene expression. We further dissect the specific functional pathways differentiated between populations. We also identify 5,691 expression quantitative trait loci (eQTLs after controlling for both non-genetic factors and population admixture and observe that half of the cis-eQTLs are replicated in one or more of the populations. We highlight patterns of eQTL-sharing between populations, which are partially determined by population genetic relatedness, and discover significant sharing of eQTL effects between Asians, European-admixed, and African subpopulations. Specifically, we observe that both the effect size and the direction of effect for eQTLs are highly conserved across populations. We observe an increasing proximity of eQTLs toward the transcription start site as sharing of eQTLs among populations increases, highlighting that variants close to TSS have stronger effects and therefore are more likely to be detected across a wider panel of populations. Together these results offer a unique picture and resource of the degree of differentiation among human populations in functional regulatory variation and provide an estimate for

  5. Standing adult human phantoms based on 10th, 50th and 90th mass and height percentiles of male and female Caucasian populations

    Energy Technology Data Exchange (ETDEWEB)

    Cassola, V F; Kramer, R; De Oliveira Lira, C A B; Khoury, H J [Department of Nuclear Energy, Federal University of Pernambuco, Avenida Professor Luiz Freire, 1000, CEP 50740-540, Recife, PE (Brazil); Milian, F M, E-mail: rkramer@uol.com.br [Department of Exact Science and Technology, State University of Santa Cruz, Campus Soane Nazare de Andrade, Km 16 Rodovia Ilheus-Itabuna, CEP 45662-000, Ilheus, BA (Brazil)

    2011-07-07

    Computational anthropomorphic human phantoms are useful tools developed for the calculation of absorbed or equivalent dose to radiosensitive organs and tissues of the human body. The problem is, however, that, strictly speaking, the results can be applied only to a person who has the same anatomy as the phantom, while for a person with different body mass and/or standing height the data could be wrong. In order to improve this situation for many areas in radiological protection, this study developed 18 anthropometric standing adult human phantoms, nine models per gender, as a function of the 10th, 50th and 90th mass and height percentiles of Caucasian populations. The anthropometric target parameters for body mass, standing height and other body measures were extracted from PeopleSize, a well-known software package used in the area of ergonomics. The phantoms were developed based on the assumption of a constant body-mass index for a given mass percentile and for different heights. For a given height, increase or decrease of body mass was considered to reflect mainly the change of subcutaneous adipose tissue mass, i.e. that organ masses were not changed. Organ mass scaling as a function of height was based on information extracted from autopsy data. The methods used here were compared with those used in other studies, anatomically as well as dosimetrically. For external exposure, the results show that equivalent dose decreases with increasing body mass for organs and tissues located below the subcutaneous adipose tissue layer, such as liver, colon, stomach, etc, while for organs located at the surface, such as breasts, testes and skin, the equivalent dose increases or remains constant with increasing body mass due to weak attenuation and more scatter radiation caused by the increasing adipose tissue mass. Changes of standing height have little influence on the equivalent dose to organs and tissues from external exposure. Specific absorbed fractions (SAFs) have also

  6. Variation in heterozygosity predicts variation in human substitution rates between populations, individuals and genomic regions.

    Directory of Open Access Journals (Sweden)

    William Amos

    Full Text Available The "heterozygote instability" (HI hypothesis suggests that gene conversion events focused on heterozygous sites during meiosis locally increase the mutation rate, but this hypothesis remains largely untested. As humans left Africa they lost variability, which, if HI operates, should have reduced the mutation rate in non-Africans. Relative substitution rates were quantified in diverse humans using aligned whole genome sequences from the 1,000 genomes project. Substitution rate is consistently greater in Africans than in non-Africans, but only in diploid regions of the genome, consistent with a role for heterozygosity. Analysing the same data partitioned into a series of non-overlapping 2 Mb windows reveals a strong, non-linear correlation between the amount of heterozygosity lost "out of Africa" and the difference in substitution rate between Africans and non-Africans. Putative recent mutations, derived variants that occur only once among the 80 human chromosomes sampled, occur preferentially at the centre of 2 Kb windows that have elevated heterozygosity compared both with the same region in a closely related population and with an immediately adjacent region in the same population. More than half of all substitutions appear attributable to variation in heterozygosity. This observation provides strong support for HI with implications for many branches of evolutionary biology.

  7. Frequency variations of discrete cranial traits in major human populations. III. Hyperostotic variations.

    Science.gov (United States)

    Hanihara, T; Ishida, H

    2001-09-01

    Seven discrete cranial traits usually categorised as hyperostotic characters, the medial palatine canal, hypoglossal canal bridging, precondylar tubercle, condylus tertius, jugular foramen bridging, auditory exostosis, and mylohyoid bridging were investigated in 81 major human population samples from around the world. Significant asymmetric occurrences of the bilateral traits were detected in the medial palatine canal and jugular foramen bridging in several samples. Significant intertrait associations were found between some pairs of the traits, but not consistently across the large geographical samples. The auditory exostosis showed a predominant occurrence in males. With the exception of the auditory exostosis and mylohyoid bridging in a few samples, significant sex differences were slight. The frequency distributions of the traits (except for the auditory exostosis) showed some interregional clinality and intraregional discontinuity, suggesting that genetic drift could have contributed to the observed pattern of variation.

  8. Religious influences on human capital variations in imperial Russia

    Directory of Open Access Journals (Sweden)

    Tomila Lankina

    2012-01-01

    Full Text Available Historical legacies, particularly imperial tutelage and religion, have featured prominently in recent scholarship on political regime variations in post-communist settings, challenging earlier temporally proximate explanations. The overlap between tutelage, geography, and religion has complicated the uncovering of the spatially uneven effects of the various legacies. The author addresses this challenge by conducting sub-national analysis of religious influences within one imperial domain, Russia. In particular, the paper traces how European settlement in imperial Russia has had a bearing on human development in the imperial periphery. The causal mechanism that the paper proposes to account for this influence is the Western communities’ impact on literacy, which is in turn linked in the analysis to the Western Christian, particularly Protestant, roots, of settler populations. The author makes this case by constructing an original dataset based on sub-national data from the hitherto underutilised first imperial census of 1897.

  9. Age variations in the properties of human tibial trabecular bone

    DEFF Research Database (Denmark)

    Ding, Ming; Dalstra, M; Danielsen, CC

    1997-01-01

    We tested in compression specimens of human proximal tibial trabecular bone from 31 normal donors aged from 16 to 83 years and determined the mechanical properties, density and mineral and collagen content. Young's modulus and ultimate stress were highest between 40 and 50 years, whereas ultimate...... strain and failure energy showed maxima at younger ages. These age-related variations (except for failure energy) were non-linear. Tissue density and mineral concentration were constant throughout life, whereas apparent density (the amount of bone) varied with ultimate stress. Collagen density (the...... amount of collagen) varied with failure energy. Collagen concentration was maximal at younger ages but varied little with age. Our results suggest that the decrease in mechanical properties of trabecular bone such as Young's modulus and ultimate stress is mainly a consequence of the loss of trabecular...

  10. Human Variome Project Quality Assessment Criteria for Variation Databases.

    Science.gov (United States)

    Vihinen, Mauno; Hancock, John M; Maglott, Donna R; Landrum, Melissa J; Schaafsma, Gerard C P; Taschner, Peter

    2016-06-01

    Numerous databases containing information about DNA, RNA, and protein variations are available. Gene-specific variant databases (locus-specific variation databases, LSDBs) are typically curated and maintained for single genes or groups of genes for a certain disease(s). These databases are widely considered as the most reliable information source for a particular gene/protein/disease, but it should also be made clear they may have widely varying contents, infrastructure, and quality. Quality is very important to evaluate because these databases may affect health decision-making, research, and clinical practice. The Human Variome Project (HVP) established a Working Group for Variant Database Quality Assessment. The basic principle was to develop a simple system that nevertheless provides a good overview of the quality of a database. The HVP quality evaluation criteria that resulted are divided into four main components: data quality, technical quality, accessibility, and timeliness. This report elaborates on the developed quality criteria and how implementation of the quality scheme can be achieved. Examples are provided for the current status of the quality items in two different databases, BTKbase, an LSDB, and ClinVar, a central archive of submissions about variants and their clinical significance. © 2016 WILEY PERIODICALS, INC.

  11. Human midsagittal brain shape variation: patterns, allometry and integration

    Science.gov (United States)

    Bruner, Emiliano; Martin-Loeches, Manuel; Colom, Roberto

    2010-01-01

    Midsagittal cerebral morphology provides a homologous geometrical reference for brain shape and cortical vs. subcortical spatial relationships. In this study, midsagittal brain shape variation is investigated in a sample of 102 humans, in order to describe and quantify the major patterns of correlation between morphological features, the effect of size and sex on general anatomy, and the degree of integration between different cortical and subcortical areas. The only evident pattern of covariation was associated with fronto-parietal cortical bulging. The allometric component was weak for the cortical profile, but more robust for the posterior subcortical areas. Apparent sex differences were evidenced in size but not in brain shape. Cortical and subcortical elements displayed scarcely integrated changes, suggesting a modular separation between these two areas. However, a certain correlation was found between posterior subcortical and parietal cortical variations. These results should be directly integrated with information ranging from functional craniology to wiring organization, and with hypotheses linking brain shape and the mechanical properties of neurons during morphogenesis. PMID:20345859

  12. Kinect Who’s Coming - Applying Kinect to Human Body Height Measurement to Improve Character Recognition Performance

    Directory of Open Access Journals (Sweden)

    Hau-Wei Lee

    2015-05-01

    Full Text Available A great deal of relevant research on character recognition has been carried out, but a certain amount of time is needed to compare faces from a large database. The Kinect is able to obtain three-dimensional coordinates for an object (x & y axes and depth, and in recent years research on its applications has expanded from use in gaming to that of image measurement. This study uses Kinect skeleton information to conduct body height measurements with the aim of improving character recognition performance. Time spent searching and comparing characters is reduced by creating height categories. The margin of error for height used in this investigation was ± 5 cm; therefore, face comparisons were only executed for people in the database within ±5 cm of the body height measured, reducing the search time needed. In addition, using height and facial features simultaneously to conduct character recognition can also reduce the frequency of mistaken recognition. The Kinect was placed on a rotary stage and the position of the head on the body frame was used to conduct body tracking. Body tracking can be used to reduce image distortion caused by the lens of the Kinect. EmguCV was used for image processing and character recognition. The methods proposed in this study can be used in public safety, student attendance registration, commercial VIP recognition and many others.

  13. Rural-urban variations in age at menarche, adult height, leg-length and abdominal adiposity in black South African women in transitioning South Africa.

    Science.gov (United States)

    Said-Mohamed, Rihlat; Prioreschi, Alessandra; Nyati, Lukhanyo H; van Heerden, Alastair; Munthali, Richard J; Kahn, Kathleen; Tollman, Stephen M; Gómez-Olivé, Francesc Xavier; Houle, Brian; Dunger, David B; Norris, Shane A

    2018-03-01

    The pre-pubertal socioeconomic environment may be an important determinant of age at menarche, adult height, body proportions and adiposity: traits closely linked to adolescent and adult health. This study explored differences in age at menarche, adult height, relative leg-length and waist circumference between rural and urban black South African young adult women, who are at different stages of the nutrition and epidemiologic transitions. We compared 18-23 year-old black South African women, 482 urban-dwelling from Soweto and 509 from the rural Mpumalanga province. Age at menarche, obstetric history and household socio-demographic and economic information were recorded using interview-administered questionnaires. Height, sitting-height, hip and waist circumference were measured using standardised techniques. Urban and rural black South African women differed in their age at menarche (at ages 12.7 and 14.5 years, respectively). In urban women, a one-year increase in age at menarche was associated with a 0.65 cm and 0.16% increase in height and relative leg-length ratio, respectively. In both settings, earlier age at menarche and shorter relative leg-length were independently associated with an increase in waist circumference. In black South African women, the earlier onset of puberty, and consequently an earlier growth cessation process, may lead to central fat mass accumulation in adulthood.

  14. Rural–urban variations in age at menarche, adult height, leg-length and abdominal adiposity in black South African women in transitioning South Africa

    Science.gov (United States)

    2018-01-01

    Abstract Background: The pre-pubertal socioeconomic environment may be an important determinant of age at menarche, adult height, body proportions and adiposity: traits closely linked to adolescent and adult health. Aims: This study explored differences in age at menarche, adult height, relative leg-length and waist circumference between rural and urban black South African young adult women, who are at different stages of the nutrition and epidemiologic transitions. Subjects and methods: We compared 18–23 year-old black South African women, 482 urban-dwelling from Soweto and 509 from the rural Mpumalanga province. Age at menarche, obstetric history and household socio-demographic and economic information were recorded using interview-administered questionnaires. Height, sitting-height, hip and waist circumference were measured using standardised techniques. Results: Urban and rural black South African women differed in their age at menarche (at ages 12.7 and 14.5 years, respectively). In urban women, a one-year increase in age at menarche was associated with a 0.65 cm and 0.16% increase in height and relative leg-length ratio, respectively. In both settings, earlier age at menarche and shorter relative leg-length were independently associated with an increase in waist circumference. Conclusions: In black South African women, the earlier onset of puberty, and consequently an earlier growth cessation process, may lead to central fat mass accumulation in adulthood. PMID:29557678

  15. Estimating mobility using sparse data: Application to human genetic variation.

    Science.gov (United States)

    Loog, Liisa; Mirazón Lahr, Marta; Kovacevic, Mirna; Manica, Andrea; Eriksson, Anders; Thomas, Mark G

    2017-11-14

    Mobility is one of the most important processes shaping spatiotemporal patterns of variation in genetic, morphological, and cultural traits. However, current approaches for inferring past migration episodes in the fields of archaeology and population genetics lack either temporal resolution or formal quantification of the underlying mobility, are poorly suited to spatially and temporally sparsely sampled data, and permit only limited systematic comparison between different time periods or geographic regions. Here we present an estimator of past mobility that addresses these issues by explicitly linking trait differentiation in space and time. We demonstrate the efficacy of this estimator using spatiotemporally explicit simulations and apply it to a large set of ancient genomic data from Western Eurasia. We identify a sequence of changes in human mobility from the Late Pleistocene to the Iron Age. We find that mobility among European Holocene farmers was significantly higher than among European hunter-gatherers both pre- and postdating the Last Glacial Maximum. We also infer that this Holocene rise in mobility occurred in at least three distinct stages: the first centering on the well-known population expansion at the beginning of the Neolithic, and the second and third centering on the beginning of the Bronze Age and the late Iron Age, respectively. These findings suggest a strong link between technological change and human mobility in Holocene Western Eurasia and demonstrate the utility of this framework for exploring changes in mobility through space and time. Copyright © 2017 the Author(s). Published by PNAS.

  16. Midsagittal Brain Variation among Non-Human Primates: Insights into Evolutionary Expansion of the Human Precuneus.

    Science.gov (United States)

    Pereira-Pedro, Ana Sofia; Rilling, James K; Chen, Xu; Preuss, Todd M; Bruner, Emiliano

    2017-01-01

    The precuneus is a major element of the superior parietal lobule, positioned on the medial side of the hemisphere and reaching the dorsal surface of the brain. It is a crucial functional region for visuospatial integration, visual imagery, and body coordination. Previously, we argued that the precuneus expanded in recent human evolution, based on a combination of paleontological, comparative, and intraspecific evidence from fossil and modern human endocasts as well as from human and chimpanzee brains. The longitudinal proportions of this region are a major source of anatomical variation among adult humans and, being much larger in Homo sapiens, is the main characteristic differentiating human midsagittal brain morphology from that of our closest living primate relative, the chimpanzee. In the current shape analysis, we examine precuneus variation in non-human primates through landmark-based models, to evaluate the general pattern of variability in non-human primates, and to test whether precuneus proportions are influenced by allometric effects of brain size. Results show that precuneus proportions do not covary with brain size, and that the main difference between monkeys and apes involves a vertical expansion of the frontal and occipital regions in apes. Such differences might reflect differences in brain proportions or differences in cranial architecture. In this sample, precuneus variation is apparently not influenced by phylogenetic or allometric factors, but does vary consistently within species, at least in chimpanzees and macaques. This result further supports the hypothesis that precuneus expansion in modern humans is not merely a consequence of increasing brain size or of allometric scaling, but rather represents a species-specific morphological change in our lineage. © 2017 S. Karger AG, Basel.

  17. Early survival and height growth of Douglas-fir and lodgepole pine seedlings and variations in site factors following treatment of logging residues.

    Science.gov (United States)

    W. Lopushlnsky; D. Zabowskl; T.D. Anderson

    1992-01-01

    Logging residues were broadcast burned, piled and burned, removed, or left in place after clearcutting in a high-elevation subalpine fir (Abies lasiocarpa (Hook.) Nutt.) lodgepole pine (Pinus contorta Dougl. ex Loud.) forest in north-central Washington. Survival, height growth and foliar nutrient content of planted Douglas-fir...

  18. Variation in ovarian follicle density during human fetal development.

    Science.gov (United States)

    Geber, Selmo; Megale, Rodrigo; Vale, Fabiene; Lanna, Ana Maria Arruda; Cabral, Antônio Carlos Vieira

    2012-09-01

    To obtain a precise estimate of ovarian follicle density and variation in the number of follicles at several gestational ages during human fetal development. Twelve necropsied ovaries from 9 fetuses (gestational age: 24 to 36 weeks) and 3 neonates (who died within the first hours of life) were studied. Ovaries were fixed with 4 % formaldehyde and embedded in paraffin. Serial, 7 mm thick sections of the ovaries were cut and evaluated at every 50 cuts. Follicles were counted in 10 regions (each measuring 625 μm(2)) of the ovarian cortex and the number of follicles per mm³ was calculated. The number of follicles per 0.25 mm² ranged from 10.9 (± 4.8) in a neonate to 34.7 (± 10.6) also in a neonate. Among fetuses, follicle density was lowest at 36 weeks of gestation (11.1 ± 6.2) and highest at 26 weeks (32 ± 8.9). The total number of follicles ranged from 500,000 at the age of 22 weeks to > 1,000,000 at the age of 39 weeks. Our results show a peak in the number of follicles during intrauterine life at approximately 26 weeks, followed by a rapid reduction in this number before birth, providing a step forward towards the understanding of primordial follicular assembly in humans and, ultimately, the identification of the determinants of reproductive capacity.

  19. Variations in the formation of the human caudal spinal cord.

    Science.gov (United States)

    Saraga-Babić, M; Sapunar, D; Wartiovaara, J

    1995-01-01

    Collection of 15 human embryos between 4-8 developmental weeks was used to histologically investigate variations in the development of the caudal part of the spinal cord and the neighboring axial organs (notochord and vertebral column). In the 4-week embryo, two types of neurulation were parallelly observed along the anteroposterior body axis: primary in the areas cranial to the neuroporus caudalis and secondary in the more caudal tail regions. In the 5-week embryos, both parts of the neural tube fused, forming only one continuous lumen in the developing spinal cord. In the three examined embryos we found anomalous pattern of spinal cord formation. Caudal parts of these spinal cords displayed division of their central canal into two or three separate lumina, each surrounded by neuroepithelial layer. In the caudal area of the spinal cord, derived by secondary neurulation, formation of separate lumina was neither connected to any anomalous notochord or vertebral column formation, nor the appearance of any major axial disturbances. We suggest that development of the caudal part of the spinal cord differs from its cranial region not only in the type of neurulation, but also in the destiny of its derivatives and possible modes of abnormality formation.

  20. HSP90 Shapes the Consequences of Human Genetic Variation.

    Science.gov (United States)

    Karras, Georgios I; Yi, Song; Sahni, Nidhi; Fischer, Máté; Xie, Jenny; Vidal, Marc; D'Andrea, Alan D; Whitesell, Luke; Lindquist, Susan

    2017-02-23

    HSP90 acts as a protein-folding buffer that shapes the manifestations of genetic variation in model organisms. Whether HSP90 influences the consequences of mutations in humans, potentially modifying the clinical course of genetic diseases, remains unknown. By mining data for >1,500 disease-causing mutants, we found a strong correlation between reduced phenotypic severity and a dominant (HSP90 ≥ HSP70) increase in mutant engagement by HSP90. Examining the cancer predisposition syndrome Fanconi anemia in depth revealed that mutant FANCA proteins engaged predominantly by HSP70 had severely compromised function. In contrast, the function of less severe mutants was preserved by a dominant increase in HSP90 binding. Reducing HSP90's buffering capacity with inhibitors or febrile temperatures destabilized HSP90-buffered mutants, exacerbating FA-related chemosensitivities. Strikingly, a compensatory FANCA somatic mutation from an "experiment of nature" in monozygotic twins both prevented anemia and reduced HSP90 binding. These findings provide one plausible mechanism for the variable expressivity and environmental sensitivity of genetic diseases. Copyright © 2017 Elsevier Inc. All rights reserved.

  1. Anatomical Variations of the Circulus Arteriosus in Cadaveric Human Brains

    Science.gov (United States)

    Gunnal, S. A.; Farooqui, M. S.; Wabale, R. N.

    2014-01-01

    Objective. Circulus arteriosus/circle of Willis (CW) is a polygonal anastomotic channel at the base of the brain which unites the internal carotid and vertebrobasilar system. It maintains the steady and constant supply to the brain. The variations of CW are seen often. The Aim of the present work is to find out the percentage of normal pattern of CW, and the frequency of variations of the CW and to study the morphological and morphometric aspects of all components of CW. Methods. Circulus arteriosus of 150 formalin preserved brains were dissected. Dimensions of all the components forming circles were measured. Variations of all the segments were noted and well photographed. The variations such as aplasia, hypoplasia, duplication, fenestrations, and difference in dimensions with opposite segments were noted. The data collected in the study was analyzed. Results. Twenty-one different types of CW were found in the present study. Normal and complete CW was found in 60%. CW with gross morphological variations was seen in 40%. Maximum variations were seen in the PCoA followed by the ACoA in 50% and 40%, respectively. Conclusion. As it confirms high percentage of variations, all surgical interventions should be preceded by angiography. Awareness of these anatomical variations is important in neurovascular procedures. PMID:24891951

  2. Influence of the height of the vegetation cover in the variation of the kinetic energy of raindrops intercepted; Influencia de la altura de la cubierta vegetal en la variacion de la energia cinetica de las gotas de lluvia interceptadas

    Energy Technology Data Exchange (ETDEWEB)

    Roldan Soriano, M.

    2009-07-01

    The erosive capacity of raindrops is function of mass (size) and terminal velocity. Drop mass and velocity govern the inherent erosivity of rainfall through kinetic energy. Kinetic energy is a very important property of the rainfall because it is one of the sources of energy in the process of water erosion. Vegetative canopy intercepts the raindrops and causes a variation on this rainfall kinetic energy due to modification of diameters and velocities distributions. If the height of canopy is enough, the bigger intercepted drops could achieve high velocities and their kinetic energies can increases. In this paper a quantitative evaluation of the increase of kinetic energy of intercepted drops is obtained and it is showed that this kinetic energy increases exponentially with vegetation height. (Author) 9 refs.

  3. Seasonal and height variation of gravity wave activities observed by a meteor radar at King Sejong Station (62°S, 57°W), Antarctica

    Science.gov (United States)

    Kim, Y.; Lee, C.; Kim, J.; Choi, J.; Jee, G.

    2010-12-01

    We have analyzed wind data from individual meteor echoes detected by a meteor radar at King Sejong Station, Antarctica to measure gravity wave activity in the mesopause region. Wind data in the meteor altitudes has been obtained routinely by the meteor radar since its installation in March 2007. The mean variances in the wind data that were filtered for large scale motions (mean winds and tides) can be regarded as the gravity wave activity. Monthly mean gravity wave activities show strong seasonal and height dependences in the altitude range of 80 to 100 km. The gravity wave activities except summer monotonically increase with altitude, which is expected since decreasing atmospheric densities cause wave amplitudes to increase. During summer (Dec. - Feb.) the height profiles of gravity wave activities show a minimum near 90 - 95 km, which may be due to different zonal wind and strong wind shear near 80 - 95 km. Our gravity wave activities are generally stronger than those of the Rothera station, implying sensitive dependency on location. The difference may be related to gravity wave sources in the lower atmosphere near Antarctic vortex.

  4. Errors in data interpretation from genetic variation of human analytes

    OpenAIRE

    Howie, Heather L.; Delaney, Meghan; Wang, Xiaohong; Er, Lay See; Kapp, Linda; Lebedev, Jenna N.; Zimring, James C.

    2017-01-01

    In recent years, the extent of our vulnerability to misinterpretation due to poorly characterized reagents has become an issue of great concern. Antibody reagents have been identified as a major source of error, contributing to the ?reproducibility crisis.? In the current report, we define an additional dimension of the crisis; in particular, we define variation of the targets being analyzed. We report that natural variation in the immunoglobulin ?constant? region alters the reactivity with c...

  5. The importance of postural cues for determining eye height in immersive virtual reality.

    Science.gov (United States)

    Leyrer, Markus; Linkenauger, Sally A; Bülthoff, Heinrich H; Mohler, Betty J

    2015-01-01

    In human perception, the ability to determine eye height is essential, because eye height is used to scale heights of objects, velocities, affordances and distances, all of which allow for successful environmental interaction. It is well understood that eye height is fundamental to determine many of these percepts. Yet, how eye height itself is provided is still largely unknown. While the information potentially specifying eye height in the real world is naturally coincident in an environment with a regular ground surface, these sources of information can be easily divergent in similar and common virtual reality scenarios. Thus, we conducted virtual reality experiments where we manipulated the virtual eye height in a distance perception task to investigate how eye height might be determined in such a scenario. We found that humans rely more on their postural cues for determining their eye height if there is a conflict between visual and postural information and little opportunity for perceptual-motor calibration is provided. This is demonstrated by the predictable variations in their distance estimates. Our results suggest that the eye height in such circumstances is informed by postural cues when estimating egocentric distances in virtual reality and consequently, does not depend on an internalized value for eye height.

  6. The importance of postural cues for determining eye height in immersive virtual reality.

    Directory of Open Access Journals (Sweden)

    Markus Leyrer

    Full Text Available In human perception, the ability to determine eye height is essential, because eye height is used to scale heights of objects, velocities, affordances and distances, all of which allow for successful environmental interaction. It is well understood that eye height is fundamental to determine many of these percepts. Yet, how eye height itself is provided is still largely unknown. While the information potentially specifying eye height in the real world is naturally coincident in an environment with a regular ground surface, these sources of information can be easily divergent in similar and common virtual reality scenarios. Thus, we conducted virtual reality experiments where we manipulated the virtual eye height in a distance perception task to investigate how eye height might be determined in such a scenario. We found that humans rely more on their postural cues for determining their eye height if there is a conflict between visual and postural information and little opportunity for perceptual-motor calibration is provided. This is demonstrated by the predictable variations in their distance estimates. Our results suggest that the eye height in such circumstances is informed by postural cues when estimating egocentric distances in virtual reality and consequently, does not depend on an internalized value for eye height.

  7. Frequency variations of discrete cranial traits in major human populations. I. Supernumerary ossicle variations.

    Science.gov (United States)

    Hanihara, T; Ishida, H

    2001-06-01

    Four supernumerary ossicle variations-the ossicle at the lambda, the parietal notch bone, the asterionic bone, and the occipitomastoid bone-were examined for laterality differences, intertrait correlations, sex differences, and between group variations in the samples from around the world. Significant laterality differences were not detected in almost all samples. In some pairs of traits, significant association of occurrence were found. Several geographic samples were sexually dimorphic with respect to the asterionic bone and to a lesser extent for the parietal notch bone. East/Northeast Asians including the Arctic populations in general had lower frequencies of the 4 accessory ossicles. Australians, Melanesians and the majority of the New World peoples, on the other hand, generally had high frequencies. In the western hemisphere of the Old World, Subsaharan Africans had relatively high frequencies. Except for the ossicle at the lambda, the distribution pattern in incidence showed clinal variation from south to north. Any identifiable adaptive value related to environmental or subsistence factors may be expressed in such clinal variation. This may allow us to hypothesise that not only mechanical factors but a founder effect, genetic drift, and population structure could have been the underlying causes for interregional variation and possible clines in the incidences of the accessory ossicles.

  8. A Rare Variation of the Human Median Nerve Direction

    Directory of Open Access Journals (Sweden)

    Barfi

    2016-04-01

    Full Text Available Introduction The brachial plexus, a complex network of nerves, innervates to the upper limbs. Variation in the course of the nerves in the upper limb is common. Case Presentation This paper describes two cases of upper limb variations in a cadaver dissected at Lorestan University of Medical Sciences. In the first variation, the median nerve in the arm has a different route, so that the median moves deep into the brachialis muscle. In the latter case, after piercing the coracobrachialis muscle a musculocutaneous nerve exists between the brachialis and biceps and goes to the lateral region of the forearm. This is known as the lateral cutaneous nerve of the forearm nerve, and innervates the skin of the lateral part of the forearm and the dorsal part of the hand. Conclusions Because of the possibility of damage to the brachial plexus branches is high in upper limb injuries and surgeries, full knowledge of normal anatomy and variations of these branches is essential for orthopedic specialists, neurosurgeons, radiologists, and anatomists.

  9. Induced micro-mutations in rice - the frequency and spectrum of gamma ray induced height variations in rice variety-Jaya

    International Nuclear Information System (INIS)

    Nair, N.K.; Ninan, C.A.

    1975-01-01

    Seeds of rice variety, Jaya, treated with moderate doses of (10, 20 and 30 kR) gamma rays were subjected to study the relative magnitude of induced variability and the type of mutations induced for height of plant in M 2 and M 3 generations. Progenies of 3352 M 1 spikes, totalling to 35691 M 2 plants and their subsequent progenies in M 3 were analysed. To get wider variability, very large populations in all the generations were studied. The mean value, genetic variance and phenotypic frequency distribution with and between generations were studied. The treated population showed no significant shift in mean values from that of control. The variance was greater in the irradiated material compared to control. The variability was found to shift in both plus and minus direction from that of control with a higher frequency in the minus direction in M 2 . A high frequency of dwarf mutants was observed in 20 kR treated population in the M 2 generation. The segregation ratio was higher in M 2 compared to M 3 generation. (author)

  10. Monoterpene chemical speciation in a tropical rainforest:variation with season, height, and time of dayat the Amazon Tall Tower Observatory (ATTO)

    Science.gov (United States)

    María Yáñez-Serrano, Ana; Nölscher, Anke Christine; Bourtsoukidis, Efstratios; Gomes Alves, Eliane; Ganzeveld, Laurens; Bonn, Boris; Wolff, Stefan; Sa, Marta; Yamasoe, Marcia; Williams, Jonathan; Andreae, Meinrat O.; Kesselmeier, Jürgen

    2018-03-01

    Speciated monoterpene measurements in rainforest air are scarce, but they are essential for understanding the contribution of these compounds to the overall reactivity of volatile organic compound (VOC) emissions towards the main atmospheric oxidants, such as hydroxyl radicals (OH), ozone (O3) and nitrate radicals (NO3). In this study, we present the chemical speciation of gas-phase monoterpenes measured in the tropical rainforest at the Amazon Tall Tower Observatory (ATTO, Amazonas, Brazil). Samples of VOCs were collected by two automated sampling systems positioned on a tower at 12 and 24 m height and analysed using gas chromatography-flame ionization detection. The samples were collected in October 2015, representing the dry season, and compared with previous wet and dry season studies at the site. In addition, vertical profile measurements (at 12 and 24 m) of total monoterpene mixing ratios were made using proton-transfer-reaction mass spectrometry. The results showed a distinctly different chemical speciation between day and night. For instance, α-pinene was more abundant during the day, whereas limonene was more abundant at night. Reactivity calculations showed that higher abundance does not generally imply higher reactivity. Furthermore, inter- and intra-annual results demonstrate similar chemodiversity during the dry seasons analysed. Simulations with a canopy exchange modelling system show simulated monoterpene mixing ratios that compare relatively well with the observed mixing ratios but also indicate the necessity of more experiments to enhance our understanding of in-canopy sinks of these compounds.

  11. Genetic analysis of variation in human meiotic recombination.

    Directory of Open Access Journals (Sweden)

    Reshmi Chowdhury

    2009-09-01

    Full Text Available The number of recombination events per meiosis varies extensively among individuals. This recombination phenotype differs between female and male, and also among individuals of each gender. In this study, we used high-density SNP genotypes of over 2,300 individuals and their offspring in two datasets to characterize recombination landscape and to map the genetic variants that contribute to variation in recombination phenotypes. We found six genetic loci that are associated with recombination phenotypes. Two of these (RNF212 and an inversion on chromosome 17q21.31 were previously reported in the Icelandic population, and this is the first replication in any other population. Of the four newly identified loci (KIAA1462, PDZK1, UGCG, NUB1, results from expression studies provide support for their roles in meiosis. Each of the variants that we identified explains only a small fraction of the individual variation in recombination. Notably, we found different sequence variants associated with female and male recombination phenotypes, suggesting that they are regulated by different genes. Characterization of genetic variants that influence natural variation in meiotic recombination will lead to a better understanding of normal meiotic events as well as of non-disjunction, the primary cause of pregnancy loss.

  12. Normal human bone marrow and its variations in MRI

    International Nuclear Information System (INIS)

    Vahlensieck, M.; Schmidt, H.M.

    2000-01-01

    Physiology and age dependant changes of human bone marrow are described. The resulting normal distribution patterns of active and inactive bone marrow including the various contrasts on different MR-sequences are discussed. (orig.) [de

  13. Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

    NARCIS (Netherlands)

    Collins, Ryan L; Brand, Harrison; Redin, Claire E.; Hanscom, Carrie; Antolik, Caroline; Stone, Matthew R; Glessner, Joseph T.; Mason, Tamara; Pregno, Giulia; Dorrani, Naghmeh; Mandrile, Giorgia; Giachino, Daniela; Perrin, Danielle; Walsh, Cole; Cipicchio, Michelle; Costello, Maura; Stortchevoi, Alexei; An, Joon Yong; Currall, Benjamin B; Seabra, Catarina M; Ragavendran, Ashok; Margolin, Lauren; Martinez-Agosto, Julian A.; Lucente, Diane; Levy, Brynn; Sanders, Jan-Stephan; Wapner, Ronald J.; Quintero-Rivera, Fabiola; Kloosterman, Wigard; Talkowski, Michael E.

    2017-01-01

    Background: Structural variation (SV) influences genome organization and contributes to human disease. However, the complete mutational spectrum of SV has not been routinely captured in disease association studies. Results: We sequenced 689 participants with autism spectrum disorder (ASD) and other

  14. The Body as a Substrate of Differentiation. Shifting the Focus from Race Science to Life Scientists' Research on Human Variation

    OpenAIRE

    Lipphardt, Veronika

    2017-01-01

    Abstract This article suggests to focus on the history of human variation instead of focussing on the history of race science. It views the latter as a subset of the former, hence views race science as embedded into the larger field of life scientists' investigations into human variation. This paper explores why human variation is such an attractive and productive object particularly for the life sciences. It proposes that knowledge about human variation is incomplete in a promising way, and ...

  15. Characterization and potential functional significance of human-chimpanzee large INDEL variation

    Directory of Open Access Journals (Sweden)

    Polavarapu Nalini

    2011-10-01

    Full Text Available Abstract Background Although humans and chimpanzees have accumulated significant differences in a number of phenotypic traits since diverging from a common ancestor about six million years ago, their genomes are more than 98.5% identical at protein-coding loci. This modest degree of nucleotide divergence is not sufficient to explain the extensive phenotypic differences between the two species. It has been hypothesized that the genetic basis of the phenotypic differences lies at the level of gene regulation and is associated with the extensive insertion and deletion (INDEL variation between the two species. To test the hypothesis that large INDELs (80 to 12,000 bp may have contributed significantly to differences in gene regulation between the two species, we categorized human-chimpanzee INDEL variation mapping in or around genes and determined whether this variation is significantly correlated with previously determined differences in gene expression. Results Extensive, large INDEL variation exists between the human and chimpanzee genomes. This variation is primarily attributable to retrotransposon insertions within the human lineage. There is a significant correlation between differences in gene expression and large human-chimpanzee INDEL variation mapping in genes or in proximity to them. Conclusions The results presented herein are consistent with the hypothesis that large INDELs, particularly those associated with retrotransposons, have played a significant role in human-chimpanzee regulatory evolution.

  16. Inter-specific variation in avian responses to human disturbance

    Science.gov (United States)

    Daniel T. Blumstein; Esteban Fernandez-Juricic; Patrick A. Zollner; Susan C. Garity

    2005-01-01

    1. Increasing urbanization and recreational activities around and within biodiversity hotspots require an understanding of how to reduce the impacts of human disturbance on more than a single species; however, we lack a general framework to study multiple species. One approach is to expand on knowledge about the theory of anti-predator behaviour to understand and...

  17. Fear of heights and visual height intolerance.

    Science.gov (United States)

    Brandt, Thomas; Huppert, Doreen

    2014-02-01

    The aim of this review is, first, to cover the different aspects of visual height intolerance such as historical descriptions, definition of terms, phenomenology of the condition, neurophysiological control of gaze, stance and locomotion, and therapy, and, second, to identify warranted epidemiological and experimental studies. Vivid descriptions of fear of heights can be found in ancient texts from the Greek, Roman, and Chinese classics. The life-time prevalence of visual height intolerance is as high as 28% in the general population, and about 50% of those who are susceptible report an impact on quality of life. When exposed to heights, visual exploration by eye and head movements is restricted, and the velocity of locomotion is reduced. Therapy for fear of heights is dominated by the behavioral techniques applied during real or virtual reality exposure. Their efficacy might be facilitated by the administration of D-cycloserine or glucocorticoids. Visual height intolerance has a considerable impact on daily life and interpersonal interactions. It is much more frequent than fear of heights, which is defined as an environmental subtype of a specific phobia. There is certainly a continuum stretching from acrophobia to a less-pronounced visual height intolerance, to which the categorical distinction of a specific phobia does not apply.

  18. Original article Temperamental variation in learned irrelevance in humans

    Directory of Open Access Journals (Sweden)

    Aleksandra Gruszka

    2015-07-01

    Full Text Available Background Learned irrelevance (LIRR represents one of the mechanisms of attentional set-shifting and refers to the inability to attend to, or to learn about, any aspect of a stimulus previously experienced as irrelevant. Although it has been extensively studied in the context of clinical populations, not much is known about LIRR effects in relation to normal variation in individual differences. The present study was designed to assess how temperamental factors may modulate LIRR. Participants and procedures Sixty-eight healthy volunteers performed a visual discrimination learning task modelled after Wisconsin Card Sorting Test. To test the susceptibility to learned irrelevance, participants were expected to shift their attention either to a dimension that prior to the extra-dimensional shift was completely irrelevant, or to a dimension that was previously partly correlated with reinforcement. Temperamental traits were assessed using the Formal Characteristics of Behaviour-Temperament Inventory (Zawadzki & Strelau, 1997. Intelligence level was stratified according to Raven’s Advanced Progressive Matrices (Raven, Raven, & Court, 2003. Results Low level of Briskness and high level of Perseverance were related to enhanced susceptibility to LIRR. High levels of Activity and Emotional Reactivity were related to the poorer performance on the extra-dimensional set-shifting. No effects of other temperament characteristics or intelligence on LIRR were observed. Conclusions The results confirm a strong variation in LIRR related to individual differences in temperament, which appears to be unrelated to DA function. Our results highlight the importance of considering individual differences in studies on cognitive control.

  19. Anatomical-clinical investigations of variations of the human coronary arteries

    OpenAIRE

    Aida Hasanović; Faruk Dilberović; Fehim Ovčina

    2003-01-01

    Variations of the human coronary arteries have always attracted the attention of many researchers. A review of the literature shows that variations can cause ischemic heart disease or sudden cardiac death. The aim of the investigations was to examine the existence and clinical significance of variations of the human coronary arteries. Special attention has been focused on myocardial bridging of the coronary arteries and coronary arteriovenous fistula. Our investigations were carried out on th...

  20. Qualitative and quantitative estimations of the effect of geomagnetic field variations on human brain functional state

    International Nuclear Information System (INIS)

    Belisheva, N.K.; Popov, A.N.; Petukhova, N.V.; Pavlova, L.P.; Osipov, K.S.; Tkachenko, S.Eh.; Baranova, T.I.

    1995-01-01

    The comparison of functional dynamics of human brain with reference to qualitative and quantitative characteristics of local geomagnetic field (GMF) variations was conducted. Steady and unsteady states of human brain can be determined: by geomagnetic disturbances before the observation period; by structure and doses of GMF variations; by different combinations of qualitative and quantitative characteristics of GMF variations. Decrease of optimal GMF activity level and the appearance of aperiodic disturbances of GMF can be a reason of unsteady brain's state. 18 refs.; 3 figs

  1. Non-codingRNA sequence variations in human chronic lymphocytic leukemia and colorectal cancer.

    Science.gov (United States)

    Wojcik, Sylwia E; Rossi, Simona; Shimizu, Masayoshi; Nicoloso, Milena S; Cimmino, Amelia; Alder, Hansjuerg; Herlea, Vlad; Rassenti, Laura Z; Rai, Kanti R; Kipps, Thomas J; Keating, Michael J; Croce, Carlo M; Calin, George A

    2010-02-01

    Cancer is a genetic disease in which the interplay between alterations in protein-coding genes and non-coding RNAs (ncRNAs) plays a fundamental role. In recent years, the full coding component of the human genome was sequenced in various cancers, whereas such attempts related to ncRNAs are still fragmentary. We screened genomic DNAs for sequence variations in 148 microRNAs (miRNAs) and ultraconserved regions (UCRs) loci in patients with chronic lymphocytic leukemia (CLL) or colorectal cancer (CRC) by Sanger technique and further tried to elucidate the functional consequences of some of these variations. We found sequence variations in miRNAs in both sporadic and familial CLL cases, mutations of UCRs in CLLs and CRCs and, in certain instances, detected functional effects of these variations. Furthermore, by integrating our data with previously published data on miRNA sequence variations, we have created a catalog of DNA sequence variations in miRNAs/ultraconserved genes in human cancers. These findings argue that ncRNAs are targeted by both germ line and somatic mutations as well as by single-nucleotide polymorphisms with functional significance for human tumorigenesis. Sequence variations in ncRNA loci are frequent and some have functional and biological significance. Such information can be exploited to further investigate on a genome-wide scale the frequency of genetic variations in ncRNAs and their functional meaning, as well as for the development of new diagnostic and prognostic markers for leukemias and carcinomas.

  2. Copy number variation of human AMY1 is a minor contributor to variation in salivary amylase expression and activity.

    Science.gov (United States)

    Carpenter, Danielle; Mitchell, Laura M; Armour, John A L

    2017-02-20

    Salivary amylase in humans is encoded by the copy variable gene AMY1 in the amylase gene cluster on chromosome 1. Although the role of salivary amylase is well established, the consequences of the copy number variation (CNV) at AMY1 on salivary amylase protein production are less well understood. The amylase gene cluster is highly structured with a fundamental difference between odd and even AMY1 copy number haplotypes. In this study, we aimed to explore, in samples from 119 unrelated individuals, not only the effects of AMY1 CNV on salivary amylase protein expression and amylase enzyme activity but also whether there is any evidence for underlying difference between the common haplotypes containing odd numbers of AMY1 and even copy number haplotypes. AMY1 copy number was significantly correlated with the variation observed in salivary amylase production (11.7% of variance, P structure may affect expression, but this was not significant in our data.

  3. Continental synchronicity of human influenza virus epidemics despite climactic variation.

    Science.gov (United States)

    Geoghegan, Jemma L; Saavedra, Aldo F; Duchêne, Sebastián; Sullivan, Sheena; Barr, Ian; Holmes, Edward C

    2018-01-01

    The factors that determine the pattern and rate of spread of influenza virus at a continental-scale are uncertain. Although recent work suggests that influenza epidemics in the United States exhibit a strong geographical correlation, the spatiotemporal dynamics of influenza in Australia, a country and continent of approximately similar size and climate complexity but with a far smaller population, are not known. Using a unique combination of large-scale laboratory-confirmed influenza surveillance comprising >450,000 entries and genomic sequence data we determined the local-level spatial diffusion of this important human pathogen nationwide in Australia. We used laboratory-confirmed influenza data to characterize the spread of influenza virus across Australia during 2007-2016. The onset of established epidemics varied across seasons, with highly synchronized epidemics coinciding with the emergence of antigenically distinct viruses, particularly during the 2009 A/H1N1 pandemic. The onset of epidemics was largely synchronized between the most populous cities, even those separated by distances of >3000 km and those that experience vastly diverse climates. In addition, by analyzing global phylogeographic patterns we show that the synchronized dissemination of influenza across Australian cities involved multiple introductions from the global influenza population, coupled with strong domestic connectivity, rather than through the distinct radial patterns of geographic dispersal that are driven by work-flow transmission as observed in the United States. In addition, by comparing the spatial structure of influenza A and B, we found that these viruses tended to occupy different geographic regions, and peak in different seasons, perhaps indicative of moderate cross-protective immunity or viral interference effects. The highly synchronized outbreaks of influenza virus at a continental-scale revealed here highlight the importance of coordinated public health responses in the

  4. Human alteration of the rural landscape: Variations in visual perception

    International Nuclear Information System (INIS)

    Cloquell-Ballester, Vicente-Agustín; Carmen Torres-Sibille, Ana del; Cloquell-Ballester, Víctor-Andrés; Santamarina-Siurana, María Cristina

    2012-01-01

    The objective of this investigation is to evaluate how visual perception varies as the rural landscape is altered by human interventions of varying character. An experiment is carried out using Semantic Differential Analysis to analyse the effect of the character and the type of the intervention on perception. Interventions are divided into elements of “permanent industrial character”, “elements of permanent rural character” and “elements of temporary character”, and these categories are sub-divided into smaller groups according to the type of development. To increase the reliability of the results, the Intraclass Correlation Coefficient tool, is applied to validate the semantic space of the perceptual responses and to determine the number of subjects required for a reliable evaluation of the scenes.

  5. Human alteration of the rural landscape: Variations in visual perception

    Energy Technology Data Exchange (ETDEWEB)

    Cloquell-Ballester, Vicente-Agustin, E-mail: cloquell@dpi.upv.es; Carmen Torres-Sibille, Ana del; Cloquell-Ballester, Victor-Andres; Santamarina-Siurana, Maria Cristina

    2012-01-15

    The objective of this investigation is to evaluate how visual perception varies as the rural landscape is altered by human interventions of varying character. An experiment is carried out using Semantic Differential Analysis to analyse the effect of the character and the type of the intervention on perception. Interventions are divided into elements of 'permanent industrial character', 'elements of permanent rural character' and 'elements of temporary character', and these categories are sub-divided into smaller groups according to the type of development. To increase the reliability of the results, the Intraclass Correlation Coefficient tool, is applied to validate the semantic space of the perceptual responses and to determine the number of subjects required for a reliable evaluation of the scenes.

  6. Variation in macronutrients in human bank milk: Influencing factors and implications for human milk banking

    DEFF Research Database (Denmark)

    Michaelsen, K F; Skafte, Ester Lis; Badsberg, Jens Henrik

    1990-01-01

    . There was a large variation in the concentration of energy-yielding macronutrients. The contents of P, F, C, and E in the samples with the highest values (97.5 percentile) were 2.3-, 4.8-, 1.2-, and 2.3-fold, respectively, above the contents in the samples with the lowest values (2.5 percentile). The P content...... decreased exponentially during the 1st 8 months, followed by an increase during the following months. The F content decreased during the 1st 4 months, followed by an almost linear increase. The possible influence of different maternal characteristics on the macronutrient content of the milk was examined...... with a high P content, we have developed a "high-protein" milk with a P content of about 12 g/L (true protein) and an E content of about 725 kcal/L. Thus, by continuous monitoring of macronutrient content in human bank milk it is possible to develop a "high-protein" milk with sufficient P and E content...

  7. Intra-individual metameric variation expressed at the enamel-dentine junction of lower post-canine dentition of South African fossil hominins and modern humans.

    Science.gov (United States)

    Pan, Lei; Thackeray, John Francis; Dumoncel, Jean; Zanolli, Clément; Oettlé, Anna; de Beer, Frikkie; Hoffman, Jakobus; Duployer, Benjamin; Tenailleau, Christophe; Braga, José

    2017-08-01

    The aim of this study is to compare the degree and patterning of inter- and intra-individual metameric variation in South African australopiths, early Homo and modern humans. Metameric variation likely reflects developmental and taxonomical issues, and could also be used to infer ecological and functional adaptations. However, its patterning along the early hominin postcanine dentition, particularly among South African fossil hominins, remains unexplored. Using microfocus X-ray computed tomography (µXCT) and geometric morphometric tools, we studied the enamel-dentine junction (EDJ) morphology and we investigated the intra- and inter-individual EDJ metameric variation among eight australopiths and two early Homo specimens from South Africa, as well as 32 modern humans. Along post-canine dentition, shape changes between metameres represented by relative positions and height of dentine horns, outlines of the EDJ occlusal table are reported in modern and fossil taxa. Comparisons of EDJ mean shapes and multivariate analyses reveal substantial variation in the direction and magnitude of metameric shape changes among taxa, but some common trends can be found. In modern humans, both the direction and magnitude of metameric shape change show increased variability in M 2 -M 3 compared to M 1 -M 2 . Fossil specimens are clustered together showing similar magnitudes of shape change. Along M 2 -M 3 , the lengths of their metameric vectors are not as variable as those of modern humans, but they display considerable variability in the direction of shape change. The distalward increase of metameric variation along the modern human molar row is consistent with the odontogenetic models of molar row structure (inhibitory cascade model). Though much remains to be tested, the variable trends and magnitudes in metamerism in fossil hominins reported here, together with differences in the scale of shape change between modern humans and fossil hominins may provide valuable information

  8. Seasonal variations in health-related human physical activity.

    Science.gov (United States)

    Reilly, Thomas; Peiser, Benny

    2006-01-01

    There are profound fluctuations in climate that occur within the annual cycle of seasonal changes. The severity of these changes depends on latitude of location and prevailing topography. Living creatures have evolved means of coping with seasonal extremes. Endogenous circannual cycles, at least in humans, appear to have been masked by mechanisms employed to cope with environmental changes. Physical activity levels tend to be lower in winter than in summer, mediating effects on health-related fitness. In athletes, seasonal changes are dictated by requirements of the annual programme of competitive engagements rather than an inherent circannual rhythm. Injury rates are influenced by seasonal environmental factors, notably in field sports. Season of birth has been related to susceptibility to selected morbidities, including mental ill-health. In age-restricted sports, there is a date-of-birth bias favouring those individuals born early in the competitive year. Trainers and selectors should acknowledge this trend if they are to avoid omitting gifted individuals, born later in the year, from talent development programmes.

