Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia.

Science.gov (United States)

Donovan, Frank X; Kimble, Danielle C; Kim, Yonghwan; Lach, Francis P; Harper, Ursula; Kamat, Aparna; Jones, MaryPat; Sanborn, Erica M; Tryon, Rebecca; Wagner, John E; MacMillan, Margaret L; Ostrander, Elaine A; Auerbach, Arleen D; Smogorzewska, Agata; Chandrasekharappa, Settara C

2016-05-01

Fanconi anemia (FA) is a rare inherited disorder caused by pathogenic variants in one of 19 FANC genes. FA patients display congenital abnormalities, and develop bone marrow failure, and cancer susceptibility. We identified homozygous mutations in four FA patients and, in each case, only one parent carried the obligate mutant allele. FANCA and FANCP/SLX4 genes, both located on chromosome 16, were the affected recessive FA genes in three and one family respectively. Genotyping with short tandem repeat markers and SNP arrays revealed uniparental disomy (UPD) of the entire mutation-carrying chromosome 16 in all four patients. One FANCA patient had paternal UPD, whereas FA in the other three patients resulted from maternal UPD. These are the first reported cases of UPD as a cause of FA. UPD indicates a reduced risk of having another child with FA in the family and has implications in prenatal diagnosis. © 2016 WILEY PERIODICALS, INC.

Genomic patterns associated with paternal/maternal distribution of transposable elements

Science.gov (United States)

Jurka, Jerzy

2003-03-01

Transposable elements (TEs) are specialized DNA or RNA fragments capable of surviving in intragenomic niches. They are commonly, perhaps unjustifiably referred to as "selfish" or "parasitic" elements. TEs can be divided in two major classes: retroelements and DNA transposons. The former include non-LTR retrotransposons and retrovirus-like elements, using reverse transriptase for their reproduction prior to integration into host DNA. The latter depend mostly on host DNA replication, with possible exception of rolling-circle transposons recently discovered by our team. I will review basic information on TEs, with emphasis on human Alu and L1 retroelements discussed in the context of genomic organization. TEs are non-randomly distributed in chromosomal DNA. In particular, human Alu elements tend to prefer GC-rich regions, whereas L1 accumulate in AT-rich regions. Current explanations of this phenomenon focus on the so called "target effects" and post-insertional selection. However, the proposed models appear to be unsatisfactory and alternative explanations invoking "channeling" to different chromosomal regions will be a major focus of my presentation. Transposable elements (TEs) can be expressed and integrated into host DNA in the male or female germlines, or both. Different models of expression and integration imply different proportions of TEs on sex chromosomes and autosomes. The density of recently retroposed human Alu elements is around three times higher on chromosome Y than on chromosome X, and over two times higher than the average density for all human autosomes. This implies Alu activity in paternal germlines. Analogous inter-chromosomal proportions for other repeat families should determine their compatibility with one of the three basic models describing the inheritance of TEs. Published evidence indicates that maternally and paternally imprinted genes roughly correspond to GC-rich and AT-rich DNA. This may explain the observed chromosomal distribution of

Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A.

Science.gov (United States)

Rivolta, Carlo; Berson, Eliot L; Dryja, Thaddeus P

2002-11-01

To evaluate a form of nonmendelian inheritance in a patient with retinitis pigmentosa (RP). Direct DNA sequencing of the USH2A coding region and microsatellite analysis of polymorphic markers from chromosome 1 and other chromosomes. A patient with RP without hearing loss caused by the homozygous mutation Cys759Phe in the USH2A gene on chromosome 1q was found to be the daughter of a noncarrier mother and a father who was heterozygous for this change. Further evaluation with microsatellite markers revealed that the patient had inherited 2 copies of chromosome 1 from her father and none from her mother. The paternally derived chromosome 1's were heteroallelic from the centromere of chromosome 1 to the proximal short and long arms. The distal regions of the short and long arms of chromosome 1 were homoallelic, including the region of 1q with the mutant USH2A allele. This genetic pattern is compatible with a phenomenon of uniparental primary heterodisomy with regions of homozygosity arising through a nondisjunction event during paternal meiosis I and subsequent trisomy rescue or gamete complementation. A paternal second cousin of the patient also had RP and also had an identical heterozygous mutation in the USH2A gene in the same codon. However, the analysis of an isocoding polymorphism 20 base pairs away and closely linked microsatellite markers in the patient and family members indicated that the 2 mutant alleles are unlikely to be identical by descent and that the 2 relatives fortuitously had RP and a mutation in the same codon of the USH2A gene. This family illustrates that recessive RP without hearing loss can rarely be inherited from only 1 unaffected carrier parent in a nonmendelian manner. The genetic counseling of families with recessively inherited eye diseases must take into consideration the possibility that an unaffected heterozygous carrier can have an affected offspring homozygous for the same mutation, even if the carrier's spouse has wild-type alleles

Paternity Cases within a Medicolegal Context: a Case Study of Heteropaternal Superfecundation in Iraq

Directory of Open Access Journals (Sweden)

Hannan K. Mahmood

2017-12-01

Full Text Available A case of paternity was referred to the Medical-Legal Directorate( MLD/ Baghdad in August 2011 .The family who were concerned was the  Father (41 years old ,mother (23 years old and 2 sons non identical twin (1.5year old . Paternity test includes Conventional Blood Group Markers, DNA and Y chromosome STR Typing were investigated . The DNA and Y chromosome STR Typing were tested  for the referred trios father and twins first , the results revealed an absolute exclusion of fatherhood relationship to both . , surprisingly the Y Chromosomeprofiles  revealed obviously that the two non identical twins were from different fathers or paternal descent. Maternity test was ought to be examined  for the assumed mother to rule out the possibility of switch of both babies in the hospital during their delivery and to prove their brotherhood relationship from mother side. The mother was referred and maternity was confirmed later using DNA Typing . Combined Maternity Index (CPI was calculated for twins ,The probability of Maternity were 99.98% and 99.95% for the1st and 2nd twin respectively. Key words : hetero paternal Superfecundation ,Non Identical twin,DNA Typing ,Y Chromosome STR Polymorphysim

Uniparental isodisomy of chromosome 14 in two cases: An abnormal child and a normal adult

Energy Technology Data Exchange (ETDEWEB)

Papenhausen, P.R.; Mueller, O.T.; Sutcliffe, M.; Diamond, T.M.; Kousseff, B.G. [Univ. of South Florida College of Medicine, Tampa, FL (United States); Johnson, V.P. [Univ. of South Dakota, Sioux Falls, SD (United States)

1995-11-20

Uniparental disomy (UPD) of a number of different chromosomes has been found in association with abnormal phenotypes. A growing body of evidence for an imprinting effect involving chromosome 14 has been accumulating. We report on a case of paternal UPD of chromosome 14 studied in late gestation due to polyhydramnios and a ventral wall hernia. A prenatal karyotype documented a balanced Robertsonian 14:14 translocation. The baby was born prematurely with hairy forehead, retrognathia, mild puckering of the lips and finger contractures. Hypotonia has persisted since birth and at age one year, a tracheostomy for laryngomalacia and gastrostomy for feeding remain necessary. Absence of maternal VNTR polymorphisms and homozygosity of paternal polymorphisms using chromosome 14 specific probes at D14S22 and D14S13 loci indicated paternal uniparental isodisomy (pUPID). Parental chromosomes were normal. We also report on a case of maternal LTPD in a normal patient with a balanced Robertsonian 14:14 translocation and a history of multiple miscarriages. Five previous reports of chromosome 14 UPD suggest that an adverse developmental effect may be more severe whenever the UPD is paternal in origin. This is the second reported patient with paternal UPD and the fifth reported with maternal UPD, and only few phenotypic similarities are apparent. Examination of these chromosome 14 UPD cases of maternal and paternal origin suggests that there are syndromic imprinting effects. 30 refs., 3 figs.

Paternal inheritance in mealybugs (Hemiptera: Coccoidea: Pseudococcidae)

Science.gov (United States)

Kol-Maimon, Hofit; Mendel, Zvi; Franco, José Carlos; Ghanim, Murad

2014-10-01

Mealybugs have a haplodiploid reproduction system, with paternal genome elimination (PGE); the males are diploid soon after fertilization, but during embryogenesis, the male paternal set of chromosomes becomes heterochromatic (HC) and therefore inactive. Previous studies have suggested that paternal genes can be passed on from mealybug males to their sons, but not necessarily by any son, to the next generation. We employed crosses between two mealybug species— Planococcus ficus (Signoret) and Planococcus citri (Risso)—and between two populations of P. ficus, which differ in their mode of pheromone attraction, in order to demonstrate paternal inheritance from males to F2 through F1 male hybrids. Two traits were monitored through three generations: mode of male pheromone attraction (pherotype) and sequences of the internal transcribed spacer 2 (ITS2) gene segment (genotype). Our results demonstrate that paternal inheritance in mealybugs can occur from males to their F2 offspring, through F1 males (paternal line). F2 backcrossed hybrid males expressed paternal pherotypes and ITS2 genotypes although their mother originated through a maternal population. Further results revealed other, hitherto unknown, aspects of inheritance in mealybugs, such as that hybridization between the two species caused absence of paternal traits in F2 hybrid females produced by F1 hybrid females. Furthermore, hybridization between the two species raised the question of whether unattracted males have any role in the interactions between P. ficus and P. citri.

High Y-chromosomal diversity and low relatedness between paternal lineages on a communal scale in the Western European Low Countries during the surname establishment

OpenAIRE

Larmuseau, M H D; Boon, N; Vanderheyden, N; Van Geystelen, A; Larmuseau, H F M; Matthys, K; De Clercq, W; Decorte, R

2015-01-01

There is limited knowledge on the biological relatedness between citizens and on the demographical dynamics within villages, towns and cities in pre-17th century Western Europe. By combining Y-chromosomal genotypes, in-depth genealogies and surname data in a strict genetic genealogical approach, it is possible to provide insights into the genetic diversity and the relatedness between indigenous paternal lineages within a particular community at the time of the surname adoption. To obtain thes...

Delayed manifestation and transmission bias of de novo chromosome mutations. Their relevance for radiation health effect

International Nuclear Information System (INIS)

Sasaki, Masao S.

2006-01-01

The origin and transmission of de novo chromosome mutations were reviewed on the basis of our chromosome studies in retinoblastoma patients and male infertility. In a series of 264 sporadic retinoblastoma families, gross chromosome rearrangements involving the RB1 locus were identified in 23 cases (8.7%), of which 16 were non-mosaic and 7 were mosaic mutations. The newly formed chromosome mutations, whether they were non-mosaic or mosaic, had a strong bias towards paternally derived chromosome, indicating that they shared a common mechanism where a pre-mutational event or instability is carried over to zygote by sperm and manifested as gross chromosome mutation at the early stages of development. The de novo chromosome mutations are preferentially transmitted through female carriers. This transmission bias is consistent with the finding of higher frequencies of translocation carriers in infertile men (7.69% versus 0.27% in general populations) in whom meiotic progression is severely suppressed, possibly through activation of meiotic checkpoints. Such a meiotic surveillance mechanism may minimize the spreading of newly-arisen chromosome mutations in populations. A quantitative model of meiotic surveillance mechanism is proposed and successfully applied to the published data on ''humped'' dose-response curves for radiation-induced spermatogonial reciprocal translocations in several mammalian species. (author)

An XXX male resulting from paternal X-Y interchange and maternal X-X nondisjunction.

Science.gov (United States)

Annerén, G; Andersson, M; Page, D C; Brown, L G; Berg, M; Läckgren, G; Gustavson, K H; de la Chapelle, A

1987-01-01

A 2-year-old boy was found to have a 47,XXX karyotype. Restriction-fragment-length-polymorphism analysis showed that, of his three X chromosomes, one is of paternal and two are of maternal origin. The results of Y-DNA hybridization were reminiscent of those in XX males in two respects. First, hybridization to Southern transfers revealed the presence in this XXX male of sequences derived from the Y-chromosomal short arm. Second, in situ hybridization showed that this Y DNA was located on the tip of the X-chromosomal short arm. We conclude that this XXX male resulted from the coincidence of X-X nondisjunction during maternal meiosis and aberrant X-Y interchange either during or prior to paternal meiosis. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 Fig. 5 PMID:2889356

Different Implications of Paternal and Maternal Atopy for Perinatal IgE Production and Asthma Development

OpenAIRE

Wu, Chih-Chiang; Chen, Rong-Fu; Kuo, Ho-Chang

2012-01-01

Asthma is a hereditary disease associated with IgE-mediated reaction. Whether maternal atopy and paternal atopy have different impacts on perinatal IgE production and asthma development remains unclear. This paper reviews and summarizes the effects of maternal and paternal atopy on the developmental aspects of IgE production and asthma. Maternal atopy affects both pre- and postnatal IgE production, whereas paternal atopy mainly affects the latter. Maternally transmitted genes GSTP1 and FceRI-...

SCHIZOPHRENIA AND BIRTHPLACE OF PATERNAL AND MATERNAL GRANDFATHER IN THE JERUSALEM PERINATAL COHORT PROSPECTIVE STUDY

Science.gov (United States)

Harlap, S; Perrin, M C; Deutsch, L; Kleinhaus, K; Fennig, S; Nahon, D; Teitelbaum, A; Friedlander, Y; Malaspina, D

2009-01-01

Some forms of epigenetic abnormalities transmitted to offspring are manifest in differences in disease incidence that depend on parent-of-origin. To explore whether such phenomena might operate in schizophrenia spectrum disorders, we estimated the relative incidence of these conditions in relation to parent-of-origin by considering the two grandfathers' countries of birth. In a prospective cohort of 88,829 offspring, born in Jerusalem in 1964–76 we identified 637 cases through Israel's psychiatric registry. Relative risks (RR) were estimated for paternal and maternal grandfathers' countries of birth using proportional hazards methods, controlling for parents' ages, low social class and duration of marriage. After adjusting for multiple observations, we found no significant differences between descendants of maternal or paternal grandfathers born in Iraq, Iran, Turkey, Syria, Yemen, Morocco, Algeria, Tunisia, Libya/Egypt, Poland, USSR, Czechoslovakia, Germany or the USA. Those with paternal grandfathers from Romania (RR=1.9, 95% CI=1.3–2.8) or Hungary (1.6, 1.0–2.6) showed an increased incidence; however, those with maternal grandfathers from these countries experienced reduced incidence (RR=0.5, 0.3–0.8 and 0.4, 0.2–0.8). In post-hoc analyses we found that results were similar whether the comparison groups were restricted to descendants of other Europeans or included those from Western Asia and North Africa; and effects of paternal grandfathers from Romania/Hungary were more pronounced in females, while effects of maternal grandfathers from these countries were similar in males and females. These post-hoc “hypothesis-generating” findings lead one to question whether some families with ancestors in Romania or Hungary might carry a variant or mutation at a parentally imprinted locus that is altering susceptibility to schizophrenia. Such a locus, if it exists, might involve the X chromosome. PMID:19361958

Schizophrenia and birthplace of paternal and maternal grandfather in the Jerusalem perinatal cohort prospective study.

Science.gov (United States)

Harlap, S; Perrin, M C; Deutsch, L; Kleinhaus, K; Fennig, S; Nahon, D; Teitelbaum, A; Friedlander, Y; Malaspina, D

2009-06-01

Some forms of epigenetic abnormalities transmitted to offspring are manifested in differences in disease incidence that depend on parent-of-origin. To explore whether such phenomena might operate in schizophrenia spectrum disorders, we estimated the relative incidence of these conditions in relation to parent-of-origin by considering the two grandfathers' countries of birth. In a prospective cohort of 88,829 offspring, born in Jerusalem in 1964-76 we identified 637 cases through Israel's psychiatric registry. Relative risks (RR) were estimated for paternal and maternal grandfathers' countries of birth using proportional hazards methods, controlling for parents' ages, low social class and duration of marriage. After adjusting for multiple observations, we found no significant differences between descendants of maternal or paternal grandfathers born in Iraq, Iran, Turkey, Syria, Yemen, Morocco, Algeria, Tunisia, Libya/Egypt, Poland, USSR, Czechoslovakia, Germany or the USA. Those with paternal grandfathers from Romania (RR=1.9, 95% CI=1.3-2.8) or Hungary (1.6, 1.0-2.6) showed an increased incidence; however, those with maternal grandfathers from these countries experienced reduced incidence (RR=0.5, 0.3-0.8 and 0.4, 0.2-0.8). In post-hoc analyses we found that results were similar whether the comparison groups were restricted to descendants of other Europeans or included those from Western Asia and North Africa; and effects of paternal grandfathers from Romania/Hungary were more pronounced in females, while effects of maternal grandfathers from these countries were similar in males and females. These post-hoc "hypothesis-generating" findings lead one to question whether some families with ancestors in Romania or Hungary might carry a variant or mutation at a parentally imprinted locus that is altering susceptibility to schizophrenia. Such a locus, if it exists, might involve the X chromosome.

Northern Slavs from Serbia do not show a founder effect at autosomal and Y-chromosomal STRs and retain their paternal genetic heritage.

Science.gov (United States)

Rębała, Krzysztof; Veselinović, Igor; Siváková, Daniela; Patskun, Erika; Kravchenko, Sergey; Szczerkowska, Zofia

2014-01-01

Studies on Y-chromosomal markers revealed significant genetic differentiation between Southern and Northern (Western and Eastern) Slavic populations. The northern Serbian region of Vojvodina is inhabited by Southern Slavic Serbian majority and, inter alia, Western Slavic (Slovak) and Eastern Slavic (Ruthenian) minorities. In the study, 15 autosomal STR markers were analysed in unrelated Slovaks, Ruthenians and Serbs from northern Serbia and western Slovakia. Additionally, Slovak males from Serbia were genotyped for 17 Y-chromosomal STR loci. The results were compared to data available for other Slavic populations. Genetic distances for autosomal markers revealed homogeneity between Serbs from northern Serbia and Slovaks from western Slovakia and distinctiveness of Serbian Slovaks and Ruthenians. Y-STR variation showed a clear genetic departure of the Slovaks and Ruthenians inhabiting Vojvodina from their Serbian neighbours and genetic similarity to the Northern Slavic populations of Slovakia and Ukraine. Admixture estimates revealed negligible Serbian paternal ancestry in both Northern Slavic minorities of Vojvodina, providing evidence for their genetic isolation from the Serbian majority population. No reduction of genetic diversity at autosomal and Y-chromosomal markers was found, excluding genetic drift as a reason for differences observed at autosomal STRs. Analysis of molecular variance detected significant population stratification of autosomal and Y-chromosomal microsatellites in the three Slavic populations of northern Serbia, indicating necessity for separate databases used for estimations of frequencies of autosomal and Y-chromosomal STR profiles in forensic casework. Our results demonstrate that regarding Y-STR haplotypes, Serbian Slovaks and Ruthenians fit in the Eastern European metapopulation defined in the Y chromosome haplotype reference database. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

Heteromorphic Sex Chromosomes: Navigating Meiosis without a Homologous Partner

OpenAIRE

Checchi, Paula M.; Engebrecht, JoAnne

2011-01-01

Accurate chromosome segregation during meiosis relies on homology between the maternal and paternal chromosomes. Yet by definition, sex chromosomes of the heterogametic sex lack a homologous partner. Recent studies in a number of systems have shed light on the unique meiotic behavior of heteromorphic sex chromosomes, and highlight both the commonalities and differences in divergent species. During meiotic prophase, the homology-dependent processes of pairing, synapsis, and recombination have ...

Paternal inheritance of B chromosomes in a parthenogenetic hermaphrodite

NARCIS (Netherlands)

Beukeboom, Leo W.; Seif, Miriam; Mettenmeyer, Thomas; Plowman, Amy B.; Michiels, Nicolaas K.

1996-01-01

B chromosomes are dispensable elements extra to the standard (A) chromosome complement. They have been described from many sexually reproducing species where they often exploit meiosis to accumulate from one generation to the next. Polycelis nigra is a simultaneously hermaphroditic flatworm that can

Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction.

Science.gov (United States)

Gyftodimou, J; Karadima, G; Pandelia, E; Vassilopoulos, D; Petersen, M B

1999-06-01

We report a case of Angelman syndrome (AS) with paternal uniparental disomy (pUPD) of chromosome 15. This 6-year-old girl with overgrowth had frequent, but only provoked laughter, was mildly ataxic with limb hypertonia, and had no intelligible speech. She had deep-set eyes, protruding tongue, and prominent chin. The karyotype was normal. DNA analysis with microsatellites from chromosome 15 showed no inheritance of maternal alleles both within and outside the AS critical region. Proximal markers showed reduction to homozygosity of paternal alleles, intermediate markers showed nonreduction, and distal markers reduction, thus suggesting a meiosis II nondisjunction event in the father with two crossovers. This is, to our knowledge, the first reported case of AS due to meiosis II nondisjunction. We present detailed physical measurements in this patient, adding to the clinical description of the milder phenotype in AS due to pUPD.