  9. Temporal and spatial variation of the human microbiota during pregnancy.

    Science.gov (United States)

    DiGiulio, Daniel B; Callahan, Benjamin J; McMurdie, Paul J; Costello, Elizabeth K; Lyell, Deirdre J; Robaczewska, Anna; Sun, Christine L; Goltsman, Daniela S A; Wong, Ronald J; Shaw, Gary; Stevenson, David K; Holmes, Susan P; Relman, David A

    2015-09-01

    Despite the critical role of the human microbiota in health, our understanding of microbiota compositional dynamics during and after pregnancy is incomplete. We conducted a case-control study of 49 pregnant women, 15 of whom delivered preterm. From 40 of these women, we analyzed bacterial taxonomic composition of 3,767 specimens collected prospectively and weekly during gestation and monthly after delivery from the vagina, distal gut, saliva, and tooth/gum. Linear mixed-effects modeling, medoid-based clustering, and Markov chain modeling were used to analyze community temporal trends, community structure, and vaginal community state transitions. Microbiota community taxonomic composition and diversity remained remarkably stable at all four body sites during pregnancy (P > 0.05 for trends over time). Prevalence of a Lactobacillus-poor vaginal community state type (CST 4) was inversely correlated with gestational age at delivery (P = 0.0039). Risk for preterm birth was more pronounced for subjects with CST 4 accompanied by elevated Gardnerella or Ureaplasma abundances. This finding was validated with a set of 246 vaginal specimens from nine women (four of whom delivered preterm). Most women experienced a postdelivery disturbance in the vaginal community characterized by a decrease in Lactobacillus species and an increase in diverse anaerobes such as Peptoniphilus, Prevotella, and Anaerococcus species. This disturbance was unrelated to gestational age at delivery and persisted for up to 1 y. These findings have important implications for predicting premature labor, a major global health problem, and for understanding the potential impact of a persistent, altered postpartum microbiota on maternal health, including outcomes of pregnancies following short interpregnancy intervals.

  10. Heritability of adult body height

    DEFF Research Database (Denmark)

    Silventoinen, Karri; Sammalisto, Sampo; Perola, Markus

    2003-01-01

    /unique environment (AE) model. Among women the heritability estimates were generally lower than among men with greater variation between countries, ranging from 0.68 to 0.84 when an additive genes/shared environment/unique environment (ACE) model was used. In four populations where an AE model fit equally well...... countries; body height was least in Italy (177 cm in men and 163 cm in women) and greatest in the Netherlands (184 cm and 171 cm, respectively). In men there was no corresponding variation in heritability of body height, heritability estimates ranging from 0.87 to 0.93 in populations under an additive genes...... or better, heritability ranged from 0.89 to 0.93. This difference between the sexes was mainly due to the effect of the shared environmental component of variance, which appears to be more important among women than among men in our study populations. Our results indicate that, in general, there are only...

  11. Fall from heights: does height really matter?

    Science.gov (United States)

    Alizo, G; Sciarretta, J D; Gibson, S; Muertos, K; Romano, A; Davis, J; Pepe, A

    2018-06-01

    Fall from heights is high energy injuries and constitutes a fraction of all fall-related trauma evaluations while bearing an increase in morbidity and mortality. We hypothesize that despite advancements in trauma care, the overall survivability has not improved in this subset of trauma patients. All adult trauma patients treated after sustaining a fall from heights during a 40-month period were retrospectively reviewed. Admission demographics, clinical data, fall height (ft), injury patterns, ISS, GCS, length of stay, and mortality were reviewed. 116 patients sustained a fall from heights, 90.4% accidental. A mean age of 37± 14.7 years, 86% male, and a fall height of 19 ± 10 ft were encountered. Admission GCS was 13 ± 2 with ISS 10 ± 11. Overall LOS was 6.6 ± 14.9 days and an ICU LOS of 2.8 ± 8.9 days. Falls ≥ 25 ft.(16%) had lower GCS 10.4 ± 5.8, increased ISS 22.6 ± 13.8, a fall height 37.9 ± 13.1 ft and associated increased mortality (p < 0.001). Mortality was 5.2%, a mean distance fallen of 39 ± 22 ft. and an ISS of 31.5 ±16.5. Brain injury was the leading cause of death, 50% with open skull fractures. Level of height fallen is a good predictor of overall outcome and survival. Despite advances in trauma care, death rates remain unchanged. Safety awareness and injury prevention programs are needed to reduce the risk of high-level falls.

  12. Landscape and variation of RNA secondary structure across the human transcriptome.

    OpenAIRE

    Wan, Y; Qu, K; Zhang, QC; Flynn, RA; Manor, O; Ouyang, Z; Zhang, J; Spitale, RC; Snyder, MP; Segal, E; Chang, HY

    2014-01-01

    In parallel to the genetic code for protein synthesis, a second layer of information is embedded in all RNA transcripts in the form of RNA structure. RNA structure influences practically every step in the gene expression program. However, the nature of most RNA structures or effects of sequence variation on structure are not known. Here we report the initial landscape and variation of RNA secondary structures (RSSs) in a human family trio (mother, father and their child). This provides a comp...

  13. Identification of species and genetic variation in Taenia isolates from human and swine of North India.

    Science.gov (United States)

    Singh, Satyendra K; Prasad, Kashi N; Singh, Aloukick K; Gupta, Kamlesh K; Chauhan, Ranjeet S; Singh, Amrita; Singh, Avinash; Rai, Ravi P; Pati, Binod K

    2016-10-01

    Taenia solium is the major cause of taeniasis and cysticercosis/neurocysticercosis (NCC) in the developing countries including India, but the existence of other Taenia species and genetic variation have not been studied in India. So, we studied the existence of different Taenia species, and sequence variation in Taenia isolates from human (proglottids and cysticerci) and swine (cysticerci) in North India. Amplification of cytochrome c oxidase subunit 1 gene (cox1) was done by polymerase chain reaction (PCR) followed by sequencing and phylogenetic analysis. We identified two species of Taenia i.e. T. solium and Taenia asiatica in our isolates. T. solium isolates showed similarity with Asian genotype and nucleotide variations from 0.25 to 1.01 %, whereas T. asiatica displayed nucleotide variations ranged from 0.25 to 0.5 %. These findings displayed the minimal genetic variations in North Indian isolates of T. solium and T. asiatica.

  14. Humans and Deep Networks Largely Agree on Which Kinds of Variation Make Object Recognition Harder.

    Science.gov (United States)

    Kheradpisheh, Saeed R; Ghodrati, Masoud; Ganjtabesh, Mohammad; Masquelier, Timothée

    2016-01-01

    View-invariant object recognition is a challenging problem that has attracted much attention among the psychology, neuroscience, and computer vision communities. Humans are notoriously good at it, even if some variations are presumably more difficult to handle than others (e.g., 3D rotations). Humans are thought to solve the problem through hierarchical processing along the ventral stream, which progressively extracts more and more invariant visual features. This feed-forward architecture has inspired a new generation of bio-inspired computer vision systems called deep convolutional neural networks (DCNN), which are currently the best models for object recognition in natural images. Here, for the first time, we systematically compared human feed-forward vision and DCNNs at view-invariant object recognition task using the same set of images and controlling the kinds of transformation (position, scale, rotation in plane, and rotation in depth) as well as their magnitude, which we call "variation level." We used four object categories: car, ship, motorcycle, and animal. In total, 89 human subjects participated in 10 experiments in which they had to discriminate between two or four categories after rapid presentation with backward masking. We also tested two recent DCNNs (proposed respectively by Hinton's group and Zisserman's group) on the same tasks. We found that humans and DCNNs largely agreed on the relative difficulties of each kind of variation: rotation in depth is by far the hardest transformation to handle, followed by scale, then rotation in plane, and finally position (much easier). This suggests that DCNNs would be reasonable models of human feed-forward vision. In addition, our results show that the variation levels in rotation in depth and scale strongly modulate both humans' and DCNNs' recognition performances. We thus argue that these variations should be controlled in the image datasets used in vision research.

  15. Humans and deep networks largely agree on which kinds of variation make object recognition harder

    Directory of Open Access Journals (Sweden)

    Saeed Reza Kheradpisheh

    2016-08-01

    Full Text Available View-invariant object recognition is a challenging problem that has attracted much attention among the psychology, neuroscience, and computer vision communities. Humans are notoriously good at it, even if some variations are presumably more difficult to handle than others (e.g. 3D rotations. Humans are thought to solve the problem through hierarchical processing along the ventral stream, which progressively extracts more and more invariant visual features. This feed-forward architecture has inspired a new generation of bio-inspired computer vision systems called deep convolutional neural networks (DCNN, which are currently the best models for object recognition in natural images. Here, for the first time, we systematically compared human feed-forward vision and DCNNs at view-invariant object recognition task using the same set of images and controlling the kinds of transformation (position, scale, rotation in plane, and rotation in depth as well as their magnitude, which we call variation level. We used four object categories: car, ship, motorcycle, and animal. In total, 89 human subjects participated in 10 experiments in which they had to discriminate between two or four categories after rapid presentation with backward masking. We also tested two recent DCNNs (proposed respectively by Hinton's group and Zisserman's group on the same tasks. We found that humans and DCNNs largely agreed on the relative difficulties of each kind of variation: rotation in depth is by far the hardest transformation to handle, followed by scale, then rotation in plane, and finally position (much easier. This suggests that DCNNs would be reasonable models of human feed-forward vision. In addition, our results show that the variation levels in rotation in depth and scale strongly modulate both humans' and DCNNs' recognition performances. We thus argue that these variations should be controlled in the image datasets used in vision research.

  16. Genetic Variation and Adaptation in Africa: Implications for Human Evolution and Disease

    Science.gov (United States)

    Gomez, Felicia; Hirbo, Jibril; Tishkoff, Sarah A.

    2014-01-01

    Because modern humans originated in Africa and have adapted to diverse environments, African populations have high levels of genetic and phenotypic diversity. Thus, genomic studies of diverse African ethnic groups are essential for understanding human evolutionary history and how this leads to differential disease risk in all humans. Comparative studies of genetic diversity within and between African ethnic groups creates an opportunity to reconstruct some of the earliest events in human population history and are useful for identifying patterns of genetic variation that have been influenced by recent natural selection. Here we describe what is currently known about genetic variation and evolutionary history of diverse African ethnic groups. We also describe examples of recent natural selection in African genomes and how these data are informative for understanding the frequency of many genetic traits, including those that cause disease susceptibility in African populations and populations of recent African descent. PMID:24984772

  17. Human-specific HERV-K insertion causes genomic variations in the human genome.

    Directory of Open Access Journals (Sweden)

    Wonseok Shin

    Full Text Available Human endogenous retroviruses (HERV sequences account for about 8% of the human genome. Through comparative genomics and literature mining, we identified a total of 29 human-specific HERV-K insertions. We characterized them focusing on their structure and flanking sequence. The results showed that four of the human-specific HERV-K insertions deleted human genomic sequences via non-classical insertion mechanisms. Interestingly, two of the human-specific HERV-K insertion loci contained two HERV-K internals and three LTR elements, a pattern which could be explained by LTR-LTR ectopic recombination or template switching. In addition, we conducted a polymorphic test and observed that twelve out of the 29 elements are polymorphic in the human population. In conclusion, human-specific HERV-K elements have inserted into human genome since the divergence of human and chimpanzee, causing human genomic changes. Thus, we believe that human-specific HERV-K activity has contributed to the genomic divergence between humans and chimpanzees, as well as within the human population.

  18. Human fertility variation, size-related obstetrical performance and the evolution of sexual stature dimorphism

    OpenAIRE

    Guégan, Jean-François; Teriokhin, A.T.; Thomas, F.

    2000-01-01

    In several animal species, change in sexual size dimorphism is a correlated response to selection on fecundity. In humans, different hypotheses have been proposed to explain the variation of sexual dimorphism in stature, but no consensus has yet emerged. In this paper, we evaluate from a theoretical and an empirical point of view the hypothesis that the extent of sexual dimorphism in human populations results from the interaction between fertility and size-related obstetric complications. We ...

  19. Feedforward Object-Vision Models Only Tolerate Small Image Variations Compared to Human

    Directory of Open Access Journals (Sweden)

    Masoud eGhodrati

    2014-07-01

    Full Text Available Invariant object recognition is a remarkable ability of primates' visual system that its underlying mechanism has constantly been under intense investigations. Computational modelling is a valuable tool toward understanding the processes involved in invariant object recognition. Although recent computational models have shown outstanding performances on challenging image databases, they fail to perform well when images with more complex variations of the same object are applied to them. Studies have shown that making sparse representation of objects by extracting more informative visual features through a feedforward sweep can lead to higher recognition performances. Here, however, we show that when the complexity of image variations is high, even this approach results in poor performance compared to humans. To assess the performance of models and humans in invariant object recognition tasks, we built a parametrically controlled image database consisting of several object categories varied in different dimensions and levels, rendered from 3D planes. Comparing the performance of several object recognition models with human observers shows that only in low-level image variations the models perform similar to humans in categorization tasks. Furthermore, the results of our behavioral experiments demonstrate that, even under difficult experimental conditions (i.e. briefly presented masked stimuli with complex image variations, human observers performed outstandingly well, suggesting that the models are still far from resembling humans in invariant object recognition. Taken together, we suggest that learning sparse informative visual features, although desirable, is not a complete solution for future progresses in object-vision modelling. We show that this approach is not of significant help in solving the computational crux of object recognition (that is invariant object recognition when the identity-preserving image variations become more complex.

  20. Patterns of genic intolerance of rare copy number variation in 59,898 human exomes

    Science.gov (United States)

    Ruderfer, Douglas M.; Hamamsy, Tymor; Lek, Monkol; Karczewski, Konrad J.; Kavanagh, David; Samocha, Kaitlin E.; Daly, Mark J.; MacArthur, Daniel G.; Fromer, Menachem; Purcell, Shaun M.

    2016-01-01

    Copy number variation (CNV) impacting protein-coding genes contributes significantly to human diversity and disease. Here we characterized the rates and properties of rare genic CNV (intolerance to CNVs that demonstrated moderate correlation with measures of genic constraint based on single-nucleotide variation (SNV) and was independently correlated with measures of evolutionary conservation. For individuals with schizophrenia, genes impacted by CNVs were more intolerant than in controls. ExAC CNV data constitutes a critical component of an integrated database spanning the spectrum of human genetic variation, aiding the interpretation of personal genomes as well as population-based disease studies. These data are freely available for download and visualization online. PMID:27533299

  1. Integrative analysis of RNA, translation, and protein levels reveals distinct regulatory variation across humans.

    Science.gov (United States)

    Cenik, Can; Cenik, Elif Sarinay; Byeon, Gun W; Grubert, Fabian; Candille, Sophie I; Spacek, Damek; Alsallakh, Bilal; Tilgner, Hagen; Araya, Carlos L; Tang, Hua; Ricci, Emiliano; Snyder, Michael P

    2015-11-01

    Elucidating the consequences of genetic differences between humans is essential for understanding phenotypic diversity and personalized medicine. Although variation in RNA levels, transcription factor binding, and chromatin have been explored, little is known about global variation in translation and its genetic determinants. We used ribosome profiling, RNA sequencing, and mass spectrometry to perform an integrated analysis in lymphoblastoid cell lines from a diverse group of individuals. We find significant differences in RNA, translation, and protein levels suggesting diverse mechanisms of personalized gene expression control. Combined analysis of RNA expression and ribosome occupancy improves the identification of individual protein level differences. Finally, we identify genetic differences that specifically modulate ribosome occupancy--many of these differences lie close to start codons and upstream ORFs. Our results reveal a new level of gene expression variation among humans and indicate that genetic variants can cause changes in protein levels through effects on translation. © 2015 Cenik et al.; Published by Cold Spring Harbor Laboratory Press.

  2. Analysis of indel variations in the human disease-associated genes ...

    Indian Academy of Sciences (India)

    Keywords. insertion–deletion variations; haematological disease; tumours; human genetics. Journal of Genetics ... domly selected healthy Korean individuals using a blood genomic DNA ... Bioinformatics annotation and 3-D protein structure analysis. In this study ..... 2009 A genome-wide meta-analysis identifies. Journal of ...

  3. New Regions of the Human Genome Linked to Skin Color Variation in Some African Populations

    Science.gov (United States)

    In the first study of its kind, an international team of genomics researchers has identified new regions of the human genome that are associated with skin color variation in some African populations, opening new avenues for research on skin diseases and cancer in all populations.

  4. An integrated map of genetic variation from 1.092 human genomes

    DEFF Research Database (Denmark)

    Abecasis, Goncalo R.; Auton, Adam; Brooks, Lisa D.

    2012-01-01

    By characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help to understand the genetic contribution to disease. Here we describe the genomes of 1,092 individuals from 14 populations, constructed using a combination ...

  5. Diffusion tensor imaging of the human calf : Variation of inter- and intramuscle-specific diffusion parameters

    NARCIS (Netherlands)

    Schlaffke, Lara; Rehmann, Robert; Froeling, Martijn; Kley, Rudolf; Tegenthoff, Martin; Vorgerd, Matthias; Schmidt-Wilcke, Tobias

    2017-01-01

    Purpose: To investigate to what extent inter- and intramuscular variations of diffusion parameters of human calf muscles can be explained by age, gender, muscle location, and body mass index (BMI) in a specific age group (20-35 years). Materials and Methods: Whole calf muscles of 18 healthy

  6. Metabolism of styrene in the human liver in vitro: interindividual variation and enantioselectivity

    NARCIS (Netherlands)

    Wenker, M. A.; Kezić, S.; Monster, A. C.; de Wolff, F. A.

    2001-01-01

    1. The interindividual variation and enantioselectivity of the in vitro styrene oxidation by cytochrome P450 have been investigated in 20 human microsomal liver samples. Liver samples were genotyped for the CYP2E1*6 and CYP2E1*5B alleles. 2. Kinetic analysis indicated the presence of at least two

  7. Lack of influence of GTP cyclohydrolase gene (GCH1 variations on pain sensitivity in humans

    Directory of Open Access Journals (Sweden)

    Dionne Raymond A

    2007-03-01

    Full Text Available Abstract Objectives To assess the effect of variations in GTP cyclohydrolase gene (GCH1 on pain sensitivity in humans. Methods Thermal and cold pain sensitivity were evaluated in a cohort of 735 healthy volunteers. Among this cohort, the clinical pain responses of 221 subjects after the surgical removal of impacted third molars were evaluated. Genotyping was done for 38 single nucleotide polymorphisms (SNPs whose heterozygosity > 0.2 in GCH1. Influence of the genetic variations including SNPs and haplotypes on pain sensitivity were analyzed. Results Minor allele frequencies and linkage disequilibrium show significant differences in European Americans, African Americans, Hispanic Americans and Asian Americans. Association analyses in European Americans do not replicate the previously reported important influence of GCH1 variations on pain sensitivity. Conclusion Considering population stratification, previously reported associations between GCH1 genetic variations and pain sensitivity appear weak or negligible in this well characterized model of pain.

  8. Evolution of the auditory ossicles in extant hominids: metric variation in African apes and humans

    Science.gov (United States)

    Quam, Rolf M; Coleman, Mark N; Martínez, Ignacio

    2014-01-01

    The auditory ossicles in primates have proven to be a reliable source of phylogenetic information. Nevertheless, to date, very little data have been published on the metric dimensions of the ear ossicles in African apes and humans. The present study relies on the largest samples of African ape ear ossicles studied to date to address questions of taxonomic differences and the evolutionary transformation of the ossicles in gorillas, chimpanzees and humans. Both African ape taxa show a malleus that is characterized by a long and slender manubrium and relatively short corpus, whereas humans show the opposite constellation of a short and thick manubrium and relatively long corpus. These changes in the manubrium are plausibly linked with changes in the size of the tympanic membrane. The main difference between the incus in African apes and humans seems to be related to changes in the functional length. Compared with chimpanzees, human incudes are larger in nearly all dimensions, except articular facet height, and show a more open angle between the axes. The gorilla incus resembles humans more closely in its metric dimensions, including functional length, perhaps as a result of the dramatically larger body size compared with chimpanzees. The differences between the stapedes of humans and African apes are primarily size-related, with humans being larger in nearly all dimensions. Nevertheless, some distinctions between the African apes were found in the obturator foramen and head height. Although correlations between metric variables in different ossicles were generally lower than those between variables in the same bone, variables of the malleus/incus complex appear to be more strongly correlated than those of the incus/stapes complex, perhaps reflecting the different embryological and evolutionary origins of the ossicles. The middle ear lever ratio for the African apes is similar to other haplorhines, but humans show the lowest lever ratio within primates. Very low levels

  9. Intrapopulational body size variation and cranial capacity variation in Middle Pleistocene humans: the Sima de los Huesos sample (Sierra de Atapuerca, Spain).

    Science.gov (United States)

    Lorenzo, C; Carretero, J M; Arsuaga, J L; Gracia, A; Martínez, I

    1998-05-01

    A sexual dimorphism more marked than in living humans has been claimed for European Middle Pleistocene humans, Neandertals and prehistoric modern humans. In this paper, body size and cranial capacity variation are studied in the Sima de los Huesos Middle Pleistocene sample. This is the largest sample of non-modern humans found to date from one single site, and with all skeletal elements represented. Since the techniques available to estimate the degree of sexual dimorphism in small palaeontological samples are all unsatisfactory, we have used the bootstraping method to asses the magnitude of the variation in the Sima de los Huesos sample compared to modern human intrapopulational variation. We analyze size variation without attempting to sex the specimens a priori. Anatomical regions investigated are scapular glenoid fossa; acetabulum; humeral proximal and distal epiphyses; ulnar proximal epiphysis; radial neck; proximal femur; humeral, femoral, ulnar and tibial shaft; lumbosacral joint; patella; calcaneum; and talar trochlea. In the Sima de los Huesos sample only the humeral midshaft perimeter shows an unusual high variation (only when it is expressed by the maximum ratio, not by the coefficient of variation). In spite of that the cranial capacity range at Sima de los Huesos almost spans the rest of the European and African Middle Pleistocene range. The maximum ratio is in the central part of the distribution of modern human samples. Thus, the hypothesis of a greater sexual dimorphism in Middle Pleistocene populations than in modern populations is not supported by either cranial or postcranial evidence from Sima de los Huesos.

  10. Systematic documentation and analysis of human genetic variation using the microattribution approach

    Science.gov (United States)

    Giardine, Belinda; Borg, Joseph; Higgs, Douglas R.; Peterson, Kenneth R.; Maglott, Donna; Basak, A. Nazli; Clark, Barnaby; Faustino, Paula; Felice, Alex E.; Francina, Alain; Gallivan, Monica V. E.; Georgitsi, Marianthi; Gibbons, Richard J.; Giordano, Piero C.; Harteveld, Cornelis L.; Joly, Philippe; Kanavakis, Emmanuel; Kollia, Panagoula; Menzel, Stephan; Miller, Webb; Moradkhani, Kamran; Old, John; Papachatzopoulou, Adamantia; Papadakis, Manoussos N.; Papadopoulos, Petros; Pavlovic, Sonja; Philipsen, Sjaak; Radmilovic, Milena; Riemer, Cathy; Schrijver, Iris; Stojiljkovic, Maja; Thein, Swee Lay; Traeger-Synodinos, Jan; Tully, Ray; Wada, Takahito; Waye, John; Wiemann, Claudia; Zukic, Branka; Chui, David H. K.; Wajcman, Henri; Hardison, Ross C.; Patrinos, George P.

    2013-01-01

    We developed a series of interrelated locus-specific databases to store all published and unpublished genetic variation related to these disorders, and then implemented microattribution to encourage submission of unpublished observations of genetic variation to these public repositories 1. A total of 1,941 unique genetic variants in 37 genes, encoding globins (HBA2, HBA1, HBG2, HBG1, HBD, HBB) and other erythroid proteins (ALOX5AP, AQP9, ARG2, ASS1, ATRX, BCL11A, CNTNAP2, CSNK2A1, EPAS1, ERCC2, FLT1, GATA1, GPM6B, HAO2, HBS1L, KDR, KL, KLF1, MAP2K1, MAP3K5, MAP3K7, MYB, NOS1, NOS2, NOS3, NOX3, NUP133, PDE7B, SMAD3, SMAD6, and TOX) are currently documented in these databases with reciprocal attribution of microcitations to data contributors. Our project provides the first example of implementing microattribution to incentivise submission of all known genetic variation in a defined system. It has demonstrably increased the reporting of human variants and now provides a comprehensive online resource for systematically describing human genetic variation in the globin genes and other genes contributing to hemoglobinopathies and thalassemias. The large repository of previously reported data, together with more recent data, acquired by microattribution, demonstrates how the comprehensive documentation of human variation will provide key insights into normal biological processes and how these are perturbed in human genetic disease. Using the microattribution process set out here, datasets which took decades to accumulate for the globin genes could be assembled rapidly for other genes and disease systems. The principles established here for the globin gene system will serve as a model for other systems and the analysis of other common and/or complex human genetic diseases. PMID:21423179

  11. Demographic and spatio-temporal variation in human plague at a persistent focus in Tanzania

    DEFF Research Database (Denmark)

    Davis, S; Makundi, R H; Machang'u, R S

    2006-01-01

    Human plague in the Western Usambara Mountains in Tanzania has been a public health problem since the first outbreak in 1980. The wildlife reservoir is unknown and eradication measures that have proved effective elsewhere in Tanzania appear to fail in this region. We use census data from 2002...... and hospital records kept since 1986 to describe the temporal, spatial and demographic variation in human plague. A seasonal peak in cases occurs from December to February with the numbers of cases during this peak varying between 0 and 1150. Variation in incidence, calculated for each village as the mean...... number of cases per thousand inhabitants per year, indicates that human plague is concentrated around a group of three neighbouring, relatively isolated, high-altitude villages; Nywelo, Madala and Gologolo. However, there was no evidence that these villages were acting as a source of infection...

  12. Genetic variation in lipid desaturases and its impact on the development of human disease.

    Science.gov (United States)

    Merino, Diana M; Ma, David W L; Mutch, David M

    2010-06-18

    Perturbations in lipid metabolism characterize many of the chronic diseases currently plaguing our society, such as obesity, diabetes, and cardiovascular disease. Thus interventions that target plasma lipid levels remain a primary goal to manage these diseases. The determinants of plasma lipid levels are multi-factorial, consisting of both genetic and lifestyle components. Recent evidence indicates that fatty acid desaturases have an important role in defining plasma and tissue lipid profiles. This review will highlight the current state-of-knowledge regarding three desaturases (Scd-1, Fads1 and Fads2) and their potential roles in disease onset and development. Although research in rodent models has provided invaluable insight into the regulation and functions of these desaturases, the extent to which murine research can be translated to humans remains unclear. Evidence emerging from human-based research demonstrates that genetic variation in human desaturase genes affects enzyme activity and, consequently, disease risk factors. Moreover, this genetic variation may have a trans-generational effect via breastfeeding. Therefore inter-individual variation in desaturase function is attributed to both genetic and lifestyle components. As such, population-based research regarding the role of desaturases on disease risk is challenged by this complex gene-lifestyle paradigm. Unravelling the contribution of each component is paramount for understanding the inter-individual variation that exists in plasma lipid profiles, and will provide crucial information to develop personalized strategies to improve health management.

  13. Meiotic gene-conversion rate and tract length variation in the human genome.

    Science.gov (United States)

    Padhukasahasram, Badri; Rannala, Bruce

    2013-02-27

    Meiotic recombination occurs in the form of two different mechanisms called crossing-over and gene-conversion and both processes have an important role in shaping genetic variation in populations. Although variation in crossing-over rates has been studied extensively using sperm-typing experiments, pedigree studies and population genetic approaches, our knowledge of variation in gene-conversion parameters (ie, rates and mean tract lengths) remains far from complete. To explore variability in population gene-conversion rates and its relationship to crossing-over rate variation patterns, we have developed and validated using coalescent simulations a comprehensive Bayesian full-likelihood method that can jointly infer crossing-over and gene-conversion rates as well as tract lengths from population genomic data under general variable rate models with recombination hotspots. Here, we apply this new method to SNP data from multiple human populations and attempt to characterize for the first time the fine-scale variation in gene-conversion parameters along the human genome. We find that the estimated ratio of gene-conversion to crossing-over rates varies considerably across genomic regions as well as between populations. However, there is a great degree of uncertainty associated with such estimates. We also find substantial evidence for variation in the mean conversion tract length. The estimated tract lengths did not show any negative relationship with the local heterozygosity levels in our analysis.European Journal of Human Genetics advance online publication, 27 February 2013; doi:10.1038/ejhg.2013.30.

  14. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature

    Directory of Open Access Journals (Sweden)

    Frackelton Edward C

    2010-06-01

    Full Text Available Abstract Background Human height is considered highly heritable and correlated with certain disorders, such as type 2 diabetes and cancer. Despite environmental influences, genetic factors are known to play an important role in stature determination. A number of genetic determinants of adult height have already been established through genome wide association studies. Methods To examine 51 single nucleotide polymorphisms (SNPs corresponding to the 46 previously reported genomic loci for height in 8,184 European American children with height measurements. We leveraged genotyping data from our ongoing GWA study of height variation in children in order to query the 51 SNPs in this pediatric cohort. Results Sixteen of these SNPs yielded at least nominally significant association to height, representing fifteen different loci including EFEMP1-PNPT1, GPR126, C6orf173, SPAG17, Histone class 1, HLA class III and GDF5-UQCC. Other loci revealed no evidence for association, including HMGA1 and HMGA2. For the 16 associated variants, the genotype score explained 1.64% of the total variation for height z-score. Conclusion Among 46 loci that have been reported to associate with adult height to date, at least 15 also contribute to the determination of height in childhood.

  15. The variation field of the radiosensitivity in the human population: hypersensitivity and hypo sensitivity

    International Nuclear Information System (INIS)

    Bouffler, S.

    2009-01-01

    It is generally admitted in the radiotherapy practice that 5% of patients will present serious reactions of normal tissues. Studies made on human population confirm it exists variations of cell radiosensitivity and genetic factors contribute in a significant manner to the observed variations. The researches of markers able to predict the reactions of normal tissues to the therapy focussed on the identification of sensitive sub-group. It is however obvious that exists also a part of the population relatively hypo sensitive. It would be interesting to make studies on the genome to find genes associated to serious reactions of normal tissues to radiotherapy. (N.C.)

  16. Variations in Humanized and Defined Culture Conditions Supporting Derivation of New Human Embryonic Stem Cell Lines

    DEFF Research Database (Denmark)

    Fletcher, Judy M; Ferrier, Patricia M; Gardner, John O

    2006-01-01

    matrix substrate of purified human laminin (Ln) with transitional reliance on mitotically inactivated human fibroblast (HDF) feeder cells. With this integrated system hESC lines were isolated using either HDF conditioned medium supplemented with a bovine-sourced serum replacement (bSRM), or a defined...

  17. Variation in calculated human exposure. Comparison of calculations with seven European human exposure models

    NARCIS (Netherlands)

    Swartjes F; ECO

    2003-01-01

    Twenty scenarios, differing with respect to land use, soil type and contaminant, formed the basis for calculating human exposure from soil contaminants with the use of models contributed by seven European countries (one model per country). Here, the human exposures to children and children

  18. Adult height, nutrition, and population health

    Science.gov (United States)

    Perkins, Jessica M.; Subramanian, S.V.; Davey Smith, George

    2016-01-01

    In this review, the potential causes and consequences of adult height, a measure of cumulative net nutrition, in modern populations are summarized. The mechanisms linking adult height and health are examined, with a focus on the role of potential confounders. Evidence across studies indicates that short adult height (reflecting growth retardation) in low- and middle-income countries is driven by environmental conditions, especially net nutrition during early years. Some of the associations of height with health and social outcomes potentially reflect the association between these environmental factors and such outcomes. These conditions are manifested in the substantial differences in adult height that exist between and within countries and over time. This review suggests that adult height is a useful marker of variation in cumulative net nutrition, biological deprivation, and standard of living between and within populations and should be routinely measured. Linkages between adult height and health, within and across generations, suggest that adult height may be a potential tool for monitoring health conditions and that programs focused on offspring outcomes may consider maternal height as a potentially important influence. PMID:26928678

  19. Human onchocerciasis in the Amazonian area of southern Venezuela: spatial and temporal variations in biting and parity rates of black fly (Diptera: Simuliidae) vectors.

    Science.gov (United States)

    Grillet, M E; Basáñez, M G; Vivas-Martínez, S; Villamizar, N; Frontado, H; Cortez, J; Coronel, P; Botto, C

    2001-07-01

    We investigated some entomological factors underlying altitudinal prevalence variation in the Venezuelan Amazonia human onchocerciasis focus. Spatial and temporal variation in relative abundance, daily biting rate, proportion of parous flies, and monthly parous biting rate were studied for the three main simuliid vectors (based on their vectorial competence: Simulium oyapockense s.l. Floch & Abonnenc approximately = S. incrustatum Lutz Yanomami villages were selected among sentinel communities of the ivermectin control program, representing hypo- to hyperendemicity conditions of infection. Spatial variation was explored via increasing village altitude on two river systems (A: Ocamo-Putaco and B: Orinoco-Orinoquito). Temporal variation was studied between 1995 and 1999 by sampling the biting population during dry and rainy mouths. Environmental variables included monthly rainfall and maximum river height. Simuliid species composition itself varied along the altitudinal and prevalence gradient. S. oyapockense s.l. prevailed below 150 m. Above this altitude and up to 240 m, S. incrustatum and S. guianense s.l. became more frequently and evenly collected along A but not along B, where S. incrustatum remained absent. The daily biting rate of S. oyapockense s.l. was higher during the dry season along A, whereas the converse took place along B. Daily biting rate of S. incrustatum was lowest during early rains. By contrast, the daily biting rate of S. guianense s.l. was highest during this period. There was a significant negative cross-correlation between proportion of parous of S. oyapockense s.l. and river height (2 and 3 mo lagged), whereas this variable (1 and 2 mo lagged) was positively correlated with the proportion of parous flies for S. incrustatum. Monthly parous biting rate values suggest that the months contributing most to onchocerciasis transmission in the area are likely to be the dry season and the transition periods between seasons.

  20. The offspring quantity–quality trade-off and human fertility variation

    Science.gov (United States)

    Lawson, David W.; Borgerhoff Mulder, Monique

    2016-01-01

    The idea that trade-offs between offspring quantity and quality shape reproductive behaviour has long been central to economic perspectives on fertility. It also has a parallel and richer theoretical foundation in evolutionary ecology. We review the application of the quantity–quality trade-off concept to human reproduction, emphasizing distinctions between clutch size and lifetime fertility, and the wider set of forces contributing to fertility variation in iteroparous and sexually reproducing species like our own. We then argue that in settings approximating human evolutionary history, several factors limit costly sibling competition. Consequently, while the optimization of quantity–quality trade-offs undoubtedly shaped the evolution of human physiology setting the upper limits of reproduction, we argue it plays a modest role in accounting for socio-ecological and individual variation in fertility. Only upon entering the demographic transition can fertility limitation be clearly interpreted as strategically orientated to advancing offspring quality via increased parental investment per child, with low fertility increasing descendant socio-economic success, although not reproductive success. We conclude that existing economic and evolutionary literature has often overemphasized the centrality of quantity–quality trade-offs to human fertility variation and advocate for the development of more holistic frameworks encompassing alternative life-history trade-offs and the evolved mechanisms guiding their resolution. PMID:27022072

  1. 14 CFR 29.1517 - Limiting height-speed envelope.

    Science.gov (United States)

    2010-01-01

    ... 14 Aeronautics and Space 1 2010-01-01 2010-01-01 false Limiting height-speed envelope. 29.1517... Operating Limitations § 29.1517 Limiting height-speed envelope. For Category A rotorcraft, if a range of... following power failure, the range of heights and its variation with forward speed must be established...

  2. Final height and intrauterine growth retardation.

    Science.gov (United States)

    Tauber, Maïthé

    2017-06-01

    Approximately 10% of small for gestational age (SGA) children maintain a small body size throughout childhood and often into adult life with a decreased pubertal spurt. Growth hormone (GH) therapy increases short-term growth in a dose-dependent manner and adult height had now been well documented. Shorter children might benefit from a higher dose at start (50μg/kg/day). The response to GH treatment was similar for both preterm and term short SGA groups and the effect of GH treatment on adult height showed a wide variation in growth response. As a whole, mean adult height is higher than -2 SDS in 60% of patients and 70% reached an adult height in their target height with better results with higher doses and combined GnRH analog therapy in those who were short at onset of puberty. Copyright © 2017. Published by Elsevier Masson SAS.

  3. Global effects of income and income inequality on adult height and sexual dimorphism in height.

    Science.gov (United States)

    Bogin, Barry; Scheffler, Christiane; Hermanussen, Michael

    2017-03-01

    Average adult height of a population is considered a biomarker of the quality of the health environment and economic conditions. The causal relationships between height and income inequality are not well understood. We analyze data from 169 countries for national average heights of men and women and national-level economic factors to test two hypotheses: (1) income inequality has a greater association with average adult height than does absolute income; and (2) neither income nor income inequality has an effect on sexual dimorphism in height. Average height data come from the NCD-RisC health risk factor collaboration. Economic indicators are derived from the World Bank data archive and include gross domestic product (GDP), Gross National Income per capita adjusted for personal purchasing power (GNI_PPP), and income equality assessed by the Gini coefficient calculated by the Wagstaff method. Hypothesis 1 is supported. Greater income equality is most predictive of average height for both sexes. GNI_PPP explains a significant, but smaller, amount of the variation. National GDP has no association with height. Hypothesis 2 is rejected. With greater average adult height there is greater sexual dimorphism. Findings support a growing literature on the pernicious effects of inequality on growth in height and, by extension, on health. Gradients in height reflect gradients in social disadvantage. Inequality should be considered a pollutant that disempowers people from the resources needed for their own healthy growth and development and for the health and good growth of their children. © 2017 Wiley Periodicals, Inc.

  4. Balancing selection on a regulatory region exhibiting ancient variation that predates human-neandertal divergence.

    Directory of Open Access Journals (Sweden)

    Omer Gokcumen

    2013-04-01

    Full Text Available Ancient population structure shaping contemporary genetic variation has been recently appreciated and has important implications regarding our understanding of the structure of modern human genomes. We identified a ∼36-kb DNA segment in the human genome that displays an ancient substructure. The variation at this locus exists primarily as two highly divergent haplogroups. One of these haplogroups (the NE1 haplogroup aligns with the Neandertal haplotype and contains a 4.6-kb deletion polymorphism in perfect linkage disequilibrium with 12 single nucleotide polymorphisms (SNPs across diverse populations. The other haplogroup, which does not contain the 4.6-kb deletion, aligns with the chimpanzee haplotype and is likely ancestral. Africans have higher overall pairwise differences with the Neandertal haplotype than Eurasians do for this NE1 locus (p<10⁻¹⁵. Moreover, the nucleotide diversity at this locus is higher in Eurasians than in Africans. These results mimic signatures of recent Neandertal admixture contributing to this locus. However, an in-depth assessment of the variation in this region across multiple populations reveals that African NE1 haplotypes, albeit rare, harbor more sequence variation than NE1 haplotypes found in Europeans, indicating an ancient African origin of this haplogroup and refuting recent Neandertal admixture. Population genetic analyses of the SNPs within each of these haplogroups, along with genome-wide comparisons revealed significant FST (p = 0.00003 and positive Tajima's D (p = 0.00285 statistics, pointing to non-neutral evolution of this locus. The NE1 locus harbors no protein-coding genes, but contains transcribed sequences as well as sequences with putative regulatory function based on bioinformatic predictions and in vitro experiments. We postulate that the variation observed at this locus predates Human-Neandertal divergence and is evolving under balancing selection, especially among European

  5. Genomic Features That Predict Allelic Imbalance in Humans Suggest Patterns of Constraint on Gene Expression Variation

    Science.gov (United States)

    Fédrigo, Olivier; Haygood, Ralph; Mukherjee, Sayan; Wray, Gregory A.

    2009-01-01

    Variation in gene expression is an important contributor to phenotypic diversity within and between species. Although this variation often has a genetic component, identification of the genetic variants driving this relationship remains challenging. In particular, measurements of gene expression usually do not reveal whether the genetic basis for any observed variation lies in cis or in trans to the gene, a distinction that has direct relevance to the physical location of the underlying genetic variant, and which may also impact its evolutionary trajectory. Allelic imbalance measurements identify cis-acting genetic effects by assaying the relative contribution of the two alleles of a cis-regulatory region to gene expression within individuals. Identification of patterns that predict commonly imbalanced genes could therefore serve as a useful tool and also shed light on the evolution of cis-regulatory variation itself. Here, we show that sequence motifs, polymorphism levels, and divergence levels around a gene can be used to predict commonly imbalanced genes in a human data set. Reduction of this feature set to four factors revealed that only one factor significantly differentiated between commonly imbalanced and nonimbalanced genes. We demonstrate that these results are consistent between the original data set and a second published data set in humans obtained using different technical and statistical methods. Finally, we show that variation in the single allelic imbalance-associated factor is partially explained by the density of genes in the region of a target gene (allelic imbalance is less probable for genes in gene-dense regions), and, to a lesser extent, the evenness of expression of the gene across tissues and the magnitude of negative selection on putative regulatory regions of the gene. These results suggest that the genomic distribution of functional cis-regulatory variants in the human genome is nonrandom, perhaps due to local differences in evolutionary

  6. Global and disease-associated genetic variation in the human Fanconi anemia gene family.

    Science.gov (United States)

    Rogers, Kai J; Fu, Wenqing; Akey, Joshua M; Monnat, Raymond J

    2014-12-20

    Fanconi anemia (FA) is a human recessive genetic disease resulting from inactivating mutations in any of 16 FANC (Fanconi) genes. Individuals with FA are at high risk of developmental abnormalities, early bone marrow failure and leukemia. These are followed in the second and subsequent decades by a very high risk of carcinomas of the head and neck and anogenital region, and a small continuing risk of leukemia. In order to characterize base pair-level disease-associated (DA) and population genetic variation in FANC genes and the segregation of this variation in the human population, we identified 2948 unique FANC gene variants including 493 FA DA variants across 57,240 potential base pair variation sites in the 16 FANC genes. We then analyzed the segregation of this variation in the 7578 subjects included in the Exome Sequencing Project (ESP) and the 1000 Genomes Project (1KGP). There was a remarkably high frequency of FA DA variants in ESP/1KGP subjects: at least 1 FA DA variant was identified in 78.5% (5950 of 7578) individuals included in these two studies. Six widely used functional prediction algorithms correctly identified only a third of the known, DA FANC missense variants. We also identified FA DA variants that may be good candidates for different types of mutation-specific therapies. Our results demonstrate the power of direct DNA sequencing to detect, estimate the frequency of and follow the segregation of deleterious genetic variation in human populations. © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  7. Comparison of organ doses in human phantoms: variations due to body size and posture

    International Nuclear Information System (INIS)

    Feng, Xu; Xiang-Hong, Jia; Xue-Jun, Yu; Zhan-Chun, Pan; Qian, Liu; Chun-Xin, Yang

    2017-01-01

    Organ dose calculations performed using human phantoms can provide estimates of astronauts' health risks due to cosmic radiation. However, the characteristics of such phantoms strongly affect the estimation precision. To investigate organ dose variations with body size and posture in human phantoms, a non-uniform rational B-spline boundary surfaces model was constructed based on cryo-section images. This model was used to establish four phantoms with different body size and posture parameters, whose organs parameters were changed simultaneously and which were voxelised with 4x4x4 mm"3 resolution. Then, using Monte Carlo transport code, the organ doses caused by ≤500 MeV isotropic incident protons were calculated. The dose variations due to body size differences within a certain range were negligible, and the doses received in crouching and standing-up postures were similar. Therefore, a standard Chinese phantom could be established, and posture changes cannot effectively protect astronauts during solar particle events. (authors)

  8. Transcriptome variations among human embryonic stem cell lines are associated with their differentiation propensity.

    Directory of Open Access Journals (Sweden)

    Changbin Sun

    Full Text Available Human embryonic stem cells (hESCs have the potential to form any cell type in the body, making them attractive cell sources in drug screening, regenerative medicine, disease and developmental processes modeling. However, not all hESC lines have the equal potency to generate desired cell types in vitro. Significant variations have been observed for the differentiation efficiency of various human ESC lines. The precise underpinning molecular mechanisms are still unclear. In this work, we compared transcriptome variations of four hESC lines H7, HUES1, HUES8 and HUES9. We found that hESC lines have different gene expression profiles, and these differentially expressed genes (DEGs are significantly enriched in developmental processes, such as ectodermal, mesodermal and endodermal development. The enrichment difference between hESC lines was consistent with its lineage bias. Among these DEGs, some pluripotency factors and genes involved in signaling transduction showed great variations as well. The pleiotropic functions of these genes in controlling hESC identity and early lineage specification, implicated that different hESC lines may utilize distinct balance mechanisms to maintain pluripotent state. When the balance is broken in a certain environment, gene expression variation between them could impact on their different lineage specification behavior.

  9. Brief communication: human cranial variation fits iterative founder effect model with African origin.

    Science.gov (United States)

    von Cramon-Taubadel, Noreen; Lycett, Stephen J

    2008-05-01

    Recent studies comparing craniometric and neutral genetic affinity matrices have concluded that, on average, human cranial variation fits a model of neutral expectation. While human craniometric and genetic data fit a model of isolation by geographic distance, it is not yet clear whether this is due to geographically mediated gene flow or human dispersal events. Recently, human genetic data have been shown to fit an iterative founder effect model of dispersal with an African origin, in line with the out-of-Africa replacement model for modern human origins, and Manica et al. (Nature 448 (2007) 346-349) have demonstrated that human craniometric data also fit this model. However, in contrast with the neutral model of cranial evolution suggested by previous studies, Manica et al. (2007) made the a priori assumption that cranial form has been subject to climatically driven natural selection and therefore correct for climate prior to conducting their analyses. Here we employ a modified theoretical and methodological approach to test whether human cranial variability fits the iterative founder effect model. In contrast with Manica et al. (2007) we employ size-adjusted craniometric variables, since climatic factors such as temperature have been shown to correlate with aspects of cranial size. Despite these differences, we obtain similar results to those of Manica et al. (2007), with up to 26% of global within-population craniometric variation being explained by geographic distance from sub-Saharan Africa. Comparative analyses using non-African origins do not yield significant results. The implications of these results are discussed in the light of the modern human origins debate. (c) 2007 Wiley-Liss, Inc.

  10. Genetic determination of human facial morphology: links between cleft-lips and normal variation.

    Science.gov (United States)

    Boehringer, Stefan; van der Lijn, Fedde; Liu, Fan; Günther, Manuel; Sinigerova, Stella; Nowak, Stefanie; Ludwig, Kerstin U; Herberz, Ruth; Klein, Stefan; Hofman, Albert; Uitterlinden, Andre G; Niessen, Wiro J; Breteler, Monique M B; van der Lugt, Aad; Würtz, Rolf P; Nöthen, Markus M; Horsthemke, Bernhard; Wieczorek, Dagmar; Mangold, Elisabeth; Kayser, Manfred

    2011-11-01

    Recent genome-wide association studies have identified single nucleotide polymorphisms (SNPs) associated with non-syndromic cleft lip with or without cleft palate (NSCL/P), and other previous studies showed distinctly differing facial distance measurements when comparing unaffected relatives of NSCL/P patients with normal controls. Here, we test the hypothesis that genetic loci involved in NSCL/P also influence normal variation in facial morphology. We tested 11 SNPs from 10 genomic regions previously showing replicated evidence of association with NSCL/P for association with normal variation of nose width and bizygomatic distance in two cohorts from Germany (N=529) and the Netherlands (N=2497). The two most significant associations found were between nose width and SNP rs1258763 near the GREM1 gene in the German cohort (P=6 × 10(-4)), and between bizygomatic distance and SNP rs987525 at 8q24.21 near the CCDC26 gene (P=0.017) in the Dutch sample. A genetic prediction model explained 2% of phenotype variation in nose width in the German and 0.5% of bizygomatic distance variation in the Dutch cohort. Although preliminary, our data provide a first link between genetic loci involved in a pathological facial trait such as NSCL/P and variation of normal facial morphology. Moreover, we present a first approach for understanding the genetic basis of human facial appearance, a highly intriguing trait with implications on clinical practice, clinical genetics, forensic intelligence, social interactions and personal identity.

  11. Understanding variation in human fertility: what can we learn from evolutionary demography?

    Science.gov (United States)

    Sear, Rebecca; Lawson, David W; Kaplan, Hillard; Shenk, Mary K

    2016-04-19

    Decades of research on human fertility has presented a clear picture of how fertility varies, including its dramatic decline over the last two centuries in most parts of the world. Why fertility varies, both between and within populations, is not nearly so well understood. Fertility is a complex phenomenon, partly physiologically and partly behaviourally determined, thus an interdisciplinary approach is required to understand it. Evolutionary demographers have focused on human fertility since the 1980s. The first wave of evolutionary demographic research made major theoretical and empirical advances, investigating variation in fertility primarily in terms of fitness maximization. Research focused particularly on variation within high-fertility populations and small-scale subsistence societies and also yielded a number of hypotheses for why fitness maximization seems to break down as fertility declines during the demographic transition. A second wave of evolutionary demography research on fertility is now underway, paying much more attention to the cultural and psychological mechanisms underpinning fertility. It is also engaging with the complex, multi-causal nature of fertility variation, and with understanding fertility in complex modern and transitioning societies. Here, we summarize the history of evolutionary demographic work on human fertility, describe the current state of the field, and suggest future directions. © 2016 The Author(s).