High resolution melt-curve analysis to fine map a locus controlling the paternal sorting of mitochondria

Science.gov (United States)

Mitochondria are required for normal growth and development and play an important role in programmed cell death and aging. The mitochondrial DNA is maternally transmitted in the vast majority of eukaryotes. One exception is cucumber (Cucumis sativus), whose mitochondrial DNA is paternally transmit...

X-linked gene expression and X-chromosome inactivation: marsupials, mouse, and man compared.

Science.gov (United States)

VandeBerg, J L; Robinson, E S; Samollow, P B; Johnston, P G

1987-01-01

The existence of paternal X inactivation in Australian and American marsupial species suggests that this feature of X-chromosome dosage compensation is not a recent adaptation, but probably predates the evolutionary separation of the Australian and American marsupial lineages. Although it is theoretically possible that the marsupial system is one of random X inactivation with p greater than 0.99 and q less than 0.01 and dependent on parental source, no instance of random X inactivation (p = q or p not equal to q) has ever been verified in any tissue or cell type of any marsupial species. Therefore, we conclude that the most fundamental difference in X inactivation of marsupials and eutherians is whether the inactive X is the paternal one or is determined at random (with p = q in most but not all cases). The only other unequivocal difference between eutherians and marsupials is that both X chromosomes are active in mice and human oocytes, but not in kangaroo oocytes. Apparently, the inactive X is reactivated at a later meiotic stage or during early embryogenesis in kangaroos. X-chromosome inactivation takes place early in embryogenesis of eutherians and marsupials. Extraembryonic membranes of mice exhibit paternal X inactivation, whereas those of humans seem to exhibit random X inactivation with p greater than q (i.e., preferential paternal X inactivation). In general, extraembryonic membranes of marsupial exhibit paternal X inactivation, but the Gpd locus is active on both X chromosomes in at least some cells of kangaroo yolk sac. It is difficult to draw any general conclusion because of major differences in embryogeny of mice, humans, and marsupials, and uncertainties in interpreting the data from humans. Other differences between marsupials and eutherians in patterns of X-linked gene expression and X-chromosome inactivation seem to be quantitative rather than qualitative. Partial expression of some genes on the inactive X is characteristic of marsupials, with

High Y-chromosomal diversity and low relatedness between paternal lineages on a communal scale in the Western European Low Countries during the surname establishment.

Science.gov (United States)

Larmuseau, M H D; Boon, N; Vanderheyden, N; Van Geystelen, A; Larmuseau, H F M; Matthys, K; De Clercq, W; Decorte, R

2015-07-01

There is limited knowledge on the biological relatedness between citizens and on the demographical dynamics within villages, towns and cities in pre-17th century Western Europe. By combining Y-chromosomal genotypes, in-depth genealogies and surname data in a strict genetic genealogical approach, it is possible to provide insights into the genetic diversity and the relatedness between indigenous paternal lineages within a particular community at the time of the surname adoption. To obtain these insights, six Flemish communities were selected in this study based on the differences in geography and historical development. After rigorous selection of appropriate DNA donors, low relatedness between Y chromosomes of different surnames was found within each community, although there is co-occurrence of these surnames in each community since the start of the surname adoption between the 14th and 15th century. Next, the high communal diversity in Y-chromosomal lineages was comparable with the regional diversity across Flanders at that time. Moreover, clinal distributions of particular Y-chromosomal lineages between the communities were observed according to the clinal distributions earlier observed across the Flemish regions and Western Europe. No significant indication for genetic differences between communities with distinct historical development was found in the analysis. These genetic results provide relevant information for studies in historical sciences, archaeology, forensic genetics and genealogy.

Different implications of paternal and maternal atopy for perinatal IgE production and asthma development.

Science.gov (United States)

Wu, Chih-Chiang; Chen, Rong-Fu; Kuo, Ho-Chang

2012-01-01

Asthma is a hereditary disease associated with IgE-mediated reaction. Whether maternal atopy and paternal atopy have different impacts on perinatal IgE production and asthma development remains unclear. This paper reviews and summarizes the effects of maternal and paternal atopy on the developmental aspects of IgE production and asthma. Maternal atopy affects both pre- and postnatal IgE production, whereas paternal atopy mainly affects the latter. Maternally transmitted genes GSTP1 and FceRI-beta are associated with lung function and allergic sensitization, respectively. In IgE production and asthma development, the maternal influence on gene-environment interaction is greater than paternal influence. Maternal, paternal, and/or postnatal environmental modulation of allergic responses have been linked to epigenetic mechanisms, which may be good targets for early prevention of asthma.

Different Implications of Paternal and Maternal Atopy for Perinatal IgE Production and Asthma Development

Directory of Open Access Journals (Sweden)

Chih-Chiang Wu

2012-01-01

Full Text Available Asthma is a hereditary disease associated with IgE-mediated reaction. Whether maternal atopy and paternal atopy have different impacts on perinatal IgE production and asthma development remains unclear. This paper reviews and summarizes the effects of maternal and paternal atopy on the developmental aspects of IgE production and asthma. Maternal atopy affects both pre- and postnatal IgE production, whereas paternal atopy mainly affects the latter. Maternally transmitted genes GSTP1 and FceRI-beta are associated with lung function and allergic sensitization, respectively. In IgE production and asthma development, the maternal influence on gene-environment interaction is greater than paternal influence. Maternal, paternal, and/or postnatal environmental modulation of allergic responses have been linked to epigenetic mechanisms, which may be good targets for early prevention of asthma.

Paternal epigenetic effects of population density on locust phase-related characteristics associated with heat-shock protein expression.

Science.gov (United States)

Chen, Bing; Li, Shaoqin; Ren, Qiang; Tong, Xiwen; Zhang, Xia; Kang, Le

2015-02-01

Many species exhibit transgenerational plasticity by which environmental cues experienced by either parent can be transmitted to their offspring, resulting in phenotypic variants in offspring to match ancestral environments. However, the manner by which paternal experiences affect offspring plasticity through epigenetic inheritance in animals generally remains unclear. In this study, we examined the transgenerational effects of population density on phase-related traits in the migratory locust Locusta migratoria. Using an experimental design that explicitly controls genetic background, we found that the effects of crowd or isolation rearing on phase plasticity could be inherited to the offspring. The isolation of gregarious locusts resulted in reduced weight in offspring eggs and altered morphometric traits in hatchlings, whereas crowding of solitarious locusts exhibited opposite effects. The consequences of density changes were transmitted by both maternal and paternal inheritance, although the expression of paternal effects was not as pronounced as that of maternal effects. Prominent expression of heat-shock proteins (Hsps), such as Hsp90, Hsp70 and Hsp20.6, could be triggered by density changes. Hsps were significantly upregulated upon crowding but downregulated upon isolation. The variation in parental Hsp expression was also transmitted to the offspring, in which the pattern of inheritance was consistent with that of phase characteristics. These results revealed a paternal effect on phase polyphenism and Hsp expression induced by population density, and defined a model system that could be used to study the paternal epigenetic inheritance of environmental changes. © 2015 John Wiley & Sons Ltd.

Structure and evolution of the Y-chromosomal and mitochondrial DNA of cattle

NARCIS (Netherlands)

Verkaar, Edward Louis Christian

2003-01-01

The research described in this thesis is focused on the structure and evolution of the bovine Y-chromosome and the use of paternal markers in molecular diagnostics. The Y-chromosome has emerged together with the X-chromosome early during the evolution of the mammals by differentiation of a pair of

Short-limb dwarfism and hypertrophic cardiomyopathy in a patient with paternal isodisomy 14: 45,XYidic(14)(p11)

Energy Technology Data Exchange (ETDEWEB)

Walter, C.A.; Moore, C.M.; Kaye, C.I. [Univ. of Texas Health Science Center, San Antonio, TX (United States)] [and others

1996-11-11

Uniparental disomy (UPD) has been shown to result in specific disorders either due to imprinting and/or homozygosity of mutant alleles. Here we present the findings in a child with paternal UPD14. Ultrasound evaluation was performed at 30 weeks of gestation because of abnormally large uterine size. Pertinent ultrasound findings included polyhydramnios, short limbs, abnormal position of hands, small thorax, and nonvisualization of the fetal stomach. Postnatally the infant was found to have a low birth weight, short birth length, contractures, short limbs, and a small thorax with upslanting ribs. Assisted ventilation and gastrostomy were required. At age 6 months, the infant required hospitalization for hypertrophic cardiomyopathy which responded to Atenolol{reg_sign}. Initial cytogenetic studies demonstrated an apparently balanced de novo Robertsonian translocation involving chromosomes 14 and a karyotype designation of 45,XY,t(14q14q). No indication of mosaicism for trisomy 14 was observed in metaphase spreads prepared from peripheral blood lymphocytes or skin-derived fibroblasts. C-band and fluorescence in situ hybridization results demonstrated that the chromosome was dicentric. DNA analyses showed paternal uniparental isodisomy for chromosome 14. Based on the cytogenetic and DNA results a final karyotype designation of 45,XY,idic(14)(p11) was assigned to this infant with paternal isodisomy of chromosome 14. 41 refs., 5 figs., 2 tabs.

Independent origins of Indian caste and tribal paternal lineages.

Science.gov (United States)

Cordaux, Richard; Aunger, Robert; Bentley, Gillian; Nasidze, Ivane; Sirajuddin, S M; Stoneking, Mark

2004-02-03

The origins of the nearly one billion people inhabiting the Indian subcontinent and following the customs of the Hindu caste system are controversial: are they largely derived from Indian local populations (i.e. tribal groups) or from recent immigrants to India? Archaeological and linguistic evidence support the latter hypothesis, whereas recent genetic data seem to favor the former hypothesis. Here, we analyze the most extensive dataset of Indian caste and tribal Y chromosomes to date. We find that caste and tribal groups differ significantly in their haplogroup frequency distributions; caste groups are homogeneous for Y chromosome variation and more closely related to each other and to central Asian groups than to Indian tribal or any other Eurasian groups. We conclude that paternal lineages of Indian caste groups are primarily descended from Indo-European speakers who migrated from central Asia approximately 3,500 years ago. Conversely, paternal lineages of tribal groups are predominantly derived from the original Indian gene pool. We also provide evidence for bidirectional male gene flow between caste and tribal groups. In comparison, caste and tribal groups are homogeneous with respect to mitochondrial DNA variation, which may reflect the sociocultural characteristics of the Indian caste society.

Round Spermatid Injection Rescues Female Lethality of a Paternally Inherited Xist Deletion in Mouse.

Directory of Open Access Journals (Sweden)

Federica Federici

2016-10-01

Full Text Available In mouse female preimplantation embryos, the paternal X chromosome (Xp is silenced by imprinted X chromosome inactivation (iXCI. This requires production of the noncoding Xist RNA in cis, from the Xp. The Xist locus on the maternally inherited X chromosome (Xm is refractory to activation due to the presence of an imprint. Paternal inheritance of an Xist deletion (XpΔXist is embryonic lethal to female embryos, due to iXCI abolishment. Here, we circumvented the histone-to-protamine and protamine-to-histone transitions of the paternal genome, by fertilization of oocytes via injection of round spermatids (ROSI. This did not affect initiation of XCI in wild type female embryos. Surprisingly, ROSI using ΔXist round spermatids allowed survival of female embryos. This was accompanied by activation of the intact maternal Xist gene, initiated with delayed kinetics, around the morula stage, resulting in Xm silencing. Maternal Xist gene activation was not observed in ROSI-derived males. In addition, no Xist expression was detected in male and female morulas that developed from oocytes fertilized with mature ΔXist sperm. Finally, the expression of the X-encoded XCI-activator RNF12 was enhanced in both male (wild type and female (wild type as well as XpΔXist ROSI derived embryos, compared to in vivo fertilized embryos. Thus, high RNF12 levels may contribute to the specific activation of maternal Xist in XpΔXist female ROSI embryos, but upregulation of additional Xp derived factors and/or the specific epigenetic constitution of the round spermatid-derived Xp are expected to be more critical. These results illustrate the profound impact of a dysregulated paternal epigenome on embryo development, and we propose that mouse ROSI can be used as a model to study the effects of intergenerational inheritance of epigenetic marks.

Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females

Energy Technology Data Exchange (ETDEWEB)

Pegoraro, E.; Wessel, H.B.; Schwartz, L.; Hoffman, E.P. (Univ. of Pittsburgh, PA (United States)); Schimke, R.N. (Kansas Univ. Medical Center, Kansas City (United States)); Arahata, Kiichi; Hayashi, Yukiko (National Institute of Neurosciences, Tokyo (Japan)); Stern, H. (Children' s National Medical Center, Washington, DC (United States)); Marks, H. (A.I. duPont Institute, Wilmington (United States)); Glasberg, M.R. (Henry Ford Hospital, Detroit, MI (United States)) (and others)

1994-06-01

Duchenne muscular dystrophy is one of the most common lethal monogenic disorders and is caused by dystrophin deficiency. The disease is transmitted as an X-linked recessive trait; however, recent biochemical and clinical studies have shown that many girls and women with a primary myopathy have an underlying dystrophinopathy, despite a negative family history for Duchenne dystrophy. These isolated female dystrophinopathy patients carried ambiguous diagnoses with presumed autosomal recessive inheritance (limb-girdle muscular dystrophy) prior to biochemical detection of dystrophin abnormalities in their muscle biopsy. It has been assumed that these female dystrophinopathy patients are heterozygous carries who show preferential inactivation of the X chromosome harboring the normal dystrophin gene, although this has been shown for only a few X:autosome translocations and for two cases of discordant monozygotic twin female carriers. Here the authors study X-inactivation patterns of 13 female dystrophinopathy patients - 10 isolated cases and 3 cases with a positive family history for Duchenne dystrophy in males. They show that all cases have skewed X-inactivation patterns in peripheral blood DNA. Of the nine isolated cases informative in the assay, eight showed inheritance of the dystrophin gene mutation from the paternal germ line. Only a single case showed maternal inheritance. The 10-fold higher incidence of paternal transmission of dystrophin gene mutations in these cases is at 30-fold variance with Bayesian predictions and gene mutation rates. Thus, the results suggest some mechanistic interaction between new dystrophin gene mutations, paternal inheritance, and skewed X inactivation. The results provide both empirical risk data and a molecular diagnostic test method, which permit genetic counseling and prenatal diagnosis of this new category of patients. 58 refs., 7 figs., 2 tabs.

Paternal mtDNA and maleness are co-inherited but not causally linked in mytilid mussels.

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Ellen L Kenchington

Full Text Available BACKGROUND: In marine mussels of the genus Mytilus there are two mitochondrial genomes. One is transmitted through the female parent, which is the normal transmission route in animals, and the other is transmitted through the male parent which is an unusual phenomenon. In males the germ cell line is dominated by the paternal mitochondrial genome and the somatic cell line by the maternal. Research to date has not allowed a clear answer to the question of whether inheritance of the paternal genome is causally related to maleness. METHODOLOGY/PRINCIPAL FINDINGS: Here we present results from hybrid crosses, from triploid mussels and from observations of sperm mitochondria in fertilized eggs which clearly show that maleness and presence of the paternal mitochondrial genome can be decoupled. These same results show that the female mussel has exclusive control of whether her progeny will inherit the mitochondrial genome of the male parent. CONCLUSIONS/SIGNIFICANCE: These findings are important in our efforts to understand the mechanistic basis of this unusual mode of mitochondrial DNA inheritance that is common among bivalves.

Paternal lineage early onset hereditary ovarian cancers: A Familial Ovarian Cancer Registry study.

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Kevin H Eng

2018-02-01

Full Text Available Given prior evidence that an affected woman conveys a higher risk of ovarian cancer to her sister than to her mother, we hypothesized that there exists an X-linked variant evidenced by transmission to a woman from her paternal grandmother via her father. We ascertained 3,499 grandmother/granddaughter pairs from the Familial Ovarian Cancer Registry at the Roswell Park Cancer Institute observing 892 informative pairs with 157 affected granddaughters. We performed germline X-chromosome exome sequencing on 186 women with ovarian cancer from the registry. The rate of cancers was 28.4% in paternal grandmother/granddaughter pairs and 13.9% in maternal pairs consistent with an X-linked dominant model (Chi-square test X2 = 0.02, p = 0.89 and inconsistent with an autosomal dominant model (X2 = 20.4, p<0.001. Paternal grandmother cases had an earlier age-of-onset versus maternal cases (hazard ratio HR = 1.59, 95%CI: 1.12-2.25 independent of BRCA1/2 status. Reinforcing the X-linked hypothesis, we observed an association between prostate cancer in men and ovarian cancer in his mother and daughters (odds ratio, OR = 2.34, p = 0.034. Unaffected mothers with affected daughters produced significantly more daughters than sons (ratio = 1.96, p<0.005. We performed exome sequencing in reported BRCA negative cases from the registry. Considering age-of-onset, one missense variant (rs176026 in MAGEC3 reached chromosome-wide significance (Hazard ratio HR = 2.85, 95%CI: 1.75-4.65 advancing the age of onset by 6.7 years. In addition to the well-known contribution of BRCA, we demonstrate that a genetic locus on the X-chromosome contributes to ovarian cancer risk. An X-linked pattern of inheritance has implications for genetic risk stratification. Women with an affected paternal grandmother and sisters of affected women are at increased risk for ovarian cancer. Further work is required to validate this variant and to characterize carrier families.

Reinvestigations of six unusual paternity cases by typing of autosomal single-nucleotide polymorphisms

DEFF Research Database (Denmark)

Børsting, Claus; Morling, Niels

2012-01-01

and published as case work examples in forensic journals. Here, the cases were reinvestigated by typing the samples for 49 autosomal single-nucleotide polymorphisms (SNPs) using the SNPforID multiplex assay. RESULTS: Three cases were solved by the SNP investigation without the need for any additional testing....... In two cases, the SNP results supported the conclusions based on STRs. In the last case, the SNP results spoke in favor of paternity, and the combined paternity index based on autosomal STRs and SNPs was 12.3 billion. Nevertheless, the alleged father was excluded by X-chromosome typing. CONCLUSION...

An efficient multiplex genotyping approach for detecting the major worldwide human Y-chromosome haplogroups

NARCIS (Netherlands)

M. van Oven (Mannis); M.H. Kayser (Manfred); A. Ralf (Arwin)

2011-01-01

textabstractAbstract The Y chromosome is paternally inherited and therefore serves as an evolutionary marker of patrilineal descent. Worldwide DNA variation within the non-recombining portion of the Y chromosome can be represented as a monophyletic phylogenetic tree in which the branches

Balinese Y-chromosome perspective on the peopling of Indonesia: genetic contributions from pre-neolithic hunter-gatherers, Austronesian farmers, and Indian traders.

Science.gov (United States)

Karafet, Tatiana M; Lansing, J S; Redd, Alan J; Reznikova, Svetlana; Watkins, Joseph C; Surata, S P K; Arthawiguna, W A; Mayer, Laura; Bamshad, Michael; Jorde, Lynn B; Hammer, Michael F

2005-02-01

The island of Bali lies near the center of the southern chain of islands in the Indonesian archipelago, which served as a stepping-stone for early migrations of hunter-gatherers to Melanesia and Australia and for more recent migrations of Austronesian farmers from mainland Southeast Asia to the Pacific. Bali is the only Indonesian island with a population that currently practices the Hindu religion and preserves various other Indian cultural, linguistic, and artistic traditions (Lansing 1983). Here, we examine genetic variation on the Y chromosomes of 551 Balinese men to investigate the relative contributions of Austronesian farmers and pre-Neolithic hunter-gatherers to the contemporary Balinese paternal gene pool and to test the hypothesis of recent paternal gene flow from the Indian subcontinent. Seventy-one Y-chromosome binary polymorphisms (single nucleotide polymorphisms, SNPs) and 10 Y-chromosome-linked short tandem repeats (STRs) were genotyped on a sample of 1,989 Y chromosomes from 20 populations representing Indonesia (including Bali), southern China, Southeast Asia, South Asia, the Near East, and Oceania. SNP genotyping revealed 22 Balinese lineages, 3 of which (O-M95, O-M119, and O-M122) account for nearly 83.7% of Balinese Y chromosomes. Phylogeographic analyses suggest that all three major Y-chromosome haplogroups migrated to Bali with the arrival of Austronesian speakers; however, STR diversity patterns associated with these haplogroups are complex and may be explained by multiple waves of Austronesian expansion to Indonesia by different routes. Approximately 2.2% of contemporary Balinese Y chromosomes (i.e., K-M9*, K-M230, and M lineages) may represent the pre-Neolithic component of the Indonesian paternal gene pool. In contrast, eight other haplogroups (e.g., within H, J, L, and R), making up approximately 12% of the Balinese paternal gene pool, appear to have migrated to Bali from India. These results indicate that the Austronesian expansion had a

Reconstruction of major maternal and paternal lineages of the Cape Muslim population

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Shafieka Isaacs

2013-01-01

Full Text Available The earliest Cape Muslims were brought to the Cape (Cape Town -South Africa from Africa and Asia from 1652 to 1834. They were part of an involuntary migration of slaves, political prisoners and convicts, and they contributed to the ethnic diversity of the present Cape Muslim population of South Africa. The history of the Cape Muslims has been well documented and researched however no in-depth genetic studies have been undertaken. The aim of the present study was to determine the respective African, Asian and European contributions to the mtDNA (maternal and Y-chromosomal (paternal gene pool of the Cape Muslim population, by analyzing DNA samples of 100 unrelated Muslim males born in the Cape Metropolitan area. A panel of six mtDNA and eight Y-chromosome SNP markers were screened using polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP. Overall admixture estimates for the maternal line indicated Asian (0.4168 and African mtDNA (0.4005 as the main contributors. The admixture estimates for the paternal line, however, showed a predominance of the Asian contribution (0.7852. The findings are in accordance with historical data on the origins of the early Cape Muslims.

Y-chromosome-specific microsatellite mutation rates re-examined using a minisatellite, MSY1.

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Jobling, M A; Heyer, E; Dieltjes, P; de Knijff, P

1999-10-01

Polymorphic Y-chromosome-specific microsatellites are becoming increasingly used in evolutionary and forensic studies and, in particular, in dating the origins of Y-chromosomal lineages. Previously, haplotyping of Y chromosomes from males belonging to a set of deep-rooting pedigrees was used to estimate a conservative average Y-chromosomal microsatellite mutation rate of 2.1 x 10(-3)per locus per generation. A number of males showed multiple differences in haplotypes compared with other males within their pedigrees, and these were excluded from the calculation of this estimate, on the grounds that non-paternity was a more probable explanation than multiple mutation within a lineage. Here we reanalyse the pedigrees using an independent highly polymorphic system, the Y-specific minisatellite, MSY1. This supports the hypothesis of non-paternity where more than one microsatellite difference was observed, provides further support for the previously deduced microsatellite mutation rate and throws light on the mutation dynamics of MSY1 itself, suggesting that single-step changes are not the only mode of mutation.

Genetic analysis of maternal and paternal lineages in Kabardian horses by uniparental molecular markers

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Aliy-bek D. Khaudov

2018-02-01

Full Text Available Studies of mitochondrial DNA (mtDNA as well as the non-recombining part of the Y chromosome help to understand the origin and distribution of maternal and paternal lineages. The Kabardian horse from Northern Caucasia which is well-known for strength, stamina and endurance in distance riding has a large gap in its breeding documentation especially in the recent past. A 309 bp fragment of the mitochondrial D-loop (156 Kabardian horses and six mutations in Y chromosome (49 Kabardian stallions, respectively, were analyzed to get a better insight into breeding history, phylogenetic relationship to related breeds, maternal and paternal diversity and genetic structure. We found a high mitochondrial diversity represented by 64 D-loop haplotypes out of 14 haplogroups. The most frequent haplogroups were G (19.5%, L (12.3%, Q (11.7%, and B (11.0%. Although these four haplogroups are also frequently found in Asian riding horses (e.g. Buryat, Kirghiz, Mongolian, Transbaikalian, Tuvinian the percentage of the particular haplogroups varies sometimes remarkable. In contrast, the obtained haplogroup pattern from Kabardian horse was more similar to that of breeds reared in the Middle East. No specific haplotype cluster was observed in the phylogenetic tree for Kabardian horses. On Kabardian Y chromosome, two mutations were found leading to three haplotypes with a percentage of 36.7% (haplotype HT1, 38.8% (haplotype HT2 and 24.5% (haplotype HT3, respectively. The high mitochondrial and also remarkable paternal diversity of the Kabardian horse is caused by its long history with a widely spread maternal origin and the introduction of Arabian as well as Thoroughbred influenced stallions for improvement. This high genetic diversity provides a good situation for the ongoing breed development and performance selection as well as avoiding inbreeding.

Who wants paternalism?

DEFF Research Database (Denmark)

Pedersen, Sofie K.; Koch, Alexander Karl; Nafziger, Julia

2014-01-01

Little is known about the demand side of paternalism. We investigate attitudes towards paternalism among Danish students. The main question is whether demand for paternalism is related to self-control, either because people with self-control problems seek commitment devices to overcome these prob...

Y chromosome STR typing in crime casework.

Science.gov (United States)

Roewer, Lutz

2009-01-01

Since the beginning of the nineties the field of forensic Y chromosome analysis has been successfully developed to become commonplace in laboratories working in crime casework all over the world. The ability to identify male-specific DNA renders highly variable Y-chromosomal polymorphisms, the STR sequences, an invaluable addition to the standard panel of autosomal loci used in forensic genetics. The male-specificity makes the Y chromosome especially useful in cases of male/female cell admixture, namely in sexual assault cases. On the other hand, the haploidy and patrilineal inheritance complicates the interpretation of a Y-STR match, because male relatives share for several generations an identical Y-STR profile. Since paternal relatives tend to live in the geographic and cultural territory of their ancestors, the Y chromosome analysis has a potential to make inferences on the population of origin of a given DNA profile. This review addresses the fields of application of Y chromosome haplotyping, the interpretation of results, databasing efforts and population genetics aspects.

Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats

NARCIS (Netherlands)

K. Ballantyne (Kaye); A. Ralf (Arwin); R. Aboukhalid (Rachid); N.M. Achakzai (Niaz); T. Anjos (Tania); Q. Ayub (Qasim); J. Balažic (Jože); J. Ballantyne (Jack); D.J. Ballard (David); B. Berger (Burkhard); C. Bobillo (Cecilia); M. Bouabdellah (Mehdi); H. Burri (Helen); T. Capal (Tomas); S. Caratti (Stefano); J. Cárdenas (Jorge); F. Cartault (François); E.F. Carvalho (Elizeu); M. de Carvalho (Margarete); B. Cheng (Baowen); M.D. Coble (Michael); D. Comas (David); D. Corach (Daniel); M. D'Amato (Mauro); S. Davison (Sean); P. de Knijff (Peter); M.C.A. de Ungria (Maria Corazon); R. Decorte (Ronny); T. Dobosz (Tadeusz); B.M. Dupuy (Berit); S. Elmrghni (Samir); M. Gliwiński (Mateusz); S.C. Gomes (Sara); L. Grol (Laurens); C. Haas (Cordula); E. Hanson (Erin); J. Henke (Jürgen); L. Henke (Lotte); F. Herrera-Rodríguez (Fabiola); C.R. Hill (Carolyn); G. Holmlund (Gunilla); K. Honda (Katsuya); U.-D. Immel (Uta-Dorothee); S. Inokuchi (Shota); R. Jobling; M. Kaddura (Mahmoud); J.S. Kim (Jong); S.H. Kim (Soon); W. Kim (Wook); T.E. King (Turi); E. Klausriegler (Eva); D. Kling (Daniel); L. Kovačević (Lejla); L. Kovatsi (Leda); P. Krajewski (Paweł); S. Kravchenko (Sergey); M.H.D. Larmuseau (Maarten); E.Y. Lee (Eun Young); R. Lessig (Rüdiger); L.A. Livshits (Ludmila); D. Marjanović (Damir); M. Minarik (Marek); N. Mizuno (Natsuko); H. Moreira (Helena); N. Morling (Niels); M. Mukherjee (Meeta); P. Munier (Patrick); J. Nagaraju (Javaregowda); F. Neuhuber (Franz); S. Nie (Shengjie); P. Nilasitsataporn (Premlaphat); T. Nishi (Takeki); H.H. Oh (Hye); S. Olofsson (Sylvia); V. Onofri (Valerio); J. Palo (Jukka); H. Pamjav (Horolma); W. Parson (Walther); M. Petlach (Michal); C. Phillips (Christopher); R. Ploski (Rafal); S.P.R. Prasad (Samayamantri P.); D. Primorac (Dragan); G.A. Purnomo (Gludhug); J. Purps (Josephine); H. Rangel-Villalobos (Hector); K. Reogonekbała (Krzysztof); B. Rerkamnuaychoke (Budsaba); D.R. Gonzalez (Danel Rey); C. Robino (Carlo); L. Roewer (Lutz); A. de Rosa (Anna); A. Sajantila (Antti); A. Sala (Andrea); J.M. Salvador (Jazelyn); P. Sanz (Paula); C. Schmitt (Christian); A.K. Sharma (Anisha K.); D.A. Silva (Dayse); K.-J. Shin (Kyoung-Jin); T. Sijen (Titia); M. Sirker (Miriam); D. Siváková (Daniela); V. Škaro (Vedrana); C. Solano-Matamoros (Carlos); L. Souto (L.); V. Stenzl (Vlastimil); H. Sudoyo (Herawati); D. Syndercombe-Court (Denise); A. Tagliabracci (Adriano); D. Taylor (Duncan); A. Tillmar (Andreas); I.S. Tsybovsky (Iosif); C. Tyler-Smith (Chris); K. van der Gaag (Kristiaan); D. Vanek (Daniel); A. Völgyi (Antónia); D. Ward (Denise); P. Willemse (Patricia); E.P.H. Yap (Eric); Z-Y. Yong (Ze-Yie); I.Z. Pajnič (Irena Zupanič); M.H. Kayser (Manfred)

2014-01-01

textabstractRelevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are commonly used for testing close paternal relationships among individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve

Sex Chromosome Evolution, Heterochiasmy, and Physiological QTL in the Salmonid Brook Charr Salvelinus fontinalis

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Ben J.G. Sutherland

2017-08-01

Full Text Available Whole-genome duplication (WGD can have large impacts on genome evolution, and much remains unknown about these impacts. This includes the mechanisms of coping with a duplicated sex determination system and whether this has an impact on increasing the diversity of sex determination mechanisms. Other impacts include sexual conflict, where alleles having different optimums in each sex can result in sequestration of genes into nonrecombining sex chromosomes. Sex chromosome development itself may involve sex-specific recombination rate (i.e., heterochiasmy, which is also poorly understood. The family Salmonidae is a model system for these phenomena, having undergone autotetraploidization and subsequent rediploidization in most of the genome at the base of the lineage. The salmonid master sex determining gene is known, and many species have nonhomologous sex chromosomes, putatively due to transposition of this gene. In this study, we identify the sex chromosome of Brook Charr Salvelinus fontinalis and compare sex chromosome identities across the lineage (eight species and four genera. Although nonhomology is frequent, homologous sex chromosomes and other consistencies are present in distantly related species, indicating probable convergence on specific sex and neo-sex chromosomes. We also characterize strong heterochiasmy with 2.7-fold more crossovers in maternal than paternal haplotypes with paternal crossovers biased to chromosome ends. When considering only rediploidized chromosomes, the overall heterochiasmy trend remains, although with only 1.9-fold more recombination in the female than the male. Y chromosome crossovers are restricted to a single end of the chromosome, and this chromosome contains a large interspecific inversion, although its status between males and females remains unknown. Finally, we identify quantitative trait loci (QTL for 21 unique growth, reproductive, and stress-related phenotypes to improve knowledge of the genetic

Paternalism and Antipaternalism

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Mauro Cardoso Simões

2011-12-01

Full Text Available http://dx.doi.org/10.5007/1677-2954.2011v10n1p165 This paper aims to examine the relation between paternalism and antipaternalism. The original intention is disable the arguments seeking to justify acceptance on the part of Mill of moral and legal paternalism. The work will also investigate the concern milleans with the concepts of autonomy and self-development, positioning itself for a reading of Mill as a thinker who advocates a weak version of paternalism. This research suggests, moreover, the communication with the interpreters of contemporary Mill, which will assess the impact of their ideas on the current dialogue on the liberty and paternalism.

Fatal outcome after reactivation of inherited chromosomally integrated HHV-6A (iciHHV-6A) transmitted through liver transplantation.

Science.gov (United States)

Bonnafous, P; Marlet, J; Bouvet, D; Salamé, E; Tellier, A-C; Guyetant, S; Goudeau, A; Agut, H; Gautheret-Dejean, A; Gaudy-Graffin, C

2018-06-01

HHV-6A and HHV-6B are found as inherited and chromosomally integrated forms (iciHHV-6A and -6B) into all germinal and somatic cells and vertically transmitted in a Mendelian manner in about 1% of the population. They were occasionally shown to be horizontally transmitted through hematopoietic stem cell transplantation. Here, we present a clinical case of horizontal transmission of iciHHV-6A from donor to recipient through liver transplantation. Molecular analysis performed on three viral genes (7.2 kb) in the recipient and donor samples supports transmission of iciHHV-6A from the graft. Transmission was followed by reactivation, with high viral loads in several compartments. The infection was uncontrollable, leading to severe disease and death, despite antiviral treatments and the absence of resistance mutations. This case highlights the fact that physicians should be aware of the possible horizontal transmission of iciHHV-6 and its consequences in case of reactivation in immunocompromised patients. © 2018 The American Society of Transplantation and the American Society of Transplant Surgeons.

Sex allocation in a species with paternal genome elimination : The roles of crowding and female age in the mealybug Planococcus citri

NARCIS (Netherlands)

Ross, Laura; Langenhof, Minke B. W.; Pen, Ido; Beukeboom, Leo W.; West, Stuart A.; Shuker, David M.

Background: In species with paternal genome elimination, both sexes are diploid. However, in males the chromosomes inherited from the father are deactivated during early development and eliminated from the germ line. Sex allocation theory predicts that, all else being equal, females should bias

Effects of a Paternal Participation Program during Cesarean Section on Paternal Infant Attachment

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Hyun Kyoung Kim

2013-06-01

Full Text Available PurposeIn this study effects of a paternal participation program during cesarean section on paternal infant attachment were investigate. The experimental treatment was an integrative nursing intervention to promote father to infant attachment.MethodsStudy design was a non-equivalent control group posttest design. The program consisted of emotional support to spouse and father towards infant attachment immediately following cesarean birth. Participants were 66 men, partners of women with normal full term pregnancy having a cesarean section with spinal or epidural anesthesia, (experimental group, 34; control group, 32. The experiment was carried out from August 1 to October 30, 2010. Control group data were obtained from May 1 to June 30, 2012. Posttest was performed 72 hours after cesarean birth. A self-report questionnaire including a paternal attachment instrument was used. Data were analyzed using t-test, propensity score matching, and analysis of covariance with the SPSS/WIN 18.0 program.ResultsTotal score for paternal infant attachment in the experimental group was significantly higher than the control group (p<.001. After matching, significant differences were found between the two groups through all subcategories. Adjusted mean score for paternal infant attachment verified experimental effects.ConclusionResults indicate that this paternal participation program during cesarean section is effective in improving paternal infant attachment.

DNMT3L is a regulator of X chromosome compaction and post-meiotic gene transcription.

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Natasha M Zamudio

Full Text Available Previous studies on the epigenetic regulator DNA methyltransferase 3-Like (DNMT3L, have demonstrated it is an essential regulator of paternal imprinting and early male meiosis. Dnmt3L is also a paternal effect gene, i.e., wild type offspring of heterozygous mutant sires display abnormal phenotypes suggesting the inheritance of aberrant epigenetic marks on the paternal chromosomes. In order to reveal the mechanisms underlying these paternal effects, we have assessed X chromosome meiotic compaction, XY chromosome aneuploidy rates and global transcription in meiotic and haploid germ cells from male mice heterozygous for Dnmt3L. XY bodies from Dnmt3L heterozygous males were significantly longer than those from wild types, and were associated with a three-fold increase in XY bearing sperm. Loss of a Dnmt3L allele resulted in deregulated expression of a large number of both X-linked and autosomal genes within meiotic cells, but more prominently in haploid germ cells. Data demonstrate that similar to embryonic stem cells, DNMT3L is involved in an auto-regulatory loop in germ cells wherein the loss of a Dnmt3L allele resulted in increased transcription from the remaining wild type allele. In contrast, however, within round spermatids, this auto-regulatory loop incorporated the alternative non-coding alternative transcripts. Consistent with the mRNA data, we have localized DNMT3L within spermatids and sperm and shown that the loss of a Dnmt3L allele results in a decreased DNMT3L content within sperm. These data demonstrate previously unrecognised roles for DNMT3L in late meiosis and in the transcriptional regulation of meiotic and post-meiotic germ cells. These data provide a potential mechanism for some cases of human Klinefelter's and Turner's syndromes.

Intergenerational Transmission of Maternal and Paternal Parenting Beliefs: The Moderating Role of Interaction Qualit

OpenAIRE

Erzinger Andrea B.; Steiger Andrea E.

2014-01-01

The finding that values, attitudes, and behaviour can be transmitted across generations is long standing. However, the role of fathers in this process has been underinvestigated. Furthermore, many researchers have not tested moderation effects. We extended the literature by investigating maternal and paternal transmission of harsh parenting beliefs to their children 23 years later. Furthermore, we examined the moderating role of interaction quality and included gender and socioeconomic status...

Y-chromosomal variation of local goat breeds of Turkey close to the domestication centre

NARCIS (Netherlands)

Cinar Kul, B; Bilgen, N; Lenstra, J A|info:eu-repo/dai/nl/067852335; Korkmaz Agaoglu, O; Akyuz, B; Ertugrul, O

2015-01-01

Genetic variations in chromosome Y are enabling researchers to identify paternal lineages, which are informative for introgressions and migrations. In this study, the male-specific region markers, sex-determining region-Y (SRY), amelogenin (AMELY) and zinc finger (ZFY) were analysed in seven Turkish

[Forensic hematology genetics--paternity testing].

Science.gov (United States)

Kratzer, A; Bär, W

1997-05-01

In Switzerland paternity investigations are carried out using DNA analysis only since 1991. DNA patterns are inherited and only with the exception of genetically identical twins they are different in everyone and therefore unique to an individual. Hence DNA-systems are an excellent tool to resolve paternity disputes. DNA polymorphisms used for paternity diagnosis are length polymorphisms of the highly polymorphic VNTR loci [variable number of tandem repeats]. The most frequently applied systems are the DNA single locus systems. In addition to the DNA single locus systems the application of PCR (PCR = polymerase chain reaction) based DNA systems has increased particularly in difficult deficiency cases or in cases where only small evidential samples or partially degraded DNA are available. Normally four independent DNA single probes are used to produce a DNA profile from the mother, the child and the alleged father. A child inherits half the DNA patterns from its mother and the other half from its true biological father. If an alleged father doesn't possess the paternal specific DNA pattern in his DNA profile he is excluded from the paternity. In case of non-exclusion the probability for paternity is calculated according to Essen-Möller. When applying four highly polymorphic DNA single locus systems the biostatistical evaluation leads always to W-values exceeding 99.8% [= required value for positive proof of paternity]. DNA analysis is currently the best available method to achieve such effective conclusions in paternity investigations.

Transgenerational propagation and quantitative maintenance of paternal centromeres depends on Cid/Cenp-A presence in Drosophila sperm.

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Nitika Raychaudhuri

Full Text Available In Drosophila melanogaster, as in many animal and plant species, centromere identity is specified epigenetically. In proliferating cells, a centromere-specific histone H3 variant (CenH3, named Cid in Drosophila and Cenp-A in humans, is a crucial component of the epigenetic centromere mark. Hence, maintenance of the amount and chromosomal location of CenH3 during mitotic proliferation is important. Interestingly, CenH3 may have different roles during meiosis and the onset of embryogenesis. In gametes of Caenorhabditis elegans, and possibly in plants, centromere marking is independent of CenH3. Moreover, male gamete differentiation in animals often includes global nucleosome for protamine exchange that potentially could remove CenH3 nucleosomes. Here we demonstrate that the control of Cid loading during male meiosis is distinct from the regulation observed during the mitotic cycles of early embryogenesis. But Cid is present in mature sperm. After strong Cid depletion in sperm, paternal centromeres fail to integrate into the gonomeric spindle of the first mitosis, resulting in gynogenetic haploid embryos. Furthermore, after moderate depletion, paternal centromeres are unable to re-acquire normal Cid levels in the next generation. We conclude that Cid in sperm is an essential component of the epigenetic centromere mark on paternal chromosomes and it exerts quantitative control over centromeric Cid levels throughout development. Hence, the amount of Cid that is loaded during each cell cycle appears to be determined primarily by the preexisting centromeric Cid, with little flexibility for compensation of accidental losses.