  12. NDVI-Based analysis on the influence of human activities on vegetation variation on Hainan Island

    Science.gov (United States)

    Luo, Hongxia; Dai, Shengpei; Xie, Zhenghui; Fang, Jihua

    2018-02-01

    Using the Moderate Resolution Imaging Spectroradiometer-normalized difference vegetation index (NDVI) dataset, we analyzed the predicted NDVI values variation and the influence of human activities on vegetation on Hainan Island during 2001-2015. We investigated the roles of human activities in vegetation variation, particularly from 2002 when implemented the Grain-for-Greenprogram on Hainan Island. The trend analysis, linear regression model and residual analysis were used to analyze the data. The results of the study showed that (1) The predicted vegetation on Hainan Island showed an general upward trend with a linear growth rate of 0.0025/10y (phuman activities. (3) In general, human activities had played a positive role in the vegetation increase on Hainan Island, and the residual NDVI trend of this region showed positive outcomes for vegetation variation after implementing ecological engineering projects. However, it indicated a growing risk of vegetation degradation in the coastal region of Hainan Island as a result of rapid urbanization, land reclamation.

  13. Analysis of temporal variation in human masticatory cycles during gum chewing.

    Science.gov (United States)

    Crane, Elizabeth A; Rothman, Edward D; Childers, David; Gerstner, Geoffrey E

    2013-10-01

    The study investigated modulation of fast and slow opening (FO, SO) and closing (FC, SC) chewing cycle phases using gum-chewing sequences in humans. Twenty-two healthy adult subjects participated by chewing gum for at least 20s on the right side and at least 20s on the left side while jaw movements were tracked with a 3D motion analysis system. Jaw movement data were digitized, and chewing cycle phases were identified and analysed for all chewing cycles in a complete sequence. All four chewing cycle phase durations were more variant than total cycle durations, a result found in other non-human primates. Significant negative correlations existed between the opening phases, SO and FO, and between the closing phases, SC and FC; however, there was less consistency in terms of which phases were negatively correlated both between subjects, and between chewing sides within subjects, compared with results reported in other species. The coordination of intra-cycle phases appears to be flexible and to follow complex rules during gum-chewing in humans. Alternatively, the observed intra-cycle phase relationships could simply reflect: (1) variation in jaw kinematics due to variation in how gum was handled by the tongue on a chew-by-chew basis in our experimental design or (2) by variation due to data sampling noise and/or how phases were defined and identified. Copyright © 2013 Elsevier Ltd. All rights reserved.

  14. Comparison of inter- and intraspecies variation in humans and fruit flies

    Directory of Open Access Journals (Sweden)

    Juliann Shih

    2015-03-01

    Full Text Available Variation is essential to species survival and adaptation during evolution. This variation is conferred by the imperfection of biochemical processes, such as mutations and alterations in DNA sequences, and can also be seen within genomes through processes such as the generation of antibodies. Recent sequencing projects have produced multiple versions of the genomes of humans and fruit flies (Drosophila melanogaster. These give us a chance to study how individual gene sequences vary within and between species. Here we arranged human and fly genes in orthologous pairs and compared such within-species variability with their degree of conservation between flies and humans. We observed that a significant number of proteins associated with mRNA translation are highly conserved between species and yet are highly variable within each species. The fact that we observe this in two species whose lineages separated more than 700 million years ago suggests that this is the result of a very ancient process. We hypothesize that this effect might be attributed to a positive selection for variability of virus-interacting proteins that confers a general resistance to viral hijacking of the mRNA translation machinery within populations. Our analysis points to this and to other processes resulting in positive selection for gene variation.

  15. Evidence for genetic variation in human mate preferences for sexually dimorphic physical traits.

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    Karin J H Verweij

    Full Text Available Intersexual selection has been proposed as an important force in shaping a number of morphological traits that differ between human populations and/or between the sexes. Important to these accounts is the source of mate preferences for such traits, but this has not been investigated. In a large sample of twins, we assess forced-choice, dichotomous mate preferences for height, skin colour, hair colour and length, chest hair, facial hair, and breast size. Across the traits, identical twins reported more similar preferences than nonidentical twins, suggesting genetic effects. However, the relative magnitude of estimated genetic and environmental effects differed greatly and significantly between different trait preferences, with heritability estimates ranging from zero to 57%.

  16. Population genetic inference from personal genome data: impact of ancestry and admixture on human genomic variation.

    Science.gov (United States)

    Kidd, Jeffrey M; Gravel, Simon; Byrnes, Jake; Moreno-Estrada, Andres; Musharoff, Shaila; Bryc, Katarzyna; Degenhardt, Jeremiah D; Brisbin, Abra; Sheth, Vrunda; Chen, Rong; McLaughlin, Stephen F; Peckham, Heather E; Omberg, Larsson; Bormann Chung, Christina A; Stanley, Sarah; Pearlstein, Kevin; Levandowsky, Elizabeth; Acevedo-Acevedo, Suehelay; Auton, Adam; Keinan, Alon; Acuña-Alonzo, Victor; Barquera-Lozano, Rodrigo; Canizales-Quinteros, Samuel; Eng, Celeste; Burchard, Esteban G; Russell, Archie; Reynolds, Andy; Clark, Andrew G; Reese, Martin G; Lincoln, Stephen E; Butte, Atul J; De La Vega, Francisco M; Bustamante, Carlos D

    2012-10-05

    Full sequencing of individual human genomes has greatly expanded our understanding of human genetic variation and population history. Here, we present a systematic analysis of 50 human genomes from 11 diverse global populations sequenced at high coverage. Our sample includes 12 individuals who have admixed ancestry and who have varying degrees of recent (within the last 500 years) African, Native American, and European ancestry. We found over 21 million single-nucleotide variants that contribute to a 1.75-fold range in nucleotide heterozygosity across diverse human genomes. This heterozygosity ranged from a high of one heterozygous site per kilobase in west African genomes to a low of 0.57 heterozygous sites per kilobase in segments inferred to have diploid Native American ancestry from the genomes of Mexican and Puerto Rican individuals. We show evidence of all three continental ancestries in the genomes of Mexican, Puerto Rican, and African American populations, and the genome-wide statistics are highly consistent across individuals from a population once ancestry proportions have been accounted for. Using a generalized linear model, we identified subtle variations across populations in the proportion of neutral versus deleterious variation and found that genome-wide statistics vary in admixed populations even once ancestry proportions have been factored in. We further infer that multiple periods of gene flow shaped the diversity of admixed populations in the Americas-70% of the European ancestry in today's African Americans dates back to European gene flow happening only 7-8 generations ago. Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  17. Inter-chromosomal variation in the pattern of human population genetic structure

    Directory of Open Access Journals (Sweden)

    Baye Tesfaye M

    2011-05-01

    Full Text Available Abstract Emerging technologies now make it possible to genotype hundreds of thousands of genetic variations in individuals, across the genome. The study of loci at finer scales will facilitate the understanding of genetic variation at genomic and geographic levels. We examined global and chromosomal variations across HapMap populations using 3.7 million single nucleotide polymorphisms to search for the most stratified genomic regions of human populations and linked these regions to ontological annotation and functional network analysis. To achieve this, we used five complementary statistical and genetic network procedures: principal component (PC, cluster, discriminant, fixation index (FST and network/pathway analyses. At the global level, the first two PC scores were sufficient to account for major population structure; however, chromosomal level analysis detected subtle forms of population structure within continental populations, and as many as 31 PCs were required to classify individuals into homogeneous groups. Using recommended population ancestry differentiation measures, a total of 126 regions of the genome were catalogued. Gene ontology and networks analyses revealed that these regions included the genes encoding oculocutaneous albinism II (OCA2, hect domain and RLD 2 (HERC2, ectodysplasin A receptor (EDAR and solute carrier family 45, member 2 (SLC45A2. These genes are associated with melanin production, which is involved in the development of skin and hair colour, skin cancer and eye pigmentation. We also identified the genes encoding interferon-γ (IFNG and death-associated protein kinase 1 (DAPK1, which are associated with cell death, inflammatory and immunological diseases. An in-depth understanding of these genomic regions may help to explain variations in adaptation to different environments. Our approach offers a comprehensive strategy for analysing chromosome-based population structure and differentiation, and demonstrates the

  18. Topographic variation in redifferentiation capacity of chondrocytes in the adult human knee joint.

    Science.gov (United States)

    Stenhamre, H; Slynarski, K; Petrén, C; Tallheden, T; Lindahl, A

    2008-11-01

    The aim of this study was to investigate the topographic variation in matrix production and cell density in the adult human knee joint. Additionally, we have examined the redifferentiation potential of chondrocytes expanded in vitro from the different locations. Full thickness cartilage-bone biopsies were harvested from seven separate anatomical locations of healthy knee joints from deceased adult human donors. Chondrocytes were isolated, expanded in vitro and redifferentiated in a pellet mass culture. Biochemical analysis of total collagen, proteoglycans and cellular content as well as histology and immunohistochemistry were performed on biopsies and pellets. In the biochemical analysis of the biopsies, we found lower proteoglycan to collagen (GAG/HP) ratio in the non-weight bearing (NWB) areas compared to the weight bearing (WB) areas. The chondrocytes harvested from different locations in femur showed a significantly better attachment and proliferation ability as well as good post-expansion chondrogenic capacity in pellet mass culture compared with the cells harvested from tibia. These results demonstrate that there are differences in extra cellular content within the adult human knee in respect to GAG/HP ratio. Additionally, the data show that clear differences between chondrocytes harvested from femur and tibia from healthy human knee joints exist and that the differences are not completely abolished during the process of de- and redifferentiation. These findings emphasize the importance of the understanding of topographic variation in articular cartilage biology when approaching new cartilage repair strategies.

  19. PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans.

    Science.gov (United States)

    Berg, Ingrid L; Neumann, Rita; Lam, Kwan-Wood G; Sarbajna, Shriparna; Odenthal-Hesse, Linda; May, Celia A; Jeffreys, Alec J

    2010-10-01

    PRDM9 has recently been identified as a likely trans regulator of meiotic recombination hot spots in humans and mice. PRDM9 contains a zinc finger array that, in humans, can recognize a short sequence motif associated with hot spots, with binding to this motif possibly triggering hot-spot activity via chromatin remodeling. We now report that human genetic variation at the PRDM9 locus has a strong effect on sperm hot-spot activity, even at hot spots lacking the sequence motif. Subtle changes within the zinc finger array can create hot-spot nonactivating or enhancing variants and can even trigger the appearance of a new hot spot, suggesting that PRDM9 is a major global regulator of hot spots in humans. Variation at the PRDM9 locus also influences aspects of genome instability-specifically, a megabase-scale rearrangement underlying two genomic disorders as well as minisatellite instability-implicating PRDM9 as a risk factor for some pathological genome rearrangements.

  20. Natural selection affects multiple aspects of genetic variation at putatively peutral sites across the human genome

    DEFF Research Database (Denmark)

    Lohmueller, Kirk E; Albrechtsen, Anders; Li, Yingrui

    2011-01-01

    A major question in evolutionary biology is how natural selection has shaped patterns of genetic variation across the human genome. Previous work has documented a reduction in genetic diversity in regions of the genome with low recombination rates. However, it is unclear whether other summaries...... these questions by analyzing three different genome-wide resequencing datasets from European individuals. We document several significant correlations between different genomic features. In particular, we find that average minor allele frequency and diversity are reduced in regions of low recombination...... and that human diversity, human-chimp divergence, and average minor allele frequency are reduced near genes. Population genetic simulations show that either positive natural selection acting on favorable mutations or negative natural selection acting against deleterious mutations can explain these correlations...

  1. Mutation Rate Variation is a Primary Determinant of the Distribution of Allele Frequencies in Humans.

    Directory of Open Access Journals (Sweden)

    Arbel Harpak

    2016-12-01

    Full Text Available The site frequency spectrum (SFS has long been used to study demographic history and natural selection. Here, we extend this summary by examining the SFS conditional on the alleles found at the same site in other species. We refer to this extension as the "phylogenetically-conditioned SFS" or cSFS. Using recent large-sample data from the Exome Aggregation Consortium (ExAC, combined with primate genome sequences, we find that human variants that occurred independently in closely related primate lineages are at higher frequencies in humans than variants with parallel substitutions in more distant primates. We show that this effect is largely due to sites with elevated mutation rates causing significant departures from the widely-used infinite sites mutation model. Our analysis also suggests substantial variation in mutation rates even among mutations involving the same nucleotide changes. In summary, we show that variable mutation rates are key determinants of the SFS in humans.

  2. Natural selection affects multiple aspects of genetic variation at putatively neutral sites across the human genome.

    Science.gov (United States)

    Lohmueller, Kirk E; Albrechtsen, Anders; Li, Yingrui; Kim, Su Yeon; Korneliussen, Thorfinn; Vinckenbosch, Nicolas; Tian, Geng; Huerta-Sanchez, Emilia; Feder, Alison F; Grarup, Niels; Jørgensen, Torben; Jiang, Tao; Witte, Daniel R; Sandbæk, Annelli; Hellmann, Ines; Lauritzen, Torsten; Hansen, Torben; Pedersen, Oluf; Wang, Jun; Nielsen, Rasmus

    2011-10-01

    A major question in evolutionary biology is how natural selection has shaped patterns of genetic variation across the human genome. Previous work has documented a reduction in genetic diversity in regions of the genome with low recombination rates. However, it is unclear whether other summaries of genetic variation, like allele frequencies, are also correlated with recombination rate and whether these correlations can be explained solely by negative selection against deleterious mutations or whether positive selection acting on favorable alleles is also required. Here we attempt to address these questions by analyzing three different genome-wide resequencing datasets from European individuals. We document several significant correlations between different genomic features. In particular, we find that average minor allele frequency and diversity are reduced in regions of low recombination and that human diversity, human-chimp divergence, and average minor allele frequency are reduced near genes. Population genetic simulations show that either positive natural selection acting on favorable mutations or negative natural selection acting against deleterious mutations can explain these correlations. However, models with strong positive selection on nonsynonymous mutations and little negative selection predict a stronger negative correlation between neutral diversity and nonsynonymous divergence than observed in the actual data, supporting the importance of negative, rather than positive, selection throughout the genome. Further, we show that the widespread presence of weakly deleterious alleles, rather than a small number of strongly positively selected mutations, is responsible for the correlation between neutral genetic diversity and recombination rate. This work suggests that natural selection has affected multiple aspects of linked neutral variation throughout the human genome and that positive selection is not required to explain these observations.

  3. Geography, Ethnicity or Subsistence-Specific Variations in Human Microbiome Composition and Diversity

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    Vinod K. Gupta

    2017-06-01

    Full Text Available One of the fundamental issues in the microbiome research is characterization of the healthy human microbiota. Recent studies have elucidated substantial divergences in the microbiome structure between healthy individuals from different race and ethnicity. This review provides a comprehensive account of such geography, ethnicity or life-style-specific variations in healthy microbiome at five major body habitats—Gut, Oral-cavity, Respiratory Tract, Skin, and Urogenital Tract (UGT. The review focuses on the general trend in the human microbiome evolution—a gradual transition in the gross compositional structure along with a continual decrease in diversity of the microbiome, especially of the gut microbiome, as the human populations passed through three stages of subsistence like foraging, rural farming and industrialized urban western life. In general, gut microbiome of the hunter-gatherer populations is highly abundant with Prevotella, Proteobacteria, Spirochaetes, Clostridiales, Ruminobacter etc., while those of the urban communities are often enriched in Bacteroides, Bifidobacterium, and Firmicutes. The oral and skin microbiome are the next most diverse among different populations, while respiratory tract and UGT microbiome show lesser variations. Higher microbiome diversity is observed for oral-cavity in hunter-gatherer group with higher prevalence of Haemophilus than agricultural group. In case of skin microbiome, rural and urban Chinese populations show variation in abundance of Trabulsiella and Propionibacterium. On the basis of published data, we have characterized the core microbiota—the set of genera commonly found in all populations, irrespective of their geographic locations, ethnicity or mode of subsistence. We have also identified the major factors responsible for geography-based alterations in microbiota; though it is not yet clear which factor plays a dominant role in shaping the microbiome—nature or nurture, host genetics

  4. Landscape and variation of RNA secondary structure across the human transcriptome.

    Science.gov (United States)

    Wan, Yue; Qu, Kun; Zhang, Qiangfeng Cliff; Flynn, Ryan A; Manor, Ohad; Ouyang, Zhengqing; Zhang, Jiajing; Spitale, Robert C; Snyder, Michael P; Segal, Eran; Chang, Howard Y

    2014-01-30

    In parallel to the genetic code for protein synthesis, a second layer of information is embedded in all RNA transcripts in the form of RNA structure. RNA structure influences practically every step in the gene expression program. However, the nature of most RNA structures or effects of sequence variation on structure are not known. Here we report the initial landscape and variation of RNA secondary structures (RSSs) in a human family trio (mother, father and their child). This provides a comprehensive RSS map of human coding and non-coding RNAs. We identify unique RSS signatures that demarcate open reading frames and splicing junctions, and define authentic microRNA-binding sites. Comparison of native deproteinized RNA isolated from cells versus refolded purified RNA suggests that the majority of the RSS information is encoded within RNA sequence. Over 1,900 transcribed single nucleotide variants (approximately 15% of all transcribed single nucleotide variants) alter local RNA structure. We discover simple sequence and spacing rules that determine the ability of point mutations to impact RSSs. Selective depletion of 'riboSNitches' versus structurally synonymous variants at precise locations suggests selection for specific RNA shapes at thousands of sites, including 3' untranslated regions, binding sites of microRNAs and RNA-binding proteins genome-wide. These results highlight the potentially broad contribution of RNA structure and its variation to gene regulation.

  5. Effect of speech-intrinsic variations on human and automatic recognition of spoken phonemes.

    Science.gov (United States)

    Meyer, Bernd T; Brand, Thomas; Kollmeier, Birger

    2011-01-01

    The aim of this study is to quantify the gap between the recognition performance of human listeners and an automatic speech recognition (ASR) system with special focus on intrinsic variations of speech, such as speaking rate and effort, altered pitch, and the presence of dialect and accent. Second, it is investigated if the most common ASR features contain all information required to recognize speech in noisy environments by using resynthesized ASR features in listening experiments. For the phoneme recognition task, the ASR system achieved the human performance level only when the signal-to-noise ratio (SNR) was increased by 15 dB, which is an estimate for the human-machine gap in terms of the SNR. The major part of this gap is attributed to the feature extraction stage, since human listeners achieve comparable recognition scores when the SNR difference between unaltered and resynthesized utterances is 10 dB. Intrinsic variabilities result in strong increases of error rates, both in human speech recognition (HSR) and ASR (with a relative increase of up to 120%). An analysis of phoneme duration and recognition rates indicates that human listeners are better able to identify temporal cues than the machine at low SNRs, which suggests incorporating information about the temporal dynamics of speech into ASR systems.

  6. Social inequalities in height: persisting differences today depend upon height of the parents.

    Directory of Open Access Journals (Sweden)

    Bruna Galobardes

    Full Text Available Substantial increases in height have occurred concurrently with economic development in most populations during the last century. In high-income countries, environmental exposures that can limit genetic growth potential appear to have lessened, and variation in height by socioeconomic position may have diminished. The objective of this study is to investigate inequalities in height in a cohort of children born in the early 1990s in England, and to evaluate which factors might explain any identified inequalities.12,830 children from The Avon Longitudinal Study of Parents and Children (ALSPAC, a population based cohort from birth to about 11.5 years of age, were used in this analysis. Gender- and age-specific z-scores of height at different ages were used as outcome variables. Multilevel models were used to take into account the repeated measures of height and to analyze gender- and age-specific relative changes in height from birth to 11.5 years. Maternal education was the main exposure variable used to examine socioeconomic inequalities. The roles of parental and family characteristics in explaining any observed differences between maternal education and child height were investigated. Children whose mothers had the highest education compared to those with none or a basic level of education, were 0.39 cm longer at birth (95% CI: 0.30 to 0.48. These differences persisted and at 11.5 years the height difference was 1.4 cm (95% CI: 1.07 to 1.74. Several other factors were related to offspring height, but few changed the relationship with maternal education. The one exception was mid-parental height, which fully accounted for the maternal educational differences in offspring height.In a cohort of children born in the 1990s, mothers with higher education gave birth to taller boys and girls. Although height differences were small they persisted throughout childhood. Maternal and paternal height fully explained these differences.

  7. Evaluating variation in human gut microbiota profiles due to DNA extraction method and inter-subject differences.

    Science.gov (United States)

    Wagner Mackenzie, Brett; Waite, David W; Taylor, Michael W

    2015-01-01

    The human gut contains dense and diverse microbial communities which have profound influences on human health. Gaining meaningful insights into these communities requires provision of high quality microbial nucleic acids from human fecal samples, as well as an understanding of the sources of variation and their impacts on the experimental model. We present here a systematic analysis of commonly used microbial DNA extraction methods, and identify significant sources of variation. Five extraction methods (Human Microbiome Project protocol, MoBio PowerSoil DNA Isolation Kit, QIAamp DNA Stool Mini Kit, ZR Fecal DNA MiniPrep, phenol:chloroform-based DNA isolation) were evaluated based on the following criteria: DNA yield, quality and integrity, and microbial community structure based on Illumina amplicon sequencing of the V4 region of bacterial and archaeal 16S rRNA genes. Our results indicate that the largest portion of variation within the model was attributed to differences between subjects (biological variation), with a smaller proportion of variation associated with DNA extraction method (technical variation) and intra-subject variation. A comprehensive understanding of the potential impact of technical variation on the human gut microbiota will help limit preventable bias, enabling more accurate diversity estimates.

  8. Evaluating variation in human gut microbiota profiles due to DNA extraction method and inter-subject differences

    Directory of Open Access Journals (Sweden)

    Brett eWagner Mackenzie

    2015-02-01

    Full Text Available The human gut contains dense and diverse microbial communities which have profound influences on human health. Gaining meaningful insights into these communities requires provision of high quality microbial nucleic acids from human fecal samples, as well as an understanding of the sources of variation and their impacts on the experimental model. We present here a systematic analysis of commonly used microbial DNA extraction methods, and identify significant sources of variation. Five extraction methods (Human Microbiome Project protocol, MoBio PowerSoil DNA Isolation Kit, QIAamp DNA Stool Mini Kit, ZR Fecal DNA MiniPrep, phenol:chloroform-based DNA isolation were evaluated based on the following criteria: DNA yield, quality and integrity, and microbial community structure based on Illumina amplicon sequencing of the V4 region of bacterial and archaeal 16S rRNA genes. Our results indicate that the largest portion of variation within the model was attributed to differences between subjects (biological variation, with a smaller proportion of variation associated with DNA extraction method (technical variation and intra-subject variation. A comprehensive understanding of the potential impact of technical variation on the human gut microbiota will help limit preventable bias, enabling more accurate diversity estimates.

  9. Simultaneous inference of selection and population growth from patterns of variation in the human genome

    DEFF Research Database (Denmark)

    Williamson, Scott H.; Hernandez, Ryan; Fledel-Alon, Adi

    2005-01-01

    Natural selection and demographic forces can have similar effects on patterns of DNA polymorphism. Therefore, to infer selection from samples of DNA sequences, one must simultaneously account for demographic effects. Here we take a model-based approach to this problem by developing predictions fo......-specific methods, and (iii) strong evidence for very recent population growth....... for patterns of polymorphism in the presence of both population size change and natural selection. If data are available from different functional classes of variation, and a priori information suggests that mutations in one of those classes are selectively neutral, then the putatively neutral class can...... this method to a large polymorphism data set from 301 human genes and find (i) widespread negative selection acting on standing nonsynonymous variation, (ii) that the fitness effects of nonsynonymous mutations are well predicted by several measures of amino acid exchangeability, especially site...

  10. Severity of infection and seasonal variation of non-typhoid Salmonelle occurence in humans

    DEFF Research Database (Denmark)

    Gradel, K.O.; Dethlefsen, Claus; Schønheyder, H.C.

    2007-01-01

    Non-typhoid Salmonella infections may present as severe gastroenteritis necessitatinghospitalization and some patients become septic with bacteraemia. We hypothesized that theseasonal variation of non-typhoid Salmonella occurrence in humans diminishes with increasedseverity of infection. We...... examined the seasonal variation of non-typhoid Salmonella infections inthree patient groups with differing severity of infection: outpatients treated for gastroenteritis(n=1490); in-patients treated for gastroenteritis (n=492); and in-patients treated for bacteraemia(n=113). The study was population......-based and included all non-typhoid Salmonella patients ina Danish county from 1994 to 2003. A periodic regression model was used to compute thepeak-to-trough ratio for the three patient groups. The peak-to-trough ratios were 4·3 [95%confidence interval (CI) 3·6–5.0] for outpatients with gastroenteritis, 3·2 (95% CI...

  11. Genetics in endocrinology: genetic variation in deiodinases: a systematic review of potential clinical effects in humans.

    Science.gov (United States)

    Verloop, Herman; Dekkers, Olaf M; Peeters, Robin P; Schoones, Jan W; Smit, Johannes W A

    2014-09-01

    Iodothyronine deiodinases represent a family of selenoproteins involved in peripheral and local homeostasis of thyroid hormone action. Deiodinases are expressed in multiple organs and thyroid hormone affects numerous biological systems, thus genetic variation in deiodinases may affect multiple clinical endpoints. Interest in clinical effects of genetic variation in deiodinases has clearly increased. We aimed to provide an overview for the role of deiodinase polymorphisms in human physiology and morbidity. In this systematic review, studies evaluating the relationship between deiodinase polymorphisms and clinical parameters in humans were eligible. No restrictions on publication date were imposed. The following databases were searched up to August 2013: Pubmed, EMBASE (OVID-version), Web of Science, COCHRANE Library, CINAHL (EbscoHOST-version), Academic Search Premier (EbscoHOST-version), and ScienceDirect. Deiodinase physiology at molecular and tissue level is described, and finally the role of these polymorphisms in pathophysiological conditions is reviewed. Deiodinase type 1 (D1) polymorphisms particularly show moderate-to-strong relationships with thyroid hormone parameters, IGF1 production, and risk for depression. D2 variants correlate with thyroid hormone levels, insulin resistance, bipolar mood disorder, psychological well-being, mental retardation, hypertension, and risk for osteoarthritis. D3 polymorphisms showed no relationship with inter-individual variation in serum thyroid hormone parameters. One D3 polymorphism was associated with risk for osteoarthritis. Genetic deiodinase profiles only explain a small proportion of inter-individual variations in serum thyroid hormone levels. Evidence suggests a role of genetic deiodinase variants in certain pathophysiological conditions. The value for determination of deiodinase polymorphism in clinical practice needs further investigation. © 2014 European Society of Endocrinology.

  12. Microgeographic variation in locomotor traits among lizards in a human-built environment

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    Colin Donihue

    2016-03-01

    Full Text Available Microgeographic variation in fitness-relevant traits may be more common than previously appreciated. The fitness of many vertebrates is directly related to their locomotor capacity, a whole-organism trait integrating behavior, morphology, and physiology. Because locomotion is inextricably related to context, I hypothesized that it might vary with habitat structure in a wide-ranging lizard, Podarcis erhardii, found in the Greek Cyclade Islands. I compared lizard populations living on human-built rock walls, a novel habitat with complex vertical structure, with nearby lizard populations that are naive to human-built infrastructure and live in flat, loose-substrate habitat. I tested for differences in morphology, behavior, and performance. Lizards from built sites were larger and had significantly (and relatively longer forelimbs and hindlimbs. The differences in hindlimb morphology were especially pronounced for distal components—the foot and longest toe. These morphologies facilitated a significant behavioral shift in jumping propensity across a rocky experimental substrate. I found no difference in maximum velocity between these populations; however, females originating from wall sites potentially accelerated faster over the rocky experimental substrate. The variation between these closely neighboring populations suggests that the lizards inhabiting walls have experienced a suite of trait changes enabling them to take advantage of the novel habitat structure created by humans.

  13. Height perception influenced by texture gradient.

    Science.gov (United States)

    Tozawa, Junko

    2012-01-01

    Three experiments were carried out to examine whether a texture gradient influences perception of relative object height. Previous research implicated texture cues in judgments of object width, but similar influences have not been demonstrated for relative height. In this study, I evaluate a hypothesis that the projective ratio of the number of texture elements covered by the objects combined with the ratio of the retinal object heights determines percepts of relative object height. Density of texture background was varied: four density conditions ranged from no-texture to very dense texture. In experiments 1 and 2, participants judged the height of comparison bar compared to the standard bar positioned on no-texture or textured backgrounds. Results showed relative height judgments differed with texture manipulations, consistent with predictions from a hypothesised combination of the number of texture elements with retinal height (experiment 1), or partially consistent with this hypothesis (experiment 2). In experiment 2, variations in the position of a comparison object showed that comparisons located far from the horizon were judged more poorly than in other positions. In experiment 3 I examined distance perception; relative distance judgments were found to be also affected by textured backgrounds. Results are discussed in terms of Gibson's relational theory and distance calibration theory.

  14. Premolar root and canal variation in extant non-human hominoidea.

    Science.gov (United States)

    Moore, N Collin; Hublin, Jean-Jacques; Skinner, Matthew M

    2015-08-11

    The premolar sub-cervical region in four non-human extant ape genera are examined to: 1) define a classification scheme for the premolar root system in order to rigorously characterize, quantify and document variation in root and canal, form, number and configuration; 2) compare this variation within and between genera; and 3) test the hypotheses that sex and size (i.e., the "size/number continuum," Shields, ) of the premolar are determinants of root/canal form and/or number. Microtomography and 3D visualization software are utilized to examine a large sample of Hylobates, Pan, Gorilla, and Pongo (n = 951 teeth). Each premolar root system is examined to ascertain the expected level of variability for each taxon. Cervical surface area (mm 2 ) serves as a metric proxy for tooth size. A Chi-square test of independence is used to assess for variability differences between and within each taxon, and Mann-Whitney U tests are employed to assess the predicted relationship between tooth size and variation within each taxon. Our findings indicate that root and canal configurations, non-metric root traits and tooth size can distinguish between extant ape genera. Within the four ape taxa, premolar size variation is generally, but not always, correlated with canal/root number. Our results indicate that males and females within genera differ in tooth size but not in canal/root form and number. We report previously undocumented variation in the study taxa. Our results are discussed within the context of Miocene Apes as well as the developmental and systematic implications. Am J Phys Anthropol, 2015. © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.

  15. Circadian Macronutrients Variations over the First 7 Weeks of Human Milk Feeding of Preterm Infants.

    Science.gov (United States)

    Moran-Lev, Hadar; Mimouni, Francis B; Ovental, Amit; Mangel, Laurence; Mandel, Dror; Lubetzky, Ronit

    2015-09-01

    Little is known about circadian variations of macronutrients content of expressed preterm human milk (HM). This study evaluated diurnal variations of macronutrients and energy content of preterm HM over the first 7 weeks of lactation and tested the hypothesis that values obtained during a morning sample are predictive of those obtained from an evening sample. Expressed HM was obtained from 32 mothers of preterm infants (26-33 weeks in gestational age), who routinely expressed all their milk every 3 hours from the beginning of the second to the seventh week after delivery. One aliquot was obtained from the first morning expression and the second from the evening expression. Energy and macronutrients contents were measured using an HM analyzer. Mean fat and energy contents of all samples obtained during the whole period were significantly higher in evening samples (p < 0.0001). There were no significant differences between morning and evening carbohydrates and protein contents. Concentrations of protein, carbohydrates, and fat from morning samples were predictive of evening concentrations to different extents (R(2) = 0.720, R(2) = 0.663, and R(2) = 0.20, respectively; p < 0.02). The predictability of evening values by morning values was not influenced by the week of lactation at sampling or by individual patients. In repeated-measures analysis of variance performed on 11 patients who completed the whole 7-week period, over time, there was a significant decrease in fat, energy, and protein contents, whereas carbohydrates content remained unchanged. Day-night differences remained significant only for fat content. Circadian variations in fat and energy concentrations of HM are consistent over the first 7 weeks of lactation. There are no consistent circadian variations in HM protein and carbohydrates. Over a given day, there are little variations in protein and carbohydrates content, but fat concentrations are more variable, and evening values are less well predicted by

  16. Lucas Heights technology park

    International Nuclear Information System (INIS)

    1987-01-01

    The proposed Lucas Heights Technology Park will pound together the applied research programs of Government, tertiary and industry sectors, aiming to foster technology transfer particularly to the high-technology manufacturing industry. A description of the site is given along with an outline of the envisaged development, existing facilities and expertise. ills

  17. Pharmacomicrobiomics: the impact of human microbiome variations on systems pharmacology and personalized therapeutics.

    Science.gov (United States)

    ElRakaiby, Marwa; Dutilh, Bas E; Rizkallah, Mariam R; Boleij, Annemarie; Cole, Jason N; Aziz, Ramy K

    2014-07-01

    The Human Microbiome Project (HMP) is a global initiative undertaken to identify and characterize the collection of human-associated microorganisms at multiple anatomic sites (skin, mouth, nose, colon, vagina), and to determine how intra-individual and inter-individual alterations in the microbiome influence human health, immunity, and different disease states. In this review article, we summarize the key findings and applications of the HMP that may impact pharmacology and personalized therapeutics. We propose a microbiome cloud model, reflecting the temporal and spatial uncertainty of defining an individual's microbiome composition, with examples of how intra-individual variations (such as age and mode of delivery) shape the microbiome structure. Additionally, we discuss how this microbiome cloud concept explains the difficulty to define a core human microbiome and to classify individuals according to their biome types. Detailed examples are presented on microbiome changes related to colorectal cancer, antibiotic administration, and pharmacomicrobiomics, or drug-microbiome interactions, highlighting how an improved understanding of the human microbiome, and alterations thereof, may lead to the development of novel therapeutic agents, the modification of antibiotic policies and implementation, and improved health outcomes. Finally, the prospects of a collaborative computational microbiome research initiative in Africa are discussed.

  18. Regional variations of cell surface carbohydrates in human oral stratified epithelium

    DEFF Research Database (Denmark)

    Vedtofte, P; Dabelsteen, Erik; Hakomori, S

    1984-01-01

    The distribution of blood group carbohydrate chains with antigen A, B, H type 2 chain (A and B precursor), and N-acetyllactosamine (H type 2 precursor) specificity was studied in human oral epithelium from different anatomical regions. These represented various epithelial differentiation patterns...... epithelium from nine blood group A, two blood group B, and nine blood group O individuals. The blood group carbohydrate chains were examined in tissue sections by immunofluorescence microscopy. The A and B blood group antigens were detected by human blood group sera, and antigen H type 2 chains and N...... antigen H type 2 chains in metaplastically keratinized buccal epithelium was found to differ significantly from that seen in normal non-keratinized buccal epithelium. The regional variations demonstrated in cell surface carbohydrates are suggested to reflect differences in tissue differentiation....

  19. ALDH1A2 (RALDH2 genetic variation in human congenital heart disease

    Directory of Open Access Journals (Sweden)

    Mesquita Sonia MF

    2009-11-01

    ALDH1A2 genetic variation is present in TOF patients, suggesting a possible causal role for this gene in rare cases of human CHD, but does not support the hypothesis that variation at the ALDH1A2 locus is a significant modifier of the risk for CHD in humans.

  20. Current trend of annotating single nucleotide variation in humans--A case study on SNVrap.

    Science.gov (United States)

    Li, Mulin Jun; Wang, Junwen

    2015-06-01

    As high throughput methods, such as whole genome genotyping arrays, whole exome sequencing (WES) and whole genome sequencing (WGS), have detected huge amounts of genetic variants associated with human diseases, function annotation of these variants is an indispensable step in understanding disease etiology. Large-scale functional genomics projects, such as The ENCODE Project and Roadmap Epigenomics Project, provide genome-wide profiling of functional elements across different human cell types and tissues. With the urgent demands for identification of disease-causal variants, comprehensive and easy-to-use annotation tool is highly in demand. Here we review and discuss current progress and trend of the variant annotation field. Furthermore, we introduce a comprehensive web portal for annotating human genetic variants. We use gene-based features and the latest functional genomics datasets to annotate single nucleotide variation (SNVs) in human, at whole genome scale. We further apply several function prediction algorithms to annotate SNVs that might affect different biological processes, including transcriptional gene regulation, alternative splicing, post-transcriptional regulation, translation and post-translational modifications. The SNVrap web portal is freely available at http://jjwanglab.org/snvrap. Copyright © 2014 Elsevier Inc. All rights reserved.

  1. STUDY ON NORTHERN AND SOUTHERN INDIA VARIATIONS OF HUMAN SKULL- A SECONDARY RESEARCH

    Directory of Open Access Journals (Sweden)

    Jameskutty Baby Jacob Kaithackal

    2016-12-01

    Full Text Available BACKGROUND Identity of a human being with regard to sex, race, age etc. can be revealed if the skull is suitably examined. The general concept of ethnic and geographic variations being reflected in the body as variations in size, shape, etc. can be checked for in the case of skeleton also. This article is formed out of a term paper study submitted by myself in 2016 to the Yenepoya University, Mangalore, Karnataka, as part of the postgraduate diploma course in Forensic Anthropology. The research was based on a question whether there is a significant difference between human skulls from North and South India. The aims/objectives were bi-fold: to analyse the difference in male and female skull from North Indian and South Indian regions from review of scholarly literature and to explore the possibility identification of individuals from cranial features unique to North and South India. MATERIALS AND METHODS The original articles available on this type of work were extensively reviewed to recognise any traits that differentiated the skulls with regard to their regional variation. RESULTS At the end of the scrutiny of such papers, a summary of the features that distinguished skulls as belonging to northern or southern parts of India was tried. The Indian cranial series, though varied widely in shape, the absence of any statistically significant difference between them made it unreliable to predict skull as male or female by morphometric estimation. The studies by different scholars did not propose for a uniform distinctiveness between north and south Indian skulls. CONCLUSION It was concluded that analysing a single specimen to be of a distinct geographic origin should be done more cautiously when compared to a setting of series analysis where variability might be there of course.

  2. A map of human genome variation from population-scale sequencing.

    Science.gov (United States)

    Abecasis, Gonçalo R; Altshuler, David; Auton, Adam; Brooks, Lisa D; Durbin, Richard M; Gibbs, Richard A; Hurles, Matt E; McVean, Gil A

    2010-10-28

    The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and phenotype. Here we present results of the pilot phase of the project, designed to develop and compare different strategies for genome-wide sequencing with high-throughput platforms. We undertook three projects: low-coverage whole-genome sequencing of 179 individuals from four populations; high-coverage sequencing of two mother-father-child trios; and exon-targeted sequencing of 697 individuals from seven populations. We describe the location, allele frequency and local haplotype structure of approximately 15 million single nucleotide polymorphisms, 1 million short insertions and deletions, and 20,000 structural variants, most of which were previously undescribed. We show that, because we have catalogued the vast majority of common variation, over 95% of the currently accessible variants found in any individual are present in this data set. On average, each person is found to carry approximately 250 to 300 loss-of-function variants in annotated genes and 50 to 100 variants previously implicated in inherited disorders. We demonstrate how these results can be used to inform association and functional studies. From the two trios, we directly estimate the rate of de novo germline base substitution mutations to be approximately 10(-8) per base pair per generation. We explore the data with regard to signatures of natural selection, and identify a marked reduction of genetic variation in the neighbourhood of genes, due to selection at linked sites. These methods and public data will support the next phase of human genetic research.

  3. APTCARE - Lucas Heights

    International Nuclear Information System (INIS)

    1986-05-01

    This plan details command co-ordination and support responses of Commonwealth and State Authorities in the event of an accident with offsite consequences at the Lucas Heights Research Laboratories. The plan has been prepared by the AAEC Local Liaison Working Party, comprising representatives of the Australian Atomic Energy Commission, NSW Police Department, NSW Board of Fire Commissioners, NSW State Emergency Services and Civil Defence Organisation, NSW Department of Health, NSW Department of Environment and Planning and Sutherland Shire Council

  4. Association of common genetic variants with human skin color variation in Indian populations.

    Science.gov (United States)

    Sarkar, Anujit; Nandineni, Madhusudan R

    2018-01-01

    Human skin color is one of the most conspicuously variable physical traits that has attracted the attention of physical anthropologists, social scientists and human geneticists. Although several studies have established the underlying genes and their variants affecting human skin color, they were mostly confined to Europeans and Africans and similar studies in Indian populations have been scanty. Studying the association between candidate genetic variants and skin color will help to validate previous findings and to better understand the molecular mechanism of skin color variation. In this study, 22 candidate SNPs from 12 genes were tested for association with skin color in 299 unrelated samples sourced from nine geographical locations in India. Our study establishes the association of 9 SNPs with the phenotype in Indian populations and could explain ∼31% of the variance in skin color. Haplotype analysis of chromosome 15 revealed a significant association of alleles G, A and C of SNPs rs1426654, rs11070627, and rs12913316, respectively, to the phenotype, and accounted for 17% of the variance. Latitude of the sampling location was also a significant factor, contributing to ∼19% of the variation observed in the samples. These observations support the findings that rs1426654 and rs4775730 located in SLC24A5, and rs11070627 and rs12913316 located in MYEF2 and CTXN2 genes respectively, are major contributors toward skin pigmentation and would aid in further unraveling the genotype-phenotype association in Indian populations. These findings can be utilized in forensic DNA applications for criminal investigations. © 2017 Wiley Periodicals, Inc.

  5. HLA DNA sequence variation among human populations: molecular signatures of demographic and selective events.

    Directory of Open Access Journals (Sweden)

    Stéphane Buhler

    2011-02-01

    Full Text Available Molecular differences between HLA alleles vary up to 57 nucleotides within the peptide binding coding region of human Major Histocompatibility Complex (MHC genes, but it is still unclear whether this variation results from a stochastic process or from selective constraints related to functional differences among HLA molecules. Although HLA alleles are generally treated as equidistant molecular units in population genetic studies, DNA sequence diversity among populations is also crucial to interpret the observed HLA polymorphism. In this study, we used a large dataset of 2,062 DNA sequences defined for the different HLA alleles to analyze nucleotide diversity of seven HLA genes in 23,500 individuals of about 200 populations spread worldwide. We first analyzed the HLA molecular structure and diversity of these populations in relation to geographic variation and we further investigated possible departures from selective neutrality through Tajima's tests and mismatch distributions. All results were compared to those obtained by classical approaches applied to HLA allele frequencies.Our study shows that the global patterns of HLA nucleotide diversity among populations are significantly correlated to geography, although in some specific cases the molecular information reveals unexpected genetic relationships. At all loci except HLA-DPB1, populations have accumulated a high proportion of very divergent alleles, suggesting an advantage of heterozygotes expressing molecularly distant HLA molecules (asymmetric overdominant selection model. However, both different intensities of selection and unequal levels of gene conversion may explain the heterogeneous mismatch distributions observed among the loci. Also, distinctive patterns of sequence divergence observed at the HLA-DPB1 locus suggest current neutrality but old selective pressures on this gene. We conclude that HLA DNA sequences advantageously complement HLA allele frequencies as a source of data used

  6. Childhood height, adult height, and the risk of prostate cancer

    DEFF Research Database (Denmark)

    Bjerregaard, Lise Geisler; Aarestrup, Julie; Gamborg, Michael

    2016-01-01

    PURPOSE: We previously showed that childhood height is positively associated with prostate cancer risk. It is, however, unknown whether childhood height exerts its effects independently of or through adult height. We investigated whether and to what extent childhood height has a direct effect...... on the risk of prostate cancer apart from adult height. METHODS: We included 5,871 men with height measured at ages 7 and 13 years in the Copenhagen School Health Records Register who also had adult (50-65 years) height measured in the Danish Diet, Cancer and Health study. Prostate cancer status was obtained...... through linkage to the Danish Cancer Registry. Direct and total effects of childhood height on prostate cancer risk were estimated from Cox regressions. RESULTS: From 1996 to 2012, 429 prostate cancers occurred. Child and adult heights were positively and significantly associated with prostate cancer risk...

  7. Size variation in early human mandibles and molars from Klasies River, South Africa: comparison with other middle and late Pleistocene assemblages and with modern humans.

    Science.gov (United States)

    Royer, Danielle F; Lockwood, Charles A; Scott, Jeremiah E; Grine, Frederick E

    2009-10-01

    Previous studies of the Middle Stone Age human remains from Klasies River have concluded that they exhibited more sexual dimorphism than extant populations, but these claims have not been assessed statistically. We evaluate these claims by comparing size variation in the best-represented elements at the site, namely the mandibular corpora and M(2)s, to that in samples from three recent human populations using resampling methods. We also examine size variation in these same elements from seven additional middle and late Pleistocene sites: Skhūl, Dolní Vestonice, Sima de los Huesos, Arago, Krapina, Shanidar, and Vindija. Our results demonstrate that size variation in the Klasies assemblage was greater than in recent humans, consistent with arguments that the Klasies people were more dimorphic than living humans. Variation in the Skhūl, Dolní Vestonice, and Sima de los Huesos mandibular samples is also higher than in the recent human samples, indicating that the Klasies sample was not unusual among middle and late Pleistocene hominins. In contrast, the Neandertal samples (Krapina, Shanidar, and Vindija) do not evince relatively high mandibular and molar variation, which may indicate that the level of dimorphism in Neandertals was similar to that observed in extant humans. These results suggest that the reduced levels of dimorphism in Neandertals and living humans may have developed independently, though larger fossil samples are needed to test this hypothesis.

  8. Accuracy of recumbent height measurement.

    Science.gov (United States)

    Gray, D S; Crider, J B; Kelley, C; Dickinson, L C

    1985-01-01

    Since many patients requiring specialized nutritional support are bedridden, measurement of height for purposes of nutritional assessment or prescription must often be done with the patient in bed. This study examined the accuracy of measuring body height in bed in the supine position. Two measurements were performed on 108 ambulatory inpatients: (1) standing height using a standard height-weight scale, and (2) bed height using a flexible tape. Patients were divided into four groups based on which of two researchers performed each of the two measurements. Each patient was also weighed and self-reported height, weight, sex, and age were recorded. Bed height was significantly longer than standing height by 3.68 cm, but the two measurements were equally precise. It was believed, however, that this 2% difference was probably not clinically significant in most circumstances. Bed height correlated highly with standing height (r = 0.95), and the regression equation was standing height = 13.82 +/- 0.09 bed height. Patients overestimated their heights. Heights recorded by nurses were more accurate when patients were measured than when asked about their heights, but the patients were more often asked than measured.

  9. Mechanisms of Surface Antigenic Variation in the Human Pathogenic Fungus Pneumocystis jirovecii.

    Science.gov (United States)

    Schmid-Siegert, Emanuel; Richard, Sophie; Luraschi, Amanda; Mühlethaler, Konrad; Pagni, Marco; Hauser, Philippe M

    2017-11-07

    Microbial pathogens commonly escape the human immune system by varying surface proteins. We investigated the mechanisms used for that purpose by Pneumocystis jirovecii This uncultivable fungus is an obligate pulmonary pathogen that in immunocompromised individuals causes pneumonia, a major life-threatening infection. Long-read PacBio sequencing was used to assemble a core of subtelomeres of a single P. jirovecii strain from a bronchoalveolar lavage fluid specimen from a single patient. A total of 113 genes encoding surface proteins were identified, including 28 pseudogenes. These genes formed a subtelomeric gene superfamily, which included five families encoding adhesive glycosylphosphatidylinositol (GPI)-anchored glycoproteins and one family encoding excreted glycoproteins. Numerical analyses suggested that diversification of the glycoproteins relies on mosaic genes created by ectopic recombination and occurs only within each family. DNA motifs suggested that all genes are expressed independently, except those of the family encoding the most abundant surface glycoproteins, which are subject to mutually exclusive expression. PCR analyses showed that exchange of the expressed gene of the latter family occurs frequently, possibly favored by the location of the genes proximal to the telomere because this allows concomitant telomere exchange. Our observations suggest that (i) the P. jirovecii cell surface is made of a complex mixture of different surface proteins, with a majority of a single isoform of the most abundant glycoprotein, (ii) genetic mosaicism within each family ensures variation of the glycoproteins, and (iii) the strategy of the fungus consists of the continuous production of new subpopulations composed of cells that are antigenically different. IMPORTANCE Pneumocystis jirovecii is a fungus causing severe pneumonia in immunocompromised individuals. It is the second most frequent life-threatening invasive fungal infection. We have studied the mechanisms

  10. Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics.

    Science.gov (United States)

    Gussow, Ayal B; Copeland, Brett R; Dhindsa, Ryan S; Wang, Quanli; Petrovski, Slavé; Majoros, William H; Allen, Andrew S; Goldstein, David B

    2017-01-01

    There is broad agreement that genetic mutations occurring outside of the protein-coding regions play a key role in human disease. Despite this consensus, we are not yet capable of discerning which portions of non-coding sequence are important in the context of human disease. Here, we present Orion, an approach that detects regions of the non-coding genome that are depleted of variation, suggesting that the regions are intolerant of mutations and subject to purifying selection in the human lineage. We show that Orion is highly correlated with known intolerant regions as well as regions that harbor putatively pathogenic variation. This approach provides a mechanism to identify pathogenic variation in the human non-coding genome and will have immediate utility in the diagnostic interpretation of patient genomes and in large case control studies using whole-genome sequences.

  11. Ethnic variation in validity of classification of overweight and obesity using self-reported weight and height in American women and men: the Third National Health and Nutrition Examination Survey

    Directory of Open Access Journals (Sweden)

    Sempos Christopher T

    2005-10-01

    Full Text Available Abstract Background Few data have been published on the validity of classification of overweight and obesity based on self-reported weight in representative samples of Hispanic as compared to other American populations despite the wide use of such data. Objective To test the null hypothesis that ethnicity is unrelated to bias of mean body mass index (BMI and to sensitivity of overweight or obesity (BMI >= 25 kg/m2 derived from self-reported (SR versus measured weight and height using measured BMI as the gold standard. Design Cross-sectional survey of a large national sample, the Third National Health and Nutrition Examination Survey (NHANES III conducted in 1988–1994. Participants American men and women aged 20 years and over (n = 15,025. Measurements SR height, weight, cigarette smoking, health status, and socio-demographic variables from home interview and measured weight and height. Results In women and Mexican American (MA men SR BMI underestimated true prevalence rates of overweight or obesity. For other men, no consistent difference was seen. Sensitivity of SR was similar in non-Hispanic European Americans (EA and non-Hispanic African Americans (AA but much lower in MA. Prevalence of obesity (BMI >= 30 kg/m2 is consistently underestimated by self-report, the gap being greater for MA than for other women, but similar for MA and other men. The mean difference between self-reported and measured BMI was greater in MA (men -0.37, women -0.76 kg/m2 than in non-Hispanic EA (men -0.22, women -0.62 kg/m2. In a regression model with the difference between self-reported and measured BMI as the dependent variable, MA ethnicity was a significant (p Conclusion Under-estimation of the prevalence of overweight or obesity based on height and weight self-reported at interview varied significantly among ethnic groups independent of other variables.

  12. The Effect of Adolescent Experience on Labor Market Outcomes: The Case of Height.

    Science.gov (United States)

    Persico, Nicola; Postlewaite, Andrew; Silverman, Dan

    2004-01-01

    Taller workers receive a wage premium. Net of differences in family background, the disparity is similar in magnitude to the race and gender gaps. We exploit variation in an individual's height over time to explore how height affects wages. Controlling for teen height essentially eliminates the effect of adult height on wages for white men. The…

  13. Human genetic variation in VAC14 regulates Salmonella invasion and typhoid fever through modulation of cholesterol.

    Science.gov (United States)

    Alvarez, Monica I; Glover, Luke C; Luo, Peter; Wang, Liuyang; Theusch, Elizabeth; Oehlers, Stefan H; Walton, Eric M; Tram, Trinh Thi Bich; Kuang, Yu-Lin; Rotter, Jerome I; McClean, Colleen M; Chinh, Nguyen Tran; Medina, Marisa W; Tobin, David M; Dunstan, Sarah J; Ko, Dennis C

    2017-09-12

    Risk, severity, and outcome of infection depend on the interplay of pathogen virulence and host susceptibility. Systematic identification of genetic susceptibility to infection is being undertaken through genome-wide association studies, but how to expeditiously move from genetic differences to functional mechanisms is unclear. Here, we use genetic association of molecular, cellular, and human disease traits and experimental validation to demonstrate that genetic variation affects expression of VAC14, a phosphoinositide-regulating protein, to influence susceptibility to Salmonella enterica serovar Typhi ( S Typhi) infection. Decreased VAC14 expression increased plasma membrane cholesterol, facilitating Salmonella docking and invasion. This increased susceptibility at the cellular level manifests as increased susceptibility to typhoid fever in a Vietnamese population. Furthermore, treating zebrafish with a cholesterol-lowering agent, ezetimibe, reduced susceptibility to S Typhi. Thus, coupling multiple genetic association studies with mechanistic dissection revealed how VAC14 regulates Salmonella invasion and typhoid fever susceptibility and may open doors to new prophylactic/therapeutic approaches.

  14. Variation in population exposure in China as a result of differing human activities

    Energy Technology Data Exchange (ETDEWEB)

    Pan, Z.Q. [China Atomic Energy Authority, Beijing (China). Bureau of Safety, Protection and Health; Guo, M.Q. [China Nuclear Industry Huaqing Company, Beijing (China)

    1995-08-01

    The necessity of studying the variations in radiation levels dispassionately is discussed. Human activities may increase, but can also decrease, radiation dose to the population. Travel by air may cause a rise in population collective dose by 3.6 x 10 man.Sv, and travel by ship, train and vehicle may lead to a drop of 5.36 x 10{sup 2} man.Sv. Dwellings of coal cinder brick may increase collective dose by 3.5 x 10{sup 3} man.Sv, and buildings of reinforced concrete may decrease collective dose by 3.7 x 10{sup 3} man.Sv. It is inadequate to study only those activities which may increase radiation levels. (author).

  15. Unleashing the power of human genetic variation knowledge: New Zealand stakeholder perspectives.

    Science.gov (United States)

    Gu, Yulong; Warren, James Roy; Day, Karen Jean

    2011-01-01

    This study aimed to characterize the challenges in using genetic information in health care and to identify opportunities for improvement. Taking a grounded theory approach, semistructured interviews were conducted with 48 participants to collect multiple stakeholder perspectives on genetic services in New Zealand. Three themes emerged from the data: (1) four service delivery models were identified in operation, including both those expected models involving genetic counselors and variations that do not route through the formal genetic service program; (2) multiple barriers to sharing and using genetic information were perceived, including technological, organizational, institutional, legal, ethical, and social issues; and (3) impediments to wider use of genetic testing technology, including variable understanding of genetic test utilities among clinicians and the limited capacity of clinical genetic services. Targeting these problems, information technologies and knowledge management tools have the potential to support key tasks in genetic services delivery, improve knowledge processes, and enhance knowledge networks. Because of the effect of issues in genetic information and knowledge management, the potential of human genetic variation knowledge to enhance health care delivery has been put on a "leash."

  16. Genetic variations in the DNA replication origins of human papillomavirus family correlate with their oncogenic potential.

    Science.gov (United States)

    Yilmaz, Gulden; Biswas-Fiss, Esther E; Biswas, Subhasis B

    2018-04-01

    Human papillomaviruses (HPVs) encompass a large family of viruses that range from benign to highly carcinogenic. The crucial differences between benign and carcinogenic types of HPV remain unknown, except that the two HPV types differ in the frequency of DNA replication. We have systematically analyzed the mechanism of HPV DNA replication initiation in low-risk and high-risk HPVs. Our results demonstrate that HPV-encoded E2 initiator protein and its four binding sites in the replication origin play pivotal roles in determining the destiny of the HPV-infected cell. We have identified strain-specific single nucleotide variations in E2 binding sites found only in the high-risk HPVs. We have demonstrated that these variations result in attenuated formation of the E2-DNA complex. E2 binding to these sites is linked to the activation of the DNA replication origin as well as initiation of DNA replication. Both electrophoretic mobility shift assay and atomic force microscopy studies demonstrated that binding of E2 from either low- or high-risk HPVs with variant binding sequences lacked multimeric E2-DNA complex formation in vitro. These results provided a molecular basis of differential DNA replication in the two types of HPVs and pointed to a correlation with the development of cancer. Copyright © 2017. Published by Elsevier B.V.

  17. Common Variation in the DOPA Decarboxylase (DDC) Gene and Human Striatal DDC Activity In Vivo.

    Science.gov (United States)

    Eisenberg, Daniel P; Kohn, Philip D; Hegarty, Catherine E; Ianni, Angela M; Kolachana, Bhaskar; Gregory, Michael D; Masdeu, Joseph C; Berman, Karen F

    2016-08-01

    The synthesis of multiple amine neurotransmitters, such as dopamine, norepinephrine, serotonin, and trace amines, relies in part on DOPA decarboxylase (DDC, AADC), an enzyme that is required for normative neural operations. Because rare, loss-of-function mutations in the DDC gene result in severe enzymatic deficiency and devastating autonomic, motor, and cognitive impairment, DDC common genetic polymorphisms have been proposed as a source of more moderate, but clinically important, alterations in DDC function that may contribute to risk, course, or treatment response in complex, heritable neuropsychiatric illnesses. However, a direct link between common genetic variation in DDC and DDC activity in the living human brain has never been established. We therefore tested for this association by conducting extensive genotyping across the DDC gene in a large cohort of 120 healthy individuals, for whom DDC activity was then quantified with [(18)F]-FDOPA positron emission tomography (PET). The specific uptake constant, Ki, a measure of DDC activity, was estimated for striatal regions of interest and found to be predicted by one of five tested haplotypes, particularly in the ventral striatum. These data provide evidence for cis-acting, functional common polymorphisms in the DDC gene and support future work to determine whether such variation might meaningfully contribute to DDC-mediated neural processes relevant to neuropsychiatric illness and treatment.

  18. Analysis of Long-Term Temperature Variations in the Human Body.

    Science.gov (United States)

    Dakappa, Pradeepa Hoskeri; Mahabala, Chakrapani

    2015-01-01

    Body temperature is a continuous physiological variable. In normal healthy adults, oral temperature is estimated to vary between 36.1°C and 37.2°C. Fever is a complex host response to many external and internal agents and is a potential contributor to many clinical conditions. Despite being one of the foremost vital signs, temperature and its analysis and variations during many pathological conditions has yet to be examined in detail using mathematical techniques. Classical fever patterns based on recordings obtained every 8-12 h have been developed. However, such patterns do not provide meaningful information in diagnosing diseases. Because fever is a host response, it is likely that there could be a unique response to specific etiologies. Continuous long-term temperature monitoring and pattern analysis using specific analytical methods developed in engineering and physics could aid in revealing unique fever responses of hosts and in different clinical conditions. Furthermore, such analysis can potentially be used as a novel diagnostic tool and to study the effect of pharmaceutical agents and other therapeutic protocols. Thus, the goal of our article is to present a comprehensive review of the recent relevant literature and analyze the current state of research regarding temperature variations in the human body.

  19. Memory for target height is scaled to observer height.

    Science.gov (United States)

    Twedt, Elyssa; Crawford, L Elizabeth; Proffitt, Dennis R

    2012-04-01

    According to the embodied approach to visual perception, individuals scale the environment to their bodies. This approach highlights the central role of the body for immediate, situated action. The present experiments addressed whether body scaling--specifically, eye-height scaling--occurs in memory when action is not immediate. Participants viewed standard targets that were either the same height as, taller than, or shorter than themselves. Participants then viewed a comparison target and judged whether the comparison was taller or shorter than the standard target. Participants were most accurate when the standard target height matched their own heights, taking into account postural changes. Participants were biased to underestimate standard target height, in general, and to push standard target height away from their own heights. These results are consistent with the literature on eye-height scaling in visual perception and suggest that body scaling is not only a useful metric for perception and action, but is also preserved in memory.

  20. Novel association strategy with copy number variation for identifying new risk Loci of human diseases.

    Directory of Open Access Journals (Sweden)

    Xianfeng Chen

    2010-08-01

    Full Text Available Copy number variations (CNV are important causal genetic variations for human disease; however, the lack of a statistical model has impeded the systematic testing of CNVs associated with disease in large-scale cohort.Here, we developed a novel integrated strategy to test CNV-association in genome-wide case-control studies. We converted the single-nucleotide polymorphism (SNP signal to copy number states using a well-trained hidden Markov model. We mapped the susceptible CNV-loci through SNP site-specific testing to cope with the physiological complexity of CNVs. We also ensured the credibility of the associated CNVs through further window-based CNV-pattern clustering. Genome-wide data with seven diseases were used to test our strategy and, in total, we identified 36 new susceptible loci that are associated with CNVs for the seven diseases: 5 with bipolar disorder, 4 with coronary artery disease, 1 with Crohn's disease, 7 with hypertension, 9 with rheumatoid arthritis, 7 with type 1 diabetes and 3 with type 2 diabetes. Fifteen of these identified loci were validated through genotype-association and physiological function from previous studies, which provide further confidence for our results. Notably, the genes associated with bipolar disorder converged in the phosphoinositide/calcium signaling, a well-known affected pathway in bipolar disorder, which further supports that CNVs have impact on bipolar disorder.Our results demonstrated the effectiveness and robustness of our CNV-association analysis and provided an alternative avenue for discovering new associated loci of human diseases.

  1. Striatal dopamine release and genetic variation of the serotonin 2C receptor in humans.

    Science.gov (United States)

    Mickey, Brian J; Sanford, Benjamin J; Love, Tiffany M; Shen, Pei-Hong; Hodgkinson, Colin A; Stohler, Christian S; Goldman, David; Zubieta, Jon-Kar

    2012-07-04

    Mesoaccumbal and nigrostriatal projections are sensitive to stress, and heightened stress sensitivity is thought to confer risk for neuropsychiatric disorders. Serotonin 2C (5-HT(2C)) receptors mediate the inhibitory effects of serotonin on dopaminergic circuitry in experimental animals, and preclinical findings have implicated 5-HT(2C) receptors in motivated behaviors and psychotropic drug mechanisms. In humans, a common missense single-nucleotide change (rs6318, Cys23Ser) in the 5-HT(2C) receptor gene (HTR2C) has been associated with altered activity in vitro and with clinical mood disorders. We hypothesized that dopaminergic circuitry would be more sensitive to stress in humans carrying the Ser23 variant. To test this hypothesis, we studied 54 healthy humans using positron emission tomography and the displaceable D(2)/D(3) receptor radiotracer [(11)C]raclopride. Binding potential (BP(ND)) was quantified before and after a standardized stress challenge consisting of 20 min of moderate deep muscular pain, and reduction in BP(ND) served as an index of dopamine release. The Cys23Ser variant was genotyped on a custom array, and ancestry informative markers were used to control for population stratification. We found greater dopamine release in the nucleus accumbens, caudate nucleus, and putamen among Ser23 carriers, after controlling for sex, age, and ancestry. Genotype accounted for 12% of the variance in dopamine release in the nucleus accumbens. There was no association of Cys23Ser with baseline BP(ND). These findings indicate that a putatively functional HTR2C variant (Ser23) is associated with greater striatal dopamine release during pain in healthy humans. Mesoaccumbal stress sensitivity may mediate the effects of HTR2C variation on risk of neuropsychiatric disorders.

  2. Rethinking the starch digestion hypothesis for AMY1 copy number variation in humans.

    Science.gov (United States)

    Fernández, Catalina I; Wiley, Andrea S

    2017-08-01

    Alpha-amylase exists across taxonomic kingdoms with a deep evolutionary history of gene duplications that resulted in several α-amylase paralogs. Copy number variation (CNV) in the salivary α-amylase gene (AMY1) exists in many taxa, but among primates, humans appear to have higher average AMY1 copies than nonhuman primates. Additionally, AMY1 CNV in humans has been associated with starch content of diets, and one known function of α-amylase is its involvement in starch digestion. Thus high AMY1 CNV is considered to result from selection favoring more efficient starch digestion in the Homo lineage. Here, we present several lines of evidence that challenge the hypothesis that increased AMY1 CNV is an adaptation to starch consumption. We observe that α- amylase plays a very limited role in starch digestion, with additional steps required for starch digestion and glucose metabolism. Specifically, we note that α-amylase hydrolysis only produces a minute amount of free glucose with further enzymatic digestion and glucose absorption being rate-limiting steps for glucose availability. Indeed α-amylase is nonessential for starch digestion since sucrase-isomaltase and maltase-glucoamylase can hydrolyze whole starch granules while releasing glucose. While higher AMY1 CN and CNV among human populations may result from natural selection, existing evidence does not support starch digestion as the major selective force. We report that in humans α-amylase is expressed in several other tissues where it may have potential roles of evolutionary significance. © 2017 Wiley Periodicals, Inc.

  3. Urbanization Causes Increased Cloud Base Height and Decreased Fog in Coastal Southern California

    Science.gov (United States)

    Williams, A. Park; Schwartz, Rachel E.; Iacobellis, Sam; Seager, Richard; Cook, Benjamin I.; Still, Christopher J.; Husak, Gregory; Michaelsen, Joel

    2015-01-01

    Subtropical marine stratus clouds regulate coastal and global climate, but future trends in these clouds are uncertain. In coastal Southern California (CSCA), interannual variations in summer stratus cloud occurrence are spatially coherent across 24 airfields and dictated by positive relationships with stability above the marine boundary layer (MBL) and MBL height. Trends, however, have been spatially variable since records began in the mid-1900s due to differences in nighttime warming. Among CSCA airfields, differences in nighttime warming, but not daytime warming, are strongly and positively related to fraction of nearby urban cover, consistent with an urban heat island effect. Nighttime warming raises the near-surface dew point depression, which lifts the altitude of condensation and cloud base height, thereby reducing fog frequency. Continued urban warming, rising cloud base heights, and associated effects on energy and water balance would profoundly impact ecological and human systems in highly populated and ecologically diverse CSCA.

  4. Application of Method of Variation to Analyze and Predict Human Induced Modifications of Water Resource Systems

    Science.gov (United States)

    Dessu, S. B.; Melesse, A. M.; Mahadev, B.; McClain, M.

    2010-12-01

    Water resource systems have often used gravitational surface and subsurface flows because of their practicality in hydrological modeling and prediction. Activities such as inter/intra-basin water transfer, the use of small pumps and the construction of micro-ponds challenge the tradition of natural rivers as water resource management unit. On the contrary, precipitation is barely affected by topography and plot harvesting in wet regions can be more manageable than diverting from rivers. Therefore, it is indicative to attend to systems where precipitation drives the dynamics while the internal mechanics constitutes spectrum of human activity and decision in a network of plots. The trade-in volume and path of harvested precipitation depends on water balance, energy balance and the kinematics of supply and demand. Method of variation can be used to understand and predict the implication of local excess precipitation harvest and exchange on the natural water system. A system model was developed using the variational form of Euler-Bernoulli’s equation for the Kenyan Mara River basin. Satellite derived digital elevation models, precipitation estimates, and surface properties such as fractional impervious surface area, are used to estimate the available water resource. Four management conditions are imposed in the model: gravitational flow, open water extraction and high water use investment at upstream and downstream respectively. According to the model, the first management maintains the basin status quo while the open source management could induce externality. The high water market at the upstream in the third management offers more than 50% of the basin-wide total revenue to the upper third section of the basin thus may promote more harvesting. The open source and upstream exploitation suggest potential drop of water availability to downstream. The model exposed the latent potential of economic gradient to reconfigure the flow network along the direction where the

  5. Within-Host Variations of Human Papillomavirus Reveal APOBEC-Signature Mutagenesis in the Viral Genome.

    Science.gov (United States)

    Hirose, Yusuke; Onuki, Mamiko; Tenjimbayashi, Yuri; Mori, Seiichiro; Ishii, Yoshiyuki; Takeuchi, Takamasa; Tasaka, Nobutaka; Satoh, Toyomi; Morisada, Tohru; Iwata, Takashi; Miyamoto, Shingo; Matsumoto, Koji; Sekizawa, Akihiko; Kukimoto, Iwao

    2018-03-28

    Persistent infection with oncogenic human papillomaviruses (HPVs) causes cervical cancer, accompanied with the accumulation of somatic mutations into the host genome. There are concomitant genetic changes in the HPV genome during viral infection; however, their relevance to cervical carcinogenesis is poorly understood. Here we explored within-host genetic diversity of HPV by performing deep sequencing analyses of viral whole-genome sequences in clinical specimens. The whole genomes of HPV types 16, 52 and 58 were amplified by type-specific PCR from total cellular DNA of cervical exfoliated cells collected from patients with cervical intraepithelial neoplasia (CIN) and invasive cervical cancer (ICC), and were deep-sequenced. After constructing a reference vial genome sequence for each specimen, nucleotide positions showing changes with > 0.5% frequencies compared to the reference sequence were determined for individual samples. In total, 1,052 positions of nucleotide variations were detected in HPV genomes from 151 samples (CIN1, n = 56; CIN2/3, n = 68; ICC, n = 27), with varying numbers per sample. Overall, C-to-T and C-to-A substitutions were the dominant changes observed across all histological grades. While C-to-T transitions were predominantly detected in CIN1, their prevalence was decreased in CIN2/3 and fell below that of C-to-A transversions in ICC. Analysis of the tri-nucleotides context encompassing substituted bases revealed that Tp C pN, a preferred target sequence for cellular APOBEC cytosine deaminases, was a primary site for C-to-T substitutions in the HPV genome. These results strongly imply that the APOBEC proteins are drivers of HPV genome mutation, particularly in CIN1 lesions. IMPORTANCE HPVs exhibit surprisingly high levels of genetic diversity, including a large repertoire of minor genomic variants in each viral genotype. Here, by conducting deep sequencing analyses, we show for the first time a comprehensive snapshot of the "within

  6. Stochastic variation in telomere shortening rate causes heterogeneity of human fibroblast replicative life span.

    Science.gov (United States)

    Martin-Ruiz, Carmen; Saretzki, Gabriele; Petrie, Joanne; Ladhoff, Juliane; Jeyapalan, Jessie; Wei, Wenyi; Sedivy, John; von Zglinicki, Thomas

    2004-04-23

    The replicative life span of human fibroblasts is heterogeneous, with a fraction of cells senescing at every population doubling. To find out whether this heterogeneity is due to premature senescence, i.e. driven by a nontelomeric mechanism, fibroblasts with a senescent phenotype were isolated from growing cultures and clones by flow cytometry. These senescent cells had shorter telomeres than their cycling counterparts at all population doubling levels and both in mass cultures and in individual subclones, indicating heterogeneity in the rate of telomere shortening. Ectopic expression of telomerase stabilized telomere length in the majority of cells and rescued them from early senescence, suggesting a causal role of telomere shortening. Under standard cell culture conditions, there was a minor fraction of cells that showed a senescent phenotype and short telomeres despite active telomerase. This fraction increased under chronic mild oxidative stress, which is known to accelerate telomere shortening. It is possible that even high telomerase activity cannot fully compensate for telomere shortening in all cells. The data show that heterogeneity of the human fibroblast replicative life span can be caused by significant stochastic cell-to-cell variation in telomere shortening.

  7. Distinct Contributions of Replication and Transcription to Mutation Rate Variation of Human Genomes

    KAUST Repository

    Cui, Peng; Ding, Feng; Lin, Qiang; Zhang, Lingfang; Li, Ang; Zhang, Zhang; Hu, Songnian; Yu, Jun

    2012-01-01

    Here, we evaluate the contribution of two major biological processes—DNA replication and transcription—to mutation rate variation in human genomes. Based on analysis of the public human tissue transcriptomics data, high-resolution replicating map of Hela cells and dbSNP data, we present significant correlations between expression breadth, replication time in local regions and SNP density. SNP density of tissue-specific (TS) genes is significantly higher than that of housekeeping (HK) genes. TS genes tend to locate in late-replicating genomic regions and genes in such regions have a higher SNP density compared to those in early-replication regions. In addition, SNP density is found to be positively correlated with expression level among HK genes. We conclude that the process of DNA replication generates stronger mutational pressure than transcription-associated biological processes do, resulting in an increase of mutation rate in TS genes while having weaker effects on HK genes. In contrast, transcription-associated processes are mainly responsible for the accumulation of mutations in highly-expressed HK genes.

  8. Human Y chromosome copy number variation in the next generation sequencing era and beyond.

    Science.gov (United States)

    Massaia, Andrea; Xue, Yali

    2017-05-01

    The human Y chromosome provides a fertile ground for structural rearrangements owing to its haploidy and high content of repeated sequences. The methodologies used for copy number variation (CNV) studies have developed over the years. Low-throughput techniques based on direct observation of rearrangements were developed early on, and are still used, often to complement array-based or sequencing approaches which have limited power in regions with high repeat content and specifically in the presence of long, identical repeats, such as those found in human sex chromosomes. Some specific rearrangements have been investigated for decades; because of their effects on fertility, or their outstanding evolutionary features, the interest in these has not diminished. However, following the flourishing of large-scale genomics, several studies have investigated CNVs across the whole chromosome. These studies sometimes employ data generated within large genomic projects such as the DDD study or the 1000 Genomes Project, and often survey large samples of healthy individuals without any prior selection. Novel technologies based on sequencing long molecules and combinations of technologies, promise to stimulate the study of Y-CNVs in the immediate future.

  9. Distinct Contributions of Replication and Transcription to Mutation Rate Variation of Human Genomes

    KAUST Repository

    Cui, Peng

    2012-03-23

    Here, we evaluate the contribution of two major biological processes—DNA replication and transcription—to mutation rate variation in human genomes. Based on analysis of the public human tissue transcriptomics data, high-resolution replicating map of Hela cells and dbSNP data, we present significant correlations between expression breadth, replication time in local regions and SNP density. SNP density of tissue-specific (TS) genes is significantly higher than that of housekeeping (HK) genes. TS genes tend to locate in late-replicating genomic regions and genes in such regions have a higher SNP density compared to those in early-replication regions. In addition, SNP density is found to be positively correlated with expression level among HK genes. We conclude that the process of DNA replication generates stronger mutational pressure than transcription-associated biological processes do, resulting in an increase of mutation rate in TS genes while having weaker effects on HK genes. In contrast, transcription-associated processes are mainly responsible for the accumulation of mutations in highly-expressed HK genes.

  10. Inter- and Intraspecific Variations in the Pectoral Muscles of Common Chimpanzees (Pan troglodytes), Bonobos (Pan paniscus), and Humans (Homo sapiens)

    OpenAIRE

    Potau, J. M.; Arias-Martorell, J.; Bello-Hellegouarch, G.; Casado, A.; Pastor, J. F.; de Paz, F.; Diogo, R.

    2018-01-01

    We have analyzed anatomic variations in the pectoralis major and pectoralis minor muscles of common chimpanzees (Pan\\ud troglodytes) and bonobos(Pan paniscus) and compared them to anatomic variations in these muscles in humans(Homo sapiens). We\\ud have macroscopically dissected these muscles in six adult Pan troglodytes, five Pan paniscus of ages ranging from fetus to adult, and\\ud five adult Homo sapiens. Although Pan troglodytes are thought to lack a separate pectoralis abdominis muscle, we...

  11. Correlation of Index Finger Length (2D with Height, Weight and BMI in Adult Bangladeshi Male

    Directory of Open Access Journals (Sweden)

    Karim Rezwan Hasan

    2017-05-01

    Full Text Available Background: Human hand is one of the most versatile parts of the human body which plays an important role in modern medical science and evolutionary biology. By virtue of evolution and genetic arrangements, digital lengths vary from person to person according to age, sex, races, occupation or even environmental influences. It has been found that the digital lengths and their ratios are not same in different sexes and even in both hands of same individual. Specially, index to ring digit lengths and their ratios which already have been proved to represent sexual dimorphism may differ in both hands of an individual and show positive correlations with other morphological attributes like height, weight and BMI. Objectives: To analyze the variation of index finger (2D length and its correlation with height, weight and BMI in adult Bangladeshi male. Materials and Methods: This cross-sectional analytical study was conducted in the department of Anatomy, Dhaka Medical College, Dhaka from July 2012 to June 2013 on 100 male MBBS students (20−25 years of age. With the help of digital vernier caliper measurements of index finger length (2D was recorded. Height and weight were measured by the stadiometer and weighing scale respectively. BMI was calculated from height and weight. Pearson’s correlation analysis was done to find out the correlation of index finger length with height, weight and BMI. Results: Significant correlation has been found between the lengths of index fingers (2D and height (p0.05. Conclusion: In this study, we found variation in index finger lengths of both hands of Bangladeshi male subjects, which needs further study and comparison.

  12. Human-Induced Climate Variations Linked to Urbanization: From Observations to Modeling

    Science.gov (United States)

    Shepherd, J. Marshall; Jin, Menglin

    2004-01-01

    The goal of this session is to bring together scientists from interdisciplinary backgrounds to discuss the data, scientific approaches and recent results focusing on the impact of urbanization on the climate. The discussion will highlight current observational and modeling capabilities being employed for investigating the urban environment and its linkage to the change in the Earth's climate system. The goal of the session is to identify our current stand and the future direction on the topic. Urbanization is one of the extreme cases of land use change. Most of population of the world has moved to urban areas. By 1995, more than 70% of population of North America and Europe were living in cities. By 2025, the United Nations estimates that 60% of the worlds population will live in cities. Although currently only 1.2% of the land is urban, better understanding of how the atmosphere-ocean-land-biosphere components interact as a coupled system and the influence of human activities on this system is critical. Our understanding of urbanization effect is incomplete, partly because human activities induce new changes on climate in addition to the original natural variations, and partly because previously few data available for study urban effect globally. Urban construction changes surface roughness, albedo, heat capacity and vegetation coverage. Traffic and industry increase atmospheric aerosol. It is suggested that urbanization may modify rainfall processes through aerosol-cloud interactions or dynamic feedbacks. Because urbanization effect on climate is determined by many factors including land cover, the city's microscale features, population density, and human lifestyle patterns, it is necessary to study urban areas over globe.

  13. Genetic variation of the RASGRF1 regulatory region affects human hippocampus-dependent memory

    Directory of Open Access Journals (Sweden)

    Adriana eBarman

    2014-04-01

    Full Text Available The guanine nucleotide exchange factor RASGRF1 is an important regulator of intracellular signaling and neural plasticity in the brain. RASGRF1-deficient mice exhibit a complex phenotype with learning deficits and ocular abnormalities. Also in humans, a genome-wide association study has identified the single nucleotide polymorphism (SNP rs8027411 in the putative transcription regulatory region of RASGRF1 as a risk variant of myopia. Here we aimed to assess whether, in line with the RASGRF1 knockout mouse phenotype, rs8027411 might also be associated with human memory function. We performed computer-based neuropsychological learning experiments in two independent cohorts of young, healthy participants. Tests included the Verbal Learning and Memory Test (VLMT and the logical memory section of the Wechsler Memory Scale (WMS. Two sub-cohorts additionally participated in functional magnetic resonance imaging (fMRI studies of hippocampus function. 119 participants performed a novelty encoding task that had previously been shown to engage the hippocampus, and 63 subjects participated in a reward-related memory encoding study. RASGRF1 rs8027411 genotype was indeed associated with memory performance in an allele dosage-dependent manner, with carriers of the T allele (i.e. the myopia risk allele showing better memory performance in the early encoding phase of the VLMT and in the recall phase of the WMS logical memory section. In fMRI, T allele carriers exhibited increased hippocampal activation during presentation of novel images and during encoding of pictures associated with monetary reward. Taken together, our results provide evidence for a role of the RASGRF1 gene locus in hippocampus-dependent memory and, along with the previous association with myopia, point towards pleitropic effects of RASGRF1 genetic variations on complex neural function in humans.

  14. An Analytic Equation Partitioning Climate Variation and Human Impacts on River Sediment Load

    Science.gov (United States)

    Zhang, J.; Gao, G.; Fu, B.

    2017-12-01

    Spatial or temporal patterns and process-based equations could co-exist in hydrologic model. Yet, existing approaches quantifying the impacts of those variables on river sediment load (RSL) changes are found to be severely limited, and new ways to evaluate the contribution of these variables are thus needed. Actually, the Newtonian modeling is hardly achievable for this process due to the limitation of both observations and knowledge of mechanisms, whereas laws based on the Darwinian approach could provide one component of a developed hydrologic model. Since that streamflow is the carrier of suspended sediment, sediment load changes are documented in changes of streamflow and suspended sediment concentration (SSC) - water discharge relationships. Consequently, an analytic equation for river sediment load changes are proposed to explicitly quantify the relative contributions of climate variation and direct human impacts on river sediment load changes. Initially, the sediment rating curve, which is of great significance in RSL changes analysis, was decomposed as probability distribution of streamflow and the corresponding SSC - water discharge relationships at equally spaced discharge classes. Furthermore, a proposed segmentation algorithm based on the fractal theory was used to decompose RSL changes attributed to these two portions. Additionally, the water balance framework was utilized and the corresponding elastic parameters were calculated. Finally, changes in climate variables (i.e. precipitation and potential evapotranspiration) and direct human impacts on river sediment load could be figured out. By data simulation, the efficiency of the segmentation algorithm was verified. The analytic equation provides a superior Darwinian approach partitioning climate and human impacts on RSL changes, as only data series of precipitation, potential evapotranspiration and SSC - water discharge are demanded.

  15. Variations in Glycogen Synthesis in Human Pluripotent Stem Cells with Altered Pluripotent States

    Science.gov (United States)

    Chen, Richard J.; Zhang, Guofeng; Garfield, Susan H.; Shi, Yi-Jun; Chen, Kevin G.; Robey, Pamela G.; Leapman, Richard D.

    2015-01-01

    Human pluripotent stem cells (hPSCs) represent very promising resources for cell-based regenerative medicine. It is essential to determine the biological implications of some fundamental physiological processes (such as glycogen metabolism) in these stem cells. In this report, we employ electron, immunofluorescence microscopy, and biochemical methods to study glycogen synthesis in hPSCs. Our results indicate that there is a high level of glycogen synthesis (0.28 to 0.62 μg/μg proteins) in undifferentiated human embryonic stem cells (hESCs) compared with the glycogen levels (0 to 0.25 μg/μg proteins) reported in human cancer cell lines. Moreover, we found that glycogen synthesis was regulated by bone morphogenetic protein 4 (BMP-4) and the glycogen synthase kinase 3 (GSK-3) pathway. Our observation of glycogen bodies and sustained expression of the pluripotent factor Oct-4 mediated by the potent GSK-3 inhibitor CHIR-99021 reveals an altered pluripotent state in hPSC culture. We further confirmed glycogen variations under different naïve pluripotent cell growth conditions based on the addition of the GSK-3 inhibitor BIO. Our data suggest that primed hPSCs treated with naïve growth conditions acquire altered pluripotent states, similar to those naïve-like hPSCs, with increased glycogen synthesis. Furthermore, we found that suppression of phosphorylated glycogen synthase was an underlying mechanism responsible for altered glycogen synthesis. Thus, our novel findings regarding the dynamic changes in glycogen metabolism provide new markers to assess the energetic and various pluripotent states in hPSCs. The components of glycogen metabolic pathways offer new assays to delineate previously unrecognized properties of hPSCs under different growth conditions. PMID:26565809

  16. Sexual Orientation, Objective Height, and Self-Reported Height.

    Science.gov (United States)

    Skorska, Malvina N; Bogaert, Anthony F

    2017-01-01

    Studies that have used mostly self-reported height have found that androphilic men and women are shorter than gynephilic men and women, respectively. This study examined whether an objective height difference exists or whether a psychosocial account (e.g., distortion of self-reports) may explain these putative height differences. A total of 863 participants, recruited at a Canadian university, the surrounding region, and through lesbian, gay, bisexual, and transgender (LGBT) events across Canada, self-reported their height and had their height measured. Androphilic men were shorter, on average, than gynephilic men. There was no objective height difference between gynephilic, ambiphilic, and androphilic women. Self-reported height, statistically controlling for objective height, was not related to sexual orientation. These findings are the first to show an objective height difference between androphilic and gynephilic men. Also, the findings suggest that previous studies using self-reported height found part of a true objective height difference between androphilic and gynephilic men. These findings have implications for existing biological theories of men's sexual orientation development.

  17. Evaluation of the interindividual human variation in bioactivation of methyleugenol using physiologically based kinetic modeling and Monte Carlo simulations

    Energy Technology Data Exchange (ETDEWEB)

    Al-Subeihi, Ala' A.A., E-mail: subeihi@yahoo.com [Division of Toxicology, Wageningen University, Tuinlaan 5, 6703 HE Wageningen (Netherlands); BEN-HAYYAN-Aqaba International Laboratories, Aqaba Special Economic Zone Authority (ASEZA), P. O. Box 2565, Aqaba 77110 (Jordan); Alhusainy, Wasma; Kiwamoto, Reiko; Spenkelink, Bert [Division of Toxicology, Wageningen University, Tuinlaan 5, 6703 HE Wageningen (Netherlands); Bladeren, Peter J. van [Division of Toxicology, Wageningen University, Tuinlaan 5, 6703 HE Wageningen (Netherlands); Nestec S.A., Avenue Nestlé 55, 1800 Vevey (Switzerland); Rietjens, Ivonne M.C.M.; Punt, Ans [Division of Toxicology, Wageningen University, Tuinlaan 5, 6703 HE Wageningen (Netherlands)

    2015-03-01

    The present study aims at predicting the level of formation of the ultimate carcinogenic metabolite of methyleugenol, 1′-sulfooxymethyleugenol, in the human population by taking variability in key bioactivation and detoxification reactions into account using Monte Carlo simulations. Depending on the metabolic route, variation was simulated based on kinetic constants obtained from incubations with a range of individual human liver fractions or by combining kinetic constants obtained for specific isoenzymes with literature reported human variation in the activity of these enzymes. The results of the study indicate that formation of 1′-sulfooxymethyleugenol is predominantly affected by variation in i) P450 1A2-catalyzed bioactivation of methyleugenol to 1′-hydroxymethyleugenol, ii) P450 2B6-catalyzed epoxidation of methyleugenol, iii) the apparent kinetic constants for oxidation of 1′-hydroxymethyleugenol, and iv) the apparent kinetic constants for sulfation of 1′-hydroxymethyleugenol. Based on the Monte Carlo simulations a so-called chemical-specific adjustment factor (CSAF) for intraspecies variation could be derived by dividing different percentiles by the 50th percentile of the predicted population distribution for 1′-sulfooxymethyleugenol formation. The obtained CSAF value at the 90th percentile was 3.2, indicating that the default uncertainty factor of 3.16 for human variability in kinetics may adequately cover the variation within 90% of the population. Covering 99% of the population requires a larger uncertainty factor of 6.4. In conclusion, the results showed that adequate predictions on interindividual human variation can be made with Monte Carlo-based PBK modeling. For methyleugenol this variation was observed to be in line with the default variation generally assumed in risk assessment. - Highlights: • Interindividual human differences in methyleugenol bioactivation were simulated. • This was done using in vitro incubations, PBK modeling

  18. Evaluation of the interindividual human variation in bioactivation of methyleugenol using physiologically based kinetic modeling and Monte Carlo simulations

    International Nuclear Information System (INIS)

    Al-Subeihi, Ala' A.A.; Alhusainy, Wasma; Kiwamoto, Reiko; Spenkelink, Bert; Bladeren, Peter J. van; Rietjens, Ivonne M.C.M.; Punt, Ans

    2015-01-01

    The present study aims at predicting the level of formation of the ultimate carcinogenic metabolite of methyleugenol, 1′-sulfooxymethyleugenol, in the human population by taking variability in key bioactivation and detoxification reactions into account using Monte Carlo simulations. Depending on the metabolic route, variation was simulated based on kinetic constants obtained from incubations with a range of individual human liver fractions or by combining kinetic constants obtained for specific isoenzymes with literature reported human variation in the activity of these enzymes. The results of the study indicate that formation of 1′-sulfooxymethyleugenol is predominantly affected by variation in i) P450 1A2-catalyzed bioactivation of methyleugenol to 1′-hydroxymethyleugenol, ii) P450 2B6-catalyzed epoxidation of methyleugenol, iii) the apparent kinetic constants for oxidation of 1′-hydroxymethyleugenol, and iv) the apparent kinetic constants for sulfation of 1′-hydroxymethyleugenol. Based on the Monte Carlo simulations a so-called chemical-specific adjustment factor (CSAF) for intraspecies variation could be derived by dividing different percentiles by the 50th percentile of the predicted population distribution for 1′-sulfooxymethyleugenol formation. The obtained CSAF value at the 90th percentile was 3.2, indicating that the default uncertainty factor of 3.16 for human variability in kinetics may adequately cover the variation within 90% of the population. Covering 99% of the population requires a larger uncertainty factor of 6.4. In conclusion, the results showed that adequate predictions on interindividual human variation can be made with Monte Carlo-based PBK modeling. For methyleugenol this variation was observed to be in line with the default variation generally assumed in risk assessment. - Highlights: • Interindividual human differences in methyleugenol bioactivation were simulated. • This was done using in vitro incubations, PBK modeling

  19. Quantitative variation in obesity-related traits and insulin precursors linked to the OB gene region on human chromosome 7

    Energy Technology Data Exchange (ETDEWEB)

    Duggirala, R.; Stern, M.P.; Reinhart, L.J. [Univ. of Texas Health Science Center, San Antonio, TX (United States)] [and others

    1996-09-01

    Despite the evidence that human obesity has strong genetic determinants, efforts at identifying specific genes that influence human obesity have largely been unsuccessful. Using the sibship data obtained from 32 low-income Mexican American pedigrees ascertained on a type II diabetic proband and a multipoint variance-components method, we tested for linkage between various obesity-related traits plus associated metabolic traits and 15 markers on human chromosome 7. We found evidence for linkage between markers in the OB gene region and various traits, as follows: D7S514 and extremity skinfolds (LOD = 3.1), human carboxypeptidase A1 (HCPA1) and 32,33-split proinsulin level (LOD = 4.2), and HCPA1 and proinsulin level (LOD = 3.2). A putative susceptibility locus linked to the marker D7S514 explained 56% of the total phenotypic variation in extremity skinfolds. Variation at the HCPA1 locus explained 64% of phenotypic variation in proinsulin level and {approximately}73% of phenotypic variation in split proinsulin concentration, respectively. Weaker evidence for linkage to several other obesity-related traits (e.g., waist circumference, body-mass index, fat mass by bioimpedance, etc.) was observed for a genetic location, which is {approximately}15 cM telomeric to OB. In conclusion, our study reveals that the OB region plays a significant role in determining the phenotypic variation of both insulin precursors and obesity-related traits, at least in Mexican Americans. 66 refs., 3 figs., 4 tabs.

  20. Application of low background liquid scintillation counting method to pharmacy. Variation of endogenous 14C in human urine

    International Nuclear Information System (INIS)

    Horie, Masanobu; Yanagi, Mashiho; Baba, Shigeo; Kato, Yuka; Yoshimura, Tomoyuki

    2010-01-01

    The intra-day, inter-day and individual variations in endogenous 14 C radioactivity of human urine were studied by use of 5 mL urine. The endogenous 14 C radioactivity of human urine is relatively constant (approximately 1.5 dpm/mL urine). In order to eliminate the effect of endogenous 40 K it is of the greatest importance to count 14 C signal with the optimal window. Since these variations are relatively small, we can estimate correctly the net 14 C activity from the BG value of the same time zone of the day before dosing. (author)

  1. The architecture of gene regulatory variation across multiple human tissues: the MuTHER study.

    Directory of Open Access Journals (Sweden)

    Alexandra C Nica

    2011-02-01

    Full Text Available While there have been studies exploring regulatory variation in one or more tissues, the complexity of tissue-specificity in multiple primary tissues is not yet well understood. We explore in depth the role of cis-regulatory variation in three human tissues: lymphoblastoid cell lines (LCL, skin, and fat. The samples (156 LCL, 160 skin, 166 fat were derived simultaneously from a subset of well-phenotyped healthy female twins of the MuTHER resource. We discover an abundance of cis-eQTLs in each tissue similar to previous estimates (858 or 4.7% of genes. In addition, we apply factor analysis (FA to remove effects of latent variables, thus more than doubling the number of our discoveries (1,822 eQTL genes. The unique study design (Matched Co-Twin Analysis--MCTA permits immediate replication of eQTLs using co-twins (93%-98% and validation of the considerable gain in eQTL discovery after FA correction. We highlight the challenges of comparing eQTLs between tissues. After verifying previous significance threshold-based estimates of tissue-specificity, we show their limitations given their dependency on statistical power. We propose that continuous estimates of the proportion of tissue-shared signals and direct comparison of the magnitude of effect on the fold change in expression are essential properties that jointly provide a biologically realistic view of tissue-specificity. Under this framework we demonstrate that 30% of eQTLs are shared among the three tissues studied, while another 29% appear exclusively tissue-specific. However, even among the shared eQTLs, a substantial proportion (10%-20% have significant differences in the magnitude of fold change between genotypic classes across tissues. Our results underline the need to account for the complexity of eQTL tissue-specificity in an effort to assess consequences of such variants for complex traits.

  2. Diffusion tensor imaging of the human calf: Variation of inter- and intramuscle-specific diffusion parameters.

    Science.gov (United States)

    Schlaffke, Lara; Rehmann, Robert; Froeling, Martijn; Kley, Rudolf; Tegenthoff, Martin; Vorgerd, Matthias; Schmidt-Wilcke, Tobias

    2017-10-01

    To investigate to what extent inter- and intramuscular variations of diffusion parameters of human calf muscles can be explained by age, gender, muscle location, and body mass index (BMI) in a specific age group (20-35 years). Whole calf muscles of 18 healthy volunteers were evaluated. Magnetic resonance imaging (MRI) was performed using a 3T scanner and a 16-channel Torso XL coil. Diffusion-weighted images were acquired to perform fiber tractography and diffusion tensor imaging (DTI) analysis for each muscle of both legs. Fiber tractography was used to separate seven lower leg muscles. Associations between DTI parameters and confounds were evaluated. All muscles were additionally separated in seven identical segments along the z-axis to evaluate intramuscular differences in diffusion parameters. Fractional anisotropy (FA) and mean diffusivity (MD) were obtained for each muscle with low standard deviations (SDs) (SD FA : 0.01-0.02; SD MD : 0.07-0.14(10 -3 )). We found significant differences in FA values of the tibialis anterior muscle (AT) and extensor digitorum longus (EDL) muscles between men and women for whole muscle FA (two-sample t-tests; AT: P = 0.0014; EDL: P = 0.0004). We showed significant intramuscular differences in diffusion parameters between adjacent segments in most calf muscles (P < 0.001). Whereas muscle insertions showed higher (SD 0.03-0.06) than muscle bellies (SD 0.01-0.03), no relationships between FA or MD with age or BMI were found. Inter- and intramuscular variations in diffusion parameters of the calf were shown, which are not related to age or BMI in this age group. Differences between muscle belly and insertion should be considered when interpreting datasets not including whole muscles. 3 Technical Efficacy: Stage 1 J. Magn. Reson. Imaging 2017;46:1137-1148. © 2017 International Society for Magnetic Resonance in Medicine.

  3. Chondrocyte heterogeneity: immunohistologically defined variation of integrin expression at different sites in human fetal knees.

    Science.gov (United States)

    Salter, D M; Godolphin, J L; Gourlay, M S

    1995-04-01

    During development and at maturity different forms of cartilage vary in morphology and macromolecular content. This reflects heterogeneity of chondrocyte activity, in part involving differential interactions with the adjacent extracellular matrix via specialized cell surface receptors such as integrins. We undertook an immunohistological study on a series of human fetal knee joints to assess variation in the expression of integrins by chondrocytes and potential matrix ligands in articular, epiphyseal, growth plate, and meniscal cartilage. The results show that articular chondrocytes (beta 1+, beta 5 alpha V+, alpha 1+, alpha 2+/-, alpha 5+, weakly alpha 6+, alpha V+) differed from epiphyseal (beta 1+, beta 5 alpha V+, alpha 1+/-, alpha 2+/-, alpha 5+, alpha 6+, alpha V+) growth plate (beta 1+, beta 5 alpha V+, alpha 1-, alpha 2-, alpha 5+, alpha 6+, alpha V+), and meniscal cells (beta 1+, beta 5 alpha V+, alpha 1+, strongly alpha 2+, alpha 5+, alpha 6+, alpha V+ in expression of integrin subunits. There was no expression of beta 3, beta 4, beta 6, or alpha 3 by chondrocytes. These results differ from previous reports on the expression of integrins by adult articular cartilage, where alpha 2 and alpha 6 are not seen. Variation in distribution of matrix ligands was also seen. Fibronectin, laminin and Type VI collagen were expressed in all cartilages but there was restricted expression of tenascin, ED-A and ED-B fibronectin isoforms (articular cartilage and meniscus), and vitronectin (absent from growth plate cartilage). Regulated expression of integrins by chondrocytes, associated with changes in the pericellular matrix composition, is of potential importance in control of cartilage differentiation and function in health and disease.

  4. Cultural variation is part of human nature : Literary universals, context-sensitivity, and "shakespeare in the bush".

    Science.gov (United States)

    Sugiyama, Michelle Scalise

    2003-12-01

    In 1966, Laura Bohannan wrote her classic essay challenging the supposition that great literary works speak to universal human concerns and conditions and, by extension, that human nature is the same everywhere. Her evidence: the Tiv of West Africa interpret Hamlet differently from Westerners. While Bohannan's essay implies that cognitive universality and cultural variation are mutually exclusive phenomena, adaptationist theory suggests otherwise. Adaptive problems ("the human condition") and cognitive adaptations ("human nature") are constant across cultures. What differs between cultures is habitat: owing to environmental variation, the means and information relevant to solving adaptive problems differ from place to place. Thus, we find differences between cultures not because human minds differ in design but largely because human habitats differ in resources and history. On this view, we would expect world literature to express both human universals and cultural particularities. Specifically, we should expect to find literary universality at the macro level (e.g., adaptive problems, cognitive adaptations) and literary variation at the micro level (e.g., local solutions to adaptive problems).

  5. Sri Lanka, Colored Height

    Science.gov (United States)

    2005-01-01

    The topography of the island nation of Sri Lanka is well shown in this color-coded shaded relief map generated with digital elevation data from the Shuttle Radar Topography Mission (SRTM). Two visualization methods were combined to produce the image: shading and color coding of topographic height. The shade image was derived by computing topographic slope in the northwest-southeast direction, so that northwest slopes appear bright and southeast slopes appear dark. Color coding is directly related to topographic height, with green at the lower elevations, rising through yellow and tan, to white at the highest elevations. For this special view heights below 10 meters (33 feet) above sea level have been colored red. These low coastal elevations extend 5 to 10 km (3.1 to 6.2 mi) inland on Sri Lanka and are especially vulnerable to flooding associated with storm surges, rising sea level, or, as in the aftermath of the earthquake of December 26, 2004, tsunami. These so-called tidal waves have occurred numerous times in history and can be especially destructive, but with the advent of the near-global SRTM elevation data planners can better predict which areas are in the most danger and help develop mitigation plans in the event of particular flood events. Sri Lanka is shaped like a giant teardrop falling from the southern tip of the vast Indian subcontinent. It is separated from India by the 50km (31mi) wide Palk Strait, although there is a series of stepping-stone coral islets known as Adam's Bridge that almost form a land bridge between the two countries. The island is just 350km (217mi) long and only 180km (112mi) wide at its broadest, and is about the same size as Ireland, West Virginia or Tasmania. The southern half of the island is dominated by beautiful and rugged hill country, and includes Mt Pidurutalagala, the islandaE(TM)s highest point at 2524 meters (8281 ft). The entire northern half comprises a large plain extending from the edge of the hill country to the

  6. Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

    NARCIS (Netherlands)

    B. Giardine (Belinda); J. Borg (Joseph); D.R. Higgs (Douglas); K.R. Peterson (Kenneth R.); J.N.J. Philipsen (Sjaak); D. Maglott (Donna); B.K. Singleton (Belinda K.); D.J. Anstee (David J.); A.N. Basak (Nazli); B.H. Clark (Bruce); F.C. Costa (Flavia C.); P. Faustino (Paula); H. Fedosyuk (Halyna); A.E. Felice (Alex); A. Francina (Alain); R. Galanello (Renzo); M.V.E. Gallivan (Monica V. E.); M. Georgitsi (Marianthi); R.J. Gibbons (Richard J.); P.C. Giordano (Piero Carlo); C.L. Harteveld (Cornelis); J.D. Hoyer (James D.); M. Jarvis (Martin); P. Joly (Philippe); E. Kanavakis (Emmanuel); P. Kollia (Panagoula); S. Menzel (Stephan); W.G. Miller (William); K. Moradkhani (Kamran); J. Old (John); A. Papachatzpoulou (Adamantia); M.N. Papadakis (Manoussos); P. Papadopoulos (Petros); S. Pavlovic (Sonja); L. Perseu (Lucia); M. Radmilovic (Milena); C. Riemer (Cathy); S. Satta (Stefania); I.A. Schrijver (Ingrid); M. Stojiljkovic (Maja); S.L. Thein; J. Traeger-Synodinos (Joanne); R. Tully (Ray); T. Wada (Takahito); J.S. Waye (John); C. Wiemann (Claudia); B. Zukic (Branka); D.H.K. Chui (David H. K.); H. Wajcman (Henri); R. Hardison (Ross); G.P. Patrinos (George)

    2011-01-01

    textabstractWe developed a series of interrelated locus-specific databases to store all published and unpublished genetic variation related to hemoglobinopathies and thalassemia and implemented microattribution to encourage submission of unpublished observations of genetic variation to these public

  7. Variations in riboflavin binding by human plasma: identification of immunoglobulins as the major proteins responsible

    International Nuclear Information System (INIS)

    Innis, W.S.; McCormick, D.B.; Merrill, A.H. Jr.