Certainty of paternity and paternal investment in eastern bluebirds and tree swallows

Science.gov (United States)

Kempenaers, Bart; Lanctot, Richard B.; Robertson, Raleigh J.

1998-01-01

Extra-pair paternity is common in many socially monogamous passerine birds with biparental care. Thus, males often invest in offspring to which they are not related. Models of optimal parental investment predict that, under certain assumptions, males should lower their investment in response to reduced certainty of paternity. We attempted to reduce certainty of paternity experimentally in two species, the eastern bluebird, Sialia sialis, and the tree swallow, Tachycineta bicolor, by temporarily removing fertile females on two mornings during egg laying. In both species, experimental males usually attempted to copulate with the female immediately after her reappearance, suggesting that they experienced the absence of their mate as a threat to their paternity. Experimental males copulated at a significantly higher rate than control males. However, contrary to the prediction of the model, experimental males did not invest less than control males in their offspring. There was no difference between experimental and control nests in the proportion of male feeds, male and female feeding rates, nestling growth and nestling condition and size at age 14 days. We argue that females might have restored the males’ confidence in paternity after the experiment by soliciting or accepting copulations. Alternatively, males may not reduce their effort, because the fitness costs to their own offspring may outweigh the benefits for the males, at least in populations where females cannot fully compensate for reduced male investment.

[Influence of paternal age in schizophrenia].

Science.gov (United States)

Hubert, A; Szöke, A; Leboyer, M; Schürhoff, F

2011-06-01

Schizophrenia is an aetiologically heterogeneous syndrome, with a strong genetic component. Despite a reduced fertility in this disorder, its prevalence is maintained and could be explained by de novo genetic mutations. Advanced paternal age (APA) is a major source of new mutations in human beings and could thus be associated with an increased risk of developing schizophrenia in offspring. New mutations related to APA have been implicated as a cause of sporadic cases in several autosomal dominant diseases and also in neurodevelopmental diseases, autism, intellectual disabilities, and social functioning. The aim of the present study was to summarize the results of studies investigating the role of APA, and to discuss some interpretations. All relevant studies were identified through the National Library of Medicine (PubMed(®) database). Keywords used for research were "age" and "schizophrenia" linked to "paternal or father". We have identified and analysed eight cohort studies, five case-control studies, two meta-analyses, and one review concerning different father's mutations potentially transmitted, two studies comparing paternal age at conception between sporadic versus familial cases of schizophrenia. All studies selected have been published between 2000 and 2009. After controlling for several confounding factors including maternal age, the relative risk of schizophrenia increased from 1.84 to 4.62 in offspring of fathers with an older age of fatherhood. Mother's age showed no significant effects after adjusting for paternal age. There was a significant association between paternal age and risk of developing schizophrenia, there was a weaker association with psychosis. The results of these different studies are confirmed by two recent meta-analyses which found an increased risk of schizophrenia in offspring of fathers older than 35 years. Two main hypotheses could explain these results. The first one is based on the presence of new mutations in the

Studies on chromosomal aberrations and dominant lethal mutations induced by x irradiation in germ cells of male mice

International Nuclear Information System (INIS)

Wang Xianli; Wang Mingdong; Wang Bin; Sun Shuqing

1992-01-01

After male mice irradiated by 2 Gy X rays mated to normal virginal females superovulated with PMSG and HCG, pronuclei chromosome spreading of first-cleavage embryos were prepared and chromosomal aberrations of paternal pronuclei were observed. The results showed that the frequency of chromosomal aberrations was highest irradiated at spermatic stage among different stages of spermatogenesis. The sequence of radiosensitivity in spermatogenesis was as follows: spermatids > mature sperm > spermatocyte > spermatogonia and stem spermatogonia. The frequencies of paternal chromosomal aberrations resulted from irradiation at spermatids and mature sperms were significantly higher than that in control. The reciprocal translocations of stem spermatogonia induced by 2 Gy X rays in those male mice were also examined in the preparations of diakinesis-metaphase I. The frequency of reciprocal translocations were 0.0429 per cell and significantly higher than that in control. The proportion of unbalanced gametes, resulting in lethal embryos after fertilization, was 0.02145 to be predicted. At the same time, the dominant lethality induced by X rays in stem spermatogonia was measured, being 0.0371. The frequency of dead fetuses in irradiation group was about twice as in control. The regression analysis was found that the reciprocal translocations was markedly related to the dominant lethality

The effect of paternal age on offspring intelligence and personality when controlling for paternal trait level.

Directory of Open Access Journals (Sweden)

Ruben C Arslan

Full Text Available Paternal age at conception has been found to predict the number of new genetic mutations. We examined the effect of father's age at birth on offspring intelligence, head circumference and personality traits. Using the Minnesota Twin Family Study sample we tested paternal age effects while controlling for parents' trait levels measured with the same precision as offspring's. From evolutionary genetic considerations we predicted a negative effect of paternal age on offspring intelligence, but not on other traits. Controlling for parental intelligence (IQ had the effect of turning an initially positive association non-significantly negative. We found paternal age effects on offspring IQ and Multidimensional Personality Questionnaire Absorption, but they were not robustly significant, nor replicable with additional covariates. No other noteworthy effects were found. Parents' intelligence and personality correlated with their ages at twin birth, which may have obscured a small negative effect of advanced paternal age (<1% of variance explained on intelligence. We discuss future avenues for studies of paternal age effects and suggest that stronger research designs are needed to rule out confounding factors involving birth order and the Flynn effect.

Sperm competition games when males invest in paternal care.

Science.gov (United States)

Requena, Gustavo S; Alonzo, Suzanne H

2017-08-16

Sperm competition games investigate how males partition limited resources between pre- and post-copulatory competition. Although extensive research has explored how various aspects of mating systems affect this allocation, male allocation between mating, fertilization and parental effort has not previously been considered. Yet, paternal care can be energetically expensive and males are generally predicted to adjust their parental effort in response to expected paternity. Here, we incorporate parental effort into sperm competition games, particularly exploring how the relationship between paternal care and offspring survival affects sperm competition and the relationship between paternity and paternal care. Our results support existing expectations that (i) fertilization effort should increase with female promiscuity and (ii) paternal care should increase with expected paternity. However, our analyses also reveal that the cost of male care can drive the strength of these patterns. When paternal behaviour is energetically costly, increased allocation to parental effort constrains allocation to fertilization effort. As paternal care becomes less costly, the association between paternity and paternal care weakens and may even be absent. By explicitly considering variation in sperm competition and the cost of male care, our model provides an integrative framework for predicting the interaction between paternal care and patterns of paternity. © 2017 The Author(s).

The effect of paternal age on offspring intelligence and personality when controlling for paternal trait level.

Science.gov (United States)

Arslan, Ruben C; Penke, Lars; Johnson, Wendy; Iacono, William G; McGue, Matt

2014-01-01

Paternal age at conception has been found to predict the number of new genetic mutations. We examined the effect of father's age at birth on offspring intelligence, head circumference and personality traits. Using the Minnesota Twin Family Study sample we tested paternal age effects while controlling for parents' trait levels measured with the same precision as offspring's. From evolutionary genetic considerations we predicted a negative effect of paternal age on offspring intelligence, but not on other traits. Controlling for parental intelligence (IQ) had the effect of turning an initially positive association non-significantly negative. We found paternal age effects on offspring IQ and Multidimensional Personality Questionnaire Absorption, but they were not robustly significant, nor replicable with additional covariates. No other noteworthy effects were found. Parents' intelligence and personality correlated with their ages at twin birth, which may have obscured a small negative effect of advanced paternal age (birth order and the Flynn effect.

Chromosomal translocation in a mongoloid male child and his normal mother

Directory of Open Access Journals (Sweden)

Willy Beçak

1963-09-01

Full Text Available The presence of a translocation 21/13-15 is related in 46 chromosomes, karyotypes of a mongoloid male child (Down's syndrome. The abnormal chromosome was transmitted by the mother of the patient. The possible deficiency of translocated chromosome 21 and the possible origin of the anomaly in the family was discussed and the presence of a markedly large Y chromosome in the karyotypes of the patient as in those of his father was also noted.

Brown and polar bear Y chromosomes reveal extensive male-biased gene flow within brother lineages.

Science.gov (United States)

Bidon, Tobias; Janke, Axel; Fain, Steven R; Eiken, Hans Geir; Hagen, Snorre B; Saarma, Urmas; Hallström, Björn M; Lecomte, Nicolas; Hailer, Frank

2014-06-01

Brown and polar bears have become prominent examples in phylogeography, but previous phylogeographic studies relied largely on maternally inherited mitochondrial DNA (mtDNA) or were geographically restricted. The male-specific Y chromosome, a natural counterpart to mtDNA, has remained underexplored. Although this paternally inherited chromosome is indispensable for comprehensive analyses of phylogeographic patterns, technical difficulties and low variability have hampered its application in most mammals. We developed 13 novel Y-chromosomal sequence and microsatellite markers from the polar bear genome and screened these in a broad geographic sample of 130 brown and polar bears. We also analyzed a 390-kb-long Y-chromosomal scaffold using sequencing data from published male ursine genomes. Y chromosome evidence support the emerging understanding that brown and polar bears started to diverge no later than the Middle Pleistocene. Contrary to mtDNA patterns, we found 1) brown and polar bears to be reciprocally monophyletic sister (or rather brother) lineages, without signals of introgression, 2) male-biased gene flow across continents and on phylogeographic time scales, and 3) male dispersal that links the Alaskan ABC islands population to mainland brown bears. Due to female philopatry, mtDNA provides a highly structured estimate of population differentiation, while male-biased gene flow is a homogenizing force for nuclear genetic variation. Our findings highlight the importance of analyzing both maternally and paternally inherited loci for a comprehensive view of phylogeographic history, and that mtDNA-based phylogeographic studies of many mammals should be reevaluated. Recent advances in sequencing technology render the analysis of Y-chromosomal variation feasible, even in nonmodel organisms. © The Author 2014. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. All rights reserved. For permissions, please e

Clinical, cytogenetic and molecular investigation in a fetus with Wolf-Hirschhorn syndrome with paternally derived 4p deletion. Case report and review of the literature.

Science.gov (United States)

Dietze, Ilona; Fritz, Barbara; Huhle, Dagmar; Simoens, Wouter; Piecha, Ernestine; Rehder, Helga

2004-01-01

Wolf-Hirschhorn (4p-) syndrome (WHS), caused by partial deletion of the short arm of chromosome 4, has been extensively described in children and young adults. Knowledge on fetuses with WHS is still limited due to the small number of published cases. We report on a fetus with prenatally diagnosed severe intrauterine growth retardation, reduced thoracal diameter, clubfeet deformity and midface hypoplasia including slight microretrognathia indicative for fetal karyotyping. Chromosome analysis after amniocentesis revealed a de novo terminal deletion of chromosome 4p [karyotype: 46,XX,del(4) (p16)] which was confirmed by FISH. Analyses of a set of polymorphic markers mapping in 4pter->4p15.3 showed absence of paternal haplotypes. These observations corroborate the preferential paternal origin of the de novo 4p deletion in WHS patients. Furthermore, the distal breakpoint could be narrowed to band 4p16.1. At autopsy, the fetus showed typical craniofacial dysmorphic signs of WHS, severe IUGR and delayed bone age. This report suggests the possibility of recognising the particular phenotype of WHS in utero by prenatal ultrasound and emphasises the importance of karyotyping fetuses with severe IUGR, especially when the amount of amniotic fluid is normal. Copyright 2004 S. Karger AG, Basel

The effect of paternal age on offspring intelligence and personality when controlling for paternal trait level

OpenAIRE

Arslan, Ruben C.; Penke, Lars; Johnson, Wendy; Iacono, William G.; McGue, Matt

2013-01-01

Paternal age at conception has been found to predict the number of new genetic mutations. We examined the effect of father’s age at birth on offspring intelligence, head circumference and personality traits. Using the Minnesota Twin Family Study sample we tested paternal age effects while controlling for parents’ trait levels measured with the same precision as offspring’s. From evolutionary genetic considerations we predicted a negative effect of paternal age on offspring intelligence, but n...

Paternal and maternal factors in preimplantation embryogenesis: interaction with the biochemical environment.

Science.gov (United States)

Ménézo, Yves J R

2006-05-01

Paternal effect on embryonic development occurs as early as fertilization. Incorrect formation of the spermatozoon due to centrosome defects and abnormal concentrations of any components involved in the activation process lead to failure immediately or in the subsequent cell cycles. Sperm chromosomal abnormalities result in early embryo developmental arrests. Generally poor spermatozoa lead to poor blastocyst formation. Sperm DNA fragmentation may impair even late post-implantation development. The DNA repair capacity of the oocytes is of major importance. Early preimplantation development, i.e. until maternal to zygotic transition, is maternally driven. Maternal mRNAs and proteins are of major importance, as there is an unavoidable turnover of these reserves. Polyadenylation of these mRNAs is precisely controlled, in order to avoid too early or too late transcription and translation of the housekeeping genes. An important set of maternal regulations, such as DNA stability, transcriptional regulation and protection against oxidative stress, are impaired by age. The embryo biochemical endogenous pool is very important and may depend upon the environment, i.e. the culture medium. Paternal, maternal and environmental factors are unavoidable parameters; they become evident when age impairs oocyte quality.

Influence of paternal age on perinatal outcomes.

Science.gov (United States)

Hurley, Emily G; DeFranco, Emily A

2017-11-01

There is an increasing trend to delay childbearing to advanced parental age. Increased risks of advanced maternal age and assisted reproductive technologies are widely accepted. There are limited data regarding advanced paternal age. To adequately counsel patients on risk, more research regarding advanced paternal age is necessary. We sought to determine the influence of paternal age on perinatal outcomes, and to assess whether this influence differs between pregnancies achieved spontaneously and those achieved with assisted reproductive technology. A population-based retrospective cohort study of all live births in Ohio from 2006 through 2012 was completed. Data were evaluated to determine if advanced paternal age is associated with an increased risk of adverse outcomes in pregnancies. The analysis was stratified by status of utilization of assisted reproductive technology. Generalized linear regression models assessed the association of paternal age on pregnancy complications in assisted reproductive technology and spontaneously conceived pregnancies, after adjusting for maternal age, race, multifetal gestation, and Medicaid status, using Stata software (Stata, Release 12; StataCorp, College Station, TX). Paternal age was documented in 82.2% of 1,034,552 live births in Ohio during the 7-year study period. Paternal age ranged from 12-87 years, with a median of 30 (interquartile range, 26-35) years. Maternal age ranged from 11-62 years, with a median of 27 (interquartile range, 22-31) years. The use of assisted reproductive technology in live births increased as paternal age increased: 0.1% 60 years, P risk factors, increased paternal age was not associated with a significant increase in the rate of preeclampsia, preterm birth, fetal growth restriction, congenital anomaly, genetic disorder, or neonatal intensive care unit admission. The influence of paternal age on pregnancy outcomes was similar in pregnancies achieved with and without assisted reproductive

Finding the founder of Stockholm - A kinship study based on Y-chromosomal, autosomal and mitochondrial DNA

DEFF Research Database (Denmark)

Malmström, Helena; Vretemark, Maria; Tillmar, Andreas

2012-01-01

-chromosomal and autosomal SNPs and compared the results with haplogroup frequencies of modern Swedes to investigate paternal relations. Possible maternal kinship was investigated by deep FLX-sequencing of overlapping mtDNA amplicons. The authenticity of the sequences was examined using data from independent extractions......, massive clonal data, the c-statistics, and real-time quantitative data. We show that the males carry the same Y-chromosomal haplogroup and thus we cannot reject a father-son type of relation. Further, as shown by the mtDNA analyses, none of the individuals are maternally related. We conclude...

Contemporary paternal genetic landscape of Polish and German populations: from early medieval Slavic expansion to post-World War II resettlements.

Science.gov (United States)

Rębała, Krzysztof; Martínez-Cruz, Begoña; Tönjes, Anke; Kovacs, Peter; Stumvoll, Michael; Lindner, Iris; Büttner, Andreas; Wichmann, H-Erich; Siváková, Daniela; Soták, Miroslav; Quintana-Murci, Lluís; Szczerkowska, Zofia; Comas, David

2013-04-01

Homogeneous Proto-Slavic genetic substrate and/or extensive mixing after World War II were suggested to explain homogeneity of contemporary Polish paternal lineages. Alternatively, Polish local populations might have displayed pre-war genetic heterogeneity owing to genetic drift and/or gene flow with neighbouring populations. Although sharp genetic discontinuity along the political border between Poland and Germany indisputably results from war-mediated resettlements and homogenisation, it remained unknown whether Y-chromosomal diversity in ethnically/linguistically defined populations was clinal or discontinuous before the war. In order to answer these questions and elucidate early Slavic migrations, 1156 individuals from several Slavic and German populations were analysed, including Polish pre-war regional populations and an autochthonous Slavic population from Germany. Y chromosomes were assigned to 39 haplogroups and genotyped for 19 STRs. Genetic distances revealed similar degree of differentiation of Slavic-speaking pre-war populations from German populations irrespective of duration and intensity of contacts with German speakers. Admixture estimates showed minor Slavic paternal ancestry (~20%) in modern eastern Germans and hardly detectable German paternal ancestry in Slavs neighbouring German populations for centuries. BATWING analysis of isolated Slavic populations revealed that their divergence was preceded by rapid demographic growth, undermining theory that Slavic expansion was primarily linguistic rather than population spread. Polish pre-war regional populations showed within-group heterogeneity and lower STR variation within R-M17 subclades compared with modern populations, which might have been homogenised by war resettlements. Our results suggest that genetic studies on early human history in the Vistula and Oder basins should rely on reconstructed pre-war rather than modern populations.

Turkish Cypriot paternal lineages bear an autochthonous character and closest resemblance to those from neighbouring Near Eastern populations.

Science.gov (United States)

Gurkan, Cemal; Sevay, Huseyin; Demirdov, Damla Kanliada; Hossoz, Sinem; Ceker, Deren; Teralı, Kerem; Erol, Ayla Sevim

2017-03-01

Cyprus is an island in the Eastern Mediterranean Sea with a documented history of human settlements dating back over 10,000 years. To investigate the paternal lineages of a representative population from Cyprus in the context of the larger Near Eastern/Southeastern European genetic landscape. Three hundred and eighty samples from the second most populous ethnic group in Cyprus (Turkish Cypriots) were analysed at 17 Y-chromosomal short tandem repeat (Y-STR) loci. A haplotype diversity of 0.9991 was observed, along with a number of allelic variants, multi-allelic patterns and a most frequent haplotype that have not previously been reported elsewhere. Pairwise genetic distance comparisons of the Turkish Cypriot Y-STR dataset and Y-chromosomal haplogroup distribution with those from Near East/Southeastern Europe both suggested a closer genetic connection with the Near Eastern populations. Median-joining network analyses of the most frequent haplogroups also revealed some evidence towards in situ radiation. Turkish Cypriot paternal lineages seem to bear an autochthonous character and closest genetic connection with the neighbouring Near Eastern populations. These observations are further underscored by the fact that the haplogroups associated with the spread of Neolithic Agricultural Revolution from the Fertile Crescent (E1b1b/J1/J2/G2a) dominate (>70%) the Turkish Cypriot haplogroup distribution.

Analysis of the origin of the extra chromosome in trisomy 8 in 4 cases of spontaneous abortions.

Science.gov (United States)

Nicolaidis, P; von Beust, G; Bugge, M; Karadima, G; Vassilopoulos, D; Brøndum-Nielsen, K; Petersen, M B

1998-01-01

To determine the origin of the extra chromosome in trisomy 8 in spontaneous abortions. We analyzed 4 cases of nonmosaic trisomy 8 in 1st-trimester spontaneous abortions and their parents with DNA polymorphism analysis using microsatellite DNA markers. In 3 cases the extra chromosome was maternal in origin and in 1 case paternal in origin. In 2 of the cases the nondisjunction had occurred in maternal meiosis, while the other 2 cases were consistent with a postzygotic (mitotic) origin of the additional chromosome. Although a small number of cases studied, these results suggest differences from the common autosomal trisomies 21, 18, 16, and 13 where the vast majority of cases are due to errors in maternal meiosis.