    1985-01-01

    Riboflavin binding by plasma proteins from healthy human subjects was examined by equilibrium dialysis using a physiological concentration of [2-14C]riboflavin (0.04 microM). Binding ranged from 0.080 to 0.917 pmole of riboflavin/mg of protein (with a mean +/- SD of 0.274 +/- 0.206), which corresponded to 4.14 to 49.4 pmole/ml of plasma (15.5 +/- 11.0) (N = 34). Males and females yielded similar results. Upon fractionation of plasma by gel filtration, the major riboflavin-binding components eluted with albumin and gamma-globulins. Albumin was purified and found to bind riboflavin only very weakly (Kd = 3.8 to 10.4 mM), although FMN and photochemical degradation products (e.g., lumiflavine and lumichrome) were more tightly bound. Binding in the gamma-globulin fraction was attributed to IgG and IGA because the binding protein(s) and immunoglobulins copurified using various methods were removed by treatment of plasma with protein A-agarose, and were coincident upon immunoelectrophoresis followed by autoradiography to detect [2-14C]riboflavin. Differences among the plasma samples correlated with the binding recovered with the immunoglobulins. Binding was not directly related to the total IgG or IgA levels of subjects. Hence, it appears that the binding is due to a subfraction of these proteins. These findings suggest that riboflavin-binding immunoglobulins are a major cause of variations in riboflavin binding in human circulation, and may therefore affect the utilization of this micronutrient

  8. Human Genetic Variation and Yellow Fever Mortality during 19th Century U.S. Epidemics

    Science.gov (United States)

    2014-01-01

    ABSTRACT We calculated the incidence, mortality, and case fatality rates for Caucasians and non-Caucasians during 19th century yellow fever (YF) epidemics in the United States and determined statistical significance for differences in the rates in different populations. We evaluated nongenetic host factors, including socioeconomic, environmental, cultural, demographic, and acquired immunity status that could have influenced these differences. While differences in incidence rates were not significant between Caucasians and non-Caucasians, differences in mortality and case fatality rates were statistically significant for all epidemics tested (P < 0.01). Caucasians diagnosed with YF were 6.8 times more likely to succumb than non-Caucasians with the disease. No other major causes of death during the 19th century demonstrated a similar mortality skew toward Caucasians. Nongenetic host factors were examined and could not explain these large differences. We propose that the remarkably lower case mortality rates for individuals of non-Caucasian ancestry is the result of human genetic variation in loci encoding innate immune mediators. PMID:24895309

  9. Rare and common regulatory variation in population-scale sequenced human genomes.

    Directory of Open Access Journals (Sweden)

    Stephen B Montgomery

    2011-07-01

    Full Text Available Population-scale genome sequencing allows the characterization of functional effects of a broad spectrum of genetic variants underlying human phenotypic variation. Here, we investigate the influence of rare and common genetic variants on gene expression patterns, using variants identified from sequencing data from the 1000 genomes project in an African and European population sample and gene expression data from lymphoblastoid cell lines. We detect comparable numbers of expression quantitative trait loci (eQTLs when compared to genotypes obtained from HapMap 3, but as many as 80% of the top expression quantitative trait variants (eQTVs discovered from 1000 genomes data are novel. The properties of the newly discovered variants suggest that mapping common causal regulatory variants is challenging even with full resequencing data; however, we observe significant enrichment of regulatory effects in splice-site and nonsense variants. Using RNA sequencing data, we show that 46.2% of nonsynonymous variants are differentially expressed in at least one individual in our sample, creating widespread potential for interactions between functional protein-coding and regulatory variants. We also use allele-specific expression to identify putative rare causal regulatory variants. Furthermore, we demonstrate that outlier expression values can be due to rare variant effects, and we approximate the number of such effects harboured in an individual by effect size. Our results demonstrate that integration of genomic and RNA sequencing analyses allows for the joint assessment of genome sequence and genome function.

  10. Few single nucleotide variations in exomes of human cord blood induced pluripotent stem cells.

    Directory of Open Access Journals (Sweden)

    Rui-Jun Su

    Full Text Available The effect of the cellular reprogramming process per se on mutation load remains unclear. To address this issue, we performed whole exome sequencing analysis of induced pluripotent stem cells (iPSCs reprogrammed from human cord blood (CB CD34(+ cells. Cells from a single donor and improved lentiviral vectors for high-efficiency (2-14% reprogramming were used to examine the effects of three different combinations of reprogramming factors: OCT4 and SOX2 (OS, OS and ZSCAN4 (OSZ, OS and MYC and KLF4 (OSMK. Five clones from each group were subject to whole exome sequencing analysis. We identified 14, 11, and 9 single nucleotide variations (SNVs, in exomes, including untranslated regions (UTR, in the five clones of OSMK, OS, and OSZ iPSC lines. Only 8, 7, and 4 of these, respectively, were protein-coding mutations. An average of 1.3 coding mutations per CB iPSC line is remarkably lower than previous studies using fibroblasts and low-efficiency reprogramming approaches. These data demonstrate that point nucleotide mutations during cord blood reprogramming are negligible and that the inclusion of genome stabilizers like ZSCAN4 during reprogramming may further decrease reprogramming-associated mutations. Our findings provide evidence that CB is a superior source of cells for iPSC banking.

  11. Quantitative Susceptibility Mapping of Human Brain Reflects Spatial Variation in Tissue Composition

    Science.gov (United States)

    Li, Wei; Wu, Bing; Liu, Chunlei

    2011-01-01

    Image phase from gradient echo MRI provides a unique contrast that reflects brain tissue composition variations, such as iron and myelin distribution. Phase imaging is emerging as a powerful tool for the investigation of functional brain anatomy and disease diagnosis. However, the quantitative value of phase is compromised by its nonlocal and orientation dependent properties. There is an increasing need for reliable quantification of magnetic susceptibility, the intrinsic property of tissue. In this study, we developed a novel and accurate susceptibility mapping method that is also phase-wrap insensitive. The proposed susceptibility mapping method utilized two complementary equations: (1) the Fourier relationship of phase and magnetic susceptibility; and (2) the first-order partial derivative of the first equation in the spatial frequency domain. In numerical simulation, this method reconstructed the susceptibility map almost free of streaking artifact. Further, the iterative implementation of this method allowed for high quality reconstruction of susceptibility maps of human brain in vivo. The reconstructed susceptibility map provided excellent contrast of iron-rich deep nuclei and white matter bundles from surrounding tissues. Further, it also revealed anisotropic magnetic susceptibility in brain white matter. Hence, the proposed susceptibility mapping method may provide a powerful tool for the study of brain physiology and pathophysiology. Further elucidation of anisotropic magnetic susceptibility in vivo may allow us to gain more insight into the white matter microarchitectures. PMID:21224002

  12. Promise and Capability of NASA's Earth Observing System to Monitor Human-Induced Climate Variations

    Science.gov (United States)

    King, M. D.

    2003-01-01

    The Earth Observing System (EOS) is a space-based observing system comprised of a series of satellite sensors by which scientists can monitor the Earth, a Data and Information System (EOSDIS) enabling researchers worldwide to access the satellite data, and an interdisciplinary science research program to interpret the satellite data. The Moderate Resolution Imaging Spectroradiometer (MODIS), developed as part of the Earth Observing System (EOS) and launched on Terra in December 1999 and Aqua in May 2002, is designed to meet the scientific needs for satellite remote sensing of clouds, aerosols, water vapor, and land and ocean surface properties. This sensor and multi-platform observing system is especially well suited to observing detailed interdisciplinary components of the Earth s surface and atmosphere in and around urban environments, including aerosol optical properties, cloud optical and microphysical properties of both liquid water and ice clouds, land surface reflectance, fire occurrence, and many other properties that influence the urban environment and are influenced by them. In this presentation I will summarize the current capabilities of MODIS and other EOS sensors currently in orbit to study human-induced climate variations.

  13. Blood flow variation in human muscle during electrically stimulated exercise bouts.

    Science.gov (United States)

    Vanderthommen, Marc; Depresseux, Jean-Claude; Dauchat, Luc; Degueldre, Christian; Croisier, Jean-Louis; Crielaard, Jean-Michel

    2002-07-01

    To evaluate, with a high spatial resolution, the blood flow variations in human skeletal muscle during neuromuscular electric stimulation (NMES) and hence to gain better understanding of the mechanisms of muscle spatial recruitment during NMES. One thigh was submitted to 3 stimulation bouts of different durations (S1=4min, S2=8min, S3=12min) with a workload corresponding to 10% of quadriceps maximal isometric voluntary torque. A cyclotron research center at a Belgian university. Ten healthy male volunteers. Not applicable. Participants were studied with positron emission tomography and H(2)(15)O. Tissue blood flow was evaluated during the last 4 minutes of each stimulation bout in multiple regions of interest (ROIs) selected in the transverse section of the stimulated thigh. Mean tissue blood flow was significantly lower during S1 (5.9+/-1.3mL. min(-1). 100g(-1)) than during S2 (10.6+/-3.4mL. min(-1). 100g(-1)) and S3 (11.6+/-3.7mL. min(-1). 100g(-1)) (Precruited ROIs were preferentially located far from the electrode. During NMES, new muscular regions situated far from the stimulation site are recruited. These recruitment mechanisms are particular and contrast with the recruitment of motor units seen during voluntary contraction. Copyright 2002 by the American Congress of Rehabilitation Medicine and the American Academy of Physical Medicine and Rehabilitation

  14. Height premium for job performance.

    Science.gov (United States)

    Kim, Tae Hyun; Han, Euna

    2017-08-01

    This study assessed the relationship of height with wages, using the 1998 and 2012 Korean Labor and Income Panel Study data. The key independent variable was height measured in centimeters, which was included as a series of dummy indicators of height per 5cm span (wages to assess the heterogeneity in the height-wage relationship, across the conditional distribution of monthly wages. We found a non-linear relationship of height with monthly wages. For men, the magnitude of the height wage premium was overall larger at the upper quantile of the conditional distribution of log monthly wages than at the median to low quantile, particularly in professional and semi-professional occupations. The height-wage premium was also larger at the 90th quantile for self-employed women and salaried men. Our findings add a global dimension to the existing evidence on height-wage premium, demonstrating non-linearity in the association between height and wages and heterogeneous changes in the dispersion and direction of the association between height and wages, by wage level. Copyright © 2017 Elsevier B.V. All rights reserved.

  15. Initial studies on the variations of load-displacement curves of in vivo human healthy heel pads

    DEFF Research Database (Denmark)

    Matteoli, Sara; Wilhjelm, Jens E.; Virga, Antonio

    2011-01-01

    The aim of this study was to quantify on the measurement variation of in vivo load-displacement curves by using a group of human healthy heel pads. The recordings were done with a compression device measuring force and displacement. Twenty three heel pads, one from each of 23 subjects aged 20...

  16. Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation

    NARCIS (Netherlands)

    Homburger, J.R. (Julian R.); Green, E.M. (Eric M.); Caleshu, C. (Colleen); Sunitha, M.S. (Margaret S.); Taylor, R.E. (Rebecca E.); Ruppel, K.M. (Kathleen M.); Metpally, R.P.R. (Raghu Prasad Rao); S.D. Colan (Steven); M. Michels (Michelle); Day, S.M. (Sharlene M.); I. Olivotto (Iacopo); Bustamante, C.D. (Carlos D.); Dewey, F.E. (Frederick E.); Ho, C.Y. (Carolyn Y.); Spudich, J.A. (James A.); Ashley, E.A. (Euan A.)

    2016-01-01

    textabstractMyosin motors are the fundamental force-generating elements of muscle contraction. Variation in the human β-cardiac myosin heavy chain gene (MYH7) can lead to hypertrophic cardiomyopathy (HCM), a heritable disease characterized by cardiac hypertrophy, heart failure, and sudden cardiac

  17. More practical critical height sampling.

    Science.gov (United States)

    Thomas B. Lynch; Jeffrey H. Gove

    2015-01-01

    Critical Height Sampling (CHS) (Kitamura 1964) can be used to predict cubic volumes per acre without using volume tables or equations. The critical height is defined as the height at which the tree stem appears to be in borderline condition using the point-sampling angle gauge (e.g. prism). An estimate of cubic volume per acre can be obtained from multiplication of the...

  18. Height-Deterministic Pushdown Automata

    DEFF Research Database (Denmark)

    Nowotka, Dirk; Srba, Jiri

    2007-01-01

    We define the notion of height-deterministic pushdown automata, a model where for any given input string the stack heights during any (nondeterministic) computation on the input are a priori fixed. Different subclasses of height-deterministic pushdown automata, strictly containing the class...... of regular languages and still closed under boolean language operations, are considered. Several of such language classes have been described in the literature. Here, we suggest a natural and intuitive model that subsumes all the formalisms proposed so far by employing height-deterministic pushdown automata...

  19. Unified height systems after GOCE

    Science.gov (United States)

    Rummel, Reiner; Gruber, Thomas; Sideris, Michael; Rangelova, Elena; Woodworth, Phil; Hughes, Chris; Ihde, Johannes; Liebsch, Gunter; Rülke, Axel; Gerlach, Christian; Haagmans, Roger

    2015-04-01

    The objectives of global height unification are twofold, (1) the realization of accurate geopotential numbers C together with their standard deviation σ(C) at a selected set of stations (datum points of national height systems, geodetic fundamental stations (IERS), primary tide gauges (PSMSL) and primary reference clocks (IERS)) and (2) the determination of height off-sets between all existing regional/national height systems and one global height reference. In the future the primary method of height determination will be GPS-levelling with very stringent requirements concerning the consistency of the positioning and the gravity potential difference part. Consistency is required in terms of the applied standards (ITRF, zero tide system, geodetic reference system). Geopotential differences will be based on a next generation geopotential model combining GOCE and GRACE and a best possible collection of global terrestrial and altimetric gravity and topographic data. Ultimately, the envisaged accuracy of height unification is about 10 cm2/s2 (or 1cm). At the moment, in well surveyed regions, an accuracy of about 40 to 60 cm2/s2 (or 4 to 6cm) is attainable. Objective One can be realized by straight forward computation of geopotential numbers C, i.e. geopotential differences relative to an adopted height reference. No adjustment is required for this. Objective Two, the unification of existing height systems is achieved by employing a least-squares adjustment based on the GBVP-approach. In order to attain a non-singular solution, this requires for each included datum zone at least one geo-referenced station per zone, i.e. its ellipsoidal height h and, in addition, the corresponding physical height H (geopotential number, normal height, orthometric height, etc.). Changes in geopotential numbers of consecutive realizations reflect (1) temporal changes of station heights, (2) improvements or changes of the applied geopotential (or geoid) model and (3) improvements of the

  20. Agreement between measured height, and height predicted from ...

    African Journals Online (AJOL)

    lower limb measurements, such as knee height, as well as upper limb measures ... had with bone injuries/fractures affecting height or ulna length; and n = 1 had a ... and heels, buttocks and upper back in contact with the vertical surface of the .... found striking similarity in linear growth of infants to five-year- olds among all ...

  1. Circadian variations of interferon-induced enhancement of human natural killer (NK) cell activity.

    Science.gov (United States)

    Gatti, G; Cavallo, R; Sartori, M L; Carignola, R; Masera, R; Delponte, D; Salvadori, A; Angeli, A

    1988-01-01

    We searched for circadian changes in the enhancement of the NK activity after exposure to IFN-gamma of peripheral blood mononuclear (PBM) cells obtained serially throughout the 24-h cycle. In August-October 1986, blood was drawn from 7 healthy, diurnally active and nocturnally resting male volunteers (22-34 yr) at 4-h intervals for 24 h starting at 08:00. PBM cells were immediately separated and assayed for NK cell activity, using K 562 cultured cells as a target in a 4-h 51Cr release assay after prior incubation for 20 h with buffer or 300 IU rIFN-gamma. Circadian variations of the spontaneous NK cell cytotoxicity were apparent; the activity was at its maximum at the end of the night or in the early morning and then declined in the afternoon. The 24-h rhythmic pattern was validated with statistical significance by the Cosinor method (p less than 0.02; acrophase 04:22). Maximum enhancement by IFN-gamma was attained in the second part of the night or in the early morning, i.e. in phase with the peak of the spontaneous NK cell activity. A significant circadian rhythm of the percent increase above control levels was validated by the Cosinor method (p less than 0.01; acrophase 04:03). Our findings may be of relevance to a better understanding of the mechanisms of control of human NK activity and warrant consideration as an approach to improve the effectiveness of time-qualified immunotherapy.

  2. Diurnal Variations of Human Circulating Cell-Free Micro-RNA.

    Directory of Open Access Journals (Sweden)

    Niels H H Heegaard

    Full Text Available A 24-hour light and dark cycle-dependent rhythmicity pervades physiological processes in virtually all living organisms including humans. These regular oscillations are caused by external cues to endogenous, independent biological time-keeping systems (clocks. The rhythm is reflected by gene expression that varies in a circadian and specific fashion in different organs and tissues and is regulated largely by dynamic epigenetic and post-transcriptional mechanisms. This leads to well-documented oscillations of specific electrolytes, hormones, metabolites, and plasma proteins in blood samples. An emerging, important class of gene regulators is short single-stranded RNA (micro-RNA, miRNA that interferes post-transcriptionally with gene expression and thus may play a role in the circadian variation of gene expression. MiRNAs are promising biomarkers by virtue of their disease-specific tissue expression and because of their presence as stable entities in the circulation. However, no studies have addressed the putative circadian rhythmicity of circulating, cell-free miRNAs. This question is important both for using miRNAs as biological markers and for clues to miRNA function in the regulation of circadian gene expression. Here, we investigate 92 miRNAs in plasma samples from 24 young male, healthy volunteers repeatedly sampled 9 times during a 24-hour stay in a regulated environment. We demonstrate that a third (26/79 of the measurable plasma miRNAs (using RT-qPCR on a microfluidic system exhibit a rhythmic behavior and are distributed in two main phase patterns. Some of these miRNAs weakly target known clock genes and many have strong targets in intracellular MAPK signaling pathways. These novel findings highlight the importance of considering bio-oscillations in miRNA biomarker studies and suggest the further study of a set of specific circulating miRNAs in the regulation and functioning of biological clocks.

  3. Diurnal variation of the human adipose transcriptome and the link to metabolic disease

    Directory of Open Access Journals (Sweden)

    Lamb John

    2009-02-01

    Full Text Available Abstract Background Circadian (diurnal rhythm is an integral part of the physiology of the body; specifically, sleep, feeding behavior and metabolism are tightly linked to the light-dark cycle dictated by earth's rotation. Methods The present study examines the effect of diurnal rhythm on gene expression in the subcutaneous adipose tissue of overweight to mildly obese, healthy individuals. In this well-controlled clinical study, adipose biopsies were taken in the morning, afternoon and evening from individuals in three study arms: treatment with the weight loss drug sibutramine/fasted, placebo/fed and placebo/fasted. Results The results indicated that diurnal rhythm was the most significant driver of gene expression variation in the human adipose tissue, with at least 25% of the genes having had significant changes in their expression levels during the course of the day. The mRNA expression levels of core clock genes at a specific time of day were consistent across multiple subjects on different days in all three arms, indicating robust diurnal regulation irrespective of potential confounding factors. The genes essential for energy metabolism and tissue physiology were part of the diurnal signature. We hypothesize that the diurnal transition of the expression of energy metabolism genes reflects the shift in the adipose tissue from an energy-expending state in the morning to an energy-storing state in the evening. Consistent with this hypothesis, the diurnal transition was delayed by fasting and treatment with sibutramine. Finally, an in silico comparison of the diurnal signature with data from the publicly-available Connectivity Map demonstrated a significant association with transcripts that were repressed by mTOR inhibitors, suggesting a possible link between mTOR signaling, diurnal gene expression and metabolic regulation. Conclusion Diurnal rhythm plays an important role in the physiology and regulation of energy metabolism in the adipose

  4. Loss of variation of state detected in soybean metabolic and human myelomonocytic leukaemia cell transcriptional networks under external stimuli

    KAUST Repository

    Sakata, Katsumi

    2016-10-24

    Soybean (Glycine max) is sensitive to flooding stress, and flood damage at the seedling stage is a barrier to growth. We constructed two mathematical models of the soybean metabolic network, a control model and a flooded model, from metabolic profiles in soybean plants. We simulated the metabolic profiles with perturbations before and after the flooding stimulus using the two models. We measured the variation of state that the system could maintain from a state–space description of the simulated profiles. The results showed a loss of variation of state during the flooding response in the soybean plants. Loss of variation of state was also observed in a human myelomonocytic leukaemia cell transcriptional network in response to a phorbol-ester stimulus. Thus, we detected a loss of variation of state under external stimuli in two biological systems, regardless of the regulation and stimulus types. Our results suggest that a loss of robustness may occur concurrently with the loss of variation of state in biological systems. We describe the possible applications of the quantity of variation of state in plant genetic engineering and cell biology. Finally, we present a hypothetical “external stimulus-induced information loss” model of biological systems.

  5. Loss of variation of state detected in soybean metabolic and human myelomonocytic leukaemia cell transcriptional networks under external stimuli

    KAUST Repository

    Sakata, Katsumi; Saito, Toshiyuki; Ohyanagi, Hajime; Okumura, Jun; Ishige, Kentaro; Suzuki, Harukazu; Nakamura, Takuji; Komatsu, Setsuko

    2016-01-01

    Soybean (Glycine max) is sensitive to flooding stress, and flood damage at the seedling stage is a barrier to growth. We constructed two mathematical models of the soybean metabolic network, a control model and a flooded model, from metabolic profiles in soybean plants. We simulated the metabolic profiles with perturbations before and after the flooding stimulus using the two models. We measured the variation of state that the system could maintain from a state–space description of the simulated profiles. The results showed a loss of variation of state during the flooding response in the soybean plants. Loss of variation of state was also observed in a human myelomonocytic leukaemia cell transcriptional network in response to a phorbol-ester stimulus. Thus, we detected a loss of variation of state under external stimuli in two biological systems, regardless of the regulation and stimulus types. Our results suggest that a loss of robustness may occur concurrently with the loss of variation of state in biological systems. We describe the possible applications of the quantity of variation of state in plant genetic engineering and cell biology. Finally, we present a hypothetical “external stimulus-induced information loss” model of biological systems.

  6. Height and Tilt Geometric Texture

    DEFF Research Database (Denmark)

    Andersen, Vedrana; Desbrun, Mathieu; Bærentzen, Jakob Andreas

    2009-01-01

    compromise between functionality and simplicity: it can efficiently handle and process geometric texture too complex to be represented as a height field, without having recourse to full blown mesh editing algorithms. The height-and-tilt representation proposed here is fully intrinsic to the mesh, making...

  7. Fluctuations in Schottky barrier heights

    International Nuclear Information System (INIS)

    Mahan, G.D.

    1984-01-01

    A double Schottky barrier is often formed at the grain boundary in polycrystalline semiconductors. The barrier height is shown to fluctuate in value due to the random nature of the impurity positions. The magnitude of the fluctuations is 0.1 eV, and the fluctuations cause the barrier height measured by capacitance to differ from the one measured by electrical conductivity

  8. A GEOMETRICAL HEIGHT SCALE FOR SUNSPOT PENUMBRAE

    International Nuclear Information System (INIS)

    Puschmann, K. G.; Ruiz Cobo, B.; MartInez Pillet, V.

    2010-01-01

    Inversions of spectropolarimetric observations of penumbral filaments deliver the stratification of different physical quantities in an optical depth scale. However, without establishing a geometrical height scale, their three-dimensional geometrical structure cannot be derived. This is crucial in understanding the correct spatial variation of physical properties in the penumbral atmosphere and to provide insights into the mechanism capable of explaining the observed penumbral brightness. The aim of this work is to determine a global geometrical height scale in the penumbra by minimizing the divergence of the magnetic field vector and the deviations from static equilibrium as imposed by a force balance equation that includes pressure gradients, gravity, and the Lorentz force. Optical depth models are derived from the inversion of spectropolarimetric data of an active region observed with the Solar Optical Telescope on board the Hinode satellite. We use a genetic algorithm to determine the boundary condition for the inference of geometrical heights. The retrieved geometrical height scale permits the evaluation of the Wilson depression at each pixel and the correlation of physical quantities at each height. Our results fit into the uncombed penumbral scenario, i.e., a penumbra composed of flux tubes with channeled mass flow and with a weaker and more horizontal magnetic field as compared with the background field. The ascending material is hotter and denser than their surroundings. We do not find evidence of overturning convection or field-free regions in the inner penumbral area analyzed. The penumbral brightness can be explained by the energy transfer of the ascending mass carried by the Evershed flow, if the physical quantities below z = -75 km are extrapolated from the results of the inversion.

  9. Genetics in endocrinology: genetic variation in deiodinases: a systematic review of potential clinical effects in humans

    NARCIS (Netherlands)

    Verloop, H.; Dekkers, O.M.; Peeters, R.P.; Schoones, J.W.; Smit, J.W.

    2014-01-01

    Iodothyronine deiodinases represent a family of selenoproteins involved in peripheral and local homeostasis of thyroid hormone action. Deiodinases are expressed in multiple organs and thyroid hormone affects numerous biological systems, thus genetic variation in deiodinases may affect multiple

  10. Circle of willis and its variations; morphometric study in adult human cadavers

    OpenAIRE

    Raghavendra, Shirol VS, Daksha Dixit, Anil Kumar Reddy Y, Desai SP

    2014-01-01

    Background and Objectives: Circle of Willis plays a vital role in collateral circulation and redistribution of blood to all areas of the brain. Variation in circle of Willis is known to cause grave disorders like cerebrovascular disorders, subarachnoid haemorrhage, cerebral aneurysm and schizophrenia. The objectives of the present study are to study the formation and branching pattern of circle of Willis and also to study the distribution of variations. MATERIALS & Methods: The study was cond...

  11. Inter-individual and inter-cell type variation in residual DNA damage after in vivo irradiation of human skin

    International Nuclear Information System (INIS)

    Chua, Melvin Lee Kiang; Somaiah, Navita; Bourne, Sara; Daley, Frances; A'Hern, Roger; Nuta, Otilia; Davies, Sue; Herskind, Carsten; Pearson, Ann; Warrington, Jim; Helyer, Sarah; Owen, Roger; Yarnold, John; Rothkamm, Kai

    2011-01-01

    Purpose: The aim of this study was to compare inter-individual and inter-cell type variation in DNA double-strand break (DSB) repair following in vivo irradiation of human skin. Materials and methods: Duplicate 4 mm core biopsies of irradiated and unirradiated skin were collected from 35 patients 24 h after 4 Gy exposure using 6 MeV electrons. Residual DSB were quantified by scoring 53BP1 foci in dermal fibroblasts, endothelial cells, superficial keratinocytes and basal epidermal cells. Results: Coefficients of inter-individual variation for levels of residual foci 24 h after in vivo irradiation of skin were 39.9% in dermal fibroblasts, 44.3% in endothelial cells, 32.9% in superficial keratinocytes and 46.4% in basal epidermal cells (p < 0.001, ANOVA). In contrast, the coefficient of inter-cell type variation for residual foci levels was only 11.3% in human skin between the different epidermal and dermal cells (p = 0.034, ANOVA). Foci levels between the different skin cell types were correlated (Pearson's R = 0.855-0.955, p < 0.001). Conclusions: Patient-specific factors appear to be more important than cell type-specific factors in determining residual foci levels following in vivo irradiation of human skin.

  12. Conservation reaches new heights.

    Science.gov (United States)

    Pepall, J; Khanal, P

    1992-10-01

    The conservation program with the management assistance of the Woodlands Mountain Institute in 2 contiguous parks, the Mount Everest National Park in Nepal and the Qomolangma Nature Reserve in China, in 2 countries is described. The focus is on conservation of the complex ecosystem with sustainable development by showing local people how to benefit from the park without environmental damage. Cultural diversity is as important as biological diversity. The area has been designated by UNESCO as a World Heritage Site with the "last pure ecological seed" of the Himalayas. The regional geography and culture are presented. Population growth has impacted natural resources through overgrazing, cultivation of marginal land, and deforestation; future plans to build a dam and road bordering the nature reserve pose other threats. Proposed management plans for the Makalu-Barun Nature Park (established in November 1991) and Conservation Area include a division of the park into nature reserve areas free of human activity, protected areas which permit traditional land use, and special sites and trail for tourists and religious pilgrims. The conservation area will act as a buffer for the park and provide economic opportunities; further subdivisions include land use for biodiversity protection, community forest and pasture, agroforestry, and agriculture and settlement. Efforts will be made to increase the welfare of women and local people; proposed projects include the introduction of higher milk-producing animals for stall feeding. Also proposed is a cultural and natural history museum. 70% of the project's resources will be directed to local community participation in consultation and park maintenance. The project is a model of how conservation and protection of natural resources can coexist with local economic development and participation; an integration of preservation of biological diversity, mountain wisdom, and the value of local people as resources for conservation.

  13. Footprint parameters as a measure of arch height.

    Science.gov (United States)

    Hawes, M R; Nachbauer, W; Sovak, D; Nigg, B M

    1992-01-01

    The human foot has frequently been categorized into arch height groups based upon analysis of footprint parameters. This study investigates the relationship between directly measured arch height and many of the footprint parameters that have been assumed to represent arch height. A total of 115 male subjects were measured and footprint parameters were calculated from digitized outlines. Correlation and regression analyses were used to determine the relationship between footprint measures and arch height. It may be concluded from the results that footprint parameters proposed in the literature (arch angle, footprint index, and arch index) and two further parameters suggested in this study (arch length index and truncated arch index) are invalid as a basis for prediction or categorization of arch height. The categorization of the human foot according to the footprint measures evaluated in this paper represent no more than indices and angles of the plantar surface of the foot itself.

  14. Circle of willis and its variations; morphometric study in adult human cadavers

    Directory of Open Access Journals (Sweden)

    Raghavendra, Shirol VS, Daksha Dixit, Anil Kumar Reddy Y, Desai SP

    2014-04-01

    Full Text Available Background and Objectives: Circle of Willis plays a vital role in collateral circulation and redistribution of blood to all areas of the brain. Variation in circle of Willis is known to cause grave disorders like cerebrovascular disorders, subarachnoid haemorrhage, cerebral aneurysm and schizophrenia. The objectives of the present study are to study the formation and branching pattern of circle of Willis and also to study the distribution of variations. MATERIALS & Methods: The study was conducted on 50 adult brain specimens. Each brain was removed in one piece by dissection and the circle of Willis was observed for its formation, pattern and variations. Results: Among the 50 specimens studied, 28 cases (56% had a normal pattern of circle of Willis and variations were observed in the remaining 22 cases (44%. More number of variations was observed on the right side than on the left side. The most common variation observed was hypoplastic posterior communicating artery (7 cases, 31.8%. Posterior communicating artery was found to be the most variable vessel while middle cerebral artery was the least variable vessel. Interpretation and Conclusion: The results with respect to the circle of Willis and all its component arteries were consistent with the results in the available literature. The only exception was the increased incidence of absence of both the anterior and posterior communicating arteries. This finding is of clinical significance to neurologists and neurosurgeons in this geographical location of north Karnataka. A higher incidence of variations in the communicating arteries is likely to manifest as a higher incidence in disorders like migraine, schizophrenia and cerebrovascular disorders due to compromised collateral circulation and poor redistribution of blood.

  15. mtDNA variation predicts population size in humans and reveals a major Southern Asian chapter in human prehistory.

    Science.gov (United States)

    Atkinson, Quentin D; Gray, Russell D; Drummond, Alexei J

    2008-02-01

    The relative timing and size of regional human population growth following our expansion from Africa remain unknown. Human mitochondrial DNA (mtDNA) diversity carries a legacy of our population history. Given a set of sequences, we can use coalescent theory to estimate past population size through time and draw inferences about human population history. However, recent work has challenged the validity of using mtDNA diversity to infer species population sizes. Here we use Bayesian coalescent inference methods, together with a global data set of 357 human mtDNA coding-region sequences, to infer human population sizes through time across 8 major geographic regions. Our estimates of relative population sizes show remarkable concordance with the contemporary regional distribution of humans across Africa, Eurasia, and the Americas, indicating that mtDNA diversity is a good predictor of population size in humans. Plots of population size through time show slow growth in sub-Saharan Africa beginning 143-193 kya, followed by a rapid expansion into Eurasia after the emergence of the first non-African mtDNA lineages 50-70 kya. Outside Africa, the earliest and fastest growth is inferred in Southern Asia approximately 52 kya, followed by a succession of growth phases in Northern and Central Asia (approximately 49 kya), Australia (approximately 48 kya), Europe (approximately 42 kya), the Middle East and North Africa (approximately 40 kya), New Guinea (approximately 39 kya), the Americas (approximately 18 kya), and a second expansion in Europe (approximately 10-15 kya). Comparisons of relative regional population sizes through time suggest that between approximately 45 and 20 kya most of humanity lived in Southern Asia. These findings not only support the use of mtDNA data for estimating human population size but also provide a unique picture of human prehistory and demonstrate the importance of Southern Asia to our recent evolutionary past.

  16. [Influence of disc height on outcome of posterolateral fusion].

    Science.gov (United States)

    Drain, O; Lenoir, T; Dauzac, C; Rillardon, L; Guigui, P

    2008-09-01

    Experimentally, posterolateral fusion only provides incomplete control of flexion-extension, rotation and lateral inclination forces. The stability deficit increases with increasing height of the anterior intervertebral space, which for some warrants the adjunction of an intersomatic arthrodesis in addition to the posterolateral graft. Few studies have been devoted to the impact of disc height on the outcome of posterolateral fusion. The purpose of this work was to investigate the spinal segment immobilized by the posterolateral fusion: height of the anterior intervertebral space, the clinical and radiographic impact of changes in disc height, and the short- and long-term impact of disc height measured preoperatively on clinical and radiographic outcome. In order to obtain a homogeneous group of patients, the series was limited to patients undergoing posterolateral arthrodesis for degenerative spondylolisthesis, in combination with radicular release. This was a retrospective analysis of a consecutive series of 66 patients with mean 52 months follow-up (range 3-63 months). A dedicated self-administered questionnaire was used to collect data on pre- and postoperative function, the SF-36 quality of life score, and patient satisfaction. Pre- and postoperative (early, one year, last follow-up) radiographic data were recorded: olisthesic level, disc height, intervertebral angle, intervertebral mobility (angular, anteroposterior), and global measures of sagittal balance (thoracic kyphosis, lumbar lordosis, T9 sagittal tilt, pelvic version, pelvic incidence, sacral slope). SpineView was used for all measures. Univariate analysis searched for correlations between variation in disc height and early postoperative function and quality of fusion at last follow-up. Multivariate analysis was applied to the following preoperative parameters: intervertebral angle, disc height, intervertebral mobility, sagittal balance parameters, use of osteosynthesis or not. At the olisthesic

  17. Absence of diurnal variation of C-reactive protein concentrations in healthy human subjects

    Science.gov (United States)

    Meier-Ewert, H. K.; Ridker, P. M.; Rifai, N.; Price, N.; Dinges, D. F.; Mullington, J. M.

    2001-01-01

    BACKGROUND: The concentration of C-reactive protein (CRP) in otherwise healthy subjects has been shown to predict future risk of myocardial infarction and stroke. CRP is synthesized by the liver in response to interleukin-6, the serum concentration of which is subject to diurnal variation. METHODS: To examine the existence of a time-of-day effect for baseline CRP values, we determined CRP concentrations in hourly blood samples drawn from healthy subjects (10 males, 3 females; age range, 21-35 years) during a baseline day in a controlled environment (8 h of nighttime sleep). RESULTS: Overall CRP concentrations were low, with only three subjects having CRP concentrations >2 mg/L. Comparison of raw data showed stability of CRP concentrations throughout the 24 h studied. When compared with cutoff values of CRP quintile derived from population-based studies, misclassification of greater than one quintile did not occur as a result of diurnal variation in any of the subjects studied. Nonparametric ANOVA comparing different time points showed no significant differences for both raw and z-transformed data. Analysis for rhythmic diurnal variation using a method fitting a cosine curve to the group data was negative. CONCLUSIONS: Our data show that baseline CRP concentrations are not subject to time-of-day variation and thus help to explain why CRP concentrations are a better predictor of vascular risk than interleukin-6. Determination of CRP for cardiovascular risk prediction may be performed without concern for diurnal variation.

  18. Mexico Geoid Heights (MEXICO97)

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This 2' geoid height grid for Mexico, and North-Central America, is the MEXICO97 geoid model. The computation used about one million terrestrial and marine gravity...

  19. Alaska Geoid Heights (GEOID96)

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This 2' x 4' geoid height grid for Alaska is distributed as a GEOID96 model. The computation used 1.1 million terrestrial and marine gravity data held in the...

  20. Circadian variation of EEG power spectra in NREM and REM sleep in humans: dissociation from body temperature

    Science.gov (United States)

    Dijk, D. J.

    1999-01-01

    In humans, EEG power spectra in REM and NREM sleep, as well as characteristics of sleep spindles such as their duration, amplitude, frequency and incidence, vary with circadian phase. Recently it has been hypothesized that circadian variations in EEG spectra in humans are caused by variations in brain or body temperature and may not represent phenomena relevant to sleep regulatory processes. To test this directly, a further analysis of EEG power spectra - collected in a forced desynchrony protocol in which sleep episodes were scheduled to a 28-h period while the rhythms of body temperature and plasma melatonin were oscillating at their near 24-h period - was carried out. EEG power spectra were computed for NREM and REM sleep occurring between 90-120 and 270-300 degrees of the circadian melatonin rhythm, i.e. just after the clearance of melatonin from plasma in the 'morning' and just after the 'evening' increase in melatonin secretion. Average body temperatures during scheduled sleep at these two circadian phases were identical (36.72 degrees C). Despite identical body temperatures, the power spectra in NREM sleep were very different at these two circadian phases. EEG activity in the low frequency spindle range was significantly and markedly enhanced after the evening increase in plasma melatonin as compared to the morning phase. For REM sleep, significant differences in power spectra during these two circadian phases, in particular in the alpha range, were also observed. The results confirm that EEG power spectra in NREM and REM sleep vary with circadian phase, suggesting that the direct contribution of temperature to the circadian variation in EEG power spectra is absent or only minor, and are at variance with the hypothesis that circadian variations in EEG power spectra are caused by variations in temperature.

  1. Plasmodium falciparum CS protein - prime malaria vaccine candidate: definition of the human CTL domain and analysis of its variation

    Directory of Open Access Journals (Sweden)

    Denise L. Doolan

    1992-01-01

    Full Text Available Studies in mice have shown that immunity to malaria sporozoites is mediated primarily by citotoxic T lymphocytes (CTL specific for epitopes within the circumsporozoite (CS protein. Humans, had never been shown to generate CTL against any malaria or other parasite protein. The design of a sub-unit vaccine for humans ralies on the epitopes recognized by CTL being identified and polymorphisms therein being defined. We have developed a novel technique using an entire series of overlapping synthetic peptides to define the epitopes of the Plasmodium falciparum CS protein recognized by human CTL and have analyzed the sequence variation of the protein with respect to the identified CTL epitopic domain. We have demonstrated that some humans can indeed generate CTL. against the P. falciparum CS protein. Furthermore, the extent of variation observed for the CTL recognition domain is finite and the combination of peptides necessary for inclusion in a polyvalent vaccine may be small. If ways can be found to increase immune responsiveness, then a vaccine designed to stimulate CS protein-specific CTL activity may prevent malaria.

  2. Assessing vegetation response to climatic variations and human activities: spatiotemporal NDVI variations in the Hexi Corridor and surrounding areas from 2000 to 2010

    Science.gov (United States)

    Guan, Qingyu; Yang, Liqin; Guan, Wenqian; Wang, Feifei; Liu, Zeyu; Xu, Chuanqi

    2018-03-01

    Vegetation cover is a commonly used indicator for evaluating terrestrial environmental conditions, and for revealing environmental evolution and transitions. Spatiotemporal variations in the vegetation cover of the Hexi Corridor and surrounding areas from 2000 to 2010 were investigated using MODIS NDVI data, and the causes of vegetation cover changes were analyzed, considering both climatic variability and human activities. The vegetation cover of the study area increased during 2000-2010. The greenness of the vegetation showed a significant increase from the northwest to the southeast, which was similar to the spatial distribution of the annual precipitation. Variations in vegetation have a close relationship with those in precipitation within the Qilian Mountains region, but the NDVI is negatively correlated with precipitation in oasis areas. Increasing temperatures led to drought, inhibiting vegetation growth in summer; however, increasing temperatures may have also advanced and prolonged the growing periods in spring and autumn. The NDVI showed a slight degradation in March and July, primarily in the Qilian Mountains, and especially the Wushao Mountains. In March, due to low temperatures, the metabolism rate of vegetation was too slow to enable strong plant growth in high elevations of the Qilian Mountains. In July, increasing temperatures enhanced the intensity of transpiration and decreasing precipitation reduced the moisture available to plants, producing a slight degradation of vegetation in the Qilian Mountains. In May and August, the NDVI showed a significant improvement, primarily in the artificial oases and the Qilian Mountains. Abundant precipitation provided the necessary water for plant growth, and suitable temperatures increased the efficiency of photosynthesis, resulting in a significant improvement of vegetation in the Qilian Mountains. The improvement of production technologies, especially in irrigation, has been beneficial to the growth of

  3. Pharmacomicrobiomics: The Impact of Human Microbiome Variations on Systems Pharmacology and Personalized Therapeutics

    OpenAIRE

    ElRakaiby, Marwa; Dutilh, Bas E.; Rizkallah, Mariam R.; Boleij, Annemarie; Cole, Jason N.; Aziz, Ramy K.

    2014-01-01

    The Human Microbiome Project (HMP) is a global initiative undertaken to identify and characterize the collection of human-associated microorganisms at multiple anatomic sites (skin, mouth, nose, colon, vagina), and to determine how intra-individual and inter-individual alterations in the microbiome influence human health, immunity, and different disease states. In this review article, we summarize the key findings and applications of the HMP that may impact pharmacology and personalized thera...

  4. 17 Years of Cloud Heights from Terra, and Beyond

    Science.gov (United States)

    Davies, R.

    2017-12-01

    The effective cloud height, H, is the integral of observed cloud-top heights, weighted by their frequency of occurrence. Here we look at changes in the effective cloud height, H', as measured by the Multiangle Imaging Spectroradiometer (MISR) on the first Earth Observing System platform, Terra. Terra was launched in December 1999, and now has over 17 years of consistently measured climate records. Globally, HG' has an important influence on Earth's climate, whereas regionally, HR' is a useful measure of low frequency changes in circulation patterns. MISR has a sampling error in the annual mean HG' of ≈11 m, allowing fairly small interannual variations to be detected. This paper extends the previous 15-year summary that showed significant differences in the long term mean hemispheric cloud height changes. Also of interest are the correlations in tropical cloud height changes and related teleconnections. The largest ephemeral values in the annual HR' [over 1.5 km] are noted over the Central Pacific and the Maritime Continent. These changes are strongly anticorrelated with each other, being directly related to changes in ENSO. They are also correlated with the largest ephemeral changes in HG'. Around the equator, we find at least four distinct centres of similar fluctuations in cloud height. This paper examines the relative time dependence of these regional height changes, separately for La Niña and El Niño events, and stresses the value of extending the time series of uniformly measured cloud heights from space beyond EOS-Terra.

  5. Cosmic ray variations of solar origin in relation to human physiological state during the December 2006 solar extreme events

    Science.gov (United States)

    Papailiou, M.; Mavromichalaki, H.; Vassilaki, A.; Kelesidis, K. M.; Mertzanos, G. A.; Petropoulos, B.

    2009-02-01

    There is an increasing amount of evidence linking biological effects to solar and geomagnetic disturbances. A series of studies is published referring to the changes in human physiological responses at different levels of geomagnetic activity. In this study, the possible relation between the daily variations of cosmic ray intensity, measured by the Neutron Monitor at the Cosmic Ray Station of the University of Athens (http://cosray.phys.uoa.gr) and the average daily and hourly heart rate variations of persons, with no symptoms or hospital admission, monitored by Holter electrocardiogram, is considered. This work refers to a group of persons admitted to the cardiological clinic of the KAT Hospital in Athens during the time period from 4th to 24th December 2006 that is characterized by extreme solar and geomagnetic activity. A series of Forbush decreases started on 6th December and lasted until the end of the month and a great solar proton event causing a Ground Level Enhancement (GLE) of the cosmic ray intensity on 13th December occurred. A sudden decrease of the cosmic ray intensity on 15th December, when a geomagnetic storm was registered, was also recorded in Athens Neutron Monitor station (cut-off rigidity 8.53 GV) with amplitude of 4%. It is noticed that during geomagnetically quiet days the heart rate and the cosmic ray intensity variations are positively correlated. When intense cosmic ray variations, like Forbush decreases and relativistic proton events produced by strong solar phenomena occur, cosmic ray intensity and heart rate get minimum values and their variations, also, coincide. During these events the correlation coefficient of these two parameters changes and follows the behavior of the cosmic ray intensity variations. This is only a small part of an extended investigation, which has begun using data from the year 2002 and is still in progress.

  6. Nocturnal variations in subcutaneous blood flow rate in lower leg of normal human subjects

    DEFF Research Database (Denmark)

    Sindrup, J H; Kastrup, J; Jørgensen, B

    1991-01-01

    in central and local postural sympathetic vasoconstrictor activity. During sleep, characteristic variations in subcutaneous blood flow were disclosed. The 133Xe washout curve could be divided into three segments with significantly different slopes. Approximately 90 min after the subject went to sleep...

  7. Interindividual variation in gene expression responses and metabolite formation in acetaminophen-exposed primary human hepatocytes

    NARCIS (Netherlands)

    Jetten, M.J.A.; Blanco Garcia, Ainhoa; Coonen, M.L.J.; Claessen, Sandra; Herwijnen, van M.H.M.; Lommen, Arjen; Delft, van J.H.M.; Peijnenburg, A.A.C.M.; Kleinjans, J.C.S.

    2016-01-01

    Acetaminophen (APAP) is a readily available over-the-counter drug and is one of the most commonly used analgesics/antipyretics worldwide. Large interindividual variation in susceptibility toward APAP-induced liver failure has been reported. However, the exact underlying factors causing this

  8. Pleistocene-Holocene boundary in Southern Arabia from the perspective of human mtDNA variation

    Czech Academy of Sciences Publication Activity Database

    Al-Abri, A.-R.; Podgorná, E.; Rose, J. I.; Pereira, L.; Mulligan, C. J.; Silva, N. M.; Bayoumi, R.; Soares, P.; Černý, Viktor

    2012-01-01

    Roč. 149, č. 2 (2012), s. 291-298 ISSN 0002-9483 R&D Projects: GA MŠk ME 917 Institutional research plan: CEZ:AV0Z80020508 Keywords : mtDNA variation * Arabian Peninsula * migrations Subject RIV: AC - Archeology, Anthropology, Ethnology Impact factor: 2.481, year: 2012

  9. Husbands' and Wives' Relative Earnings: Exploring Variation by Race, Human Capital, Labor Supply, and Life Stage

    Science.gov (United States)

    Winslow-Bowe, Sarah

    2009-01-01

    Whereas much research has explored the causes and consequences of the gender wage gap, far less has examined earnings differentials within marriage. This article contributes to this literature by utilizing the 2000 wave of the 1979 National Longitudinal Survey of Youth to examine variation in husbands' and wives' relative income by race/ethnicity,…

  10. Variation in tissue outcome of ovine and human engineered heart valve constructs : relevance for tissue engineering

    NARCIS (Netherlands)

    Geemen, van D.; Driessen - Mol, A.; Grootzwagers, L.G.M.; Soekhradj - Soechit, R.S.; Riem Vis, P.W.; Baaijens, F.P.T.; Bouten, C.V.C.

    AIM: Clinical application of tissue engineered heart valves requires precise control of the tissue culture process to predict tissue composition and mechanical properties prior to implantation, and to understand the variation in tissue outcome. To this end we investigated cellular phenotype and

  11. Chloroplast DNA variation of oaks in western Central Europe and genetic consequences of human influences

    NARCIS (Netherlands)

    König, A.O.; Ziegenhagen, B.; Dam, van B.C.; Csaikl, U.M.; Coart, E.; Degen, B.; Burg, K.; Vries, de S.M.G.; Petit, R.J.

    2002-01-01

    Oak chloroplast DNA (cpDNA) variation was studied in a grid-based inventory in western Central Europe, including Belgium, The Netherlands, Luxembourg, Germany, the Czech Republic, and the northern parts of Upper and Lower Austria. A total of 2155 trees representing 426 populations of Quercus robur

  12. Sources of variation in hair cortisol in wild and captive non-human primates.

    Science.gov (United States)

    Fourie, Nicolaas H; Brown, Janine L; Jolly, Clifford J; Phillips-Conroy, Jane E; Rogers, Jeffrey; Bernstein, Robin M

    2016-04-01

    Hair cortisol analysis is a potentially powerful tool for evaluating adrenal function and chronic stress. However, the technique has only recently been applied widely to studies of wildlife, including primates, and there are numerous practical and technical factors that should be considered to ensure good quality data and the validity of results and conclusions. Here we report on various intrinsic and extrinsic sources of variation in hair cortisol measurements in wild and captive primates. Hair samples from both wild and captive primates revealed that age and sex can affect hair cortisol concentrations; these effects need to be controlled for when making comparisons between individual animals or populations. Hair growth rates also showed considerable inter-specific variation among a number of primate species. We describe technical limitations of hair analyses and variation in cortisol concentrations as a function of asynchronous hair growth, anatomical site of collection, and the amount and numbers of hair/s used for cortisol extraction. We discuss these sources of variation and their implications for proper study design and interpretation of results. Published by Elsevier GmbH.

  13. Inter- and Intraspecific Variations in the Pectoral Muscles of Common Chimpanzees (Pan troglodytes, Bonobos (Pan paniscus, and Humans (Homo sapiens

    Directory of Open Access Journals (Sweden)

    J. M. Potau

    2018-01-01

    Full Text Available We have analyzed anatomic variations in the pectoralis major and pectoralis minor muscles of common chimpanzees (Pan troglodytes and bonobos (Pan paniscus and compared them to anatomic variations in these muscles in humans (Homo sapiens. We have macroscopically dissected these muscles in six adult Pan troglodytes, five Pan paniscus of ages ranging from fetus to adult, and five adult Homo sapiens. Although Pan troglodytes are thought to lack a separate pectoralis abdominis muscle, we have identified this muscle in three of the Pan troglodytes; none of the Pan paniscus, however, had this muscle. We have also found deep supernumerary fascicles in the pectoralis major of two Pan troglodytes and all five Pan paniscus. In all six Pan troglodytes, the pectoralis minor was inserted at the supraspinatus tendon, while, in Pan paniscus and Homo sapiens, it was inserted at the coracoid process of the scapula. Some of the anatomic features and variations of these muscles in common chimpanzees and bonobos are similar to those found in humans, therefore enhancing our knowledge of primate comparative anatomy and evolution and also shedding light on several clinical issues.

  14. Inter- and Intraspecific Variations in the Pectoral Muscles of Common Chimpanzees (Pan troglodytes), Bonobos (Pan paniscus), and Humans (Homo sapiens).

    Science.gov (United States)

    Potau, J M; Arias-Martorell, J; Bello-Hellegouarch, G; Casado, A; Pastor, J F; de Paz, F; Diogo, R

    2018-01-01

    We have analyzed anatomic variations in the pectoralis major and pectoralis minor muscles of common chimpanzees (Pan troglodytes) and bonobos (Pan paniscus) and compared them to anatomic variations in these muscles in humans (Homo sapiens) . We have macroscopically dissected these muscles in six adult Pan troglodytes , five Pan paniscus of ages ranging from fetus to adult, and five adult Homo sapiens . Although Pan troglodytes are thought to lack a separate pectoralis abdominis muscle, we have identified this muscle in three of the Pan troglodytes ; none of the Pan paniscus , however, had this muscle. We have also found deep supernumerary fascicles in the pectoralis major of two Pan troglodytes and all five Pan paniscus . In all six Pan troglodytes , the pectoralis minor was inserted at the supraspinatus tendon, while, in Pan paniscus and Homo sapiens , it was inserted at the coracoid process of the scapula. Some of the anatomic features and variations of these muscles in common chimpanzees and bonobos are similar to those found in humans, therefore enhancing our knowledge of primate comparative anatomy and evolution and also shedding light on several clinical issues.

  15. Pharmacomicrobiomics : the impact of human microbiome variations on systems pharmacology and personalized therapeutics

    NARCIS (Netherlands)

    ElRakaiby, Marwa; Dutilh, Bas E; Rizkallah, Mariam R; Boleij, Annemarie; Cole, Jason N; Aziz, Ramy K

    The Human Microbiome Project (HMP) is a global initiative undertaken to identify and characterize the collection of human-associated microorganisms at multiple anatomic sites (skin, mouth, nose, colon, vagina), and to determine how intra-individual and inter-individual alterations in the microbiome

  16. Pharmacomicrobiomics: the impact of human microbiome variations on systems pharmacology and personalized therapeutics

    NARCIS (Netherlands)

    ElRakaiby, M.; Dutilh, B.E.; Rizkallah, M.R.; Boleij, A.; Cole, J.N.; Aziz, R.K.

    2014-01-01

    The Human Microbiome Project (HMP) is a global initiative undertaken to identify and characterize the collection of human-associated microorganisms at multiple anatomic sites (skin, mouth, nose, colon, vagina), and to determine how intra-individual and inter-individual alterations in the microbiome

  17. Evolutionary developmental pathology and anthropology: A new field linking development, comparative anatomy, human evolution, morphological variations and defects, and medicine.

    Science.gov (United States)

    Diogo, Rui; Smith, Christopher M; Ziermann, Janine M

    2015-11-01

    We introduce a new subfield of the recently created field of Evolutionary-Developmental-Anthropology (Evo-Devo-Anth): Evolutionary-Developmental-Pathology-and-Anthropology (Evo-Devo-P'Anth). This subfield combines experimental and developmental studies of nonhuman model organisms, biological anthropology, chordate comparative anatomy and evolution, and the study of normal and pathological human development. Instead of focusing on other organisms to try to better understand human development, evolution, anatomy, and pathology, it places humans as the central case study, i.e., as truly model organism themselves. We summarize the results of our recent Evo-Devo-P'Anth studies and discuss long-standing questions in each of the broader biological fields combined in this subfield, paying special attention to the links between: (1) Human anomalies and variations, nonpentadactyly, homeotic transformations, and "nearest neighbor" vs. "find and seek" muscle-skeleton associations in limb+facial muscles vs. other head muscles; (2) Developmental constraints, the notion of "phylotypic stage," internalism vs. externalism, and the "logic of monsters" vs. "lack of homeostasis" views about human birth defects; (3) Human evolution, reversions, atavisms, paedomorphosis, and peromorphosis; (4) Scala naturae, Haeckelian recapitulation, von Baer's laws, and parallelism between phylogeny and development, here formally defined as "Phylo-Devo parallelism"; and (5) Patau, Edwards, and Down syndrome (trisomies 13, 18, 21), atavisms, apoptosis, heart malformations, and medical implications. © 2015 Wiley Periodicals, Inc.

  18. Bridging two scholarly islands enriches both: COI DNA barcodes for species identification versus human mitochondrial variation for the study of migrations and pathologies.

    Science.gov (United States)

    Thaler, David S; Stoeckle, Mark Y

    2016-10-01

    DNA barcodes for species identification and the analysis of human mitochondrial variation have developed as independent fields even though both are based on sequences from animal mitochondria. This study finds questions within each field that can be addressed by reference to the other. DNA barcodes are based on a 648-bp segment of the mitochondrially encoded cytochrome oxidase I. From most species, this segment is the only sequence available. It is impossible to know whether it fairly represents overall mitochondrial variation. For modern humans, the entire mitochondrial genome is available from thousands of healthy individuals. SNPs in the human mitochondrial genome are evenly distributed across all protein-encoding regions arguing that COI DNA barcode is representative. Barcode variation among related species is largely based on synonymous codons. Data on human mitochondrial variation support the interpretation that most - possibly all - synonymous substitutions in mitochondria are selectively neutral. DNA barcodes confirm reports of a low variance in modern humans compared to nonhuman primates. In addition, DNA barcodes allow the comparison of modern human variance to many other extant animal species. Birds are a well-curated group in which DNA barcodes are coupled with census and geographic data. Putting modern human variation in the context of intraspecies variation among birds shows humans to be a single breeding population of average variance.

  19. Steroid hormones and peptide hormones in atopic eczema. Radioimmunological determination of diurnal plasma level variations of testosterone, cortisol, prolactin and human growth factor in healthy volunteers and patients showing atopic eczemae

    International Nuclear Information System (INIS)

    Bock, B.

    1986-01-01

    An analysis of hormone measurements in sera from healthy volunteers and patients that was carried out on the basis of different criteria yielded the following results: 1) The testosterone levels determined in the patients sera were significantly lower than those of the healthy individuals and the daily rhythmic variations seen here did not attain statistical significance. 2) There were no statistically relevant differences in the serum concentrations of cortisol between healthy individuals and patients, nor was the amplitude of the daily variations observed to be changed in a consistent way. 3) In the patients, as compared to the healthy individuals, the prolactin level was considerably increased, as was the amplitude of the daily rhythmic variations. 4) The values determined for the human growth hormone (HCG) varied considerably between the individuals of either group. Since this held true for both the fluctuations with time and the height of the serum concentrations, a statistical analysis of the results appeared pointless. The results confirm that central and autonomous components have an important role in ectopic eczemae. (TRV) [de

  20. Composition and Variation of Macronutrients, Immune Proteins, and Human Milk Oligosaccharides in Human Milk From Nonprofit and Commercial Milk Banks.

    Science.gov (United States)

    Meredith-Dennis, Laura; Xu, Gege; Goonatilleke, Elisha; Lebrilla, Carlito B; Underwood, Mark A; Smilowitz, Jennifer T

    2018-02-01

    When human milk is unavailable, banked milk is recommended for feeding premature infants. Milk banks use processes to eliminate pathogens; however, variability among methods exists. Research aim: The aim of this study was to compare the macronutrient (protein, carbohydrate, fat, energy), immune-protective protein, and human milk oligosaccharide (HMO) content of human milk from three independent milk banks that use pasteurization (Holder vs. vat techniques) or retort sterilization. Randomly acquired human milk samples from three different milk banks ( n = 3 from each bank) were analyzed for macronutrient concentrations using a Fourier transform mid-infrared spectroscopy human milk analyzer. The concentrations of IgA, IgM, IgG, lactoferrin, lysozyme, α-lactalbumin, α antitrypsin, casein, and HMO were analyzed by mass spectrometry. The concentrations of protein and fat were significantly ( p < .05) less in the retort sterilized compared with the Holder and vat pasteurized samples, respectively. The concentrations of all immune-modulating proteins were significantly ( p < .05) less in the retort sterilized samples compared with vat and/or Holder pasteurized samples. The total HMO concentration and HMOs containing fucose, sialic acid, and nonfucosylated neutral sugars were significantly ( p < .05) less in retort sterilized compared with Holder pasteurized samples. Random milk samples that had undergone retort sterilization had significantly less immune-protective proteins and total and specific HMOs compared with samples that had undergone Holder and vat pasteurization. These data suggest that further analysis of the effect of retort sterilization on human milk components is needed prior to widespread adoption of this process.

  1. Noninvasive monitoring local variations of fever and edema on human: potential for point-of-care inflammation assessment

    Science.gov (United States)

    Li, Zebin; Li, Xianglin; Li, Ting

    2018-02-01

    Tissue inflammation is often accompanied by fever and edema, which are common and troublesome problems that probably trigger disability, lymphangitis, cosmetic deformity and cellulitis. Here we developed a device, which can measure concentration and temperature variations of water in local human body by extended near infrared spectroscopy in 900 1000 nm wavelength range. An experiment of four steps incremental cycling exercise was designed to change tissue water concentration and temperature of subjects. Body temperature was also estimated by tympanic thermometer and surface thermometer as comparisons during the experiment. In the stage of recovery after exercise, the signal detected by custom device is similar to tympanic thermometer at the beginning, but it is closer to the temperature of surface later. In particular, this signal shows a better linearity, and a significant change when the exercise was suspended. This study demonstrated the potential of optical touch-sensing for inflammation severity monitoring by measuring water concentration and temperature variations in local lesions.

  2. Encounter Probability of Significant Wave Height

    DEFF Research Database (Denmark)

    Liu, Z.; Burcharth, H. F.

    The determination of the design wave height (often given as the significant wave height) is usually based on statistical analysis of long-term extreme wave height measurement or hindcast. The result of such extreme wave height analysis is often given as the design wave height corresponding to a c...

  3. Characterising the variations in ethnic skin colours: a new calibrated data base for human skin.

    Science.gov (United States)

    Xiao, K; Yates, J M; Zardawi, F; Sueeprasan, S; Liao, N; Gill, L; Li, C; Wuerger, S

    2017-02-01

    Accurate skin colour measurements are important for numerous medical applications including the diagnosis and treatment of cutaneous disorders and the provision of maxillofacial soft tissue prostheses. In this study, we obtained accurate skin colour measurements from four different ethnic groups (Caucasian, Chinese, Kurdish, Thai) and at four different body locations (Forehead, cheek, inner arm, back of hand) with a view of establishing a new skin colour database for medical and cosmetic applications. Skin colours are measured using a spectrophotometer and converted to a device-independent standard colour appearance space (CIELAB) where skin colour is expressed as values along the three dimensions: Lightness L*, Redness a* and Yellowness b*. Skin colour differences and variation are then evaluated as a function of ethnicity and body location. We report three main results: (1) When plotted in a standard colour appearance space (CIELAB), skin colour distributions for the four ethnic groups overlap significantly, although there are systematic mean differences. Between ethnicities, the most significant skin colour differences occur along the yellowness dimension, with Thai skin exhibiting the highest yellowness (b*) value and Caucasian skin the lowest value. Facial redness (a*) is invariant across the four ethnic groups. (2) Between different body locations, there are significant variations in redness (a*), with the forehead showing the highest redness value and the inner arm the lowest. (3) The colour gamut is smallest in the Chinese sample and largest in the Caucasian sample, with the Chinese gamut lying entirely the Caucasian gamut. Similarly, the largest variability in skin tones is found in the Caucasian group, and the smallest in the Chinese group. Broadly speaking, skin colour variation can be explained by two main factors: individual differences in lightness and yellowness are mostly due to ethnicity, whereas differences in redness are primarily due to

  4. Variations of the attachment of the superior head of human lateral pterygoid muscle.

    Science.gov (United States)

    Antonopoulou, Maria; Iatrou, Ioannis; Paraschos, Alexandros; Anagnostopoulou, Sophia

    2013-09-01

    The superior head of the lateral pterygoid muscle (LPM), is closely related to the temporomandibular joint (TMJ) and plays a role in the aetiology of temporomandibular disorders. Increased activity of this muscle has been implicated in the anterior displacement of the TMJ disc. However, there is uncertainty about the manner of the LPM attachment to the disc-condyle complex. The aim of this study was to investigate the exact anatomy of the attachment of the superior head of the LPM (SLPM) to the disc-condyle complex of the TMJ. Thirty-six TMJs were examined - both sides of 18 Greek cadavers (eight males and 10 females, mean age 79.6 years). Examination of the attachment of the SLPM was undertaken viewed under the dissecting microscope. Variation in the attachment of the SLPM was categorized into three types: in type I, the SLPM inserted into the condyle and the disc-capsule complex (55.5%). In type II, the SLPM only inserted into the condyle (27.8%). In type III, the SLPM inserted purely into the disc-capsule complex (16.7%). This study demonstrates that there are three different attachment types of the SLPM to the disc-condyle complex. The type III variation could be involved in the TMJ pathology. The knowledge of the variations of the SLPM attachment could be useful for precise surgical and pharmaceutical approaches. Copyright © 2012 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

  5. Variation in sister chromatid exchange frequencies between human and pig whole blood, plasma leukocyte, and mononuclear leukocyte cultures

    International Nuclear Information System (INIS)

    Larramendy, M.L.; Reigosa, M.A.

    1986-01-01

    Sister chromatid exchange (SCE) induction by ultraviolet (UV) light was studied in both human and pig whole blood cultures (WBC) and plasma leukocyte cultures (PLC). No variation in SCE frequency was observed between pig WBC and PLC in control as well as in treated cells. Conversely, SCE frequencies of human PLC were consistently higher than those of WBC in control and UV-exposed cells. Thus, red blood cells (RBCs) do not influence the sensitivity of lymphocytes to UV LIGHT exposure, and there must be some different culture condition(s) in the inducation of SCEs between human WBC and PLC but not in swine lymphocyte cultures. Since the BrdUrd/lymphocyte ratio of WBC was halved in PLC, the effect of BrdUrd concentration in inducing the SCE baseline frequency of PLC may be ruled out. Neither the cell separation technique nor polymorphonuclear leukocytes had a significant role in the elevated SCE frequency of human PLC or MLC. Experiments where human RBCs were titrated into human PLC showed that the induction of an elevated SCE frequency of PLC was suppressed in a dose-dependent manner by the presence of RBCs in the culture medium. Since the incorporation of pig or human RBCs into human PLC as well as into MLC reduced the SCE frequency to that of WBC, a common component and/or function existing in these cells is suggested. Analysis of different RBC components showed that RBCs, specifically RBC ghosts, release a diffusible but not dialyzable corrective factor into culture medium that is able to reduce the SCE frequencies of PLC

  6. Human activities as a driver of spatial variation in the trophic structure of fish communities on Pacific coral reefs.

    Science.gov (United States)

    Ruppert, Jonathan L W; Vigliola, Laurent; Kulbicki, Michel; Labrosse, Pierre; Fortin, Marie-Josée; Meekan, Mark G

    2018-01-01

    Anthropogenic activities such as land-use change, pollution and fishing impact the trophic structure of coral reef fishes, which can influence ecosystem health and function. Although these impacts may be ubiquitous, they are not consistent across the tropical Pacific Ocean. Using an extensive database of fish biomass sampled using underwater visual transects on coral reefs, we modelled the impact of human activities on food webs at Pacific-wide and regional (1,000s-10,000s km) scales. We found significantly lower biomass of sharks and carnivores, where there were higher densities of human populations (hereafter referred to as human activity); however, these patterns were not spatially consistent as there were significant differences in the trophic structures of fishes among biogeographic regions. Additionally, we found significant changes in the benthic structure of reef environments, notably a decline in coral cover where there was more human activity. Direct human impacts were the strongest in the upper part of the food web, where we found that in a majority of the Pacific, the biomass of reef sharks and carnivores were significantly and negatively associated with human activity. Finally, although human-induced stressors varied in strength and significance throughout the coral reef food web across the Pacific, socioeconomic variables explained more variation in reef fish trophic structure than habitat variables in a majority of the biogeographic regions. Notably, economic development (measured as GDP per capita) did not guarantee healthy reef ecosystems (high coral cover and greater fish biomass). Our results indicate that human activities are significantly shaping patterns of trophic structure of reef fishes in a spatially nonuniform manner across the Pacific Ocean, by altering processes that organize communities in both "top-down" (fishing of predators) and "bottom-up" (degradation of benthic communities) contexts. © 2017 John Wiley & Sons Ltd.

  7. Height and Breast Cancer Risk

    DEFF Research Database (Denmark)

    Zhang, Ben; Shu, Xiao-Ou; Delahanty, Ryan J

    2015-01-01

    BACKGROUND: Epidemiological studies have linked adult height with breast cancer risk in women. However, the magnitude of the association, particularly by subtypes of breast cancer, has not been established. Furthermore, the mechanisms of the association remain unclear. METHODS: We performed a meta......-analysis to investigate associations between height and breast cancer risk using data from 159 prospective cohorts totaling 5216302 women, including 113178 events. In a consortium with individual-level data from 46325 case patients and 42482 control patients, we conducted a Mendelian randomization analysis using...... a genetic score that comprised 168 height-associated variants as an instrument. This association was further evaluated in a second consortium using summary statistics data from 16003 case patients and 41335 control patients. RESULTS: The pooled relative risk of breast cancer was 1.17 (95% confidence...

  8. Geographic variation in nasal cavity form among three human groups from the Japanese Archipelago: Ecogeographic and functional implications.

    Science.gov (United States)

    Fukase, Hitoshi; Ito, Tsuyoshi; Ishida, Hajime

    2016-05-01

    Geographic variation in human nasal form has often been interpreted as a climatic adaptation, owing to the nasal air-conditioning function. The aim of this study was to further address morphofunctional issues of the nasal cavity, using three human groups from subarctic, temperate, and subtropical regions of the Japanese Archipelago: prehistoric Okhotsk, early-modern Honshu and Okinawa groups. Using three-dimensional coordinates of craniometric landmarks surrounding the nasal cavity, we compared linear measurements regarding nasal cavity form among the three groups and also conducted 3D geometric morphometrics. Both linear measurements and morphometric analyses corroborate the previously reported covariation pattern of nasal cavity shape with climate, where humans from a cold/dry climate tend to possess a relatively tall, narrow, and deep nasal cavity compared with those from a warm/humid environment. The northern Okhotsk group had overall larger cranial airways, which may be attributable to their large facial skeleton. However, the ratio of nasal/bimaxillary breadth was significantly lower in the Okhotsk group, indicating that maxillary size does not necessarily constrain the nasal breadth. In addition, despite the presence of obvious geographic clines in anterior nasal shape, posterior choanal shape lacked the north-south geographic cline. This suggests a certain level of morphofunctional independence between the anterior and posterior nasal openings. The observed geographic variations must, however, be partly considered as a reflection of different ancestral traits and population histories of the three groups. Nevertheless, the results indicate that intergroup variations in nasal cavity morphology can be largely explained by climatic conditions. Am. J. Hum. Biol. 28:343-351, 2016. © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.

  9. High-confidence assessment of functional impact of human mitochondrial non-synonymous genome variations by APOGEE.

    Directory of Open Access Journals (Sweden)

    Stefano Castellana

    2017-06-01

    Full Text Available 24,189 are all the possible non-synonymous amino acid changes potentially affecting the human mitochondrial DNA. Only a tiny subset was functionally evaluated with certainty so far, while the pathogenicity of the vast majority was only assessed in-silico by software predictors. Since these tools proved to be rather incongruent, we have designed and implemented APOGEE, a machine-learning algorithm that outperforms all existing prediction methods in estimating the harmfulness of mitochondrial non-synonymous genome variations. We provide a detailed description of the underlying algorithm, of the selected and manually curated training and test sets of variants, as well as of its classification ability.

  10. High-resolution copy-number variation map reflects human olfactory receptor diversity and evolution.

    Directory of Open Access Journals (Sweden)

    Yehudit Hasin

    2008-11-01

    Full Text Available Olfactory receptors (ORs, which are involved in odorant recognition, form the largest mammalian protein superfamily. The genomic content of OR genes is considerably reduced in humans, as reflected by the relatively small repertoire size and the high fraction ( approximately 55% of human pseudogenes. Since several recent low-resolution surveys suggested that OR genomic loci are frequently affected by copy-number variants (CNVs, we hypothesized that CNVs may play an important role in the evolution of the human olfactory repertoire. We used high-resolution oligonucleotide tiling microarrays to detect CNVs across 851 OR gene and pseudogene loci. Examining genomic DNA from 25 individuals with ancestry from three populations, we identified 93 OR gene loci and 151 pseudogene loci affected by CNVs, generating a mosaic of OR dosages across persons. Our data suggest that approximately 50% of the CNVs involve more than one OR, with the largest CNV spanning 11 loci. In contrast to earlier reports, we observe that CNVs are more frequent among OR pseudogenes than among intact genes, presumably due to both selective constraints and CNV formation biases. Furthermore, our results show an enrichment of CNVs among ORs with a close human paralog or lacking a one-to-one ortholog in chimpanzee. Interestingly, among the latter we observed an enrichment in CNV losses over gains, a finding potentially related to the known diminution of the human OR repertoire. Quantitative PCR experiments performed for 122 sampled ORs agreed well with the microarray results and uncovered 23 additional CNVs. Importantly, these experiments allowed us to uncover nine common deletion alleles that affect 15 OR genes and five pseudogenes. Comparison to the chimpanzee reference genome revealed that all of the deletion alleles are human derived, therefore indicating a profound effect of human-specific deletions on the individual OR gene content. Furthermore, these deletion alleles may be used

  11. Human Capital Versus Income Variations: Are They Linked in OECD Countries?

    Directory of Open Access Journals (Sweden)

    Jakub Bartak

    2016-03-01

    Full Text Available Purpose: The theory of endogenous growth suggests a number of relations between income inequality and human capital. However, empirical evidence in this field is scarce. Therefore, in this paper we aim to demonstrate the existence of interdependencies between income inequality and human capital across OECD countries.Methodology: We present findings of the endogenous growth theory on the mechanisms linking inequality with human capital. Subsequently, we attempt to verify these links empirically using the regression function estimated by means of the generalized method of moments (GMM. The empirical analysis is based on panel data from 1995–2010.Findings: The results of the study reveal the existence of a negative relationship between income inequality and health indicators (infant mortality and maternal mortality. However, we did not reach an authoritative conclusion about the relationship between income inequality and quantitative indicators of educational achievement.Research limitations: Research is limited to the sample of OECD countries. Interdependencies between income inequality and human capital could be captured more clearly using a broader sample.Originality: This paper presents one of few studies testing the relation between human capital and income inequality. The use of high-quality empirical data on inequality (SWIID data and the generalized method of moments made it possible to contribute new arguments to the discussion of empirical analyses of these economic categories.

  12. Inducible nitric oxide synthase (iNOS) regulatory region variation in non-human primates.

    Science.gov (United States)

    Roodgar, Morteza; Ross, Cody T; Kenyon, Nicholas J; Marcelino, Gretchen; Smith, David Glenn

    2015-04-01

    Inducible nitric oxide synthase (iNOS) is an enzyme that plays a key role in intracellular immune response against respiratory infections. Since various species of nonhuman primates exhibit different levels of susceptibility to infectious respiratory diseases, and since variation in regulatory regions of genes is thought to play a key role in expression levels of genes, two candidate regulatory regions of iNOS were mapped, sequenced, and compared across five species of nonhuman primates: African green monkeys (Chlorocebus sabaeus), pig-tailed macaques (Macaca nemestrina), cynomolgus macaques (Macaca fascicularis), Indian rhesus macaques (Macaca mulatta), and Chinese rhesus macaques (M. mulatta). In addition, we conducted an in silico analysis of the transcription factor binding sites associated with genetic variation in these two candidate regulatory regions across species. We found that only one of the two candidate regions showed strong evidence of involvement in iNOS regulation. Specifically, we found evidence of 13 conserved binding site candidates linked to iNOS regulation: AP-1, C/EBPB, CREB, GATA-1, GATA-3, NF-AT, NF-AT5, NF-κB, KLF4, Oct-1, PEA3, SMAD3, and TCF11. Additionally, we found evidence of interspecies variation in binding sites for several regulatory elements linked to iNOS (GATA-3, GATA-4, KLF6, SRF, STAT-1, STAT-3, OLF-1 and HIF-1) across species, especially in African green monkeys relative to other species. Given the key role of iNOS in respiratory immune response, the findings of this study might help guide the direction of future studies aimed to uncover the molecular mechanisms underlying the increased susceptibility of African green monkeys to several viral and bacterial respiratory infections. Copyright © 2015 Elsevier B.V. All rights reserved.

  13. Inter-individual variations of human mercury exposure biomarkers: a cross-sectional assessment

    Directory of Open Access Journals (Sweden)

    Einarsson Östen

    2005-10-01

    Full Text Available Abstract Background Biomarkers for mercury (Hg exposure have frequently been used to assess exposure and risk in various groups of the general population. We have evaluated the most frequently used biomarkers and the physiology on which they are based, to explore the inter-individual variations and their suitability for exposure assessment. Methods Concentrations of total Hg (THg, inorganic Hg (IHg and organic Hg (OHg, assumed to be methylmercury; MeHg were determined in whole blood, red blood cells, plasma, hair and urine from Swedish men and women. An automated multiple injection cold vapour atomic fluorescence spectrophotometry analytical system for Hg analysis was developed, which provided high sensitivity, accuracy, and precision. The distribution of the various mercury forms in the different biological media was explored. Results About 90% of the mercury found in the red blood cells was in the form of MeHg with small inter-individual variations, and part of the IHg found in the red blood cells could be attributed to demethylated MeHg. THg in plasma was associated with both IHg and MeHg, with large inter-individual variations in the distribution between red blood cells and plasma. THg in hair reflects MeHg exposure at all exposure levels, and not IHg exposure. The small fraction of IHg in hair is most probably emanating from demethylated MeHg. The inter-individual variation in the blood to hair ratio was very large. The variability seemed to decrease with increasing OHg in blood, most probably due to more frequent fish consumption and thereby blood concentrations approaching steady state. THg in urine reflected IHg exposure, also at very low IHg exposure levels. Conclusion The use of THg concentration in whole blood as a proxy for MeHg exposure will give rise to an overestimation of the MeHg exposure depending on the degree of IHg exposure, why speciation of mercury forms is needed. THg in RBC and hair are suitable proxies for MeHg exposure

  14. Definition of Physical Height Systems for Telluric Planets and Moons

    Science.gov (United States)

    Tenzer, Robert; Foroughi, Ismael; Sjöberg, Lars E.; Bagherbandi, Mohammad; Hirt, Christian; Pitoňák, Martin

    2018-01-01

    Regio. The largest geoid undulations between - 747 and 1685 m were found on Mars, with the extreme positive geoidal heights under Olympus Mons in Tharsis region. Large variations in the geoidal geometry are also confirmed on the Moon, with the geoidal heights ranging from - 298 to 461 m. For comparison, the terrestrial geoid undulations are mostly within ± 100 m. We also demonstrate that a commonly used method for computing the geoidal heights that disregards the differences between the gravity field outside and inside topographic masses yields relatively large errors. According to our estimates, these errors are - 0.3/+ 3.4 m for Mercury, 0.0/+ 13.3 m for Venus, - 1.4/+ 125.6 m for Mars, and - 5.6/+ 45.2 m for the Moon.

  15. Perspectives on Human Variation through the Lens of Diversity and Race.

    Science.gov (United States)

    Chakravarti, Aravinda

    2015-09-01

    Human populations, however defined, differ in the distribution and frequency of traits they display and diseases to which individuals are susceptible. These need to be understood with respect to three recent advances. First, these differences are multicausal and a result of not only genetic but also epigenetic and environmental factors. Second, the actions of genes, although crucial, turn out to be quite dynamic and modifiable, which contrasts with the classical view that they are inflexible machines. Third, the diverse human populations across the globe have spent too little time apart from our common origin 50,000 years ago to have developed many individually adapted traits. Human trait and disease differences by continental ancestry are thus as much the result of nongenetic as genetic forces. Copyright © 2015 Cold Spring Harbor Laboratory Press; all rights reserved.

  16. How do low/high height and weight variation affect upper limb movements during manual material handling of industrial boxes? Como a variação de altura e massa da carga afetam os movimentos do membro superior durante o manuseio de caixas industriais?

    Directory of Open Access Journals (Sweden)

    Ana B. Oliveira

    2011-12-01

    Full Text Available OBJECTIVES: To evaluate the effect of surface height and load weight on upper limb movements and electromyographic (EMG recordings during manual handling performed by both experienced and inexperienced lifter subjects. METHODS: Sixteen experienced and sixteen inexperienced lifters handled a box (both 7 and 15 kg from an intermediate height (waist level to either a high or low surface. Electromyography and video images were recorded during the tasks. The 10th, 50th and 90th percentiles were calculated for the deltoid and biceps muscles, shoulder flexion, shoulder abduction, and elbow flexion movements. Groups, right/left sides, weights and heights were compared. There were no differences between either groups or sides. RESULTS: Weight and height variations affected EMG and posture, although weight had more impact on EMG. Shoulder abduction and flexion movements higher than 60º occurred, particularly for the higher surface. Shoulder flexion was also higher when the box was moved to the low height. This study provides new evidence as shoulder postures during boxes handling on low surfaces had not previously been evaluated. CONCLUSIONS: The high demand of upper limb in manual material handling tasks is clear, particularly for the shoulder. This knowledge can be used by physical therapists to plan better rehabilitation programs for manual material handling-related disorders, particularly focusing on return to work.OBJETIVOS: Avaliar o efeito da altura de superfície e massa da carga nos movimentos e na atividade eletromiográfica (EMG dos membros superiores durante o manuseio de carga realizado por sujeitos experientes e inexperientes. MÉTODOS: Dezesseis sujeitos experientes e 16 inexperientes manusearam uma caixa (7 e 15 kg de uma superfície com altura intermediária para uma superfície alta e/ou baixa. Durante as tarefas, foram registradas imagens de vídeo e EMG. Os dados foram processados para obtenção dos percentis 10, 50 e 90 referentes

  17. Obesity and Bariatric Surgery Drive Epigenetic Variation of Spermatozoa in Humans

    DEFF Research Database (Denmark)

    Donkin, Ida; Versteyhe, Soetkin; Ingerslev, Lars R.

    2016-01-01

    Obesity is a heritable disorder, with children of obese fathers at higher risk of developing obesity. Environmental factors epigenetically influence somatic tissues, but the contribution of these factors to the establishment of epigenetic patterns in human gametes is unknown. Here, we hypothesized...... of morbidly obese men, surgery-induced weight loss was associated with a dramatic remodeling of sperm DNA methylation, notably at genetic locations implicated in the central control of appetite. Our data provide evidence that the epigenome of human spermatozoa dynamically changes under environmental pressure...

  18. In silico assessment of genetic variation in KCNA5 reveals multiple mechanisms of human atrial arrhythmogenesis

    DEFF Research Database (Denmark)

    Colman, Michael A; Ni, Haibo; Liang, Bo

    2017-01-01

    and quantify the functional impact of these KCNA5 mutations on atrial electrical activity. A multi-scale model of the human atria was updated to incorporate detailed experimental data on IKur from both wild-type and mutants. The effects of the mutations on human atrial action potential and rate dependence were...... provides new insights into understanding the mechanisms by which mutant IKur contributes to atrial arrhythmias. In addition, as IKur is an atrial-specific channel and a number of IKur-selective blockers have been developed as anti-AF agents, this study also helps to understand some contradictory results...

  19. Clutter Height Variation Effects on Frequency Dependen Path Loss ...

    African Journals Online (AJOL)

    http://dx.doi.org/10.4314/star.v4i4.21 · AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms and Conditions of Use · Contact AJOL · News. OTHER RESOURCES... for Researchers · for Journals · for Authors · for Policy Makers ...

  20. Variations in the ultrastructure of human nasal cilia including abnormalities found in retinitis pigmentosa.

    Science.gov (United States)

    Fox, B; Bull, T B; Arden, G B

    1980-01-01

    The electron microscopic structure of cilia from the inferior turbinate of the nose was studied in 12 adults, four with chronic sinusitis, one with allergic rhinitis, two with bronchiectasis, three with deviated nasal septum, and two normals. The changes are compared with those found in nasal cilia in 14 patients with retinitis pigmentosa. There were compound cilia in the seven cases with chronic sinusitis, allergic rhinitis, and bronchiectasis but, apart from this, the structure of the cilia was similar in all 12 cases. There were variations in the microtubular pattern in about 4% of cilia, dynein arms were not seen in 4%, and in the rest an average of 5-6 dynein arms were seen in each cilium. The orientation of the cilia was 0 to 90 degrees. In the retinitis pigmentosa patients there was a highly significant increase in cilial abnormalities. The establishment on a quantitative basis of the variations in normal structure of nasal cilila facilitated the recognition of an association between cilial abnormalities and retinitis pigmentosa and should help in the identification of associations that may exist between cilial abnormalities and other diseases. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 Fig. 5 Fig. 7 Fig. 8 PMID:7400333

  1. Intra- and interhemispheric variations of diffusivity in subcortical white matter in normal human brain

    International Nuclear Information System (INIS)

    Yoshiura, Takashi; Noguchi, Tomoyuki; Hiwatashi, Akio; Togao, Osamu; Yamashita, Koji; Nagao, Eiki; Kamano, Hironori; Honda, Hiroshi

    2010-01-01

    Our purpose was to reveal potential regional variations in water molecular diffusivity within each cerebral hemisphere and across the right and left hemispheres. Diffusion-weighted images of 44 healthy right-handed adult male subjects were obtained using a diffusion tensor imaging sequence. Mean diffusivity (MD) values in subcortical white matter (WM) within 39 regions in each hemisphere were measured using an automated method. Intrahemispheric comparisons of MDs in subcortical WM were performed among six brain regions (frontal, parietal, occipital and temporal lobes and pre- and postcentral gyri). Interhemispheric comparisons of MDs were performed between the right and left counterparts of the 39 regions. In both hemispheres, diffusivity in the precentral gyrus was lower than those in other regions, while diffusivity in the parietal lobe was higher than others. MD asymmetry in which the left was lower than the right was found in the parietal lobe, middle occipital gyrus, and medial and orbital aspects of the frontal lobe. The converse asymmetry was revealed in the frontal operculum, supplementary motor cortex, temporal lobe, limbic cortices, precuneus and cuneus. Our results revealed significant intra- and interhemispheric regional variations in MD in subcortical WM, which may be related to different densities of axons and myelin sheaths. (orig.)

  2. Intra- and interhemispheric variations of diffusivity in subcortical white matter in normal human brain

    Energy Technology Data Exchange (ETDEWEB)

    Yoshiura, Takashi; Noguchi, Tomoyuki; Hiwatashi, Akio; Togao, Osamu; Yamashita, Koji; Nagao, Eiki; Kamano, Hironori; Honda, Hiroshi [Kyushu University, Department of Clinical Radiology, Graduate School of Medical Sciences, Fukuoka (Japan)

    2010-01-15

    Our purpose was to reveal potential regional variations in water molecular diffusivity within each cerebral hemisphere and across the right and left hemispheres. Diffusion-weighted images of 44 healthy right-handed adult male subjects were obtained using a diffusion tensor imaging sequence. Mean diffusivity (MD) values in subcortical white matter (WM) within 39 regions in each hemisphere were measured using an automated method. Intrahemispheric comparisons of MDs in subcortical WM were performed among six brain regions (frontal, parietal, occipital and temporal lobes and pre- and postcentral gyri). Interhemispheric comparisons of MDs were performed between the right and left counterparts of the 39 regions. In both hemispheres, diffusivity in the precentral gyrus was lower than those in other regions, while diffusivity in the parietal lobe was higher than others. MD asymmetry in which the left was lower than the right was found in the parietal lobe, middle occipital gyrus, and medial and orbital aspects of the frontal lobe. The converse asymmetry was revealed in the frontal operculum, supplementary motor cortex, temporal lobe, limbic cortices, precuneus and cuneus. Our results revealed significant intra- and interhemispheric regional variations in MD in subcortical WM, which may be related to different densities of axons and myelin sheaths. (orig.)

  3. Common variation in ISL1 confers genetic susceptibility for human congenital heart disease.

    Directory of Open Access Journals (Sweden)

    Kristen N Stevens

    Full Text Available Congenital heart disease (CHD is the most common birth abnormality and the etiology is unknown in the overwhelming majority of cases. ISLET1 (ISL1 is a transcription factor that marks cardiac progenitor cells and generates diverse multipotent cardiovascular cell lineages. The fundamental role of ISL1 in cardiac morphogenesis makes this an exceptional candidate gene to consider as a cause of complex congenital heart disease. We evaluated whether genetic variation in ISL1 fits the common variant-common disease hypothesis. A 2-stage case-control study examined 27 polymorphisms mapping to the ISL1 locus in 300 patients with complex congenital heart disease and 2,201 healthy pediatric controls. Eight genic and flanking ISL1 SNPs were significantly associated with complex congenital heart disease. A replication study analyzed these candidate SNPs in 1,044 new cases and 3,934 independent controls and confirmed that genetic variation in ISL1 is associated with risk of non-syndromic congenital heart disease. Our results demonstrate that two different ISL1 haplotypes contribute to risk of CHD in white and black/African American populations.

  4. Experimental and analytical variation in human urine in 1H NMR spectroscopy-based metabolic phenotyping studies.

    Science.gov (United States)

    Maher, Anthony D; Zirah, Séverine F M; Holmes, Elaine; Nicholson, Jeremy K

    2007-07-15

    1H NMR spectroscopy potentially provides a robust approach for high-throughput metabolic screening of biofluids such as urine and plasma, but sample handling and preparation need careful optimization to ensure that spectra accurately report biological status or disease state. We have investigated the effects of storage temperature and time on the 1H NMR spectral profiles of human urine from two participants, collected three times a day on four different days. These were analyzed using modern chemometric methods. Analytical and preparation variation (tested between -40 degrees C and room temperature) and time of storage (to 24 h) were found to be much less influential than biological variation in sample classification. Statistical total correlation spectroscopy and discriminant function methods were used to identify the specific metabolites that were hypervariable due to preparation and biology. Significant intraindividual variation in metabolite profiles were observed even for urine collected on the same day and after at least 6 h fasting. The effect of long-term storage at different temperatures was also investigated, showing urine is stable if frozen for at least 3 months and that storage at room temperature for long periods (1-3 months) results in a metabolic profile explained by bacterial activity. Presampling (e.g., previous day) intake of food and medicine can also strongly influence the urinary metabolic profiles indicating that collective detailed participant historical meta data are important for interpretation of metabolic phenotypes and for avoiding false biomarker discovery.

  5. Recon3D enables a three-dimensional view of gene variation in human metabolism

    DEFF Research Database (Denmark)

    Brunk, Elizabeth; Sahoo, Swagatika; Zielinski, Daniel C.

    2018-01-01

    Genome-scale network reconstructions have helped uncover the molecular basis of metabolism. Here we present Recon3D, a computational resource that includes three-dimensional (3D) metabolite and protein structure data and enables integrated analyses of metabolic functions in humans. We use Recon3D...

  6. Finding the molecular basis of complex genetic variation in humans and mice

    OpenAIRE

    Mott, Richard

    2006-01-01

    I survey the state of the art in complex trait analysis, including the use of new experimental and computational technologies and resources becoming available, and the challenges facing us. I also discuss how the prospects of rodent model systems compare with association mapping in humans.

  7. Variations of Human DNA Polymerase Genes as Biomarkers of Prostate Cancer Progression

    Science.gov (United States)

    2011-07-01

    Pesche S, Latil A, Muzeau F, Cussenot O, Fournier G, Longy M, Eng C, Lidereau R. 1998. PTEN/MMAC1/TEP1 involvement in primary prostate cancers. Oncogene 16...skin fibroblasts from heterozygotes for the Lesch-Nyhan syndrome : a sensitive marker for carrier detection. Hum Hered 29:64–68. 48 HUMAN MUTATION, Vol

  8. Evidence for genetic variation in human mate preferences for sexually dimorphic physical traits

    NARCIS (Netherlands)

    Verweij, K.J.H.; Burri, A.V.; Zietsch, B.P.

    2012-01-01

    Intersexual selection has been proposed as an important force in shaping a number of morphological traits that differ between human populations and/or between the sexes. Important to these accounts is the source of mate preferences for such traits, but this has not been investigated. In a large

  9. Development and evaluation of weight and height reference ...

    African Journals Online (AJOL)

    While international reference standard exists, it has been suggested that locally generated norms would be more realistic and appropriate, especially in adults where great variations in stature among nations exist. This study was undertaken to develop a table of reference standard for weight and height for young adults in

  10. Genetic Variations in the Human Cannabinoid Receptor Gene Are Associated with Happiness

    Science.gov (United States)

    Matsunaga, Masahiro; Isowa, Tokiko; Yamakawa, Kaori; Fukuyama, Seisuke; Shinoda, Jun; Yamada, Jitsuhiro; Ohira, Hideki

    2014-01-01

    Happiness has been viewed as a temporary emotional state (e.g., pleasure) and a relatively stable state of being happy (subjective happiness level). As previous studies demonstrated that individuals with high subjective happiness level rated their current affective states more positively when they experience positive events, these two aspects of happiness are interrelated. According to a recent neuroimaging study, the cytosine to thymine single-nucleotide polymorphism of the human cannabinoid receptor 1 gene is associated with sensitivity to positive emotional stimuli. Thus, we hypothesized that our genetic traits, such as the human cannabinoid receptor 1 genotypes, are closely related to the two aspects of happiness. In Experiment 1, 198 healthy volunteers were used to compare the subjective happiness level between cytosine allele carriers and thymine-thymine carriers of the human cannabinoid receptor 1 gene. In Experiment 2, we used positron emission tomography with 20 healthy participants to compare the brain responses to positive emotional stimuli of cytosine allele carriers to that of thymine-thymine carriers. Compared to thymine-thymine carriers, cytosine allele carriers have a higher subjective happiness level. Regression analysis indicated that the cytosine allele is significantly associated with subjective happiness level. The positive mood after watching a positive film was significantly higher for the cytosine allele carriers compared to the thymine-thymine carriers. Positive emotion-related brain region such as the medial prefrontal cortex was significantly activated when the cytosine allele carriers watched the positive film compared to the thymine-thymine carriers. Thus, the human cannabinoid receptor 1 genotypes are closely related to two aspects of happiness. Compared to thymine-thymine carriers, the cytosine allele carriers of the human cannabinoid receptor 1 gene, who are sensitive to positive emotional stimuli, exhibited greater magnitude

  11. Genetic variations in the human cannabinoid receptor gene are associated with happiness.

    Directory of Open Access Journals (Sweden)

    Masahiro Matsunaga

    Full Text Available Happiness has been viewed as a temporary emotional state (e.g., pleasure and a relatively stable state of being happy (subjective happiness level. As previous studies demonstrated that individuals with high subjective happiness level rated their current affective states more positively when they experience positive events, these two aspects of happiness are interrelated. According to a recent neuroimaging study, the cytosine to thymine single-nucleotide polymorphism of the human cannabinoid receptor 1 gene is associated with sensitivity to positive emotional stimuli. Thus, we hypothesized that our genetic traits, such as the human cannabinoid receptor 1 genotypes, are closely related to the two aspects of happiness. In Experiment 1, 198 healthy volunteers were used to compare the subjective happiness level between cytosine allele carriers and thymine-thymine carriers of the human cannabinoid receptor 1 gene. In Experiment 2, we used positron emission tomography with 20 healthy participants to compare the brain responses to positive emotional stimuli of cytosine allele carriers to that of thymine-thymine carriers. Compared to thymine-thymine carriers, cytosine allele carriers have a higher subjective happiness level. Regression analysis indicated that the cytosine allele is significantly associated with subjective happiness level. The positive mood after watching a positive film was significantly higher for the cytosine allele carriers compared to the thymine-thymine carriers. Positive emotion-related brain region such as the medial prefrontal cortex was significantly activated when the cytosine allele carriers watched the positive film compared to the thymine-thymine carriers. Thus, the human cannabinoid receptor 1 genotypes are closely related to two aspects of happiness. Compared to thymine-thymine carriers, the cytosine allele carriers of the human cannabinoid receptor 1 gene, who are sensitive to positive emotional stimuli, exhibited greater

  12. Genetic variations in the human cannabinoid receptor gene are associated with happiness.

    Science.gov (United States)

    Matsunaga, Masahiro; Isowa, Tokiko; Yamakawa, Kaori; Fukuyama, Seisuke; Shinoda, Jun; Yamada, Jitsuhiro; Ohira, Hideki

    2014-01-01

    Happiness has been viewed as a temporary emotional state (e.g., pleasure) and a relatively stable state of being happy (subjective happiness level). As previous studies demonstrated that individuals with high subjective happiness level rated their current affective states more positively when they experience positive events, these two aspects of happiness are interrelated. According to a recent neuroimaging study, the cytosine to thymine single-nucleotide polymorphism of the human cannabinoid receptor 1 gene is associated with sensitivity to positive emotional stimuli. Thus, we hypothesized that our genetic traits, such as the human cannabinoid receptor 1 genotypes, are closely related to the two aspects of happiness. In Experiment 1, 198 healthy volunteers were used to compare the subjective happiness level between cytosine allele carriers and thymine-thymine carriers of the human cannabinoid receptor 1 gene. In Experiment 2, we used positron emission tomography with 20 healthy participants to compare the brain responses to positive emotional stimuli of cytosine allele carriers to that of thymine-thymine carriers. Compared to thymine-thymine carriers, cytosine allele carriers have a higher subjective happiness level. Regression analysis indicated that the cytosine allele is significantly associated with subjective happiness level. The positive mood after watching a positive film was significantly higher for the cytosine allele carriers compared to the thymine-thymine carriers. Positive emotion-related brain region such as the medial prefrontal cortex was significantly activated when the cytosine allele carriers watched the positive film compared to the thymine-thymine carriers. Thus, the human cannabinoid receptor 1 genotypes are closely related to two aspects of happiness. Compared to thymine-thymine carriers, the cytosine allele carriers of the human cannabinoid receptor 1 gene, who are sensitive to positive emotional stimuli, exhibited greater magnitude

  13. Effect of genetic variation in a Drosophila model of diabetes-associated misfolded human proinsulin.

    Science.gov (United States)

    He, Bin Z; Ludwig, Michael Z; Dickerson, Desiree A; Barse, Levi; Arun, Bharath; Vilhjálmsson, Bjarni J; Jiang, Pengyao; Park, Soo-Young; Tamarina, Natalia A; Selleck, Scott B; Wittkopp, Patricia J; Bell, Graeme I; Kreitman, Martin

    2014-02-01

    The identification and validation of gene-gene interactions is a major challenge in human studies. Here, we explore an approach for studying epistasis in humans using a Drosophila melanogaster model of neonatal diabetes mellitus. Expression of the mutant preproinsulin (hINS(C96Y)) in the eye imaginal disc mimics the human disease: it activates conserved stress-response pathways and leads to cell death (reduction in eye area). Dominant-acting variants in wild-derived inbred lines from the Drosophila Genetics Reference Panel produce a continuous, highly heritable distribution of eye-degeneration phenotypes in a hINS(C96Y) background. A genome-wide association study (GWAS) in 154 sequenced lines identified a sharp peak on chromosome 3L, which mapped to a 400-bp linkage block within an intron of the gene sulfateless (sfl). RNAi knockdown of sfl enhanced the eye-degeneration phenotype in a mutant-hINS-dependent manner. RNAi against two additional genes in the heparan sulfate (HS) biosynthetic pathway (ttv and botv), in which sfl acts, also modified the eye phenotype in a hINS(C96Y)-dependent manner, strongly suggesting a novel link between HS-modified proteins and cellular responses to misfolded proteins. Finally, we evaluated allele-specific expression difference between the two major sfl-intronic haplotypes in heterozygtes. The results showed significant heterogeneity in marker-associated gene expression, thereby leaving the causal mutation(s) and its mechanism unidentified. In conclusion, the ability to create a model of human genetic disease, map a QTL by GWAS to a specific gene, and validate its contribution to disease with available genetic resources and the potential to experimentally link the variant to a molecular mechanism demonstrate the many advantages Drosophila holds in determining the genetic underpinnings of human disease.