Exceptional Complex Chromosomal Rearrangements in Three Generations

Directory of Open Access Journals (Sweden)

Hannie Kartapradja

2015-01-01

Full Text Available We report an exceptional complex chromosomal rearrangement (CCR found in three individuals in a family that involves 4 chromosomes with 5 breakpoints. The CCR was ascertained in a phenotypically abnormal newborn with additional chromosomal material on the short arm of chromosome 4. Maternal karyotyping indicated that the mother carried an apparently balanced CCR involving chromosomes 4, 6, 11, and 18. Maternal transmission of the derivative chromosome 4 resulted in partial trisomy for chromosomes 6q and 18q and a partial monosomy of chromosome 4p in the proband. Further family studies found that the maternal grandmother carried the same apparently balanced CCR as the proband’s mother, which was confirmed using the whole chromosome painting (WCP FISH. High resolution whole genome microarray analysis of DNA from the proband’s mother found no evidence for copy number imbalance in the vicinity of the CCR translocation breakpoints, or elsewhere in the genome, providing evidence that the mother’s and grandmother’s CCRs were balanced at a molecular level. This structural rearrangement can be categorized as an exceptional CCR due to its complexity and is a rare example of an exceptional CCR being transmitted in balanced and/or unbalanced form across three generations.

The impact of mating systems and dispersal on fine-scale genetic structure at maternally, paternally and biparentally inherited markers.

Science.gov (United States)

Shaw, Robyn E; Banks, Sam C; Peakall, Rod

2018-01-01

For decades, studies have focused on how dispersal and mating systems influence genetic structure across populations or social groups. However, we still lack a thorough understanding of how these processes and their interaction shape spatial genetic patterns over a finer scale (tens-hundreds of metres). Using uniparentally inherited markers may help answer these questions, yet their potential has not been fully explored. Here, we use individual-level simulations to investigate the effects of dispersal and mating system on fine-scale genetic structure at autosomal, mitochondrial and Y chromosome markers. Using genetic spatial autocorrelation analysis, we found that dispersal was the major driver of fine-scale genetic structure across maternally, paternally and biparentally inherited markers. However, when dispersal was restricted (mean distance = 100 m), variation in mating behaviour created strong differences in the comparative level of structure detected at maternally and paternally inherited markers. Promiscuity reduced spatial genetic structure at Y chromosome loci (relative to monogamy), whereas structure increased under polygyny. In contrast, mitochondrial and autosomal markers were robust to differences in the specific mating system, although genetic structure increased across all markers when reproductive success was skewed towards fewer individuals. Comparing males and females at Y chromosome vs. mitochondrial markers, respectively, revealed that some mating systems can generate similar patterns to those expected under sex-biased dispersal. This demonstrates the need for caution when inferring ecological and behavioural processes from genetic results. Comparing patterns between the sexes, across a range of marker types, may help us tease apart the processes shaping fine-scale genetic structure. © 2017 John Wiley & Sons Ltd.

Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomalies.

Science.gov (United States)

Balci, Sevim; Engiz, Ozlem; Aktaş, Dilek; Vargel, Ibrahim; Beksaç, M S; Mrasek, Kristin; Vermeesch, Joris; Liehr, Thomas

2006-03-15

We report on a 16-month-old male patient with ring chromosome 4 and deletion of Wolf-Hirschhorn syndrome (WHS) region with multiple congenital anomalies including unilateral cleft lip and palate, iris coloboma, microcephaly, midgut malrotation, hypospadias, and double urethral orifices. Peripheral chromosome analysis of the patient showed 46,XY,r(4)(p16.3q35) de novo. Multicolor fluorescence in situ hybridization (FISH) study was also performed and according to multicolor banding (MCB) a r(4)(::p16.3 --> q34.3 approximately 35.1::) was found in all metaphases. Subtelomeric 4p region, subtelomeric 4q region, as well as, Wolf-Hirschhorn critical region were deleted in ring chromosome 4. Genomic microarray analysis was also performed to delineate the size of deletion. Cranial magnetic resonance imaging (MRI) showed hypoplastic corpus callosum, delayed myelinization, and frontal and occipital lobe atrophies. Both maternal and paternal chromosomal analyses were normal. We compare the phenotypic appearance of our patient with the previously reported 16 cases of ring chromosome 4 in the medical literature. 2006 Wiley-Liss, Inc.

Paternity leave experiences of NHS doctors.

Science.gov (United States)

Gordon, Hannah; Szram, Joanna

2013-10-01

This study assesses NHS doctors' experiences of paternity leave and evaluates whether practices have changed since the introduction of additional paternity leave (APL) in April 2011. An anonymised online survey designed to discover experiences and uptake of APL and ordinary paternity leave (OPL) was distributed to all members of the London Deanery Synapse® network. In total, 364 fathers responded. Their seniority ranged from foundation trainees to consultants. Following the formal introduction of OPL in 2003, the number of fathers taking any paternity leave increased (from 50% to 95.6%). The majority of respondents (76.7%) felt well supported by their employer. Since the introduction of APL, 3% of respondents took additional leave. Reasons for the low uptake of APL included the impracticalities of the law, poor awareness and perceived attitudes and implications for training. Problems with OPL included the inadequate provision of cover and difficulties in timing the leave appropriately.

Advanced paternal age and stillbirth rate

DEFF Research Database (Denmark)

Urhøj, Stine Kjær; Andersen, Per Kragh; Mortensen, Laust Hvas

2017-01-01

Advanced paternal age has been associated with a variety of rare conditions and diseases of great public health impact. An increased number of de novo point mutations in sperm with increasing age have been suggested as a mechanism, which would likely also affect fetal viability. We examined...... the association between paternal age and stillbirth rate in a large nationwide cohort. We identified all pregnancies in Denmark from 1994 to 2010 carried to a gestational age of at least 22 completed weeks (n = 944,031) as registered in national registers and linked to individual register data about the parents....... The hazard ratio of stillbirth according to paternal age was estimated, adjusted for maternal age in 1-year categories, year of outcome, and additionally parental educational levels. The relative rate of stillbirth (n = 4946) according to paternal age was found to be J-shaped with the highest hazard ratio...

Maternal modulation of paternal effects on offspring development.

Science.gov (United States)

Mashoodh, Rahia; Habrylo, Ireneusz B; Gudsnuk, Kathryn M; Pelle, Geralyn; Champagne, Frances A

2018-03-14

The paternal transmission of environmentally induced phenotypes across generations has been reported to occur following a number of qualitatively different exposures and appear to be driven, at least in part, by epigenetic factors that are inherited via the sperm. However, previous studies of paternal germline transmission have not addressed the role of mothers in the propagation of paternal effects to offspring. We hypothesized that paternal exposure to nutritional restriction would impact male mate quality and subsequent maternal reproductive investment with consequences for the transmission of paternal germline effects. In the current report, using embryo transfer in mice, we demonstrate that sperm factors in adult food restricted males can influence growth rate, hypothalamic gene expression and behaviour in female offspring. However, under natural mating conditions females mated with food restricted males show increased pre- and postnatal care, and phenotypic outcomes observed during embryo transfer conditions are absent or reversed. We demonstrate that these compensatory changes in maternal investment are associated with a reduced mate preference for food restricted males and elevated gene expression within the maternal hypothalamus. Therefore, paternal experience can influence offspring development via germline inheritance, but mothers can serve as a modulating factor in determining the impact of paternal influences on offspring development. © 2018 The Author(s).

From here to paternity: neural correlates of the onset of paternal behavior in California mice (Peromyscus californicus).

Science.gov (United States)

de Jong, Trynke R; Chauke, Miyetani; Harris, Breanna N; Saltzman, Wendy

2009-08-01

In a minority of mammalian species, including humans, fathers play a significant role in infant care. Compared to maternal behavior, the neural and hormonal bases of paternal care are poorly understood. We analyzed behavioral, neuronal and neuropeptide responses towards unfamiliar pups in biparental California mice, comparing males housed with another male ("virgin males") or with a female before ("paired males") or after ("new fathers") the birth of their first litter. New fathers approached pups more rapidly and spent more time engaging in paternal behavior than virgin males. In each cage housing two virgin males, one was spontaneously paternal and one was not. New fathers and paired males spent more time sniffing and touching a wire mesh ball containing a newborn pup than virgin males. Only new fathers showed significantly increased Fos-like immunoreactivity in the medial preoptic nucleus (MPO) following exposure to a pup-containing ball, as compared to an empty ball. Moreover, Fos-LIR in the bed nucleus of the stria terminalis (STMV and STMPM) and caudal dorsal raphe nucleus (DRC) was increased in new fathers, independent of test condition. No differences were found among the groups in Fos-LIR in oxytocinergic or vasopressinergic neurons. These results suggest that sexual and paternal experiences facilitate paternal behavior, but other cues play a role as well. Paternal experience increases Fos-LIR induced by distal pup cues in the MPO, but not in oxytocin and vasopressin neurons. Fatherhood also appears to alter neurotransmission in the BNST and DRC, regions implicated in emotionality and stress-responsiveness.

Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3

Energy Technology Data Exchange (ETDEWEB)

Greger, V.; Knoll, J.H.M.; Wagstaff, J.; Lalande, M. [and others

1997-03-01

Angelman syndrome (AS) most frequently results from large ({ge}5 Mb) de novo deletions of chromosome 15q11-q13. The deletions are exclusively of maternal origin, and a few cases of paternal uniparental disomy of chromosome 15 have been reported. The latter finding indicates that AS is caused by the absence of a maternal contribution to the imprinted 15q11-q13 region. Failure to inherit a paternal 15q11-q13 contribution results in the clinically distinct disorder of Prader-Willi syndrome. Cases of AS resulting from translocations or pericentric inversions have been observed to be associated with deletions, and there have been no confirmed reports of balanced rearrangements in AS. We report the first such case involving a paracentric inversion with a breakpoint located {approximately}25 kb proximal to the reference marker D15S10. This inversion has been inherited from a phenotypically normal mother. No deletion is evident by molecular analysis in this case, by use of cloned fragments mapped to within {approximately}1 kb of the inversion breakpoint. Several hypotheses are discussed to explain the relationship between the inversion and the AS phenotype. 47 refs., 3 figs.

Avian paternal care had dinosaur origin.

Science.gov (United States)

Varricchio, David J; Moore, Jason R; Erickson, Gregory M; Norell, Mark A; Jackson, Frankie D; Borkowski, John J

2008-12-19

The repeated discovery of adult dinosaurs in close association with egg clutches leads to speculation over the type and extent of care exhibited by these extinct animals for their eggs and young. To assess parental care in Cretaceous troodontid and oviraptorid dinosaurs, we examined clutch volume and the bone histology of brooding adults. In comparison to four archosaur care regressions, the relatively large clutch volumes of Troodon, Oviraptor, and Citipati scale most closely with a bird-paternal care model. Clutch-associated adults lack the maternal and reproductively associated histologic features common to extant archosaurs. Large clutch volumes and a suite of reproductive features shared only with birds favor paternal care, possibly within a polygamous mating system. Paternal care in both troodontids and oviraptorids indicates that this care system evolved before the emergence of birds and represents birds' ancestral condition. In extant birds and over most adult sizes, paternal and biparental care correspond to the largest and smallest relative clutch volumes, respectively.

The extremely divergent maternally- and paternally-transmitted mitochondrial genomes are co-expressed in somatic tissues of two freshwater mussel species with doubly uniparental inheritance of mtDNA

Science.gov (United States)

Breton, Sophie; Bouvet, Karim; Auclair, Gabrielle; Ghazal, Stephanie; Sietman, Bernard E.; Johnson, Nathan A.; Bettinazzi, Stefano; Dtewart, Donald T.; Guerra, Davide

2017-01-01

Freshwater mussel species with doubly uniparental inheritance (DUI) of mtDNA are unique because they are naturally heteroplasmic for two extremely divergent mtDNAs with ~50% amino acid differences for protein-coding genes. The paternally-transmitted mtDNA (or M mtDNA) clearly functions in sperm in these species, but it is still unknown whether it is transcribed when present in male or female soma. In the present study, we used PCR and RT-PCR to detect the presence and expression of the M mtDNA in male and female somatic and gonadal tissues of the freshwater mussel species Venustaconcha ellipsiformis and Utterbackia peninsularis (Unionidae). This is the first study demonstrating that the M mtDNA is transcribed not only in male gonads, but also in male and female soma in freshwater mussels with DUI. Because of the potentially deleterious nature of heteroplasmy, we suggest the existence of different mechanisms in DUI species to deal with this possibly harmful situation, such as silencing mechanisms for the M mtDNA at the transcriptional, post-transcriptional and/or post-translational levels. These hypotheses will necessitate additional studies in distantly-related DUI species that could possess different mechanisms of action to deal with heteroplasmy.

Two girls with a de novo Xq rearrangement of paternal origin: t(X;9(q24;q12 or rea(Xdup q

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Ana I. Vásquez-Velásquez

2016-04-01

Full Text Available Objective: We report on two rare Xq rearrangements, namely a t(X;9(q24;q12 found in a mildly-affected girl (Patient 1 and a rea(Xdup q concomitant with a rob(14;21mat in a Down syndrome girl (Patient 2. Case report: Both rearrangements were characterized by banding techniques [Giemsa (G, constitutive heterochromatin (C, and bromodeoxyuridine (BrdU pulse], fluorescence in situ hybridization (FISH assays, human androgen receptor (HUMAR assays, and microarray analyses. Patient 1 had a t(X;9(q24;q12dn. Patient 2 had a de novo rea(X(qter→q23 or q24::p11.2→qter concomitant with an unbalanced rob(14;21mat. X-Inactivation studies in metaphases and DNA revealed a fully skewed inactivation: the normal homolog was silenced in Patient 1 and the rea(X in Patient 2. Both rearranged X chromosomes were of paternal descent. Microarray analyses revealed no imbalances in Patient 1 whereas loss of Xp (∼52 Mb and duplication of Xq (∼44 Mb and 21q were confirmed in Patient 2. Conclusion: Our observations further document the cytogenetic heterogeneity and predominant paternal origin of certain de novo X-chromosome rearrangements.

Paternal Age Alters Social Development in Offspring.

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Janecka, Magdalena; Haworth, Claire M A; Ronald, Angelica; Krapohl, Eva; Happé, Francesca; Mill, Jonathan; Schalkwyk, Leonard C; Fernandes, Cathy; Reichenberg, Abraham; Rijsdijk, Frühling

2017-05-01

Advanced paternal age (APA) at conception has been linked with autism and schizophrenia in offspring, neurodevelopmental disorders that affect social functioning. The current study explored the effects of paternal age on social development in the general population. We used multilevel growth modeling to investigate APA effects on socioemotional development from early childhood until adolescence, as measured by the Strengths and Difficulties Questionnaire (SDQ) in the Twins Early Development Study (TEDS) sample. We also investigated genetic and environmental underpinnings of the paternal age effects on development, using the Additive genetics, Common environment, unique Environment (ACE) and gene-environment (GxE) models. In the general population, both very young and advanced paternal ages were associated with altered trajectory of social development (intercept: p = .01; slope: p = .03). No other behavioral domain was affected by either young or advanced age at fatherhood, suggesting specificity of paternal age effects. Increased importance of genetic factors in social development was recorded in the offspring of older but not very young fathers, suggesting distinct underpinnings of the paternal age effects at these two extremes. Our findings highlight that the APA-related deficits that lead to autism and schizophrenia are likely continuously distributed in the population. Copyright © 2017 American Academy of Child and Adolescent Psychiatry. Published by Elsevier Inc. All rights reserved.

Multilocus DNA fingerprinting in paternity analysis: a Chilean experience

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Cifuentes O. Lucía

2000-01-01

Full Text Available DNA polymorphism is very useful in paternity analysis. The present paper describes paternity studies done using DNA profiles obtained with the (CAC5 probe. All of the subjects studied were involved in nonjudicial cases of paternity. Genomic DNA digested with HaeIII was run on agarose gels and hybridized in the gel with the (CAC5 probe labeled with 32P. The mean number of bands larger than the 4.3 kb per individual was 16.1. The mean proportion of bands shared among unrelated individuals was 0.08 and the mean number of test bands was 7.1. This corresponded to an exclusion probability greater than 0.999999. Paternity was excluded in 34.5% of the cases. The mutation frequency estimated from non-excluded cases was 0.01143 bands per child. In these cases, the paternity was confirmed by a locus-specific analysis of eight independent PCR-based loci. The paternity index was computed in all non-excluded cases. It can be concluded that this method is a powerful and inexpensive alternative to solve paternity doubts.

Constitutional chromosomal events at 22q11 and 15q26 in a child with a pilocytic astrocytoma of the spinal cord.

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Mascelli, Samantha; Severino, Mariasavina; Raso, Alessandro; Nozza, Paolo; Tassano, Elisa; Morana, Giovanni; De Marco, Patrizia; Merello, Elisa; Milanaccio, Claudia; Pavanello, Marco; Rossi, Andrea; Cama, Armando; Garrè, Maria Luisa; Capra, Valeria

2014-01-01

We report on a 9-years-old patient with mild intellectual disability, facial dimorphisms, bilateral semicircular canal dysplasia, periventricular nodular heterotopias, bilateral hippocampal malrotation and abnormal cerebellar foliation, who developed mild motor impairment and gait disorder due to a pilocytic astrocytoma of the spinal cord. Array-CGH analysis revealed two paternal inherited chromosomal events: a 484.3 Kb duplication on chromosome 15q26.3 and a 247 Kb deletion on 22q11.23. Further, a second de novo 1.5 Mb deletion on 22q11.21 occurred. Chromosome 22 at q11.2 and chromosome 15 at q24q26 are considered unstable regions subjected to copy number variations, i.e. structural alterations of genome, mediated by low copy repeat sequences or segmental duplications. The link between some structural CNVs, which compromise fundamental processes controlling DNA stability, and genomic disorders suggest a plausible scenario for cancer predisposition. Evaluation of the genes at the breakpoints cannot account simultaneously for the phenotype and tumour development in this patient. The two paternal inherited CNVs arguably are not pathogenic and do not contribute to the clinical manifestations. Similarly, although the de novo large deletion at 22q11.21 overlaps with the Di George (DGS) critical region and results in haploinsufficiency of genes compromising critical processes for DNA stability, this case lacks several hallmarks of DGS.

Sex Determination, Sex Chromosomes, and Karyotype Evolution in Insects.

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Blackmon, Heath; Ross, Laura; Bachtrog, Doris

2017-01-01

Insects harbor a tremendous diversity of sex determining mechanisms both within and between groups. For example, in some orders such as Hymenoptera, all members are haplodiploid, whereas Diptera contain species with homomorphic as well as male and female heterogametic sex chromosome systems or paternal genome elimination. We have established a large database on karyotypes and sex chromosomes in insects, containing information on over 13000 species covering 29 orders of insects. This database constitutes a unique starting point to report phylogenetic patterns on the distribution of sex determination mechanisms, sex chromosomes, and karyotypes among insects and allows us to test general theories on the evolutionary dynamics of karyotypes, sex chromosomes, and sex determination systems in a comparative framework. Phylogenetic analysis reveals that male heterogamety is the ancestral mode of sex determination in insects, and transitions to female heterogamety are extremely rare. Many insect orders harbor species with complex sex chromosomes, and gains and losses of the sex-limited chromosome are frequent in some groups. Haplodiploidy originated several times within insects, and parthenogenesis is rare but evolves frequently. Providing a single source to electronically access data previously distributed among more than 500 articles and books will not only accelerate analyses of the assembled data, but also provide a unique resource to guide research on which taxa are likely to be informative to address specific questions, for example, for genome sequencing projects or large-scale comparative studies. © The American Genetic Association 2016. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Chromosome segregation regulation in human zygotes: altered mitotic histone phosphorylation dynamics underlying centromeric targeting of the chromosomal passenger complex.

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van de Werken, C; Avo Santos, M; Laven, J S E; Eleveld, C; Fauser, B C J M; Lens, S M A; Baart, E B

2015-10-01

regulatory kinase pathways involved in centromeric CPC targeting revealed normal phosphorylation dynamics of histone H2A at T120 (H2ApT120) by Bub1 kinase and subsequent recruitment of Shugoshin. However, phosphorylation of histone H3 at threonine 3 (H3pT3) by Haspin kinase failed to show the expected centromeric enrichment on metaphase chromosomes in the zygote, but not at later stages. Inhibition of Haspin revealed this activity to be essential for proper mitotic checkpoint complex activation in human zygotes, thus demonstrating an active mitotic checkpoint under normal conditions. Abolishment of H3pT3 during zygotic prometaphase further shows that centromeric H2ApT120 alone is not sufficient for proper shugoshin and CPC localization. As the removal of H3pT3 from the chromosome arms during prometaphase normally contributes to further centromeric enrichment of the CPC in somatic cells, CPC targeting may be less accurate in human zygotes. Owing to ethical limitations, tripronuclear zygotes were used in functional experiments. Although these represent the best available models, it is unknown if they are completely representative for dipronuclear zygotes. In addition, further research is needed to determine to what extent the differences we observed in H3T3 phosphorylation dynamics and CPC localization affect chromosome attachment. In the zygote, paternal and maternal chromosomes coming from two separate pronuclei, and with contrasting epigenetic signatures, need to be aligned on a single metaphase plate. Our results suggest that adaptations in mechanisms regulating CPC targeting exist in the human zygote, to ensure symmetric recruitment despite the epigenetic asymmetry between maternal and paternal chromosomes. This adaptation may come at a price regarding chromosome segregation fidelity. This study was funded by the Portuguese Fundação para a Ciência e Tecnologia and the Netherlands Organization for Scientific Research. The authors have no conflicts of interest to declare

Disruption of Maternal DNA Repair Increases Sperm-DerivedChromosomal Aberrations

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Marchetti, Francesco; Essers, Jeroun; Kanaar, Roland; Wyrobek,Andrew J.

2007-02-07

The final weeks of male germ cell differentiation occur in aDNA repair-deficient environment and normal development depends on theability of the egg to repair DNA damage in the fertilizing sperm. Geneticdisruption of maternal DNA double-strand break repair pathways in micesignificantly increased the frequency of zygotes with chromosomalstructural aberrations after paternal exposure to ionizing radiation.These findings demonstrate that radiation-induced DNA sperm lesions arerepaired after fertilization by maternal factors and suggest that geneticvariation in maternal DNA repair can modulate the risk of early pregnancylosses and of children with chromosomal aberrations of paternalorigin.

Genotype Reconstruction of Paternity in European Lobsters (Homarus gammarus).

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Ellis, Charlie D; Hodgson, David J; André, Carl; Sørdalen, Tonje K; Knutsen, Halvor; Griffiths, Amber G F

2015-01-01

Decapod crustaceans exhibit considerable variation in fertilisation strategies, ranging from pervasive single paternity to the near-ubiquitous presence of multiple paternity, and such knowledge of mating systems and behaviour are required for the informed management of commercially-exploited marine fisheries. We used genetic markers to assess the paternity of individual broods in the European lobster, Homarus gammarus, a species for which paternity structure is unknown. Using 13 multiplexed microsatellite loci, three of which are newly described in this study, we genotyped 10 eggs from each of 34 females collected from an Atlantic peninsula in the south-western United Kingdom. Single reconstructed paternal genotypes explained all observed progeny genotypes in each of the 34 egg clutches, and each clutch was fertilised by a different male. Simulations indicated that the probability of detecting multiple paternity was in excess of 95% if secondary sires account for at least a quarter of the brood, and in excess of 99% where additional sire success was approximately equal. Our results show that multiple paternal fertilisations are either absent, unusual, or highly skewed in favour of a single male among H. gammarus in this area. Potential mechanisms upholding single paternal fertilisation are discussed, along with the prospective utility of parentage assignments in evaluations of hatchery stocking and other fishery conservation approaches in light of this finding.

Genotype Reconstruction of Paternity in European Lobsters (Homarus gammarus.

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Charlie D Ellis

Full Text Available Decapod crustaceans exhibit considerable variation in fertilisation strategies, ranging from pervasive single paternity to the near-ubiquitous presence of multiple paternity, and such knowledge of mating systems and behaviour are required for the informed management of commercially-exploited marine fisheries. We used genetic markers to assess the paternity of individual broods in the European lobster, Homarus gammarus, a species for which paternity structure is unknown. Using 13 multiplexed microsatellite loci, three of which are newly described in this study, we genotyped 10 eggs from each of 34 females collected from an Atlantic peninsula in the south-western United Kingdom. Single reconstructed paternal genotypes explained all observed progeny genotypes in each of the 34 egg clutches, and each clutch was fertilised by a different male. Simulations indicated that the probability of detecting multiple paternity was in excess of 95% if secondary sires account for at least a quarter of the brood, and in excess of 99% where additional sire success was approximately equal. Our results show that multiple paternal fertilisations are either absent, unusual, or highly skewed in favour of a single male among H. gammarus in this area. Potential mechanisms upholding single paternal fertilisation are discussed, along with the prospective utility of parentage assignments in evaluations of hatchery stocking and other fishery conservation approaches in light of this finding.

Y-chromosomal diversity in the population of Guinea-Bissau: a multiethnic perspective

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Jobling Mark A

2007-07-01

Full Text Available Abstract Background The geographic and ethnolinguistic differentiation of many African Y-chromosomal lineages provides an opportunity to evaluate human migration episodes and admixture processes, in a pan-continental context. The analysis of the paternal genetic structure of Equatorial West Africans carried out to date leaves their origins and relationships unclear, and raises questions about the existence of major demographic phenomena analogous to the large-scale Bantu expansions. To address this, we have analysed the variation of 31 binary and 11 microsatellite markers on the non-recombining portion of the Y chromosome in Guinea-Bissau samples of diverse ethnic affiliations, some not studied before. Results The Guinea-Bissau Y chromosome pool is characterized by low haplogroup diversity (D = 0.470, sd 0.033, with the predominant haplogroup E3a*-M2 shared among the ethnic clusters and reaching a maximum of 82.2% in the Mandenka people. The Felupe-Djola and Papel groups exhibit the highest diversity of lineages and harbor the deep-rooting haplogroups A-M91, E2-M75 and E3*-PN2, typical of Sahel's more central and eastern areas. Their genetic distinction from other groups is statistically significant (P = 0.01 though not attributable to linguistic, geographic or religious criteria. Non sub-Saharan influences were associated with the presence of haplogroup R1b-P25 and particular lineages of E3b1-M78. Conclusion The predominance and high diversity of haplogroup E3a*-M2 suggests a demographic expansion in the equatorial western fringe, possibly supported by a local agricultural center. The paternal pool of the Mandenka and Balanta displays evidence of a particularly marked population growth among the Guineans, possibly reflecting the demographic effects of the agriculturalist lifestyle and their putative relationship to the people that introduced early cultivation practices into West Africa. The paternal background of the Felupe-Djola and Papel

Multiple paternity in reptiles: patterns and processes.

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Uller, Tobias; Olsson, Mats

2008-06-01

The evolution of female promiscuity poses an intriguing problem as benefits of mating with multiple males often have to arise via indirect, genetic, effects. Studies on birds have documented that multiple paternity is common in natural populations but strong evidence for selection via female benefits is lacking. In an attempt to evaluate the evidence more broadly, we review studies of multiple paternity in natural populations of all major groups of nonavian reptiles. Multiple paternity has been documented in all species investigated so far and commonly exists in over 50% of clutches, with particularly high levels in snakes and lizards. Marine turtles and lizards with prolonged pair-bonding have relatively low levels of multiple paternity but levels are nevertheless higher than in many vertebrates with parental care. There is no evidence that high levels of polyandry are driven by direct benefits to females and the evidence that multiple paternity arises from indirect genetic benefits is weak. Instead, we argue that the most parsimonious explanation for patterns of multiple paternity is that it represents the combined effect of mate-encounter frequency and conflict over mating rates between males and females driven by large male benefits and relatively small female costs, with only weak selection via indirect benefits. A crucial step for researchers is to move from correlative approaches to experimental tests of assumptions and predictions of theory under natural settings, using a combination of molecular techniques and behavioural observations.

The impact of paternity leave on fathers' future earnings.

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Rege, Mari; Solli, Ingeborg F

2013-12-01

Using Norwegian registry data, we investigate the effect of paternity leave on fathers' long-term earnings. If the paternity leave increased long-term father involvement, then we should expect a reduction in fathers' long-term earnings as they shift time and effort from market to home production. For identification, we use the Norwegian introduction of a paternity-leave quota in 1993, reserving four weeks of the total of 42 weeks of paid parental leave exclusively for the father. The introduction of the paternity-leave quota led to a sharp increase in rates of leave-taking for fathers. We estimate a difference-in-differences model that exploits differences in fathers' exposure to the paternity-leave quota by the child's age and year of observation. Our analysis suggests that four weeks of paternity leave during the child's first year decreases fathers' future earnings, an effect that persists through our last point of observation, when the child is 5 years old. A battery of robustness tests supports our results.

Contrasting patterns of Y-chromosome variation in South Siberian populations from Baikal and Altai-Sayan regions.

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Derenko, Miroslava; Malyarchuk, Boris; Denisova, Galina A; Wozniak, Marcin; Dambueva, Irina; Dorzhu, Choduraa; Luzina, Faina; Miścicka-Sliwka, Danuta; Zakharov, Ilia

2006-01-01

In order to investigate the genetic history of autochthonous South Siberian populations and to estimate the contribution of distinct patrilineages to their gene pools, we have analyzed 17 Y-chromosomal binary markers (YAP, RPS4Y(711), SRY-8299, M89, M201, M52, M170, 12f2, M9, M20, 92R7, SRY-1532, DYS199, M173, M17, Tat, and LLY22 g) in a total sample of 1,358 males from 14 ethnic groups of Siberia (Altaians-Kizhi, Teleuts, Shors, Tuvinians, Todjins, Tofalars, Sojots, Khakassians, Buryats, Evenks), Central/Eastern Asia (Mongolians and Koreans) and Eastern Europe (Kalmyks and Russians). Based on both, the distribution pattern of Y-chromosomal haplogroups and results on AMOVA analysis we observed the statistically significant genetic differentiation between the populations of Baikal and Altai-Sayan regions. We suggest that these regional differences can be best explained by different contribution of Central/Eastern Asian and Eastern European paternal lineages into gene pools of modern South Siberians. The population of the Baikal region demonstrates the prevalence of Central/Eastern Asian lineages, whereas in the populations of Altai and Sayan regions the highest paternal contribution resulted from Eastern European descent is revealed. Yet, our data on Y-chromosome STRs variation demonstrate the clear differences between the South Siberian and Eastern European R1a1-lineages with the evolutionary ages compatible with divergence time between these two regional groups.

Deletions of a differentially methylated CpG island at SNRPN define a putative imprinting control region

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Sutcliffe, J.S.,; Nakao, M.; Beaudet, A.L. [Baylor College of Medicine, Houston, TX (United States)] [and others

1994-09-01

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are associated with paternal and maternal deficiencies, respectively, of gene expression within human chromosome 15q11-q13, and are caused by deletion, uniparental disomy, or other mutations. Four transcripts designated PAR-5, PAR-7, PAR-1 and PAR-4 were isolated and localized to a region within 300 kb telomeric to the gene encoding small nuclear ribonucleoprotein-associated polypeptide N (SNRPN). Analysis of the transcripts in cultured fibroblasts and lymphoblasts from deletion patients demonstrated that SNRPN, PAR-5 and PAR-1 are expressed exclusively from the paternal chromosome, defining an imprinted domain that spans at least 200 kb. All three imprinted transcripts were absent in cells from three PWS patients (one pair of sibs and one sporadic case) with small deletions that involve a differentially methylated CpG island containing a previously undescribed 5{prime} untranslated exon ({alpha}) of SNRPN. Methylation of the CpG island is specific for the maternal chromosome consistent with paternal expression of the imprinted domain. One deletion, which is benign when maternally transmitted, extends upstream <30 kb from the CpG island, and is associated with altered methylation centromeric to SNRPN, and loss of transcription telomeric to SNRPN, implying the presence of an imprinting control region around the CpG island containing exon {alpha}.

Klinefelter syndrome and other sex chromosomal aneuploidies

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Graham John M

2006-10-01

Full Text Available Abstract The term Klinefelter syndrome (KS describes a group of chromosomal disorder in which there is at least one extra X chromosome to a normal male karyotype, 46,XY. XXY aneuploidy is the most common disorder of sex chromosomes in humans, with prevalence of one in 500 males. Other sex chromosomal aneuploidies have also been described, although they are much less frequent, with 48,XXYY and 48,XXXY being present in 1 per 17,000 to 1 per 50,000 male births. The incidence of 49,XXXXY is 1 per 85,000 to 100,000 male births. In addition, 46,XX males also exist and it is caused by translocation of Y material including sex determining region (SRY to the X chromosome during paternal meiosis. Formal cytogenetic analysis is necessary to make a definite diagnosis, and more obvious differences in physical features tend to be associated with increasing numbers of sex chromosomes. If the diagnosis is not made prenatally, 47,XXY males may present with a variety of subtle clinical signs that are age-related. In infancy, males with 47,XXY may have chromosomal evaluations done for hypospadias, small phallus or cryptorchidism, developmental delay. The school-aged child may present with language delay, learning disabilities, or behavioral problems. The older child or adolescent may be discovered during an endocrine evaluation for delayed or incomplete pubertal development with eunuchoid body habitus, gynecomastia, and small testes. Adults are often evaluated for infertility or breast malignancy. Androgen replacement therapy should begin at puberty, around age 12 years, in increasing dosage sufficient to maintain age appropriate serum concentrations of testosterone, estradiol, follicle stimulating hormone (FSH, and luteinizing hormone (LH. The effects on physical and cognitive development increase with the number of extra Xs, and each extra X is associated with an intelligence quotient (IQ decrease of approximately 15–16 points, with language most affected

Transient and Partial Nuclear Lamina Disruption Promotes Chromosome Movement in Early Meiotic Prophase.

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Link, Jana; Paouneskou, Dimitra; Velkova, Maria; Daryabeigi, Anahita; Laos, Triin; Labella, Sara; Barroso, Consuelo; Pacheco Piñol, Sarai; Montoya, Alex; Kramer, Holger; Woglar, Alexander; Baudrimont, Antoine; Markert, Sebastian Mathias; Stigloher, Christian; Martinez-Perez, Enrique; Dammermann, Alexander; Alsheimer, Manfred; Zetka, Monique; Jantsch, Verena

2018-04-23

Meiotic chromosome movement is important for the pairwise alignment of homologous chromosomes, which is required for correct chromosome segregation. Movement is driven by cytoplasmic forces, transmitted to chromosome ends by nuclear membrane-spanning proteins. In animal cells, lamins form a prominent scaffold at the nuclear periphery, yet the role lamins play in meiotic chromosome movement is unclear. We show that chromosome movement correlates with reduced lamin association with the nuclear rim, which requires lamin phosphorylation at sites analogous to those that open lamina network crosslinks in mitosis. Failure to remodel the lamina results in delayed meiotic entry, altered chromatin organization, unpaired or interlocked chromosomes, and slowed chromosome movement. The remodeling kinases are delivered to lamins via chromosome ends coupled to the nuclear envelope, potentially enabling crosstalk between the lamina and chromosomal events. Thus, opening the lamina network plays a role in modulating contacts between chromosomes and the nuclear periphery during meiosis. Copyright © 2018 The Author(s). Published by Elsevier Inc. All rights reserved.

Y-chromosomal diversity of the Valachs from the Czech Republic: model for isolated population in Central Europe

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Ehler, Edvard; Vaněk, Daniel; Stenzl, Vlastimil; Vančata, Václav

2011-01-01

Aim To evaluate Y-chromosomal diversity of the Moravian Valachs of the Czech Republic and compare them with a Czech population sample and other samples from Central and South-Eastern Europe, and to evaluate the effects of genetic isolation and sampling. Methods The first sample set of the Valachs consisted of 94 unrelated male donors from the Valach region in northeastern Czech Republic border-area. The second sample set of the Valachs consisted of 79 men who originated from 7 paternal lineages defined by surname. No close relatives were sampled. The third sample set consisted of 273 unrelated men from the whole of the Czech Republic and was used for comparison, as well as published data for other 27 populations. The total number of samples was 3244. Y-short tandem repeat (STR) markers were typed by standard methods using PowerPlex® Y System (Promega) and Yfiler® Amplification Kit (Applied Biosystems) kits. Y-chromosomal haplogroups were estimated from the haplotype information. Haplotype diversity and other intra- and inter-population statistics were computed. Results The Moravian Valachs showed a lower genetic variability of Y-STR markers than other Central European populations, resembling more to the isolated Balkan populations (Aromuns, Csango, Bulgarian, and Macedonian Roma) than the surrounding populations (Czechs, Slovaks, Poles, Saxons). We illustrated the effect of sampling on Valach paternal lineages, which includes reduction of discrimination capacity and variability inside Y-chromosomal haplogroups. Valach modal haplotype belongs to R1a haplogroup and it was not detected in the Czech population. Conclusion The Moravian Valachs display strong substructure and isolation in their Y chromosomal markers. They represent a unique Central European population model for population genetics. PMID:21674832

Characterization of X chromosome inactivation using integrated analysis of whole-exome and mRNA sequencing.

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Szabolcs Szelinger

Full Text Available In females, X chromosome inactivation (XCI is an epigenetic, gene dosage compensatory mechanism by inactivation of one copy of X in cells. Random XCI of one of the parental chromosomes results in an approximately equal proportion of cells expressing alleles from either the maternally or paternally inherited active X, and is defined by the XCI ratio. Skewed XCI ratio is suggestive of non-random inactivation, which can play an important role in X-linked genetic conditions. Current methods rely on indirect, semi-quantitative DNA methylation-based assay to estimate XCI ratio. Here we report a direct approach to estimate XCI ratio by integrated, family-trio based whole-exome and mRNA sequencing using phase-by-transmission of alleles coupled with allele-specific expression analysis. We applied this method to in silico data and to a clinical patient with mild cognitive impairment but no clear diagnosis or understanding molecular mechanism underlying the phenotype. Simulation showed that phased and unphased heterozygous allele expression can be used to estimate XCI ratio. Segregation analysis of the patient's exome uncovered a de novo, interstitial, 1.7 Mb deletion on Xp22.31 that originated on the paternally inherited X and previously been associated with heterogeneous, neurological phenotype. Phased, allelic expression data suggested an 83∶20 moderately skewed XCI that favored the expression of the maternally inherited, cytogenetically normal X and suggested that the deleterious affect of the de novo event on the paternal copy may be offset by skewed XCI that favors expression of the wild-type X. This study shows the utility of integrated sequencing approach in XCI ratio estimation.

Cryptic species? Patterns of maternal and paternal gene flow in eight neotropical bats.

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Elizabeth L Clare

Full Text Available Levels of sequence divergence at mitochondrial loci are frequently used in phylogeographic analysis and species delimitation though single marker systems cannot assess bi-parental gene flow. In this investigation I compare the phylogeographic patterns revealed through the maternally inherited mitochondrial COI region and the paternally inherited 7(th intron region of the Dby gene on the Y-chromosome in eight common Neotropical bat species. These species are diverse and include members of two families from the feeding guilds of sanguivores, nectarivores, frugivores, carnivores and insectivores. In each case, the currently recognized taxon is comprised of distinct, substantially divergent intraspecific mitochondrial lineages suggesting cryptic species complexes. In Chrotopterus auritus, and Saccopteryx bilineata I observed congruent patterns of divergence in both genetic regions suggesting a cessation of gene flow between intraspecific groups. This evidence supports the existence of cryptic species complexes which meet the criteria of the genetic species concept. In Glossophaga soricina two intraspecific groups with largely sympatric South American ranges show evidence for incomplete lineage sorting or frequent hybridization while a third group with a Central American distribution appears to diverge congruently at both loci suggesting speciation. Within Desmodus rotundus and Trachops cirrhosus the paternally inherited region was monomorphic and thus does not support or refute the potential for cryptic speciation. In Uroderma bilobatum, Micronycteris megalotis and Platyrrhinus helleri the gene regions show conflicting patterns of divergence and I cannot exclude ongoing gene flow between intraspecific groups. This analysis provides a comprehensive comparison across taxa and employs both maternally and paternally inherited gene regions to validate patterns of gene flow. I present evidence for previously unrecognized species meeting the criteria of

The formation and recovery of two-break chromosome rearrangements from irradiated spermatozoa of Drosophila melanogaster

International Nuclear Information System (INIS)

Leigh, B.