  14. Quantitative historical analysis uncovers a single dimension of complexity that structures global variation in human social organization

    Science.gov (United States)

    Turchin, Peter; Currie, Thomas E.; Whitehouse, Harvey; François, Pieter; Feeney, Kevin; Mullins, Daniel; Hoyer, Daniel; Collins, Christina; Grohmann, Stephanie; Mendel-Gleason, Gavin; Turner, Edward; Dupeyron, Agathe; Cioni, Enrico; Reddish, Jenny; Levine, Jill; Jordan, Greine; Brandl, Eva; Williams, Alice; Cesaretti, Rudolf; Krueger, Marta; Ceccarelli, Alessandro; Figliulo-Rosswurm, Joe; Tuan, Po-Ju; Peregrine, Peter; Marciniak, Arkadiusz; Preiser-Kapeller, Johannes; Kradin, Nikolay; Korotayev, Andrey; Palmisano, Alessio; Baker, David; Bidmead, Julye; Bol, Peter; Christian, David; Cook, Connie; Covey, Alan; Feinman, Gary; Júlíusson, Árni Daníel; Kristinsson, Axel; Miksic, John; Mostern, Ruth; Petrie, Cameron; Rudiak-Gould, Peter; ter Haar, Barend; Wallace, Vesna; Mair, Victor; Xie, Liye; Baines, John; Bridges, Elizabeth; Manning, Joseph; Lockhart, Bruce; Bogaard, Amy; Spencer, Charles

    2018-01-01

    Do human societies from around the world exhibit similarities in the way that they are structured, and show commonalities in the ways that they have evolved? These are long-standing questions that have proven difficult to answer. To test between competing hypotheses, we constructed a massive repository of historical and archaeological information known as “Seshat: Global History Databank.” We systematically coded data on 414 societies from 30 regions around the world spanning the last 10,000 years. We were able to capture information on 51 variables reflecting nine characteristics of human societies, such as social scale, economy, features of governance, and information systems. Our analyses revealed that these different characteristics show strong relationships with each other and that a single principal component captures around three-quarters of the observed variation. Furthermore, we found that different characteristics of social complexity are highly predictable across different world regions. These results suggest that key aspects of social organization are functionally related and do indeed coevolve in predictable ways. Our findings highlight the power of the sciences and humanities working together to rigorously test hypotheses about general rules that may have shaped human history. PMID:29269395

  15. Oxytocin receptor genetic variation relates to empathy and stress reactivity in humans.

    Science.gov (United States)

    Rodrigues, Sarina M; Saslow, Laura R; Garcia, Natalia; John, Oliver P; Keltner, Dacher

    2009-12-15

    Oxytocin, a peptide that functions as both a hormone and neurotransmitter, has broad influences on social and emotional processing throughout the body and the brain. In this study, we tested how a polymorphism (rs53576) of the oxytocin receptor relates to two key social processes related to oxytocin: empathy and stress reactivity. Compared with individuals homozygous for the G allele of rs53576 (GG), individuals with one or two copies of the A allele (AG/AA) exhibited lower behavioral and dispositional empathy, as measured by the "Reading the Mind in the Eyes" Test and an other-oriented empathy scale. Furthermore, AA/AG individuals displayed higher physiological and dispositional stress reactivity than GG individuals, as determined by heart rate response during a startle anticipation task and an affective reactivity scale. Our results provide evidence of how a naturally occurring genetic variation of the oxytocin receptor relates to both empathy and stress profiles.

  16. Response of Plant Height, Species Richness and Aboveground Biomass to Flooding Gradient along Vegetation Zones in Floodplain Wetlands, Northeast China.

    Science.gov (United States)

    Lou, Yanjing; Pan, Yanwen; Gao, Chuanyu; Jiang, Ming; Lu, Xianguo; Xu, Y Jun

    2016-01-01

    Flooding regime changes resulting from natural and human activity have been projected to affect wetland plant community structures and functions. It is therefore important to conduct investigations across a range of flooding gradients to assess the impact of flooding depth on wetland vegetation. We conducted this study to identify the pattern of plant height, species richness and aboveground biomass variation along the flooding gradient in floodplain wetlands located in Northeast China. We found that the response of dominant species height to the flooding gradient depends on specific species, i.e., a quadratic response for Carex lasiocarpa, a negative correlation for Calamagrostis angustifolia, and no response for Carex appendiculata. Species richness showed an intermediate effect along the vegetation zone from marsh to wet meadow while aboveground biomass increased. When the communities were analysed separately, only the water table depth had significant impact on species richness for two Carex communities and no variable for C. angustifolia community, while height of dominant species influenced aboveground biomass. When the three above-mentioned communities were grouped together, variations in species richness were mainly determined by community type, water table depth and community mean height, while variations in aboveground biomass were driven by community type and the height of dominant species. These findings indicate that if habitat drying of these herbaceous wetlands in this region continues, then two Carex marshes would be replaced gradually by C. angustifolia wet meadow in the near future. This will lead to a reduction in biodiversity and an increase in productivity and carbon budget. Meanwhile, functional traits must be considered, and should be a focus of attention in future studies on the species diversity and ecosystem function in this region.

  17. Response of Plant Height, Species Richness and Aboveground Biomass to Flooding Gradient along Vegetation Zones in Floodplain Wetlands, Northeast China

    Science.gov (United States)

    Lou, Yanjing; Pan, Yanwen; Gao, Chuanyu; Jiang, Ming; Lu, Xianguo; Xu, Y. Jun

    2016-01-01

    Flooding regime changes resulting from natural and human activity have been projected to affect wetland plant community structures and functions. It is therefore important to conduct investigations across a range of flooding gradients to assess the impact of flooding depth on wetland vegetation. We conducted this study to identify the pattern of plant height, species richness and aboveground biomass variation along the flooding gradient in floodplain wetlands located in Northeast China. We found that the response of dominant species height to the flooding gradient depends on specific species, i.e., a quadratic response for Carex lasiocarpa, a negative correlation for Calamagrostis angustifolia, and no response for Carex appendiculata. Species richness showed an intermediate effect along the vegetation zone from marsh to wet meadow while aboveground biomass increased. When the communities were analysed separately, only the water table depth had significant impact on species richness for two Carex communities and no variable for C. angustifolia community, while height of dominant species influenced aboveground biomass. When the three above-mentioned communities were grouped together, variations in species richness were mainly determined by community type, water table depth and community mean height, while variations in aboveground biomass were driven by community type and the height of dominant species. These findings indicate that if habitat drying of these herbaceous wetlands in this region continues, then two Carex marshes would be replaced gradually by C. angustifolia wet meadow in the near future. This will lead to a reduction in biodiversity and an increase in productivity and carbon budget. Meanwhile, functional traits must be considered, and should be a focus of attention in future studies on the species diversity and ecosystem function in this region. PMID:27097325

  18. Population-genetic nature of copy number variations in the human genome.

    Science.gov (United States)

    Kato, Mamoru; Kawaguchi, Takahisa; Ishikawa, Shumpei; Umeda, Takayoshi; Nakamichi, Reiichiro; Shapero, Michael H; Jones, Keith W; Nakamura, Yusuke; Aburatani, Hiroyuki; Tsunoda, Tatsuhiko

    2010-03-01

    Copy number variations (CNVs) are universal genetic variations, and their association with disease has been increasingly recognized. We designed high-density microarrays for CNVs, and detected 3000-4000 CNVs (4-6% of the genomic sequence) per population that included CNVs previously missed because of smaller sizes and residing in segmental duplications. The patterns of CNVs across individuals were surprisingly simple at the kilo-base scale, suggesting the applicability of a simple genetic analysis for these genetic loci. We utilized the probabilistic theory to determine integer copy numbers of CNVs and employed a recently developed phasing tool to estimate the population frequencies of integer copy number alleles and CNV-SNP haplotypes. The results showed a tendency toward a lower frequency of CNV alleles and that most of our CNVs were explained only by zero-, one- and two-copy alleles. Using the estimated population frequencies, we found several CNV regions with exceptionally high population differentiation. Investigation of CNV-SNP linkage disequilibrium (LD) for 500-900 bi- and multi-allelic CNVs per population revealed that previous conflicting reports on bi-allelic LD were unexpectedly consistent and explained by an LD increase correlated with deletion-allele frequencies. Typically, the bi-allelic LD was lower than SNP-SNP LD, whereas the multi-allelic LD was somewhat stronger than the bi-allelic LD. After further investigation of tag SNPs for CNVs, we conclude that the customary tagging strategy for disease association studies can be applicable for common deletion CNVs, but direct interrogation is needed for other types of CNVs.

  19. Human cerebral cortices: signal variation on diffusion-weighted MR imaging

    Energy Technology Data Exchange (ETDEWEB)

    Asao, Chiaki [Kumamoto Regional Medical Center, Department of Radiology, Kumamoto (Japan); National Hospital Organization Kumamoto Medical Center, Department of Radiology, Kumamoto (Japan); Hirai, Toshinori; Yamashita, Yasuyuki [Kumamoto University Graduate School of Medical Sciences, Department of Diagnostic Radiology, Kumamoto (Japan); Yoshimatsu, Shunji [National Hospital Organization Kumamoto Medical Center, Department of Radiology, Kumamoto (Japan); Matsukawa, Tetsuya; Imuta, Masanori [Kumamoto Regional Medical Center, Department of Radiology, Kumamoto (Japan); Sagara, Katsuro [Kumamoto Regional Medical Center, Department of Internal Medicine, Kumamoto (Japan)

    2008-03-15

    We have often encountered high signal intensity (SI) of the cingulate gyrus and insula during diffusion-weighted magnetic resonance imaging (DW-MRI) on neurologically healthy adults. To date, cortical signal heterogeneity on DW images has not been investigated systematically. The purpose of our study was to determine whether there is regional signal variation in the brain cortices of neurologically healthy adults on DW-MR images. The SI of the cerebral cortices on DW-MR images at 1.5 T was evaluated in 50 neurologically healthy subjects (34 men, 16 women; age range 33-84 years; mean age 57.6 years). The cortical SI in the cingulate gyrus, insula, and temporal, occipital, and parietal lobes was graded relative to the SI of the frontal lobe. Contrast-to-noise ratios (CNRs) on DW-MR images were compared for each cortical area. Diffusion changes were analyzed by visually assessment of the differences in appearance among the cortices on apparent diffusion coefficient (ADC) maps. Increased SI was frequently seen in the cingulate gyrus and insula regardless of patient age. There were no significant gender- or laterality-related differences. The CNR was significantly higher in the cingulate gyrus and insula than in the other cortices (p <.01), and significant differences existed among the cortical regions (p <.001). There were no apparent ADC differences among the cortices on ADC maps. Regional signal variation of the brain cortices was observed on DW-MR images of healthy subjects, and the cingulate gyrus and insula frequently manifested high SI. These findings may help in the recognition of cortical signal abnormalities as visualized on DW-MR images. (orig.)

  20. Human cerebral cortices: signal variation on diffusion-weighted MR imaging

    International Nuclear Information System (INIS)

    Asao, Chiaki; Hirai, Toshinori; Yamashita, Yasuyuki; Yoshimatsu, Shunji; Matsukawa, Tetsuya; Imuta, Masanori; Sagara, Katsuro

    2008-01-01

    We have often encountered high signal intensity (SI) of the cingulate gyrus and insula during diffusion-weighted magnetic resonance imaging (DW-MRI) on neurologically healthy adults. To date, cortical signal heterogeneity on DW images has not been investigated systematically. The purpose of our study was to determine whether there is regional signal variation in the brain cortices of neurologically healthy adults on DW-MR images. The SI of the cerebral cortices on DW-MR images at 1.5 T was evaluated in 50 neurologically healthy subjects (34 men, 16 women; age range 33-84 years; mean age 57.6 years). The cortical SI in the cingulate gyrus, insula, and temporal, occipital, and parietal lobes was graded relative to the SI of the frontal lobe. Contrast-to-noise ratios (CNRs) on DW-MR images were compared for each cortical area. Diffusion changes were analyzed by visually assessment of the differences in appearance among the cortices on apparent diffusion coefficient (ADC) maps. Increased SI was frequently seen in the cingulate gyrus and insula regardless of patient age. There were no significant gender- or laterality-related differences. The CNR was significantly higher in the cingulate gyrus and insula than in the other cortices (p <.01), and significant differences existed among the cortical regions (p <.001). There were no apparent ADC differences among the cortices on ADC maps. Regional signal variation of the brain cortices was observed on DW-MR images of healthy subjects, and the cingulate gyrus and insula frequently manifested high SI. These findings may help in the recognition of cortical signal abnormalities as visualized on DW-MR images. (orig.)

  1. Investigation of the daily variation in iodine and creatinine excretion in human urine

    International Nuclear Information System (INIS)

    Aabech, H.S.

    1975-08-01

    Continuing earlier investigations of the level of iodine intake in Norway, the excretion of iodine in 24-hour samples of urine over 7 days has been measured for 23 persons. Three of them collected 24-hour samples of urine during continuous periods of 21, 22 and 54 days. The main aim of the investigation was to study the diurnal variation of iodine excretion , and to correlate it with diet components when connection was suspected. To this end the persons had to keep record of the diet, especially with respect to fish and fish products. The variation from day to day of the iodine excretion was much greater than expected, and the highest values were always preceded by meals of sea-fish. Mean 24-hour iodine excretion from 13 males was 266 μg/24h (range 54-2272), from 8 females 154 μg/24h (range 58-627), and from 2 children 74 μg/24h (range 33-129). Large fluctuations were present, as indicated by standard deviations that varied from 12 to 119% of the mean. None of the persons had a mean 24-hour excretion lower than the advised minimum of 1 μg iodine/kg b w. The excretion of creatinine has also been measured, and the excretion from day to day showed large fluctuations for some of the persons. In 13 males the mean 24-hour excretion of creatinine was 1.88 gram (range 0.81-2.93), and in 8 females 1.17 gram (range 0.47-1.74). In one person, who collected urine during a period of 54 days, the mean excretion of creatinine was 1.80 gram (range 1.19-2.75). (auth.)

  2. Age variations in the properties of human tibial trabecular bone and cartilage

    DEFF Research Database (Denmark)

    Ding, Ming

    2000-01-01

    , such as apparent, apparent ash and collagen densities of human tibial trabecular bone have significant relationships with age. Tissue density and mineral concentration remain constant throughout life. Trabecular bone is tougher in the younger age, i.e. fracture requires more energy. Collagen density was the single......Initiated and motivated by clinical and scientific problems such as age-related bone fracture, prosthetic loosening, bone remodeling, and degenerative bone diseases, much significant research on the properties of trabecular bone has been carried out over the last two decades. This work has mainly...... focused on the central vertebral trabecular bone, while little is known about age-related changes in the properties of human peripheral (tibial) trabecular bone. Knowledge of the properties of peripheral (tibial) trabecular bone is of major importance for the understanding of degenerative diseases...

  3. Human upper limb manipulator mass center motion and mass moments of inertia variation

    Directory of Open Access Journals (Sweden)

    Nikolova Gergana

    2018-01-01

    Full Text Available Motion control is complicated for people having traumas or neurological diseases. An underlying assumption in our work is that the motion of healthy people is optimal with respect to positioning accuracy, movement response, and energy expenditure. In this paper, a new approach for determination of the human upper limb mass-inertial characteristics is presented by using the 3D geometrical mathematical modeling analysis approach. Two examples will be given to illustrate the main features and advantages of the proposed design concepts. The objective of the work presented in this paper is a determination of the mass properties of a two joints human upper limb manipulator. Results are aimed to have application in an exoskeleton design, the design of manipulation system and external manipulation system, serving people with some motion difficulties, as well as in sport and rehabilitation.

  4. Transferrin receptors on human reticulocytes: variation in site number in hematologic disorders

    International Nuclear Information System (INIS)

    Shumak, K.H.; Rachkewich, R.A.

    1984-01-01

    Assays of binding of 125iodine-labeled ( 125 I) human transferrin were used to study transferrin receptor sites on reticulocytes from 15 normal subjects and from 66 patients with various hematologic disorders. In normal subjects, few or no transferrin receptors were detected whereas the average number of receptors per reticulocyte varied greatly from patient to patient, ranging from 0 to 67,700 in samples, from 35 patients, on which Scatchard analysis of binding of [ 125 I]-transferrin was done. Marked heterogeneity in the number of reticulocyte transferrin receptors in different hematologic disorders was also found in assays with [ 125 I]-OKT9 (monoclonal antibody to the human transferrin receptor). The number of receptors was not correlated with either the reticulocyte count or the hemoglobin

  5. Nocturnal variations in peripheral blood flow, systemic blood pressure, and heart rate in humans

    DEFF Research Database (Denmark)

    Sindrup, J H; Kastrup, J; Christensen, H

    1991-01-01

    Subcutaneous adipose tissue blood flow rate, together with systemic arterial blood pressure and heart rate under ambulatory conditions, was measured in the lower legs of 15 normal human subjects for 12-20 h. The 133Xe-washout technique, portable CdTe(Cl) detectors, and a portable data storage uni.......0001). The synchronism of the nocturnal subcutaneous hyperemia and the decrease in systemic mean arterial blood pressure point to a common, possibly central nervous or humoral, eliciting mechanism.......Subcutaneous adipose tissue blood flow rate, together with systemic arterial blood pressure and heart rate under ambulatory conditions, was measured in the lower legs of 15 normal human subjects for 12-20 h. The 133Xe-washout technique, portable CdTe(Cl) detectors, and a portable data storage unit...

  6. Striatal dopamine release and genetic variation of the serotonin 2C receptor in humans

    OpenAIRE

    Mickey, Brian J; Sanford, Benjamin J; Love, Tiffany M; Shen, Pei-Hong; Hodgkinson, Colin; Stohler, Christian S; Goldman, David; Zubieta, Jon-Kar

    2012-01-01

    Mesoaccumbal and nigrostriatal projections are sensitive to stress, and heightened stress sensitivity is thought to confer risk for neuropsychiatric disorders. Serotonin 2C (5-HT2C) receptors mediate the inhibitory effects of serotonin on dopaminergic circuitry in experimental animals, and preclinical findings have implicated 5-HT2C receptors in motivated behaviors and psychotropic drug mechanisms. In humans, a common missense single-nucleotide change (rs6318, Cys23Ser) in the 5-HT2C receptor...

  7. Human Immunodeficiency Virus (HIV) Infections; Strain and Type Variations; Diagnosis and Prevention.

    Science.gov (United States)

    1992-10-26

    Scarlatti et al. 1992 (41) 1 1 Arendrup et al. 1992 (42) SIVsm/monkey 7 0 Zhang et al. manuscript (43) B) Sequential samples: serum collected >6 months...983-990. 1991. 12. Scarlatti , G, Lombardi, V, Plebani, A, Principi, N, Chiara, V, Ferraris, G, Bucceri, A, Feny6, E M, Wigzell, H, Rossi, P, and...envelope glycoprotein gp125 of human immunodeficiency virus type2. Manuscript. M2. Scarlatti , G, Albert, J, Rossi, P, Hodara, V, Biraghi, P, Muggiasca

  8. Global and disease-associated genetic variation in the human Fanconi anemia gene family

    OpenAIRE

    Rogers, Kai J.; Fu, Wenqing; Akey, Joshua M.; Monnat, Raymond J.

    2014-01-01

    Fanconi anemia (FA) is a human recessive genetic disease resulting from inactivating mutations in any of 16 FANC (Fanconi) genes. Individuals with FA are at high risk of developmental abnormalities, early bone marrow failure and leukemia. These are followed in the second and subsequent decades by a very high risk of carcinomas of the head and neck and anogenital region, and a small continuing risk of leukemia. In order to characterize base pair-level disease-associated (DA) and population gen...

  9. Age-related variations in the microstructure of human tibial cancellous bone

    DEFF Research Database (Denmark)

    Ding, M.; Odgaard, A.; Linde, F.

    2002-01-01

    -related changes in the three-dimensional (3D) microstructure of human tibial cancellous bone. One hundred and sixty cylindrical cancellous bone specimens were produced from 40 normal proximal tibiae from 40 donors, aged 16-85 years. These specimens were micro-computed tomography (micro-CT) scanned......, and microstructural properties were determined. The specimens were then tested in compression to obtain Young's modulus. The degree of anisotropy, mean marrow space volume, and bone surface-to-volume ratio increased significantly with age. Bone volume fraction, mean trabecular volume, and bone surface density...

  10. Diurnal Variations of Human Circulating Cell-Free Micro-RNA

    DEFF Research Database (Denmark)

    Heegaard, Niels H H; Carlsen, Anting Liu; Lilje, Berit

    2016-01-01

    A 24-hour light and dark cycle-dependent rhythmicity pervades physiological processes in virtually all living organisms including humans. These regular oscillations are caused by external cues to endogenous, independent biological time-keeping systems (clocks). The rhythm is reflected by gene...... expression that varies in a circadian and specific fashion in different organs and tissues and is regulated largely by dynamic epigenetic and post-transcriptional mechanisms. This leads to well-documented oscillations of specific electrolytes, hormones, metabolites, and plasma proteins in blood samples...

  11. Variations and voids: the regulation of human cloning around the world.

    Science.gov (United States)

    Pattinson, Shaun D; Caulfield, Timothy

    2004-12-13

    No two countries have adopted identical regulatory measures on cloning. Understanding the complexity of these regulatory variations is essential. It highlights the challenges associated with the regulation of a controversial and rapidly evolving area of science and sheds light on a regulatory framework that can accommodate this reality. Using the most reliable information available, we have performed a survey of the regulatory position of thirty countries around the world regarding the creation and use of cloned embryos (see Table 1). We have relied on original and translated legislation, as well as published sources and personal communications. We have examined the regulation of both reproductive cloning (RC) and non-reproductive cloning (NRC). While most of the countries studied have enacted national legislation, the absence of legislation in seven of these countries should not be equated with the absence of regulation. Senator Morin was not correct in stating that the majority of recent legislation bans both RC and NRC. Recent regulatory moves are united only with regard to the banning of RC. While NRC is not permitted in seventeen of the countries examined, it could be permitted in up to thirteen countries. There is little consensus on the various approaches to cloning laws and policies, and the regulatory position in many countries remains uncertain.

  12. Variations and voids: the regulation of human cloning around the world

    Directory of Open Access Journals (Sweden)

    Caulfield Timothy

    2004-12-01

    Full Text Available Abstract Background No two countries have adopted identical regulatory measures on cloning. Understanding the complexity of these regulatory variations is essential. It highlights the challenges associated with the regulation of a controversial and rapidly evolving area of science and sheds light on a regulatory framework that can accommodate this reality. Methods Using the most reliable information available, we have performed a survey of the regulatory position of thirty countries around the world regarding the creation and use of cloned embryos (see Table 1. We have relied on original and translated legislation, as well as published sources and personal communications. We have examined the regulation of both reproductive cloning (RC and non-reproductive cloning (NRC. Results While most of the countries studied have enacted national legislation, the absence of legislation in seven of these countries should not be equated with the absence of regulation. Senator Morin was not correct in stating that the majority of recent legislation bans both RC and NRC. Recent regulatory moves are united only with regard to the banning of RC. While NRC is not permitted in seventeen of the countries examined, it could be permitted in up to thirteen countries. Conclusions There is little consensus on the various approaches to cloning laws and policies, and the regulatory position in many countries remains uncertain.

  13. Brief communication: Population variation in human maxillary premolar accessory ridges (MxPAR).

    Science.gov (United States)

    Burnett, Scott E; Hawkey, Diane E; Turner, Christy G

    2010-02-01

    The purpose of this brief communication is to report the results of an analysis of maxillary premolar accessory ridges (MxPAR), a common but understudied accessory ridge that may occur both mesial and distal to the central ridge of the buccal cusp of upper premolars. We developed a new five-grade scoring plaque to better categorize MxPAR variation. Subsequently, we conducted a population analysis of MxPAR frequency in 749 dental casts of South African Indian, American Chinese, Alaskan Eskimo, Tohono O'odham (Papago), Akimel O'odham (Pima), Solomon Islander, South African Bantu, and both American and South African Whites. Northeast Asian and Asian-derived populations exhibited the highest MxPAR frequencies while Indo-European samples (South African Indians, American and South African Whites) exhibited relatively low frequencies. The Solomon Islanders and South African Bantu samples exhibited intermediate frequencies. Our analysis indicates that statistically significant differences in MxPAR frequency exist between major geographic populations. As a result, the MxPAR plaque has now been added to the Arizona State University Dental Anthropology System, an important contribution as maxillary premolar traits are underrepresented in analyses of dental morphology. 2009 Wiley-Liss, Inc.

  14. Changes in radiation dose with variations in human anatomy: moderately and severely obese adults.

    Science.gov (United States)

    Clark, Landon D; Stabin, Michael G; Fernald, Michael J; Brill, Aaron B

    2010-06-01

    The phantoms used in standardized dose assessment are based on a median (i.e., 50th percentile) individual of a large population, for example, adult males or females or children of a particular age. Here we describe phantoms that model instead the influence of obesity on specific absorbed fractions (SAFs) and dose factors in adults. The literature was reviewed to evaluate how individual organ sizes change with variations in body weight in mildly and severely obese adult men and women. On the basis of the literature evaluation, changes were made to our deformable reference adult male and female total-body models. Monte Carlo simulations of radiation transport were performed. SAFs for photons were generated for mildly and severely obese adults, and comparisons were made to the reference (50th) percentile SAF values. SAFs studied between the obese phantoms and the 50th percentile reference phantoms were not significantly different from the reference 50th percentile individual, with the exception of intestines irradiating some abdominal organs, because of an increase in separation between folds caused by an increase in mesenteric adipose deposits. Some low-energy values for certain organ pairs were different, possibly due only to the statistical variability of the data at these low energies. The effect of obesity on dose calculations for internal emitters is minor and may be neglected in the routine use of standardized dose estimates.

  15. Normal variations in the isotopic composition of metabolically relevant transition metals in human blood

    Science.gov (United States)

    Van Heghe, L.; Cloquet, C.; Vanhaecke, F.

    2012-04-01

    Cu, Fe and Zn are transition metals with great catalytic, structural and regulating importance in the human body. Hence, an aberrant metabolism of these elements can have serious implications on the health of a person. It is assumed that, due to differences in isotope fractionation, the isotopic composition of these elements in whole blood of patients can be different from that in blood of healthy subjects. Therefore, isotopic analysis of the element affected by the disease can be a promising approach for early diagnosis. A method for isotopic analysis of Cu, Fe and Zn in human whole blood was developed. The simultaneous chromatographic isolation of these elements and the conditions for isotope ratio measurement via multi-collector ICP - mass spectrometry (MC-ICP-MS) were optimized. So far, only whole blood of supposedly healthy volunteers (reference population) was analyzed. Results for Fe confirmed the known differences in isotopic composition between male and female blood. It is also shown that other parameters can have influence as well, e.g., the isotopic composition of Zn seems to be governed by the diet.

  16. Variation of Human Hairiness: A Possible Adaptation to Solar Radiation and Melanin

    Directory of Open Access Journals (Sweden)

    Dhugga Amrita

    2014-07-01

    Full Text Available Many theories have been advanced to explain human hairlessness, however, there is no consensus. This study of 76 males observed that skin reflectance measuring skin colouration and melanin pigmentation correlated with hair size and follicle density. Individuals with a greater concentration of melanin within the superficial layer of the skin had a lower follicle density and smaller sizes of hairs. In contrast, individuals with a lower melanin concentration and lighter skin colour had a full range of hairiness. This leads to the suggestion that over the course of human evolution, high concentrations of melanin in consistently exposed to ultraviolet radiation areas developed first and that hair loss was a consequence of competition in the skin between melanin production and hair growth. Darker pigmented skin and lower follicle density are significantly correlated (R2=0.283; p<0.05. Individuals with darker skin had a mean of 4.91 follicles per cm2 whereas those with lighter skin reflectance had 11.20 follicles per cm2. This suggests that increased concentrations of melanin in the basal layer of the epidermis may limit hairiness by negatively influencing the skin's ability to produce hair.

  17. EFFECTS OF HUMAN IMPACTS AND CLIMATE VARIATION ON FORESTS: THE RIETI BASIN SINCE MEDIEVAL TIME

    Directory of Open Access Journals (Sweden)

    S. Mensing

    2013-03-01

    Full Text Available A number of recent paleoenvironmental studies have argued that abrupt changes in climate have been the primary cause for societal collapse. Many social scientists, including anthropologists and environmental historians, reject environmental explanations as deterministic and overly simplistic. They argue that socio-political decisions contribute to environmental change and that efforts to study societal vulnerability within a human-environment system must include analysis of complex social structures. There is a gap in our understanding of how past societies responded to climate change because there are very few interdisciplinary studies that integrate both physical and behavioral sciences in paleoenvironmental reconstructions. While there is a general sense that modern societies are more insulated than pre-industrial societies from the effects of climate change, this may not prove to be true. A more complete understanding of how both natural and human-caused changes have affected the environment in the past can potentially guide decisions aimed at promoting future sustainability. Here we present a project funded by the United States National Science Foundation that will explicitly integrate paleoenvironmental reconstruction with socioeconomic history in a local context to identify linkages between social and environmental change associated with climate variability.

  18. Genetic variation in polyunsaturated fatty acid metabolism and its potential relevance for human development and health.

    Science.gov (United States)

    Glaser, Claudia; Lattka, Eva; Rzehak, Peter; Steer, Colin; Koletzko, Berthold

    2011-04-01

    Blood and tissue contents of polyunsaturated fatty acid (PUFA) and long-chain PUFA (LC-PUFA) are related to numerous health outcomes including cardiovascular health, allergies, mental health and cognitive development. Evidence has accumulated to show that in addition to diet, common polymorphisms in the fatty acid desaturase (FADS) gene cluster have very marked effects on human PUFA and LC-PUFA status. Recent results suggest that in addition to fatty acid desaturase 1 and fatty acid desaturase 2, the gene product of fatty acid desaturase 3 is associated with desaturating activity. New data have become available to show that FADS single nucleotide polymorphisms (SNPs) also modulate docosahexaenoic acid status in pregnancy as well as LC-PUFA levels in children and in human milk. There are indications that FADS SNPs modulate the risk for allergic disorders and eczema, and the effect of breastfeeding on later cognitive development. Mechanisms by which FADS SNPs modulate PUFA levels in blood, breast milk and tissues should be explored further. More studies are required to explore the effects of FADS gene variants in populations with different ethnic backgrounds, lifestyles and dietary habits, and to investigate in greater depth the interaction of gene variants, diet and clinical end points, including immune response and developmental outcomes. Analyses of FADS gene variants should be included into all sizeable cohort and intervention studies addressing biological effects of PUFA and LC-PUFA in order to consider these important confounders, and to enhance study sensitivity and precision. © 2011 Blackwell Publishing Ltd.

  19. Investigating the sex-related geometric variation of the human cranium.

    Science.gov (United States)

    Bertsatos, Andreas; Papageorgopoulou, Christina; Valakos, Efstratios; Chovalopoulou, Maria-Eleni

    2018-01-29

    Accurate sexing methods are of great importance in forensic anthropology since sex assessment is among the principal tasks when examining human skeletal remains. The present study explores a novel approach in assessing the most accurate metric traits of the human cranium for sex estimation based on 80 ectocranial landmarks from 176 modern individuals of known age and sex from the Athens Collection. The purpose of the study is to identify those distance and angle measurements that can be most effectively used in sex assessment. Three-dimensional landmark coordinates were digitized with a Microscribe 3DX and analyzed in GNU Octave. An iterative linear discriminant analysis of all possible combinations of landmarks was performed for each unique set of the 3160 distances and 246,480 angles. Cross-validated correct classification as well as multivariate DFA on top performing variables reported 13 craniometric distances with over 85% classification accuracy, 7 angles over 78%, as well as certain multivariate combinations yielding over 95%. Linear regression of these variables with the centroid size was used to assess their relation to the size of the cranium. In contrast to the use of generalized procrustes analysis (GPA) and principal component analysis (PCA), which constitute the common analytical work flow for such data, our method, although computational intensive, produced easily applicable discriminant functions of high accuracy, while at the same time explored the maximum of cranial variability.

  20. Can height categories replace weight categories in striking martial arts competitions? A pilot study.

    Science.gov (United States)

    Dubnov-Raz, Gal; Mashiach-Arazi, Yael; Nouriel, Ariella; Raz, Raanan; Constantini, Naama W

    2015-09-29

    In most combat sports and martial arts, athletes compete within weight categories. Disordered eating behaviors and intentional pre-competition rapid weight loss are commonly seen in this population, attributed to weight categorization. We examined if height categories can be used as an alternative to weight categories for competition, in order to protect the health of athletes. Height and weight of 169 child and adolescent competitive karate athletes were measured. Participants were divided into eleven hypothetical weight categories of 5 kg increments, and eleven hypothetical height categories of 5 cm increments. We calculated the coefficient of variation of height and weight by each division method. We also calculated how many participants fit into corresponding categories of both height and weight, and how many would shift a category if divided by height. There was a high correlation between height and weight (r = 0.91, p<0.001). The mean range of heights seen within current weight categories was reduced by 83% when participants were divided by height. When allocating athletes by height categories, 74% of athletes would shift up or down one weight category at most, compared with the current categorization method. We conclude that dividing young karate athletes by height categories significantly reduced the range of heights of competitors within the category. Such categorization would not cause athletes to compete against much heavier opponents in most cases. Using height categories as a means to reduce eating disorders in combat sports should be further examined.

  1. Intraskeletal variation in human cortical osteocyte lacunar density: Implications for bone quality assessment

    Directory of Open Access Journals (Sweden)

    Randee L. Hunter

    2016-12-01

    Full Text Available Osteocytes and their lacunocanalicular network have been identified as the regulator of bone quality and function by exerting extensive influence over metabolic processes, mechanical adaptation, and mineral homeostasis. Recent research has shown that osteocyte apoptosis leads to a decrease in bone quality and increase in bone fragility mediated through its effects on remodeling. The purpose of this study is to investigate variation in cortical bone osteocyte lacunar density with respect to major factors including sex, age, and intracortical porosity to establish both regional and systemic trends. Samples from the midshaft femur, midshaft rib and distal one-third diaphysis of the radius were recovered from 30 modern cadaveric individuals (15 males and 15 females ranging from 49 to 100 years old. Thick ground undecalcified histological (80 μm cross-sections were made and imaged under bright field microscopy. Osteocyte lacunar density (Ot.Lc.N/B.Ar and intracortical porosity (%Po.Ar were quantified. No significant sex differences in Ot.Lc.N/B.Ar or %Po.Ar were found in any element. Linear regressions demonstrated a significant decrease in osteocyte lacunar density (Ot.Lc.N/B.Ar and increase in intracortical porosity (%Po.Ar with age for the sex-pooled sample in the femur (R2 = 0.208, 0.297 respectively and radius (R2 = 0.108, 0.545 respectively. Age was unable to significantly predict osteocyte lacunar density or intracortical porosity in the rib (R2 = 0.058, 0.114 respectively. Comparisons of regression coefficients demonstrated a systemic trend in the decrease in osteocyte lacunar density (Ot.Lc.N/B.Ar and increase in intracortical porosity (%Po.Ar with age. In each element, intracortical porosity was significantly negatively correlated with lacunar density for which the radius demonstrated the strongest relationship (r = −0.746. Using pore number (Po.N as a proxy for available vascularity to support the osteocyte population, Po

  2. Genetics of VEGF serum variation in human isolated populations of cilento: importance of VEGF polymorphisms.

    Directory of Open Access Journals (Sweden)

    Daniela Ruggiero

    Full Text Available Vascular Endothelial Growth Factor (VEGF is the main player in angiogenesis. Because of its crucial role in this process, the study of the genetic factors controlling VEGF variability may be of particular interest for many angiogenesis-associated diseases. Although some polymorphisms in the VEGF gene have been associated with a susceptibility to several disorders, no genome-wide search on VEGF serum levels has been reported so far. We carried out a genome-wide linkage analysis in three isolated populations and we detected a strong linkage between VEGF serum levels and the 6p21.1 VEGF region in all samples. A new locus on chromosome 3p26.3 significantly linked to VEGF serum levels was also detected in a combined population sample. A sequencing of the gene followed by an association study identified three common single nucleotide polymorphisms (SNPs influencing VEGF serum levels in one population (Campora, two already reported in the literature (rs3025039, rs25648 and one new signal (rs3025020. A fourth SNP (rs41282644 was found to affect VEGF serum levels in another population (Cardile. All the identified SNPs contribute to the related population linkages (35% of the linkage explained in Campora and 15% in Cardile. Interestingly, none of the SNPs influencing VEGF serum levels in one population was found to be associated in the two other populations. These results allow us to exclude the hypothesis that the common variants located in the exons, intron-exon junctions, promoter and regulative regions of the VEGF gene may have a causal effect on the VEGF variation. The data support the alternative hypothesis of a multiple rare variant model, possibly consisting in distinct variants in different populations, influencing VEGF serum levels.

  3. Seasonal variation in plasma lipids and lipases in young healthy humans.

    Science.gov (United States)

    Cambras, Trinitat; Baena-Fustegueras, Juan A; Pardina, Eva; Ricart-Jané, David; Rossell, Joana; Díez-Noguera, Antoni; Peinado-Onsurbe, Julia

    2017-01-01

    Although intermediate metabolism is known to follow circadian rhythms, little information is available on the variation in lipase activities (lipoprotein and hepatic lipase, LPL and HL, respectively) and lipids throughout the year. In a cross-sectional study, we collected and analysed blood from 245 healthy students (110 men and 135 women) between 18 and 25 years old from the University of Barcelona throughout the annual campaign (March, May, October and December) of the blood bank. All subjects gave their written informed consent to participate. All blood samples were taken after breakfast at 8:00 and 11:00 am. Plasma glucose, total plasma protein, triacylglycerides (TAG), free fatty acids (FFA), free cholesterol and esterified cholesterol (FC and TC, respectively), cholesterol in low-density lipoproteins (cLDL), cholesterol in high-density lipoproteins (cHDL), phospholipids (PL) and lipase activities (LPL and HL) were determined. Cosinor analysis was used to evaluate the presence (significance of fit cosine curve to data and variance explained by rhythm) and characteristics of possible 12-month rhythms (acrophase, MESOR and amplitude). Statistically significant seasonal rhythms were detected for all the variables studied except proteins, with most of them peaking in the winter season. The lowest value for cLDL and the HL occurs in summer, while for cHDL and the LPL it is in winter. These findings demonstrate for the first time that in physiological conditions, plasma LPL and HL activities and lipids follow seasonal rhythms. The metabolic significance of this pattern is discussed.

  4. On the Extreme Wave Height Analysis

    DEFF Research Database (Denmark)

    Burcharth, H. F.; Liu, Zhou

    1994-01-01

    The determination of the design wave height is usually based on the statistical analysis of long-term extreme wave height measurements. After an introduction to the procedure of the extreme wave height analysis, the paper presents new development concerning various aspects of the extreme wave...... height analysis. Finally, the paper gives a practical example based on a data set of the hindcasted wave heights for a deep water location in the Mediterranean Sea....

  5. Variations in Urine Calcium Isotope: Composition Reflect Changes in Bone Mineral Balance in Humans

    Science.gov (United States)

    Skulan, Joseph; Anbar, Ariel; Bullen, Thomas; Puzas, J. Edward; Shackelford, Linda; Smith, Scott M.

    2004-01-01

    Changes in bone mineral balance cause rapid and systematic changes in the calcium isotope composition of human urine. Urine from subjects in a 17 week bed rest study was analyzed for calcium isotopic composition. Comparison of isotopic data with measurements of bone mineral density and metabolic markers of bone metabolism indicates the calcium isotope composition of urine reflects changes in bone mineral balance. Urine calcium isotope composition probably is affected by both bone metabolism and renal processes. Calcium isotope. analysis of urine and other tissues may provide information on bone mineral balance that is in important respects better than that available from other techniques, and illustrates the usefulness of applying geochemical techniques to biomedical problems.

  6. Systemic klotho is associated with KLOTHO variation and predicts intrinsic cortical connectivity in healthy human aging.

    Science.gov (United States)

    Yokoyama, Jennifer S; Marx, Gabe; Brown, Jesse A; Bonham, Luke W; Wang, Dan; Coppola, Giovanni; Seeley, William W; Rosen, Howard J; Miller, Bruce L; Kramer, Joel H; Dubal, Dena B

    2017-04-01

    Cognitive decline is a major biomedical challenge as the global population ages. Elevated levels of the longevity factor klotho suppress aging, enhance cognition, and promote synaptic plasticity and neural resilience against aging and Alzheimer's disease (AD)-related pathogenic proteins. Here, we examined the relationship between human genetic variants of KLOTHO and systemic klotho levels - and assessed neuroanatomic correlates of serum klotho in a cohort of healthy older adults. Serum klotho levels were increased with KL-VS heterozygosity, as anticipated. We report, for the first time, that serum klotho levels were paradoxically decreased with KL-VS homozygosity. Further, we found that higher serum klotho levels were associated with measures of greater intrinsic connectivity in key functional networks of the brain vulnerable to aging and AD such as the fronto-parietal and default mode networks. Our findings suggest that elevated klotho promotes a resilient brain, possibly through increased network connectivity of critical brain regions.

  7. Phenotype Variation in Human Immunodeficiency virus Type 1 Transmission and Disease Progression

    Directory of Open Access Journals (Sweden)

    Mariangela Cavarelli

    2009-01-01

    Full Text Available Human immunodeficiency virus type I (HIV-1 infects target cells through interaction with the CD4 molecule and chemokine receptors, mainly CCR5 and CXCR4. Viral isolates can be phenotypically classified based on the co-receptor they utilize to infect target cells. Thus, R5 and X4 virus use respectively CCR5 and CXCR4, whereas R5X4 virus can use either CCR5 or CXCR4. This review describes the central role played by co-receptor expression and usage for HIV-1 cell tropism, transmission and pathogenesis. We discuss various hypotheses proposed to explain the preferential transmission of R5 viruses and the mechanisms driving the change of HIV-1 co-receptor usage in the course of infection. Recent insights in the intrinsic variability of R5 viruses and their role in influencing disease progression in both adults and children are also discussed.

  8. Phenotype variation in human immunodeficiency virus type 1 transmission and disease progression.

    Science.gov (United States)

    Cavarelli, Mariangela; Scarlatti, Gabriella

    2009-01-01

    Human immunodeficiency virus type I (HIV-1) infects target cells through interaction with the CD4 molecule and chemokine receptors, mainly CCR5 and CXCR4. Viral isolates can be phenotypically classified based on the co-receptor they utilize to infect target cells. Thus, R5 and X4 virus use respectively CCR5 and CXCR4, whereas R5X4 virus can use either CCR5 or CXCR4. This review describes the central role played by co-receptor expression and usage for HIV-1 cell tropism, transmission and pathogenesis. We discuss various hypotheses proposed to explain the preferential transmission of R5 viruses and the mechanisms driving the change of HIV-1 co-receptor usage in the course of infection. Recent insights in the intrinsic variability of R5 viruses and their role in influencing disease progression in both adults and children are also discussed.

  9. Human insulin polymorphism upon ligand binding and pH variation: the case of 4-ethylresorcinol.

    Science.gov (United States)

    Fili, S; Valmas, A; Norrman, M; Schluckebier, G; Beckers, D; Degen, T; Wright, J; Fitch, A; Gozzo, F; Giannopoulou, A E; Karavassili, F; Margiolaki, I

    2015-09-01

    This study focuses on the effects of the organic ligand 4-ethylresorcinol on the crystal structure of human insulin using powder X-ray crystallography. For this purpose, systematic crystallization experiments have been conducted in the presence of the organic ligand and zinc ions within the pH range 4.50-8.20, while observing crystallization behaviour around the isoelectric point of insulin. High-throughput crystal screening was performed using a laboratory X-ray diffraction system. The most representative samples were selected for synchrotron X-ray diffraction measurements, which took place at the European Synchrotron Radiation Facility (ESRF) and the Swiss Light Source (SLS). Four different crystalline polymorphs have been identified. Among these, two new phases with monoclinic symmetry have been found, which are targets for the future development of microcrystalline insulin drugs.

  10. High-Frequency EEG Variations in Children with Autism Spectrum Disorder during Human Faces Visualization

    Directory of Open Access Journals (Sweden)

    Celina A. Reis Paula

    2017-01-01

    Full Text Available Autism spectrum disorder (ASD is a neuropsychiatric disorder characterized by the impairment in the social reciprocity, interaction/language, and behavior, with stereotypes and signs of sensory function deficits. Electroencephalography (EEG is a well-established and noninvasive tool for neurophysiological characterization and monitoring of the brain electrical activity, able to identify abnormalities related to frequency range, connectivity, and lateralization of brain functions. This research aims to evidence quantitative differences in the frequency spectrum pattern between EEG signals of children with and without ASD during visualization of human faces in three different expressions: neutral, happy, and angry. Quantitative clinical evaluations, neuropsychological evaluation, and EEG of children with and without ASD were analyzed paired by age and gender. The results showed stronger activation in higher frequencies (above 30 Hz in frontal, central, parietal, and occipital regions in the ASD group. This pattern of activation may correlate with developmental characteristics in the children with ASD.

  11. Regional fibrocartilage variations in human anterior cruciate ligament tibial insertion: a histological three-dimensional reconstruction.

    Science.gov (United States)

    Dai, Can; Guo, Lin; Yang, Liu; Wu, Yi; Gou, Jingyue; Li, Bangchun

    2015-02-01

    We studied anterior cruciate ligament (ACL) tibial insertion architecture in humans and investigated regional differences that could suggest unequal force transmission from ligament to bone. ACL tibial insertions were processed histologically. With Photoshop software, digital images taken from the histological slides were collaged, contour lines were drawn, and different gray values were filled based on the structure. The data were exported to Amira software for three-dimensional reconstruction. The uncalcified fibrocartilage (UF) layer was divided into three regions: lateral, medial and posterior according to the architecture. The UF zone was significantly thicker laterally than medially or posteriorly (p fibrocartilage (CF) thickness was significantly greater in the lateral part of the enthesis compared to the medial and posterior parts (p < 0.05). The UF quantity (more UF laterally) corresponding to the CF quantity (more CF laterally) at the ACL tibial insertion provides further evidence suggesting that the load transferred from the ACL to the tibia was greater laterally than medially and posteriorly.

  12. Variation in the loss of O6-methylguanine-DNA methyltransferase during immortalization of human fibroblasts.

    Science.gov (United States)

    Green, M H; Karran, P; Lowe, J E; Priestley, A; Arlett, C F; Mayne, L

    1990-01-01

    We have examined O6-methylguanine-DNA methyltransferase (MT) activity in four human fibroblast cell lines during immortalization. Transfection of primary fibroblasts with the plasmid pSV3gpt or pSV3neo, which encode the SV40 large T antigen, confers a transformed phenotype but not immediate immortality. After a period of growth (pre-crisis) the cells enter a quiescent phase (crisis) from which an immortal clone of cells eventually grows out. From measurements of MT activity in extracts of cells taken at different defined stages of the immortalization process, we conclude that the establishment of a Mex- (MT-deficient) cell population is not specifically associated with cellular transformation or with any particular stage of immortalization. It appears that in different cell populations the change from Mex+ to Mex- may occur at different times during the immortalization process and that the change may be very abrupt.

  13. Rapid detection of structural variation in a human genome using nanochannel-based genome mapping technology

    DEFF Research Database (Denmark)

    Cao, Hongzhi; Hastie, Alex R.; Cao, Dandan

    2014-01-01

    mutations; however, none of the current detection methods are comprehensive, and currently available methodologies are incapable of providing sufficient resolution and unambiguous information across complex regions in the human genome. To address these challenges, we applied a high-throughput, cost......-effective genome mapping technology to comprehensively discover genome-wide SVs and characterize complex regions of the YH genome using long single molecules (>150 kb) in a global fashion. RESULTS: Utilizing nanochannel-based genome mapping technology, we obtained 708 insertions/deletions and 17 inversions larger...... fosmid data. Of the remaining 270 SVs, 260 are insertions and 213 overlap known SVs in the Database of Genomic Variants. Overall, 609 out of 666 (90%) variants were supported by experimental orthogonal methods or historical evidence in public databases. At the same time, genome mapping also provides...

  14. Variation in consumption of human milk oligosaccharides by infant gut-associated strains of Bifidobacterium breve.

    Science.gov (United States)

    Ruiz-Moyano, Santiago; Totten, Sarah M; Garrido, Daniel A; Smilowitz, Jennifer T; German, J Bruce; Lebrilla, Carlito B; Mills, David A

    2013-10-01

    Human milk contains a high concentration of complex oligosaccharides that influence the composition of the intestinal microbiota in breast-fed infants. Previous studies have indicated that select species such as Bifidobacterium longum subsp. infantis and Bifidobacterium bifidum can utilize human milk oligosaccharides (HMO) in vitro as the sole carbon source, while the relatively few B. longum subsp. longum and Bifidobacterium breve isolates tested appear less adapted to these substrates. Considering the high frequency at which B. breve is isolated from breast-fed infant feces, we postulated that some B. breve strains can more vigorously consume HMO and thus are enriched in the breast-fed infant gastrointestinal tract. To examine this, a number of B. breve isolates from breast-fed infant feces were characterized for the presence of different glycosyl hydrolases that participate in HMO utilization, as well as by their ability to grow on HMO or specific HMO species such as lacto-N-tetraose (LNT) and fucosyllactose. All B. breve strains showed high levels of growth on LNT and lacto-N-neotetraose (LNnT), and, in general, growth on total HMO was moderate for most of the strains, with several strain differences. Growth and consumption of fucosylated HMO were strain dependent, mostly in isolates possessing a glycosyl hydrolase family 29 α-fucosidase. Glycoprofiling of the spent supernatant after HMO fermentation by select strains revealed that all B. breve strains can utilize sialylated HMO to a certain extent, especially sialyl-lacto-N-tetraose. Interestingly, this specific oligosaccharide was depleted before neutral LNT by strain SC95. In aggregate, this work indicates that the HMO consumption phenotype in B. breve is variable; however, some strains display specific adaptations to these substrates, enabling more vigorous consumption of fucosylated and sialylated HMO. These results provide a rationale for the predominance of this species in breast-fed infant feces and

  15. Physical growth of the shuar: Height, Weight, and BMI references for an indigenous amazonian population.

    Science.gov (United States)

    Urlacher, Samuel S; Blackwell, Aaron D; Liebert, Melissa A; Madimenos, Felicia C; Cepon-Robins, Tara J; Gildner, Theresa E; Snodgrass, J Josh; Sugiyama, Lawrence S

    2016-01-01

    Information concerning physical growth among small-scale populations remains limited, yet such data are critical to local health efforts and to foster basic understandings of human life history and variation in childhood development. Using a large dataset and robust modeling methods, this study aims to describe growth from birth to adulthood among the indigenous Shuar of Amazonian Ecuador. Mixed-longitudinal measures of height, weight, and body mass index (BMI) were collected from Shuar participants (n = 2,463; age: 0-29 years). Centile growth curves and tables were created for each anthropometric variable of interest using Generalized Additive Models for Location, Scale, and Shape (GAMLSS). Pseudo-velocity and Lambda-Mu-Sigma curves were generated to further investigate Shuar patterns of growth and to facilitate comparison with United States Center for Disease Control and Prevention and multinational World Health Organization growth references. The Shuar are small throughout life and exhibit complex patterns of growth that differ substantially from those of international references. Similar to other Amazonians, Shuar growth in weight compares more favorably to references than growth in height, resulting in BMI curves that approximate international medians. Several additional characteristics of Shuar development are noteworthy, including large observed variation in body size early in life, significant infant growth faltering, extended male growth into adulthood, and a markedly early female pubertal growth spurt in height. Phenotypic plasticity and genetic selection in response to local environmental factors may explain many of these patterns. Providing a detailed reference of growth for the Shuar and other Amazonian populations, this study possesses direct clinical application and affords valuable insight into childhood health and the ecology of human growth. © 2015 Wiley Periodicals, Inc.