1978-01-01

Chromosome and chromatid-type rearrangements can be induced by exposure of spermatozoa of Drosophila to ionising radiation. A model, proposed to explain the formation and recovery of compound autosomes, has been extended to account for the induction of centric fragments capped by a duplication of paternal chromosome material. Three basic assumptions have been used; (1) that the sperm nucleus contains a haploid set of unreplicated chromosomes, (2) that the broken chromosome ends can be joined together before or after replication, and (3) that one of the first two cleavage nuclei may be lost and an adult organism derived from the other. The present paper reports a theoretical application of this combination of aasumptions to the general case of the formation and recovery of two-break rearrangements. This has led to an elucidation of the relation between repeats, compounds, fragments, and deficiencies on the one hand and inversions and translocations on the other hand. Dicentric chromosomes and segmental aneuploidy can be simply explained. A selective screen is formed by the segregation of chromatid rearrangements and the aneuploidy tolerance levels of the early cleavage nuclei. Thus there is an alternative way of explaining observations which might indicate preferential breakage or joining

Consistent paternity skew through ontogeny in Peron's tree frog (Litoria peronii.

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Craig D H Sherman

Full Text Available BACKGROUND: A large number of studies in postcopulatory sexual selection use paternity success as a proxy for fertilization success. However, selective mortality during embryonic development can lead to skews in paternity in situations of polyandry and sperm competition. Thus, when assessment of paternity fails to incorporate mortality skews during early ontogeny, this may interfere with correct interpretation of results and subsequent evolutionary inference. In a previous series of in vitro sperm competition experiments with amphibians (Litoria peronii, we showed skewed paternity patterns towards males more genetically similar to the female. METHODOLOGY/PRINCIPAL FINDINGS: Here we use in vitro fertilizations and sperm competition trials to test if this pattern of paternity of fully developed tadpoles reflects patterns of paternity at fertilization and if paternity skews changes during embryonic development. We show that there is no selective mortality through ontogeny and that patterns of paternity of hatched tadpoles reflects success of competing males in sperm competition at fertilization. CONCLUSIONS/SIGNIFICANCE: While this study shows that previous inferences of fertilization success from paternity data are valid for this species, rigorous testing of these assumptions is required to ensure that differential embryonic mortality does not confound estimations of true fertilization success.

Single cell analysis demonstrating somatic mosaicism involving 11p in a patient with paternal isodisomy and Beckwith-Wiedemann Syndrome

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Bischoff, F.Z.; McCaskill, C.; Subramanian, S. [Baylor College of Medicine, Houston, TX (United States)] [and others

1994-09-01

Beckwith-Wiedemann Syndrome (BWS) is characterized by numerous growth abnormalities including exomphalos, macroglossia, gigantism, and hemihypertrophy or hemihyperplasia. The {open_quotes}BWS gene{close_quotes} appears to be maternally repressed and is suspected to function as a growth factor or regulator of somatic growth, since activation of this gene through a variety of mechanisms appears to result in somatic overgrowth and tumor development. Mosaic paternal isodisomy of 11p has been observed previously by others in patients with BWS by Southern blot analysis of genomic DNA. The interpretation of these results was primarily based on the intensities of the hybridization signals for the different alleles. In our study, we demonstrate somatic mosaicism directly through PCR and single cell analysis. Peripheral blood was obtained from a patient with BWS and initial genomic DNA analysis by PCR was suggestive of somatic mosaicism for paternal isodisomy of 11p. Through micromanipulation, single cells were isolated and subjected to primer extention preamplification. Locus-specific microsatellite marker analyses by PCR were performed to determine the chromosome 11 origins in the preamplified individual cells. Two populations of cells were detected, a population of cells with normal biparental inheritance and a population of cells with paternal isodisomy of 11p and biparental disomy of 11q. Using the powerful approach of single cell analysis, the detected somatic mosaicism provides evidence for a mitotic recombinational event that has resulted in loss of the maternal 11p region and gain of a second copy of paternal 11p in some cells. The direct demonstration of mosaicism may explain the variable phenotypes and hemihypertrophy often observed in BWS.

What Exactly (If Anything) Is Wrong with Paternalism towards Children?

Science.gov (United States)

Drerup, Johannes

2017-01-01

Theoretical and practical issues concerning the justification of paternalism towards children are widely debated in a variety of philosophical contexts. The major focus of these debates lies either on questions concerning the general legitimacy of paternalism towards children or on justifications of paternalism in concrete situations involving…

A new case of Beckwith-Wiedemann syndrome with an 11p15 duplication of paternal origin [46,XY,-21,+der(21), t(11;21)(p15.2;q22.3)pat].

Science.gov (United States)

Krajewska-Walasek, M; Gutkowska, A; Mospinek-Krasnopolska, M; Chrzanowska, K

1996-01-01

We present a new case of 11p15 duplication (trisomy 11p15) in a boy (46,XY,-21,+der(21), t(11;21)(p15.2;q22.3)] suffering from Beckwith-Wiedemann syndrome (BWS), whose phenotypically normal father carries a balanced translocation between chromosomes 11 and 21[46,XY, t(11;21)(p15.2;q22.3)]. The paternal grandmother has the same balanced translocation and is also clinically normal. BWS was suspected when the boy was 6 months old because of gigantism, macroglossia, visceromegaly, ear lobe creases and abdominal distention. Apart from the characteristic BWS phenotype, the boy has other features which are almost exclusively observed in 11p trisomy (high forehead with frontal upsweep of hair, wide central nose bridge, slightly beaked nose, chubby cheeks and severe mental retardation). So far, at least eight cases of 11p15 duplication have been described as patients with BWS. In six of these, the duplication was due to inheritance of a translocated or rearranged paternal chromosome. This was also the case in our patient. In the two other previously published cases, the 11p15 duplications were de novo, but in one of these, DNA analysis has subsequently shown that the duplication was of paternal origin. We discuss our observations in relation to the above-mentioned previous cases of 11p15 duplication and the possible role of genomic imprinting in the etiology of BWS.

Paternal and maternal birthweights and the risk of infant preterm birth.

Science.gov (United States)

Klebanoff, Mark A

2008-01-01

Increasing paternal birthweight has been associated with increased risk of fathering a preterm infant, causing speculation that a fetus programmed to grow rapidly can trigger preterm labor. Pregnancies occurring from 1974-1989 among women themselves born in the Danish Perinatal Study (1959-1961) were identified through the Population Register; obstetric records were abstracted. Paternal birthweight was obtained by linking Personal Identification Numbers of the fathers to archived midwifery records. Paternal birthweight was not associated with preterm infants overall. However, there was a significant interaction between paternal and maternal birthweights (P = .003). When the mother weighed less than 3 kg at birth, increasing paternal birthweight was associated with increased occurrence of preterm birth (P for trend = .02); paternal birthweight was unassociated with preterm birth for mothers weighing 3 kg or more at birth (P = .34). When the mother was born small, increasing paternal birthweight was associated with increased risk of preterm birth, suggesting that a fetus growing faster than its mother can accommodate might trigger preterm birth.

Paternal care and litter size coevolution in mammals.

Science.gov (United States)

Stockley, Paula; Hobson, Liane

2016-04-27

Biparental care of offspring occurs in diverse mammalian genera and is particularly common among species with socially monogamous mating systems. Despite numerous well-documented examples, however, the evolutionary causes and consequences of paternal care in mammals are not well understood. Here, we investigate the evolution of paternal care in relation to offspring production. Using comparative analyses to test for evidence of evolutionary associations between male care and life-history traits, we explore if biparental care is likely to have evolved because of the importance of male care to offspring survival, or if evolutionary increases in offspring production are likely to result from the evolution of biparental care. Overall, we find no evidence that paternal care has evolved in response to benefits of supporting females to rear particularly costly large offspring or litters. Rather, our findings suggest that increases in offspring production are more likely to follow the evolution of paternal care, specifically where males contribute depreciable investment such as provisioning young. Through coevolution with litter size, we conclude that paternal care in mammals is likely to play an important role in stabilizing monogamous mating systems and could ultimately promote the evolution of complex social behaviours. © 2016 The Authors.

Early embryonic failure: Expression and imprinted status of candidate genes on human chromosome 21

Energy Technology Data Exchange (ETDEWEB)

Sherman, L.S.; Bennett, P.R.; Moore, G.E. [Queen Charlotte`s and Chelsea Hospital, London (United Kingdom)

1994-09-01

Two cases of maternal uniparental (hetero)disomy for human chromosome 21 (mUPD21) have been identified in a systematic search for UPD in 23 cases of early embryonic failure (EEF). Bi-parental origin of the other chromosome pairs was confirmed using specific VNTR probes or dinucleotide repeat analysis. Both maternally and paternally derived isochromosomes 21q have previously been identified in two individuals with normal phenotypes. Full UPD21 has a different mechanism of origin than uniparental isochromosome 21q and its effect on imprinted genes and phenotypic outcome will therefore not necessarily be the same. EEF associated with mUPD21 suggests that developmentally important genes on HSA 21 may be imprinted such that they are only expressed from either the maternally or paternally derived alleles. We have searched for monoallelic expression of candidate genes on HSA 21 in human pregnancy (CBS, IFNAR, COL6A1) using intragenic DNA polymorphisms. These genes were chosen either because their murine homologues lie in imprinted regions or because they are potentially important in embryogenesis. Once imprinted candidate genes have been identified, their methylation status and expression in normal, early embryonic failure and uniparental disomy 21 pregnancies will be studied. At the same time, a larger number of cases of EEF are being examined to further investigate the incidence of UPD21 in this group.

Paternal identity impacts embryonic development for two species of freshwater fish

DEFF Research Database (Denmark)

Siddique, Mohammad Abdul Momin; Linhart, Otomar; Krejszeff, Sławomir

2017-01-01

then partition variation in embryonic phenotypic performance to maternal, paternal, and parental interactions using the Restricted Maximum Likelihood (REML) model. Results showed that paternal, maternal, and the paternal. ×. maternal interaction terms were highly significant for both species; clearly......Paternal, compared to maternal, contributions were believed to have only a limited influence on embryonic development and larval fitness traits in fishes. Therefore, the perspective of male influence on early life history traits has come under scrutiny. This study was conducted to determine...... demonstrating that certain family combinations were more compatible than others. Paternal effects explained 20.24% of the total variance, which was 2-fold higher than the maternal effects (10.73%) in Ide, while paternal effects explained 18.9% of the total variance, which was 15-fold higher than the maternal...

Vertically transmitted rhabdoviruses are found across three insect families and have dynamic interactions with their hosts.

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Longdon, Ben; Day, Jonathan P; Schulz, Nora; Leftwich, Philip T; de Jong, Maaike A; Breuker, Casper J; Gibbs, Melanie; Obbard, Darren J; Wilfert, Lena; Smith, Sophia C L; McGonigle, John E; Houslay, Thomas M; Wright, Lucy I; Livraghi, Luca; Evans, Luke C; Friend, Lucy A; Chapman, Tracey; Vontas, John; Kambouraki, Natasa; Jiggins, Francis M

2017-01-25

A small number of free-living viruses have been found to be obligately vertically transmitted, but it remains uncertain how widespread vertically transmitted viruses are and how quickly they can spread through host populations. Recent metagenomic studies have found several insects to be infected with sigma viruses (Rhabdoviridae). Here, we report that sigma viruses that infect Mediterranean fruit flies (Ceratitis capitata), Drosophila immigrans, and speckled wood butterflies (Pararge aegeria) are all vertically transmitted. We find patterns of vertical transmission that are consistent with those seen in Drosophila sigma viruses, with high rates of maternal transmission, and lower rates of paternal transmission. This mode of transmission allows them to spread rapidly in populations, and using viral sequence data we found the viruses in D. immigrans and C. capitata had both recently swept through host populations. The viruses were common in nature, with mean prevalences of 12% in C. capitata, 38% in D. immigrans and 74% in P. aegeria We conclude that vertically transmitted rhabdoviruses may be widespread in a broad range of insect taxa, and that these viruses can have dynamic interactions with their hosts. © 2017 The Authors.

Vertically transmitted rhabdoviruses are found across three insect families and have dynamic interactions with their hosts

Science.gov (United States)

Day, Jonathan P.; Schulz, Nora; Leftwich, Philip T.; de Jong, Maaike A.; Wilfert, Lena; Smith, Sophia C. L.; McGonigle, John E.; Houslay, Thomas M.; Livraghi, Luca; Evans, Luke C.; Friend, Lucy A.; Vontas, John; Kambouraki, Natasa

2017-01-01

A small number of free-living viruses have been found to be obligately vertically transmitted, but it remains uncertain how widespread vertically transmitted viruses are and how quickly they can spread through host populations. Recent metagenomic studies have found several insects to be infected with sigma viruses (Rhabdoviridae). Here, we report that sigma viruses that infect Mediterranean fruit flies (Ceratitis capitata), Drosophila immigrans, and speckled wood butterflies (Pararge aegeria) are all vertically transmitted. We find patterns of vertical transmission that are consistent with those seen in Drosophila sigma viruses, with high rates of maternal transmission, and lower rates of paternal transmission. This mode of transmission allows them to spread rapidly in populations, and using viral sequence data we found the viruses in D. immigrans and C. capitata had both recently swept through host populations. The viruses were common in nature, with mean prevalences of 12% in C. capitata, 38% in D. immigrans and 74% in P. aegeria. We conclude that vertically transmitted rhabdoviruses may be widespread in a broad range of insect taxa, and that these viruses can have dynamic interactions with their hosts. PMID:28100819

Birth outcomes after preconception paternal exposure to methotrexate

DEFF Research Database (Denmark)

Winter, Rachel W; Larsen, Michael Due; Magnussen, Bjarne

2017-01-01

BACKGROUND: Methotrexate (MTX), a folic acid antagonist, is often prescribed for moderate to severe inflammatory related diseases. The safety of paternal MTX use prior to conception is unknown. This study, using the National Danish Registries, aimed to examine the association between paternal MTX...

Libertarian Paternalism Is Not an Oxymoron

OpenAIRE

Sunstein, Cass Robert

2003-01-01

The idea of libertarian paternalism might seem to be an oxymoron, but it is both possible and legitimate for private and public institutions to affect behavior while also respecting freedom of choice. Often people’s preferences are ill-formed, and their choices will inevitably be influenced by default rules, framing effects, and starting points. In these circumstances, a form of paternalism cannot be avoided. Equipped with an understanding of behavioral findings of bounded rationality and bou...

Prenatal Diagnosis of 4p and 4q Subtelomeric Microdeletion in De Novo Ring Chromosome 4

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Halit Akbas

2013-01-01

Full Text Available Ring chromosomes are unusual abnormalities that are observed in prenatal diagnosis. A 23-year-old patient (gravida 1, para 0 referred for amniocentesis due to abnormal maternal serum screening result in the 16th week of second pregnancy. Cytogenetic analysis of cultured amniyotic fluid cells revealed out ring chromosome 4. Both maternal and paternal karyotypes were normal. Terminal deletion was observed in both 4p and 4q arms of ring chromosome 4 by fluorescence in situ hybridization (FISH. However deletion was not observed in the WHS critical region of both normal and ring chromosome 4 by an additional FISH study. These results were confirmed by means of array-CGH showing terminal deletions on 4p16.3 (130 kb and 4q35.2 (2.449 Mb. In the 21th week of pregnancy, no gross anomalia, except two weeks symmetric growth retardation, was present in the fetal ultrasonographic examination. According to our review of literature, this is the first prenatal case with 4p and 4q subtelomeric deletion of ring chromosome 4 without the involvement of WHS critical region. Our report describes the prenatal case with a ring chromosome 4 abnormality completely characterized by array-CGH which provided complementary data for genetic counseling of prenatal diagnosis.

Prenatal diagnosis of 4p and 4q subtelomeric microdeletion in de novo ring chromosome 4.

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Akbas, Halit; Cine, Naci; Erdemoglu, Mahmut; Atay, Ahmet Engin; Simsek, Selda; Turkyilmaz, Aysegul; Fidanboy, Mehmet

2013-01-01

Ring chromosomes are unusual abnormalities that are observed in prenatal diagnosis. A 23-year-old patient (gravida 1, para 0) referred for amniocentesis due to abnormal maternal serum screening result in the 16th week of second pregnancy. Cytogenetic analysis of cultured amniyotic fluid cells revealed out ring chromosome 4. Both maternal and paternal karyotypes were normal. Terminal deletion was observed in both 4p and 4q arms of ring chromosome 4 by fluorescence in situ hybridization (FISH). However deletion was not observed in the WHS critical region of both normal and ring chromosome 4 by an additional FISH study. These results were confirmed by means of array-CGH showing terminal deletions on 4p16.3 (130 kb) and 4q35.2 (2.449 Mb). In the 21th week of pregnancy, no gross anomalia, except two weeks symmetric growth retardation, was present in the fetal ultrasonographic examination. According to our review of literature, this is the first prenatal case with 4p and 4q subtelomeric deletion of ring chromosome 4 without the involvement of WHS critical region. Our report describes the prenatal case with a ring chromosome 4 abnormality completely characterized by array-CGH which provided complementary data for genetic counseling of prenatal diagnosis.

The making and breaking of paternity secrets in donor insemination.

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Turney, Lyn

2010-07-01

This paper analyses the complex issues faced by regulators of the infertility treatment industry in response to the social and technological changes that heralded a new openness in knowledge about genetics, paternity and the concomitant need for donor offspring to know their genetic origins. The imperative for full information about their donor and biological father, who contributed to their creation and half of their genome, was an outcome unanticipated by the architects of the donor insemination programme. Genetic paternity testing realised the possibility of fixed and certain knowledge about paternity. This paper outlines medicine's role in the formation of normative families through the use of donor insemination. Extending information from an Australian study on the use of DNA paternity testing, it analyses what the social and scientific changes that have emerged and gained currency in the last several decades mean for the new 'openness' and the role of paternity testing in this context. It concludes with recommendations about how to deal with the verification of paternity in linking donor conceived adult children to their donor.

Evidence for paternal leakage in hybrid periodical cicadas (Hemiptera: Magicicada spp..

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Kathryn M Fontaine

2007-09-01

Full Text Available Mitochondrial inheritance is generally assumed to be maternal. However, there is increasing evidence of exceptions to this rule, especially in hybrid crosses. In these cases, mitochondria are also inherited paternally, so "paternal leakage" of mitochondria occurs. It is important to understand these exceptions better, since they potentially complicate or invalidate studies that make use of mitochondrial markers. We surveyed F1 offspring of experimental hybrid crosses of the 17-year periodical cicadas Magicicada septendecim, M. septendecula, and M. cassini for the presence of paternal mitochondrial markers at various times during development (1-day eggs; 3-, 6-, 9-week eggs; 16-month old 1st and 2nd instar nymphs. We found evidence of paternal leakage in both reciprocal hybrid crosses in all of these samples. The relative difficulty of detecting paternal mtDNA in the youngest eggs and ease of detecting leakage in older eggs and in nymphs suggests that paternal mitochondria proliferate as the eggs develop. Our data support recent theoretical predictions that paternal leakage may be more common than previously estimated.

Evidence for paternal leakage in hybrid periodical cicadas (Hemiptera: Magicicada spp.).

Science.gov (United States)

Fontaine, Kathryn M; Cooley, John R; Simon, Chris

2007-09-12

Mitochondrial inheritance is generally assumed to be maternal. However, there is increasing evidence of exceptions to this rule, especially in hybrid crosses. In these cases, mitochondria are also inherited paternally, so "paternal leakage" of mitochondria occurs. It is important to understand these exceptions better, since they potentially complicate or invalidate studies that make use of mitochondrial markers. We surveyed F1 offspring of experimental hybrid crosses of the 17-year periodical cicadas Magicicada septendecim, M. septendecula, and M. cassini for the presence of paternal mitochondrial markers at various times during development (1-day eggs; 3-, 6-, 9-week eggs; 16-month old 1st and 2nd instar nymphs). We found evidence of paternal leakage in both reciprocal hybrid crosses in all of these samples. The relative difficulty of detecting paternal mtDNA in the youngest eggs and ease of detecting leakage in older eggs and in nymphs suggests that paternal mitochondria proliferate as the eggs develop. Our data support recent theoretical predictions that paternal leakage may be more common than previously estimated.

26 CFR 1.410(a)-9 - Maternity and paternity absence.

Science.gov (United States)

2010-04-01

... 26 Internal Revenue 5 2010-04-01 2010-04-01 false Maternity and paternity absence. 1.410(a)-9... Maternity and paternity absence. (a) Elapsed time—(1) Rule. For purposes of applying the rules of § 1.410(a...)(5)(E) and 411(a)(6)(E) (relating to maternity or paternity absence), the severance from service date...