  16. Tree height-diameter allometry across the United States.

    Science.gov (United States)

    Hulshof, Catherine M; Swenson, Nathan G; Weiser, Michael D

    2015-03-01

    The relationship between tree height and diameter is fundamental in determining community and ecosystem structure as well as estimates of biomass and carbon storage. Yet our understanding of how tree allometry relates to climate and whole organismal function is limited. We used the Forest Inventory and Analysis National Program database to determine height-diameter allometries of 2,976,937 individuals of 293 tree species across the United States. The shape of the allometric relationship was determined by comparing linear and nonlinear functional forms. Mixed-effects models were used to test for allometric differences due to climate and floristic (between angiosperms and gymnosperms) and functional groups (leaf habit and shade tolerance). Tree allometry significantly differed across the United States largely because of climate. Temperature, and to some extent precipitation, in part explained tree allometric variation. The magnitude of allometric variation due to climate, however, had a phylogenetic signal. Specifically, angiosperm allometry was more sensitive to differences in temperature compared to gymnosperms. Most notably, angiosperm height was more negatively influenced by increasing temperature variability, whereas gymnosperm height was negatively influenced by decreasing precipitation and increasing altitude. There was little evidence to suggest that shade tolerance influenced tree allometry except for very shade-intolerant trees which were taller for any given diameter. Tree allometry is plastic rather than fixed and scaling parameters vary around predicted central tendencies. This allometric variation provides insight into life-history strategies, phylogenetic history, and environmental limitations at biogeographical scales.

  17. MitoLSDB: a comprehensive resource to study genotype to phenotype correlations in human mitochondrial DNA variations.

    Directory of Open Access Journals (Sweden)

    Shamnamole K

    Full Text Available Human mitochondrial DNA (mtDNA encodes a set of 37 genes which are essential structural and functional components of the electron transport chain. Variations in these genes have been implicated in a broad spectrum of diseases and are extensively reported in literature and various databases. In this study, we describe MitoLSDB, an integrated platform to catalogue disease association studies on mtDNA (http://mitolsdb.igib.res.in. The main goal of MitoLSDB is to provide a central platform for direct submissions of novel variants that can be curated by the Mitochondrial Research Community. MitoLSDB provides access to standardized and annotated data from literature and databases encompassing information from 5231 individuals, 675 populations and 27 phenotypes. This platform is developed using the Leiden Open (source Variation Database (LOVD software. MitoLSDB houses information on all 37 genes in each population amounting to 132397 variants, 5147 unique variants. For each variant its genomic location as per the Revised Cambridge Reference Sequence, codon and amino acid change for variations in protein-coding regions, frequency, disease/phenotype, population, reference and remarks are also listed. MitoLSDB curators have also reported errors documented in literature which includes 94 phantom mutations, 10 NUMTs, six documentation errors and one artefactual recombination. MitoLSDB is the largest repository of mtDNA variants systematically standardized and presented using the LOVD platform. We believe that this is a good starting resource to curate mtDNA variants and will facilitate direct submissions enhancing data coverage, annotation in context of pathogenesis and quality control by ensuring non-redundancy in reporting novel disease associated variants.

  18. Local variations in {sup 14}C - How is bomb-pulse dating of human tissues and cells affected?

    Energy Technology Data Exchange (ETDEWEB)

    Stenstroem, Kristina, E-mail: Kristina.Stenstrom@nuclear.lu.s [Lund University, Department of Physics, Division of Nuclear Physics, Box 118, SE-221 00 Lund (Sweden); Skog, Goeran [Lund University, GeoBiosphere Science Centre, Geocentrum II, Soelvegatan 12, SE-223 672 Lund (Sweden); Nilsson, Carl Magnus [Lund University, Department of Physics, Division of Nuclear Physics, Box 118, SE-221 00 Lund (Sweden); Lund University, Department of Medical Radiation Physics, Malmoe University Hospital, SE-205 02 Malmoe (Sweden); Hellborg, Ragnar [Lund University, Department of Physics, Division of Nuclear Physics, Box 118, SE-221 00 Lund (Sweden); Svegborn, Sigrid Leide [Lund University, Department of Medical Radiation Physics, Malmoe University Hospital, SE-205 02 Malmoe (Sweden); Georgiadou, Elisavet [Lund University, Department of Physics, Division of Nuclear Physics, Box 118, SE-221 00 Lund (Sweden); Mattsson, Soeren [Lund University, Department of Medical Radiation Physics, Malmoe University Hospital, SE-205 02 Malmoe (Sweden)

    2010-04-15

    Atmospheric nuclear weapons testing in the late 1950s and early 1960s almost doubled the amount of {sup 14}C in the atmosphere. The resulting {sup 14}C 'bomb-pulse' has been shown to provide useful age information in e.g. forensic and environmental sciences, biology and the geosciences. The technique is also currently being used for retrospective cell dating in man, in order to provide insight into the rate of formation of new cells in the human body. Bomb-pulse dating relies on precise measurements of the declining {sup 14}C concentration in atmospheric CO{sub 2} collected at clean-air sites. However, it is not always recognized that the calculations can be complicated in some cases by significant local variations in the specific activity of {sup 14}C in carbon in the air and foodstuff. This paper presents investigations of local {sup 14}C variations in the vicinities of nuclear installations and laboratories using {sup 14}C. Levels of {sup 14}C in workers using this radioisotope are also discussed.

  19. Effect of variation of geometric parameters on the flow within a synthetic models of lower human airways

    Science.gov (United States)

    Espinosa Moreno, Andres Santiago; Duque Daza, Carlos Alberto

    2017-11-01

    The effects of variation of two geometric parameters, such as bifurcation angle and carina rounding radius, during the respiratory inhalation process, are studied numerically using two synthetic models of lower human airways. Laminar flow simulations were performed for six angles and three rounding radius, for 500, 1000, 1500 and 2000 for Reynolds numbers. Numerical results showed the existence of a direct relationship between the deformation of the velocity profiles (effect produced by the bifurcation) and the vortical structures observed through the secondary flow patterns. It is observed that the location of the vortices (and their related saddle point) is associated with the displacement of the velocity peak. On the other hand, increasing the angle and the rounding radius seems to bring about a growth of the pressure drop, which in turn displaces the distribution and peaks of the maximum shear stresses of the carina, that is, of the bifurcation point. Some physiological effects associated with the phenomena produced by these geometric variations are also discussed.

  20. Impact of seasonal variation, age and smoking status on human semen parameters: The Massachusetts General Hospital experience

    Science.gov (United States)

    Chen, Zuying; Godfrey-Bailey, Linda; Schiff, Isaac; Hauser, Russ

    2004-01-01

    Background To investigate the relationship of human semen parameters with season, age and smoking status. Methods The present study used data from subjects recruited into an ongoing cross-sectional study on the relationship between environmental agents and semen characteristics. Our population consisted of 306 patients who presented to the Vincent Memorial Andrology Laboratory of Massachusetts General Hospital for semen evaluation. Sperm concentration and motility were measured with computer aided sperm analysis (CASA). Sperm morphology was scored using Tygerberg Kruger strict criteria. Regression analyses were used to investigate the relationships between semen parameters and season, age and smoking status, adjusting for abstinence interval. Results Sperm concentration in the spring was significantly higher than in winter, fall and summer (p seasons. There were no statistically significant relationships between semen parameters and smoking status, though current smokers tended to have lower sperm concentration. We also did not find a statistically significant relationship between age and semen parameters. Conclusions We found seasonal variations in sperm concentration and suggestive evidence of seasonal variation in sperm motility and percent sperm with normal morphology. Although smoking status was not a significant predictor of semen parameters, this may have been due to the small number of current smokers in the study. PMID:15507127

  1. [Seasonal variations in the myocardial infarction incidence and possible effects of geomagnetic micropulsations on the cardiovascular system in humans].

    Science.gov (United States)

    Kleĭmenova, N G; Kozyreva, O V; Breus, T K; Rapoport, S I

    2007-01-01

    The analysis of the ambulance calls in Moscow, related to myocardial infarction (85.000 events), sudden death (71.700 events), and hypertension crises (165.500 events) over the period of 1979-1981 demonstrated their clear seasonal variations with a profound summer minimum and a winter maximum. The same results were obtained in the analysis of statistical monthly data on sudden death from infarction in Bulgaria over the period of 15 years (1970-1985). However, there are a great number of clinical and statistical studies confirming the rises in the incidence of myocardial infarction, hypertension crise, and sudden death during geomagnetic disturbances, which have maximum occurrence near equinox, not in winter. In order to explain this contradiction, we suggested that one of critical factors that affect the human cardiovascular system is geomagnetic micropulsations Pc1 having the frequency comparable with the frequency of heart rate beatings and winter maximum in their occurrence. The results of a comparative analysis of data of ambulance calls in Moscow related to myocardial infarction and sudden death and the catalog of Pc1 observations at the geophysical observatory "Borok" (Yaroslavl region) are presented. It is shown that in approximately 70% of days with an anomalously large number of ambulance calls related to myocardial infarction, Pc1 micropulsations have been registered. The probability of simultaneous occurrence of myocardial infarction and Pc1 in the winter season was 1.5 times greater than their accidental coincidence. Moreover, it was found that in winter the effects of magnetic storms and Pc1 IM(A) were much higher than in summer. We suggested that one of possible reasons for the seasonal variations in the occurrence of myocardial infarction is an increase in the production of the pineal hormone melatonin in winter which leads to an unstable state of the human organism and an increase in its sensitivity to the effect of geomagnetic pulsations.

  2. Quantifying seasonal and diel variation in Anopheline and Culex human biting rates in Southern Ecuador.

    Science.gov (United States)

    Ryan, Sadie J; Lippi, Catherine A; Boersch-Supan, Philipp H; Heydari, Naveed; Silva, Mercy; Adrian, Jefferson; Noblecilla, Leonardo F; Ayala, Efraín B; Encalada, Mayling D; Larsen, David A; Krisher, Jesse T; Krisher, Lyndsay; Fregosi, Lauren; Stewart-Ibarra, Anna M

    2017-11-22

    Quantifying mosquito biting rates for specific locations enables estimation of mosquito-borne disease risk, and can inform intervention efforts. Measuring biting itself is fraught with ethical concerns, so the landing rate of mosquitoes on humans is often used as a proxy measure. Southern coastal Ecuador was historically endemic for malaria (Plasmodium falciparum and Plasmodium vivax), although successful control efforts in the 2000s eliminated autochthonous transmission (since 2011). This study presents an analysis of data collected during the elimination period. Human landing catch (HLC) data for three mosquito taxa: two malaria vectors, Anopheles albimanus and Anopheles punctimacula, and grouped Culex spp. were examined for this study. These data were collected by the National Vector Control Service of the Ministry of Health over a 5-year time span (2007-2012) in five cities in southern coastal Ecuador, at multiple households, in all months of the year, during dusk-dawn (18:00-6:00) hours, often at both indoor and outdoor locations. Hurdle models were used to determine if biting activity was fundamentally different for the three taxa, and to identify spatial and temporal factors influencing bite rate. Due to the many different approaches to studying and quantifying bite rates in the literature, a glossary of terms was created, to facilitate comparative studies in the future. Biting trends varied significantly with species and time. All taxa exhibited exophagic feeding behavior, and outdoor locations increased both the odds and incidence of bites across taxa. Anopheles albimanus was most frequently observed biting, with an average of 4.7 bites/h. The highest and lowest respective months for significant biting activity were March and July for An. albimanus, July and August for An. punctimacula, and February and July for Culex spp. Fine-scale differences in endophagy and exophagy, and temporal differences among months and hours exist in biting patterns among

  3. Natural variations in calcium isotope composition as a monitor of bone mineral balance in humans.

    Science.gov (United States)

    Skulan, J.; Anbar, A.; Thomas, B.; Smith, S.

    2004-12-01

    The skeleton is the largest reservoir of calcium in the human body and is responsible for the short term control of blood levels of this element. Accurate measurement of changes in bone calcium balance is critical to understanding how calcium metabolism responds to physiological and environmental changes and, more specifically, to diagnosing and evaluating the effectiveness of treatments for osteoporosis and other serious calcium-related disorders. It is very difficult to measure bone calcium balance using current techniques, however, because these techniques rely either on separate estimates of bone resorption and formation that are not quantitatively comparable, or on complex and expensive studies of calcium kinetics using administered isotopic tracers. This difficulty is even more apparent and more severe for measurements of short-term changes in bone calcium balance that do not produce detectable changes in bone mineral density. Calcium isotopes may provide a novel means of addressing this problem. The foundation of this isotope application is the ca. 1.3 per mil fractionation of calcium during bone formation, favoring light calcium in the bone. This fractionation results in a steady-state isotopic offset between calcium in bone and calcium in soft tissues, blood and urine. Perturbations to this steady state due to changes in the net formation or resorption of bone should be reflected in changes in the isotopic composition of soft tissues and fluids. Here we present evidence that easily detectable shifts in the natural calcium isotope composition of human urine rapidly reflect changes in bone calcium balance. Urine from subjects in a 17-week bed rest study was analyzed for calcium isotopic composition. Bed rest promotes net resorption of bone, shifting calcium from bone to soft tissues, blood and urine. The calcium isotope composition of patients in this study shifted toward lighter values during bed rest, consistent with net resorption of isotopically

  4. Dynamic knee alignment and collateral knee laxity and its variations in normal humans

    Directory of Open Access Journals (Sweden)

    Kamal eDeep

    2015-11-01

    Full Text Available Alignment of normal, arthritic and replaced human knees is a much debated subject as is the collateral ligamentous laxity. Traditional quantitative values have been challenged. Methods used to measure these are also not without flaws. Authors review the recent literature and a novel method of measurement of these values has been included. This method includes use of computer navigation technique in clinic setting for assessment of the normal or affected knee before the surgery. Computer navigation has been known for achievement of alignment accuracy during knee surgery. Now its use in clinic setting has added to the inventory of measurement methods. Authors dispel the common myth of straight mechanical axis in normal knees and also look at quantification of amount of collateral knee laxity. Based on the scientific studies it has been shown that the mean alignment is in varus in normal knees. It changes from lying non weight bearing position to standing weight bearing position in both coronal and the sagittal planes. It also varies with gender and race. The collateral laxity is also different for males and females. Further studies are needed to define the ideal alignment and collateral laxity which the surgeon should aim for individual knees.

  5. Human papillomavirus 33 worldwide genetic variation and associated risk of cervical cancer

    Science.gov (United States)

    Chen, Alyce A.; Heideman, Daniëlle A.M.; Boon, Debby; Chen, Zigui; Burk, Robert D.; De Vuyst, Hugo; Gheit, Tarik; Snijders, Peter J.F.; Tommasino, Massimo; Franceschi, Silvia; Clifford, Gary M.

    2014-01-01

    Human papillomavirus (HPV) 33, a member of the HPV16-related alpha-9 species group, is found in approximately 5% of cervical cancers worldwide. The current study aimed to characterize the genetic diversity of HPV33 and to explore the association of HPV33 variants with the risk for cervical cancer. Taking advantage of the International Agency for Research on Cancer biobank, we sequenced the entire E6 and E7 open reading frames of 213 HPV33-positive cervical samples from 30 countries. We identified 28 HPV33 variants that formed 5 phylogenetic groups: the previously identified A1, A2, and B (sub) lineages and the novel A3 and C (sub)lineages. The A1 sublineage was strongly over-represented in cervical cases compared to controls in both Africa and Europe. In conclusion, we provide a classification system for HPV33 variants based on the sequence of E6 and E7 and suggest that the association of HPV33 with cervical cancer may differ by variant (sub)lineage. PMID:24314666

  6. The cross-cultural variation of predictors of human papillomavirus vaccination intentions.

    Science.gov (United States)

    Lechuga, Julia; Swain, Geoffrey R; Weinhardt, Lance S

    2011-02-01

    The influence of health beliefs on human papillomavirus (HPV) vaccine acceptability have been extensively documented in past research. However, studies documenting the generalizability of prior findings to culturally diverse participants are lacking. The importance of generalizability studies is underscored by the immense disparities in cervical cancer rates across ethnicities. Moreover, theory in cultural psychology suggests that beliefs derived from personal expectations may not be the strongest predictors of intentions in individuals socialized in collectivist cultures. The purpose of this research was to investigate the strongest predictors of mothers' intentions to vaccinate their daughters across three cultural groups: Hispanic, non-Hispanic white, and African American. One hundred fifty mothers were recruited from Public Health Department clinics in Milwaukee, Wisconsin. Mothers were asked to answer measures that assessed personal and normative predictors of intentions. Results indicated that predictors of vaccination intentions varied cross-culturally. Specifically, culture moderated the influence of norms on intentions. Interventions designed for Hispanics may be more effective if norms, rather than attitudes, are targeted.

  7. Variation in clinical phenotype of human infection among genetic groups of Blastomyces dermatitidis

    Science.gov (United States)

    Meece, Jennifer K.; Anderson, Jennifer L.; Gruszka, Sarah; Sloss, Brian L.; Sullivan, Bradley; Reed, Kurt D.

    2013-01-01

    Background. Blastomyces dermatitidis, the etiologic agent of blastomycosis, has 2 genetic groups and shows varied clinical presentation, ranging from silent infections to fulminant respiratory disease and dissemination. The objective of this study was to determine whether clinical phenotype and outcomes vary based on the infecting organism's genetic group.Methods. We used microsatellites to genotype 227 clinical isolates of B. dermatitidis from Wisconsin patients. For each isolate, corresponding clinical disease characteristics and patient demographic information were abstracted from electronic health records and Wisconsin Division of Health reportable disease forms and questionnaires.Results. In univariate analysis, group 1 isolates were more likely to be associated with pulmonary-only infections (P 1 month (P smoking status (P = .0001) remained predictors for group 2 infections.Conclusions. This study identified previously unknown associations between clinical phenotype of human infection and genetic groups of B. dermatitidis and provides a framework for further investigations of the genetic basis for virulence in B. dermatitidis.

  8. Genetic Variation among Major Human Geographic Groups Supports a Peculiar Evolutionary Trend in PAX9

    Science.gov (United States)

    Paixão-Côrtes, Vanessa R.; Meyer, Diogo; Pereira, Tiago V.; Mazières, Stéphane; Elion, Jacques; Krishnamoorthy, Rajagopal; Zago, Marco A.; Silva, Wilson A.; Salzano, Francisco M.; Bortolini, Maria Cátira

    2011-01-01

    A total of 172 persons from nine South Amerindian, three African and one Eskimo populations were studied in relation to the Paired box gene 9 (PAX9) exon 3 (138 base pairs) as well as its 5′and 3′flanking intronic segments (232 bp and 220 bp, respectively) and integrated with the information available for the same genetic region from individuals of different geographical origins. Nine mutations were scored in exon 3 and six in its flanking regions; four of them are new South American tribe-specific singletons. Exon3 nucleotide diversity is several orders of magnitude higher than its intronic regions. Additionally, a set of variants in the PAX9 and 101 other genes related with dentition can define at least some dental morphological differences between Sub-Saharan Africans and non-Africans, probably associated with adaptations after the modern human exodus from Africa. Exon 3 of PAX9 could be a good molecular example of how evolvability works. PMID:21298044

  9. Genetic variation among major human geographic groups supports a peculiar evolutionary trend in PAX9.

    Directory of Open Access Journals (Sweden)

    Vanessa R Paixão-Côrtes

    Full Text Available A total of 172 persons from nine South Amerindian, three African and one Eskimo populations were studied in relation to the Paired box gene 9 (PAX9 exon 3 (138 base pairs as well as its 5'and 3'flanking intronic segments (232 bp and 220 bp, respectively and integrated with the information available for the same genetic region from individuals of different geographical origins. Nine mutations were scored in exon 3 and six in its flanking regions; four of them are new South American tribe-specific singletons. Exon3 nucleotide diversity is several orders of magnitude higher than its intronic regions. Additionally, a set of variants in the PAX9 and 101 other genes related with dentition can define at least some dental morphological differences between Sub-Saharan Africans and non-Africans, probably associated with adaptations after the modern human exodus from Africa. Exon 3 of PAX9 could be a good molecular example of how evolvability works.

  10. Global Variation of Human Papillomavirus Genotypes and Selected Genes Involved in Cervical Malignancies.

    Science.gov (United States)

    Husain, R S Akram; Ramakrishnan, V

    2015-01-01

    Carcinoma of the cervix is ranked second among the top 5 cancers affecting women globally. Parallel to other cancers, it is also a complex disease involving numerous factors such as human papillomavirus (HPV) infection followed by the activity of oncogenes and environmental factors. The incidence rate of the disease remains high in developing countries due to lack of awareness, followed by mass screening programs, various socioeconomic issues, and low usage of preventive vaccines. Over the past 3 decades, extensive research has taken place in cervical malignancy to elucidate the role of host genes in the pathogenesis of the disease, yet it remains one of the most prevalent diseases. It is imperative that recent genome-wide techniques be used to determine whether carcinogenesis of oncogenes is associated with cervical cancer at the molecular level and to translate that knowledge into developing diagnostic and therapeutic tools. The aim of this study was to discuss HPV predominance with their genotype distribution worldwide, and in India, as well as to discuss the newly identified oncogenes related to cervical cancer in current scenario. Using data from various databases and robust technologies, oncogenes associated with cervical malignancies were identified and are explained in concise manner. Due to the advent of recent technologies, new candidate genes are explored and can be used as precise biomarkers for screening and developing drug targets. Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved.

  11. Sex, Sport, IGF-1 and the Community Effect in Height Hypothesis

    Directory of Open Access Journals (Sweden)

    Barry Bogin

    2015-05-01

    Full Text Available We test the hypothesis that differences in social status between groups of people within a population may induce variation in insulin-like growth factor-1(IGF-1 levels and, by extension, growth in height. This is called the community effect in height hypothesis. The relationship between IGF-1, assessed via finger-prick dried blood spot, and elite level sport competition outcomes were analysed for a sample of 116 undergraduate men and women. There was a statistically significant difference between winners and losers of a competition. Winners, as a group, had higher average pre-game and post-game IGF-1 levels than losers. We proposed this type of difference as a proxy for social dominance. We found no evidence that winners increased in IGF-1 levels over losers or that members of the same team were more similar in IGF-1 levels than they were to players from other teams. These findings provide limited support toward the community effect in height hypothesis. The findings are discussed in relation to the action of the growth hormone/IGF-1 axis as a transducer of multiple bio-social influences into a coherent signal which allows the growing human to adjust and adapt to local ecological conditions.

  12. Encounter Probability of Individual Wave Height

    DEFF Research Database (Denmark)

    Liu, Z.; Burcharth, H. F.

    1998-01-01

    wave height corresponding to a certain exceedence probability within a structure lifetime (encounter probability), based on the statistical analysis of long-term extreme significant wave height. Then the design individual wave height is calculated as the expected maximum individual wave height...... associated with the design significant wave height, with the assumption that the individual wave heights follow the Rayleigh distribution. However, the exceedence probability of such a design individual wave height within the structure lifetime is unknown. The paper presents a method for the determination...... of the design individual wave height corresponding to an exceedence probability within the structure lifetime, given the long-term extreme significant wave height. The method can also be applied for estimation of the number of relatively large waves for fatigue analysis of constructions....

  13. Variation in sensitizing effect of caffeine in human tumour cell lines after γ-irradiation

    International Nuclear Information System (INIS)

    Valenzuela, M.T.; Almodovar, M.R. de; Mateos, S.; McMillan, T.J.

    2000-01-01

    We have investigated whether the protective role of the G2 checkpoint has increasing importance when the p53-dependent G1 checkpoint is inactivated. We have studied the differential effect of caffeine by clonogenic assays and flow cytometry in three human tumour cell lines with different functionality of p53 protein. The radiosensitizing effect of caffeine (2 mM) expressed itself as a significant decrease in surviving fraction at 2 Gy and a significant increase in α-values in RT112 and TE671, both with non-functional p53. However, no radiosensitizing effect was seen in cells with a normal p53 function (MCF-7 BUS). Two millimoles of caffeine also caused important changes in the cell cycle progression after irradiation. MCF-7 BUS showed a G1 arrest after irradiation and an early G2 arrest but those cells that reached the second G2 did not arrest significantly. In contrast, TE671 exhibited radiosensitization by caffeine, no G1 arrest, a G2 arrest in those cells irradiated in G2, no significant accumulation in the second G2 but an overall delay in release from the first cell cycle, which could be abrogated by caffeine. RT112 was similar to TE671 except that the emphasis in a G2 arrest was shifted from the block in cells irradiated in G2 to those irradiated at other cell cycle phases. The data presented confirm that p53 status can be a significant determinant of the efficacy of caffeine as radiosensitizer in these tumour cell lines, and document the importance of the G2 checkpoint in this effect. (author)

  14. Relationship between human physiological parameters and geomagnetic variations of solar origin

    Science.gov (United States)

    Dimitrova, S.

    Results presented concern influence of increased geomagnetic activity on some human physiological parameters. The blood pressure and heart rate of 86 volunteers were measured on working days in autumn 2001 (01/10 09/11) and in spring 2002 (08/04 28/05). These periods were chosen because of maximal expected geomagnetic activity. Altogether 2799 recordings were obtained and analysed. Questionnaire information about subjective psycho-physiological complaints was also gathered. MANOVA was employed to check the significance of the influence of three factors on the physiological parameters under consideration. The factors were the following: (1) planetary geomagnetic activity level estimated by Ap-index and divided into five levels; (2) gender males and females; (3) blood pressure degree persons in the group examined were divided into hypotensive, normotensive and hypertensive. Post hoc analysis was performed to elicit the significance of differences in the factors’ levels. The average arterial blood pressure of the group was found to increase significantly with the increase of geomagnetic activity level. The average increment of systolic and diastolic blood pressure of the group examined reached 9%. This effect was present irrespectively of gender. Results obtained suppose that hypertensive persons have the highest sensitivity and the hypotensive persons have the lowest sensitivity of the arterial blood pressure to increase of geomagnetic activity. The results did not show significant changes in the heart rate. The percentage of the persons who reported subjective psycho-physiological complaints was also found to increase significantly with the geomagnetic activity increase and the highest sensitivity was revealed for the hypertensive females.

  15. Human longevity and common variations in the LMNA gene: a meta-analysis

    Science.gov (United States)

    Conneely, Karen N.; Capell, Brian C.; Erdos, Michael R.; Sebastiani, Paola; Solovieff, Nadia; Swift, Amy J.; Baldwin, Clinton T.; Budagov, Temuri; Barzilai, Nir; Atzmon, Gil; Puca, Annibale A.; Perls, Thomas T.; Geesaman, Bard J.; Boehnke, Michael; Collins, Francis S.

    2012-01-01

    Summary A mutation in the LMNA gene is responsible for the most dramatic form of premature aging, Hutchinson-Gilford progeria syndrome (HGPS). Several recent studies have suggested that protein products of this gene might have a role in normal physiological cellular senescence. To explore further LMNA's possible role in normal aging, we genotyped 16 SNPs over a span of 75.4 kb of the LMNA gene on a sample of long-lived individuals (US Caucasians with age ≥95 years, N=873) and genetically matched younger controls (N=443). We tested all common non-redundant haplotypes (frequency ≥ 0.05) based on subgroups of these 16 SNPs for association with longevity. The most significant haplotype, based on 4 SNPs, remained significant after adjustment for multiple testing (OR = 1.56, P=2.5×10−5, multiple-testing-adjusted P=0.0045). To attempt to replicate these results, we genotyped 3448 subjects from four independent samples of long-lived individuals and control subjects from 1) the New England Centenarian Study (NECS) (N=738), 2) the Southern Italian Centenarian Study (SICS) (N=905), 3) France (N=1103), and 4) the Einstein Ashkenazi Longevity Study (N=702). We replicated the association with the most significant haplotype from our initial analysis in the NECS sample (OR = 1.60, P=0.0023), but not in the other three samples (P>.15). In a meta-analysis combining all five samples, the best haplotype remained significantly associated with longevity after adjustment for multiple testing in the initial and follow-up samples (OR = 1.18, P=7.5×10−4, multiple-testing-adjusted P=0.037). These results suggest that LMNA variants may play a role in human lifespan. PMID:22340368

  16. Global analysis of genetic variation in human arsenic (+ 3 oxidation state) methyltransferase (AS3MT)

    International Nuclear Information System (INIS)

    Fujihara, Junko; Soejima, Mikiko; Yasuda, Toshihiro; Koda, Yoshiro; Agusa, Tetsuro; Kunito, Takashi; Tongu, Miki; Yamada, Takaya; Takeshita, Haruo

    2010-01-01

    Human arsenic (+ 3 oxidation state) methyltransferase (AS3MT) is known to catalyze the methylation of arsenite. The objective of this study was to investigate the diversity of the AS3MT gene at the global level. The distribution of 18 single nucleotide polymorphisms (SNPs) in AS3MT was performed in 827 individuals from 10 populations (Japanese, Korean, Chinese, Mongolian, Tibetans, Sri Lankan Tamils, Sri Lankan Sinhalese, Nepal Tamangs, Ovambo, and Ghanaian). In the African populations, the A allele in A6144T was not observed; the allele frequencies of C35587 were much lower than those in other populations; the allele frequencies of A37616 and C37950 were relatively higher than those in other populations. Among Asian populations, Mongolians showed a different genotype distribution pattern. A lower C3963 and T6144 frequencies were observed, and, in the C37616A and T37950C polymorphism, the Mongolian population showed higher A37616 and C37950 allele frequencies than other Asian populations, similarly to the African populations. A total of 66 haplotypes were observed in the Ovambo, 48, in the Ghanaian, 99, in the Japanese, 103, in the Korean, 103, in the South Chinese, 20, in the Sri Lankan Tamil, 12, in the Sri Lankan Sinhalese, 21, in the Nepal Tamang, 50, in the Tibetan, and 45, in the Mongolian populations. The D' values between the SNP pairs were extremely high in the Sri Lankan Sinhalese population. Relatively higher D' values were observed in Mongolian and Sri Lankan Tamil populations. Network analysis showed two clusters that may have different origins, African and Asians (Chinese and/or Japanese). The present study is the first to demonstrate the existence of genetic heterogeneity in a world wide distribution of 18 SNPs in AS3MT.

  17. Final height in survivors of childhood cancer compared with Height Standard Deviation Scores at diagnosis

    NARCIS (Netherlands)

    Knijnenburg, S. L.; Raemaekers, S.; van den Berg, H.; van Dijk, I. W. E. M.; Lieverst, J. A.; van der Pal, H. J.; Jaspers, M. W. M.; Caron, H. N.; Kremer, L. C.; van Santen, H. M.

    2013-01-01

    Our study aimed to evaluate final height in a cohort of Dutch childhood cancer survivors (CCS) and assess possible determinants of final height, including height at diagnosis. We calculated standard deviation scores (SDS) for height at initial cancer diagnosis and height in adulthood in a cohort of

  18. Ethnic Variations in Perception of Human Papillomavirus and its Vaccination among Young Women in Nepal .

    Science.gov (United States)

    Sathian, Brijesh; Babu, M G Ramesh; van Teijlingen, Edwin R; Banerjee, Indrajit; Roy, Bedanta; Subramanya, Supram Hosuru; Rajesh, Elayedath; Devkota, Suresh

    2017-03-01

    The Human Papillomavirus (HPV) is strongly associated with cervical and other cancers. In women, cervical cancer is the third most common cancer. HPV infection can be largely prevented through vaccination of (adolescent) girls. At the same time, Nepal is a low-income country experiencing a cultural change in attitudes towards sex and sexual behaviour. However, in the adolescent population knowledge about HPV, factors associated with an increased risk of HPV and the existence of the vaccination is often low. This was a cross-sectional study with female students enrolled in health and non-health science courses in Pokhara, Nepal. The questionnaire included demographic details, knowledge and attitude questions related to HPV, associated risk behaviour and its vaccination. Descriptive statistics, including Chi-Square test, were used to identify statistically significant relationships. Ethical approval was granted by the relevant authority in Nepal. Hindu religion (75.0 %; 95% CI: 70.9, 78.6) and Newari caste (75.5%; CI: 61.1, 86.7) were more aware about HPV, HPV vaccination. Hindus religion (55.6%; 95% CI: 51.2, 60.0) and Dalit caste (61.6%, 95% CI: 53.3, 69.4) more willing to be vaccinated than other religions and other castes, respectively. Not unsurprisingly, students on health-related courses had a greater awareness of HPV, HPV vaccination and were more willing to be vaccinated than students on other courses. Similar patterns of association arose for knowledge related to those sexually active at an early age; HPV risk and multiple sex partners; and fact that condoms cannot fully prevent the transmission of HPV. Knowledge about the link between HPV and (a) early sexual initiation, (b) having multiple sexual partners, and (c) the limited protection of condoms and other birth control measures was poor in our study compared to similar research conducted in other parts of the world. One key implication is the need for education campaigns in Nepal to educate young women

  19. Ethnic Variations in Perception of Human Papillomavirus and its Vaccination among Young Women in Nepal .

    Science.gov (United States)

    Babu, M G Ramesh; van Teijlingen, Edwin R.; Banerjee, Indrajit; Roy, Bedanta; Subramanya, Supram Hosuru; Rajesh, Elayedath; Devkota, Suresh

    2017-01-01

    Background: The Human Papillomavirus (HPV) is strongly associated with cervical and other cancers. In women, cervical cancer is the third most common cancer. HPV infection can be largely prevented through vaccination of (adolescent) girls. At the same time, Nepal is a low-income country experiencing a cultural change in attitudes towards sex and sexual behaviour. However, in the adolescent population knowledge about HPV, factors associated with an increased risk of HPV and the existence of the vaccination is often low. Materials and Methods: This was a cross-sectional study with female students enrolled in health and non-health science courses in Pokhara, Nepal. The questionnaire included demographic details, knowledge and attitude questions related to HPV, associated risk behaviour and its vaccination. Descriptive statistics, including Chi-Square test, were used to identify statistically significant relationships. Ethical approval was granted by the relevant authority in Nepal. Results: Hindu religion (75.0 %; 95% CI: 70.9, 78.6) and Newari caste (75.5%; CI: 61.1, 86.7) were more aware about HPV, HPV vaccination. Hindus religion (55.6%; 95% CI: 51.2, 60.0) and Dalit caste (61.6%, 95% CI: 53.3, 69.4) more willing to be vaccinated than other religions and other castes, respectively. Not unsurprisingly, students on health-related courses had a greater awareness of HPV, HPV vaccination and were more willing to be vaccinated than students on other courses. Similar patterns of association arose for knowledge related to those sexually active at an early age; HPV risk and multiple sex partners; and fact that condoms cannot fully prevent the transmission of HPV. Conclusion: Knowledge about the link between HPV and (a) early sexual initiation, (b) having multiple sexual partners, and (c) the limited protection of condoms and other birth control measures was poor in our study compared to similar research conducted in other parts of the world. One key implication is the need

  20. 3D variations in human crown dentin tubule orientation: a phase-contrast microtomography study.

    Science.gov (United States)

    Zaslansky, Paul; Zabler, Simon; Fratzl, Peter

    2010-01-01

    Tubules dominate the microstructure of dentin, and in crowns of human teeth they are surrounded by thick mineralized peritubular cuffs of high stiffness. Here we examine the three-dimensional (3D) arrangement of tubules in relation to enamel on the buccal and lingual aspects of intact premolars and molars. Specifically we investigate the angular orientation of tubules relative to the plane of the junction of dentin with enamel (DEJ) by means of wet, non-destructive and high-resolution phase-contrast (coherent) tomography. Enamel capped dentin samples (n=16), cut from the buccal and lingual surfaces of upper and lower premolar and molar teeth, were imaged in water by high-resolution synchrotron-based phase-contrast X-ray radiography. Reconstructed 3D virtual images were co-aligned with respect to the DEJ plane. The average tubule orientation was determined at increasing distances from the DEJ, based on integrated projections onto orthogonal virtual planes. The angle and curl of the tubules were determined every 100 microm to a depth of 1.4mm beneath the DEJ. Most tubules do not extend at right angles from the DEJ. Even when they do, tubules always change their orientations substantially within the first half-millimeter zone beneath the DEJ, both on the buccal and lingual aspects of premolar and molar teeth. Tubules also tend to curl and twist within this zone. Student t-tests indicate that lower teeth seem to have greater tilts in the tubule orientations relative to the DEJ normal with an average angle of 42 degrees (+/-2.0 degrees), whereas upper teeth exhibit a smaller change of orientation, with an average of 32 degrees (+/-2.1 degrees). Tubules are a central characteristic of dentin, with important implications on how it is arranged and what the properties are. Knowing about the path that tubules follow is important for various reasons, ranging form improving control over restorative procedures to understanding or simulating the mechanical properties of teeth

  1. Variations in the post-weaning human gut metagenome profile as result of Bifidobacterium acquisition in the Western microbiome

    Directory of Open Access Journals (Sweden)

    Matteo Soverini

    2016-07-01

    Full Text Available Studies of the gut microbiome variation among human populations revealed the existence of robust compositional and functional layouts matching the three subsistence strategies that describe a trajectory of changes across our recent evolutionary history: hunting and gathering, rural agriculture, and urban post-industrialized agriculture. In particular, beside the overall reduction of ecosystem diversity, the gut microbiome of Western industrial populations is typically characterized by the loss of Treponema and the acquisition of Bifidobacterium as an abundant inhabitant of the post-weaning gut microbial ecosystem. In order to advance the hypothesis about the possible adaptive nature of this exchange, here we explore specific functional attributes that correspond to the mutually exclusive presence of Treponema and Bifidobacterium using publically available gut metagenomic data from Hadza hunter-gatherers and urban industrial Italians. According to our findings, Bifidobacterium provides the enteric ecosystem with a diverse panel of saccharolytic functions, well suited to the array of gluco- and galacto-based saccharides that abound in the Western diet. On the other hand, the metagenomic functions assigned to Treponema are more predictive of a capacity to incorporate complex polysaccharides, such as those found in unrefined plant foods, which are consistently incorporated in the Hadza diet. Finally, unlike Treponema, the Bifidobacterium metagenome functions include genes that permit the establishment of microbe-host immunological cross-talk, suggesting recent co-evolutionary events between the human immune system and Bifidobacterium that are adaptive in the context of agricultural subsistence and sedentary societies.

  2. Variation in the human ribs geometrical properties and mechanical response based on X-ray computed tomography images resolution.

    Science.gov (United States)

    Perz, Rafał; Toczyski, Jacek; Subit, Damien

    2015-01-01

    Computational models of the human body are commonly used for injury prediction in automobile safety research. To create these models, the geometry of the human body is typically obtained from segmentation of medical images such as computed tomography (CT) images that have a resolution between 0.2 and 1mm/pixel. While the accuracy of the geometrical and structural information obtained from these images depend greatly on their resolution, the effect of image resolution on the estimation of the ribs geometrical properties has yet to be established. To do so, each of the thirty-four sections of ribs obtained from a Post Mortem Human Surrogate (PMHS) was imaged using three different CT modalities: standard clinical CT (clinCT), high resolution clinical CT (HRclinCT), and microCT. The images were processed to estimate the rib cross-section geometry and mechanical properties, and the results were compared to those obtained from the microCT images by computing the 'deviation factor', a metric that quantifies the relative difference between results obtained from clinCT and HRclinCT to those obtained from microCT. Overall, clinCT images gave a deviation greater than 100%, and were therefore deemed inadequate for the purpose of this study. HRclinCT overestimated the rib cross-sectional area by 7.6%, the moments of inertia by about 50%, and the cortical shell area by 40.2%, while underestimating the trabecular area by 14.7%. Next, a parametric analysis was performed to quantify how the variations in the estimate of the geometrical properties affected the rib predicted mechanical response under antero-posterior loading. A variation of up to 45% for the predicted peak force and up to 50% for the predicted stiffness was observed. These results provide a quantitative estimate of the sensitivity of the response of the FE model to the resolution of the images used to generate it. They also suggest that a correction factor could be derived from the comparison between microCT and

  3. Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.

    Science.gov (United States)

    Collins, Ryan L; Brand, Harrison; Redin, Claire E; Hanscom, Carrie; Antolik, Caroline; Stone, Matthew R; Glessner, Joseph T; Mason, Tamara; Pregno, Giulia; Dorrani, Naghmeh; Mandrile, Giorgia; Giachino, Daniela; Perrin, Danielle; Walsh, Cole; Cipicchio, Michelle; Costello, Maura; Stortchevoi, Alexei; An, Joon-Yong; Currall, Benjamin B; Seabra, Catarina M; Ragavendran, Ashok; Margolin, Lauren; Martinez-Agosto, Julian A; Lucente, Diane; Levy, Brynn; Sanders, Stephan J; Wapner, Ronald J; Quintero-Rivera, Fabiola; Kloosterman, Wigard; Talkowski, Michael E

    2017-03-06

    Structural variation (SV) influences genome organization and contributes to human disease. However, the complete mutational spectrum of SV has not been routinely captured in disease association studies. We sequenced 689 participants with autism spectrum disorder (ASD) and other developmental abnormalities to construct a genome-wide map of large SV. Using long-insert jumping libraries at 105X mean physical coverage and linked-read whole-genome sequencing from 10X Genomics, we document seven major SV classes at ~5 kb SV resolution. Our results encompass 11,735 distinct large SV sites, 38.1% of which are novel and 16.8% of which are balanced or complex. We characterize 16 recurrent subclasses of complex SV (cxSV), revealing that: (1) cxSV are larger and rarer than canonical SV; (2) each genome harbors 14 large cxSV on average; (3) 84.4% of large cxSVs involve inversion; and (4) most large cxSV (93.8%) have not been delineated in previous studies. Rare SVs are more likely to disrupt coding and regulatory non-coding loci, particularly when truncating constrained and disease-associated genes. We also identify multiple cases of catastrophic chromosomal rearrangements known as chromoanagenesis, including somatic chromoanasynthesis, and extreme balanced germline chromothripsis events involving up to 65 breakpoints and 60.6 Mb across four chromosomes, further defining rare categories of extreme cxSV. These data provide a foundational map of large SV in the morbid human genome and demonstrate a previously underappreciated abundance and diversity of cxSV that should be considered in genomic studies of human disease.

  4. Preanalytical and analytical variation of surface-enhanced laser desorption-ionization time-of-flight mass spectrometry of human serum

    DEFF Research Database (Denmark)

    Albrethsen, Jakob; Bøgebo, Rikke; Olsen, Jesper

    2006-01-01

    BACKGROUND: Surface-enhanced laser desorption-ionization time-of-flight (SELDI-TOF) mass spectrometry of human serum is a potential diagnostic tool in human diseases. In the present study, the preanalytical and analytical variation of SELDI-TOF mass spectrometry of serum was assessed in healthy...... was 18% (6%-34%, n=4) for 16 peaks, and inter-individual CV was 38% (16%-56%, n=16) for 20 peaks. CONCLUSIONS: The pre-analytical and analytical conditions of SELDI-TOF mass spectrometry of serum have a significant impact on the protein peaks, with the number of peaks low and the assay variation high...

  5. Human- Versus System-Level Factors and Their Effect on Electronic Work List Variation: Challenging Radiology's Fundamental Attribution Error.

    Science.gov (United States)

    Davenport, Matthew S; Khalatbari, Shokoufeh; Platt, Joel F

    2015-09-01

    The aim of this study was to analyze sources of variation influencing the unread volume on an electronic abdominopelvic CT work list and to compare those results with blinded radiologist perception. The requirement for institutional review board approval was waived for this HIPAA-compliant quality improvement effort. Data pertaining to an electronic abdominopelvic CT work list were analyzed retrospectively from July 1, 2013, to June 30, 2014, and modeled with respect to the unread case total at 6 pm (Monday through Friday, excluding holidays). Eighteen system-level factors outside individual control (eg, number of workers, workload) and 7 human-level factors within individual control (eg, individual productivity) were studied. Attending radiologist perception was assessed with a blinded anonymous survey (n = 12 of 15 surveys completed). The mean daily unread total was 24 (range, 3-72). The upper control limit (48 CT studies [3 SDs above the mean]) was exceeded 10 times. Multivariate analysis revealed that the rate of unread CT studies was affected principally by system-level factors, including the number of experienced trainees on service (postgraduate year 5 residents [odds ratio, 0.83; 95% confidence interval, 0.74-0.92; P = .0008] and fellows [odds ratio, 0.84; 95% confidence interval, 0.74-0.95; P = .005]) and the daily workload (P = .02 to P level factors best predict the variation in unread CT examinations, but blinded faculty radiologists believe that it relates most strongly to variable individual effort. Copyright © 2015 American College of Radiology. Published by Elsevier Inc. All rights reserved.

  6. Variation of gunshot injury patterns in mortality associated with human rights abuses and armed conflict: an exploratory study.

    Science.gov (United States)

    Baraybar, Jose Pablo

    2015-09-01

    -insurgency operations, a careful analysis of gunshot injury patterns could serve as an indicator that in fact murder, rather than combat, took place and the intention was to kill rather than to maim or render people unfit for battle. To compare the variation of gunshot injury patterns between mortality associated with human rights abuses and armed conflict in selected samples from different countries. Literature review and case analysis. Original statistical analysis of gunshot injuries on human remains (n=777) recovered from mass or clandestine graves associated with human rights abuses in countries in Somaliland, the Balkans and Peru (1983-1995) and literature review of mortality caused by armed conflicts. Mechanism of gunshot injury and wound distribution pattern in geographically diverse samples of human rights abuse. Copyright © 2015 The Chartered Society of Forensic Sciences. Published by Elsevier Ireland Ltd. All rights reserved.

  7. Maternal Height and Child Growth Patterns

    OpenAIRE

    Addo, O. Yaw; Stein, Aryeh D.; Fall, Caroline H.; Gigante, Denise P.; Guntupalli, Aravinda M.; Horta, Bernardo L.; Kuzawa, Christopher W.; Lee, Nanette; Norris, Shane A.; Prabhakaran, Poornima; Richter, Linda M.; Sachdev, Harshpal S.; Martorell, Reynaldo

    2013-01-01

    OBJECTIVE:\\ud To examine associations between maternal height and child growth during 4 developmental periods: intrauterine, birth to age 2 years, age 2 years to mid-childhood (MC), and MC to adulthood.\\ud \\ud STUDY DESIGN:\\ud Pooled analysis of maternal height and offspring growth using 7630 mother-child pairs from 5 birth cohorts (Brazil, Guatemala, India, the Philippines, and South Africa). We used conditional height measures that control for collinearity in height across periods. We estim...

  8. The taking of Lucas Heights

    International Nuclear Information System (INIS)

    Sandilands, B.

    1993-01-01

    Plans for a new research reactor at Lucas Heights have sparked a 'civil war' in New South Wales. The author considers the arguments. The leading antagonists are the local government body - The Sutherland Shire Council, Greenpeace, and the Sutherland Shire Environment Centre. Many of the economic benefits claimed for the existing and proposed replacement reactor have been tagged with question marks. However, ANSTO is confident of refuting claims that the money could be better spent on alternative methods of producing medical isotopes and neutron streams for industry or research, such as particle accelerators. If ANSTO's critics have their way, non-reactor-dependent work like the laser enrichment project could continue without the alleged hazards of sustained nuclear fission. If ANSTO wins the day, a far more efficient reactor will be built which is capable of keeping pace with the emerging nuclear industries of Asia. ills

  9. Genetically Determined Height and Coronary Artery Disease

    NARCIS (Netherlands)

    Nelson, Christopher P.; Hamby, Stephen E.; Saleheen, Danish; Hopewell, Jenna C.; Zeng, Lingyao; Assimes, Themistocles L.; Kanoni, Stavroula; Willenborg, Christina; Burgess, Stephen; Amouyel, Phillipe; Anand, Sonia; Blankenberg, Stefan; Boehm, Bernhard O.; Clarke, Robert J.; Collins, Rory; Dedoussis, George; Farrall, Martin; Franks, Paul W.; Groop, Leif; Hall, Alistair S.; Hamsten, Anders; Hengstenberg, Christian; Hovingh, G. Kees; Ingelsson, Erik; Kathiresan, Sekar; Kee, Frank; König, Inke R.; Kooner, Jaspal; Lehtimäki, Terho; März, Winifred; McPherson, Ruth; Metspalu, Andres; Nieminen, Markku S.; O'Donnell, Christopher J.; Palmer, Colin N. A.; Peters, Annette; Perola, Markus; Reilly, Muredach P.; Ripatti, Samuli; Roberts, Robert; Salomaa, Veikko; Shah, Svati H.; Schreiber, Stefan; Siegbahn, Agneta; Thorsteinsdottir, Unnur; Veronesi, Giovani; Wareham, Nicholas; Willer, Cristen J.; Zalloua, Pierre A.; Erdmann, Jeanette

    2015-01-01

    BACKGROUND The nature and underlying mechanisms of an inverse association between adult height and the risk of coronary artery disease (CAD) are unclear. METHODS We used a genetic approach to investigate the association between height and CAD, using 180 height-as