Theory of Patronized Goods. Liberal Evolution of Paternalism

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Rubinstein Aleksandr Yakovlevich

2016-06-01

Full Text Available The neo-classical principles of rational behavior are considered in the context of the nature of paternalism as the basis of the Theory of patronized goods. The formation of society’s normative interests is discussed in concern of political aspects. The article illustrates the theoretical and the practical aspects of the concept of consociation democracy, providing liberalization of the institutions for making political and economic decisions. The results of analysis reveal a pattern of paternalism drifting towards institutional liberalization. Proposed a hypothesis explaining why the economic policy in modern Russia still remains somewhere between archaic and merit paternalism.

Who wants paternalism?

DEFF Research Database (Denmark)

Pedersen, Sofie Kragh; Koch, Alexander Karl; Nafziger, Julia

these problems, or because people with good self-control want those who lack it to change their behaviors. We find no evidence linking self-control to attitudes towards weak forms of paternalism (e.g. nudges or information about health consequences). But respondents with good selfcontrol are significantly more...

Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18.

Science.gov (United States)

Kariminejad, Ariana; Kariminejad, Roxana; Moshtagh, Azadeh; Zanganeh, Maryam; Kariminejad, Mohammad Hassan; Neuenschwander, Stefan; Okoniewski, Michal; Wey, Eva; Schinzel, Albert; Baumer, Alessandra

2011-05-01

In this study, we report a familial inversion of chromosome 18, inv(18)(p11.31q21.33), in both members of a consanguineous couple. Their first child had inherited one balanced pericentric inversion along with a recombinant chromosome 18 resulting in dup(18q)/del(18p), and had mild dysmorphic features in the absence of mental and developmental retardation. The second child had received two recombinant chromosomes 18, from the mother a derivative chromosome 18 with dup(18p)/del(18q) and from the father a derivative chromosome 18 with dup(18q)/del(18p). The aberration was prenatally detected; however, as the two opposite aneuploidies were thought to compensate each other, the family decided to carry on with the pregnancy, knowing that uniparental disomy for the segments outside the inversion could have an adverse influence on the development of the child. Uniparental disomy was confirmed by SNP arrays. The child, who has been followed up until the age of 20 months, is healthy and normal. It seems to be the first reported case with two opposite recombinant chromosomes that compensate each other and lead to segmental uniparental disomy for two segments on the chromosome, one maternal and the other paternal.

Paternity tests in Mexico: Results obtained in 3005 cases.

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García-Aceves, M E; Romero Rentería, O; Díaz-Navarro, X X; Rangel-Villalobos, H

2018-04-01

National and international reports regarding the paternity testing activity scarcely include information from Mexico and other Latin American countries. Therefore, we report different results from the analysis of 3005 paternity cases analyzed during a period of five years in a Mexican paternity testing laboratory. Motherless tests were the most frequent (77.27%), followed by trio cases (20.70%); the remaining 2.04% included different cases of kinship reconstruction. The paternity exclusion rate was 29.58%, higher but into the range reported by the American Association of Blood Banks (average 24.12%). We detected 65 mutations, most of them involving one-step (93.8% and the remaining were two-step mutations (6.2%) thus, we were able to estimate the paternal mutation rate for 17 different STR loci: 0.0018 (95% CI 0.0005-0.0047). Five triallelic patterns and 12 suspected null alleles were detected during this period; however, re-amplification of these samples with a different Human Identification (HID) kit confirmed the homozygous genotypes, which suggests that most of these exclusions actually are one-step mutations. HID kits with ≥20 STRs detected more exclusions, diminishing the rate of inconclusive results with isolated exclusions (Powerplex 21 kit (20 STRs) and Powerplex Fusion kit (22 STRs) offered similar PI (p = 0.379) and average number of exclusions (PE) (p = 0.339) when a daughter was involved in motherless tests. In brief, besides to report forensic parameters from paternity tests in Mexico, results describe improvements to solve motherless paternity tests using HID kits with ≥20 STRs instead of one including 15 STRs. Copyright © 2018 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

Chromosome polymorphism in a population of ceratitis capitata

International Nuclear Information System (INIS)

Lifschitz, E.

1987-08-01

A morphological chromosomal polymorphism along with the observation of B chromosomes in a natural population of Ceratitis capitata is reported. A variability affecting the centromere size of chromosome 3 is described. The observed B chromosome is minute, heterochromatic and telocentric. The B chromosome was found in the male and female germ cells and it exhibited, in the males, intra-individual numerical variation with OB and IB cells, which suggested a mitotic instability. It was also found, in both sexes, in somatic cells (cerebral ganglia tissue). Only males transmitted the B chromosomes to the progeny. The high rate of transmission suggested a differential utilization of the sperm carrying the B chromosomes or a preferential segregation into secondary spermatocytes. Previously reported linkage relationship between a pupal esterase gene (Est-1) and a pupa colour mutant (nig) has been extended to a line carrying a Y-chromosome (Y,B) shorter than the one previously studied (Y,A). Furthermore, an elaborate crossing scheme has been devised in order to estimate the recombination distances between these two genes and a third one affecting pupal length (lp-1). It is concluded that all three genes are in the same linkage group but Est-1 is far from the other two. In turn, nig and lp-1 are separated by 14.9 map units. It is confirmed that genetic recombination does not regularly occur at high frequency in the male and this frequency is not increased by the varying length of the Y-chromosome. Refs, figs, tabs

Factors Associated with Perceived Paternal Involvement in Childrearing.

Science.gov (United States)

Sanderson, Susan; Thompson, Vetta L. Sanders

2002-01-01

Surveyed African American and white fathers living with their young children and the children's mothers regarding variables associated with perceived paternal involvement in child care. Results indicated that ethnicity, gender role orientation, and perceived skill at child care related to higher levels of perceived paternal engagement in and…

Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies

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Hoogeboom A Jeannette M

2010-07-01

Full Text Available Abstract Background Several cases have been reported of patients with a ring chromosome 18 replacing one of the normal chromosomes 18. Less common are patients with a supernumerary ring chromosomes 18. High resolution whole genome examination in patients with multiple congenital abnormalities might reveal cytogenetic abnormalities of an unexpected complexity. Results We report a 24 years old male patient with lower spinal anomalies, hypospadia, bifid scrotum, cryptorchism, anal atresia, kidney stones, urethra anomalies, radial dysplasia, and a hypoplastic thumb. Some of the anomalies overlap with the VACTERL association. Chromosome analysis of cultured peripheral blood lymphocytes revealed an additional ring chromosome in 13% of the metaphases. Both parents had a normal karyotype, demonstrating the de novo origin of this ring chromosome. FISH analysis using whole chromosome paints showed that the additional chromosomal material was derived from chromosome 18. Chromosome analysis of cultured fibroblasts revealed only one cell with the supernumerary ring chromosome in the 400 analyzed. To characterize the ring chromosome in more detail peripheral blood derived DNA was analyzed using SNP-arrays. The array results indicated a 5 Mb gain of the pericentromeric region of chromosome 18q10-q11.2. FISH analysis using BAC-probes located in the region indicated the presence of 6 signals on the r(18 chromosome. In addition, microsatellite analysis demonstrated that the unique supernumerary ring chromosome was paternally derived and both normal copies showed biparental disomy. Conclusions We report on an adult patient with multiple congenital abnormalities who had in 13% of his cells a unique supernumerary ring chromosome 18 that was composed of 6 copies of the 5 Mb gene rich region of 18q11.

Prader-Willi-like phenotypes: a systematic review of their chromosomal abnormalities.

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Rocha, C F; Paiva, C L A

2014-03-31

Prader-Willi syndrome (PWS) is caused by the lack of expression of genes located on paternal chromosome 15q11-q13. This lack of gene expression may be due to a deletion in this chromosomal segment, to maternal uniparental disomy of chromosome 15, or to a defect in the imprinting center on 15q11-q13. PWS is characterized by hypotonia during the neonatal stage and in childhood, accompanied by a delay in neuropsychomotor development. Overeating, obesity, and mental deficiency arise later on. The syndrome has a clinical overlap with other diseases, which makes it difficult to accurately diagnose. The purpose of this article is to review the Prader-Willi-like phenotype in the scientific literature from 2000 to 2013, i.e., to review the cases of PWS caused by chromosomal abnormalities different from those found on chromosome 15. A search was carried out using the "National Center for Biotechnology Information" (www.pubmed.com) and "Scientific Electronic Library Online (www.scielo.br) databases and combinations of key words such as "Prader-Willi-like phenotype" and "Prader-Willi syndrome phenotype". Editorials, letters, reviews, and guidelines were excluded. Articles chosen contained descriptions of patients diagnosed with the PWS phenotype but who were negative for alterations on 15q11-q13. Our search found 643 articles about PWS, but only 14 of these matched with the Prader-Willi-like phenotype and with the selected years of publication (2000-2013). If two or more articles reported the same chromosomal alterations for Prader-Willi-like phenotype, the most recent was chosen. Twelve articles of 14 were case reports and 2 reported series of cases.

A History of the Discovery of Random X Chromosome Inactivation in the Human Female and its Significance

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Sophia Balderman

2011-07-01

Full Text Available Genetic determinants of sex in placental mammals developed by the evolution of primordial autosomes into the male and female sex chromosomes. The Y chromosome determines maleness by the action of the gene SRY, which encodes a protein that initiates a sequence of events prompting the embryonic gonads to develop into testes. The X chromosome in the absence of a Y chromosome results in a female by permitting the conversion of the embryonic gonads into ovaries. We trace the historical progress that resulted in the discovery that one X chromosome in the female is randomly inactivated in early embryogenesis, accomplishing approximate equivalency of X chromosome gene dosage in both sexes. This event results in half of the somatic cells in a tissue containing proteins encoded by the genes of the maternal X chromosome and half having proteins encoded by the genes of the paternal X chromosome, on average, accounting for the phenotype of a female heterozygote with an X chromosome mutation. The hypothesis of X chromosome inactivation as a random event early in embryogenesis was first described as a result of studies of variegated coat color in female mice. Similar results were found in women using the X chromosome-linked gene, glucose-6-phosphate dehydrogenase, studied in red cells. The random inactivation of the X chromosome-bearing genes for isoenzyme types A and B of glucose-6-phosphate dehydrogenase was used to establish the clonal origin of neoplasms in informative women with leiomyomas. Behind these discoveries are the stories of the men and women scientists whose research enlightened these aspects of X chromosome function and their implication for medicine.

[Effect of paternity leave on maternal postpartum depression].

Science.gov (United States)

Séjourné, N; Beaumé, M; Vaslot, V; Chabrol, H

2012-06-01

The aim of this study was to explore the role of the paternity leave in the appearance of the maternal postpartum depression. Fifty-one couples took part in the whole study. Between the second and the fifth day after the childbirth, the mother completed the Edinburgh Postnatal Depression Scale (EPDS), which measures the symptoms of depression and the Multidimensional Scale of Perceived Social Support (MSPSS) which measures the social support the mother has become. The father completed the EPDS. Two months and then the second time four months after the childbirth, the mother received the EPDS, the MSPSS, and questionnaires measuring the temperament of the baby, the maternal skills, the feeling of being a mother and the quality of life postpartum. In order to evaluate the paternal involvement, the father completed the EPDS and questions about paternal skills and involvement. The paternity leave seemed not to have any consequences on the results at the EPDS or other questionnaires. However, lack of paternal involvement was a significant predictor of the intensity of the depressive symptoms of the mothers. It is not the presence of the father wich seems important to take into account for detection and the traitement of postpatum depression but his participation in the care of the baby. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

Arrangement of nuclear structures is not transmitted through mitosis but is identical in sister cells

NARCIS (Netherlands)

Orlova, Darya Yu; Stixová, Lenka; Kozubek, Stanislav; Gierman, Hinco J.; Šustáčková, Gabriela; Chernyshev, Andrei V.; Medvedev, Ruslan N.; Legartová, Soňa; Versteeg, Rogier; Matula, Pavel; Stoklasa, Roman; Bártová, Eva

2012-01-01

Although it is well known that chromosomes are non-randomly organized during interphase, it is not completely clear whether higher-order chromatin structure is transmitted from mother to daughter cells. Therefore, we addressed the question of how chromatin is rearranged during interphase and whether

Konference Fathers and Paternity Leave: Men Do It

Czech Academy of Sciences Publication Activity Database

Maříková, Hana

2006-01-01

Roč. 42, č. 14 (2006), s. 833-835 ISSN 0038-0288. [Fathers and Paternity Leave: Men Do It] R&D Projects: GA AV ČR IAA700280504 Institutional research plan: CEZ:AV0Z70280505 Keywords : parental leave * paternity leave * fathering Subject RIV: AO - Sociology, Demography Impact factor: 0.128, year: 2006

Who's your daddy?: paternal inheritance of metabolic disease risk.

Science.gov (United States)

Isganaitis, Elvira; Suehiro, Harumi; Cardona, Connie

2017-02-01

Although the importance of optimizing mothers' health prior to conception and during pregnancy is now well accepted, recent data also implicate health and nutritional status of fathers as contributors to chronic disease risk in their progeny. This brief review will highlight recent epidemiological and experimental studies linking paternal overnutrition, undernutrition, and other forms of stress, to metabolic disease in the offspring. The past 2 years have brought tremendous insights into the mechanisms by which paternal exposures can contribute to disease susceptibility in the next generation. Recent data, both from humans and experimental models, demonstrate that paternal obesity and undernutrition result in epigenetic reprogramming of male germ cells, notably altered DNA methylation, histone retention, and expression of small noncoding RNAs and transfer RNA fragments. Novel mechanisms have also been identified, such as epididymal transport vesicles, seminal fluid hormones and metabolites, and a unique seminal fluid microbiome. Paternal nutritional and other perturbations are linked to risk of metabolic disease and obesity in offspring. Germ cell-dependent mechanisms have recently been linked to these intergenerational effects. Nongenetic, paternal inheritance of chronic disease has important implications for public health, and may provide novel opportunities for multigenerational disease prevention.

The effect of paternal factors on perinatal and paediatric outcomes

DEFF Research Database (Denmark)

Oldereid, Nan B; Wennerholm, Ulla-Britt; Pinborg, Anja

2018-01-01

BACKGROUND: Maternal factors, including increasing childbearing age and various life-style factors, are associated with poorer short- and long-term outcomes for children, whereas knowledge of paternal parameters is limited. Recently, increasing paternal age has been associated with adverse obstet...... IMPLICATIONS: Although the increased risks of adverse outcome in offspring associated with paternal factors and identified in this report represent serious health effects, the magnitude of these effects seems modest....

Noninvasive prenatal paternity testing (NIPAT) through maternal plasma DNA sequencing

DEFF Research Database (Denmark)

Jiang, Haojun; Xie, Yifan; Li, Xuchao

2016-01-01

developed a noninvasive prenatal paternity testing (NIPAT) based on SNP typing with maternal plasma DNA sequencing. We evaluated the influence factors (minor allele frequency (MAF), the number of total SNP, fetal fraction and effective sequencing depth) and designed three different selective SNP panels......Short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs) have been already used to perform noninvasive prenatal paternity testing from maternal plasma DNA. The frequently used technologies were PCR followed by capillary electrophoresis and SNP typing array, respectively. Here, we...... paternity test using STR multiplex system. Our study here proved that the maternal plasma DNA sequencing-based technology is feasible and accurate in determining paternity, which may provide an alternative in forensic application in the future....

Multiple paternity in the cultured yellow pond turtles (Mauremys mutica).

Science.gov (United States)

Zhang, Xin-Cheng; Zhao, Jian; Li, Wei; Wei, Cheng-Qing; Zhu, Xin-Ping

2017-08-01

As a result of hunting and habitat loss, wild populations of the yellow pond turtle, Mauremys mutica, are decreasing. The International Union for Conservation of Nature considers M. mutica to be an endangered species. All studied freshwater turtles have polyandrous mating with multiple paternity. To survey the mating strategies of M. mutica, 1year's genetic data of parents and all offspring in an artificially captive population were analyzed. Two groups of multiplex PCR containing 16 microsatellite loci were used to analyze the paternity of 302 hatchlings from 132 parents and from 159 clutches. The genetic data indicated that multiple paternity is rare in M. mutica, occurring in only seven of 138 clutches. Although the frequency of multiple paternity was only 5.07%, results of the present research indicate that M. mutica has a polyandrous mating system. In the breeding season, the successive clutches of 34 females each had the same paternity as the previous clutches. It was observed that four males (f85, f58, f87, and f76) had more than 20 offspring each, totaling 99 and representing 32.78% of all offspring. This finding implies that paternity is competitive in this artificially captive population and might bias the genetic diversity of the offspring. Copyright © 2017 Elsevier B.V. All rights reserved.

Paternal ADHD Symptoms and Child Conduct Problems: Is Father Involvement Always Beneficial?

Science.gov (United States)

Romirowsky, Abigail Mintz; Chronis-Tuscano, Andrea

2013-01-01

Background Maternal psychopathology robustly predicts poor developmental and treatment outcomes for children with attention-deficit/hyperactivity disorder (ADHD). Despite the high heritability of ADHD, few studies have examined associations between paternal ADHD symptoms and child adjustment, and none have also considered degree of paternal involvement in childrearing. Identification of modifiable risk factors for child conduct problems is particularly important in this population given the serious adverse outcomes resulting from this comorbidity. Methods This cross-sectional study examined the extent to which paternal involvement in childrearing moderated the association between paternal ADHD symptoms and child conduct problems among 37 children with ADHD and their biological fathers. Results Neither paternal ADHD symptoms nor involvement was independently associated with child conduct problems. However, the interaction between paternal ADHD symptoms and involvement was significant, such that paternal ADHD symptoms were positively associated with child conduct problems only when fathers were highly involved in childrearing. Conclusions The presence of adult ADHD symptoms may determine whether father involvement in childrearing has a positive or detrimental influence on comorbid child conduct problems. PMID:25250402

Paternal ADHD symptoms and child conduct problems: is father involvement always beneficial?

Science.gov (United States)

Romirowsky, A M; Chronis-Tuscano, A

2014-09-01

Maternal psychopathology robustly predicts poor developmental and treatment outcomes for children with attention-deficit/hyperactivity disorder (ADHD). Despite the high heritability of ADHD, few studies have examined associations between paternal ADHD symptoms and child adjustment, and none have also considered degree of paternal involvement in childrearing. Identification of modifiable risk factors for child conduct problems is particularly important in this population given the serious adverse outcomes resulting from this comorbidity. This cross-sectional study examined the extent to which paternal involvement in childrearing moderated the association between paternal ADHD symptoms and child conduct problems among 37 children with ADHD and their biological fathers. Neither paternal ADHD symptoms nor involvement was independently associated with child conduct problems. However, the interaction between paternal ADHD symptoms and involvement was significant, such that paternal ADHD symptoms were positively associated with child conduct problems only when fathers were highly involved in childrearing. The presence of adult ADHD symptoms may determine whether father involvement in childrearing has a positive or detrimental influence on comorbid child conduct problems.

Paternal influences on adolescent sexual risk behaviors: a structured literature review.

Science.gov (United States)

Guilamo-Ramos, Vincent; Bouris, Alida; Lee, Jane; McCarthy, Katharine; Michael, Shannon L; Pitt-Barnes, Seraphine; Dittus, Patricia

2012-11-01

To date, most parent-based research has neglected the role of fathers in shaping adolescent sexual behavior and has focused on mothers. The objective of this study was to conduct a structured review to assess the role of paternal influence on adolescent sexual behavior and to assess the methodological quality of the paternal influence literature related to adolescent sexual behavior. We searched electronic databases: PubMed, PsychINFO, Social Services Abstracts, Family Studies Abstracts, Sociological Abstracts, and the Cumulative Index to Nursing and Allied Health Literature. Studies published between 1980 and 2011 that targeted adolescents 11 to 18 years and focused on paternal parenting processes were included. Methodological quality was assessed by using an 11-item scoring system. Thirteen articles were identified and reviewed. Findings suggest paternal factors are independently associated with adolescent sexual behavior relative to maternal factors. The most commonly studied paternal influence was emotional qualities of the father-adolescent relationship. Paternal communication about sex was most consistently associated with adolescent sexual behavior, whereas paternal attitudes about sex was least associated. Methodological limitations include a tendency to rely on cross-sectional design, nonprobability sampling methods, and focus on sexual debut versus broader sexual behavior. Existing research preliminarily suggests fathers influence the sexual behavior of their adolescent children; however, more rigorous research examining diverse facets of paternal influence on adolescent sexual behavior is needed. We provide recommendations for primary care providers and public health practitioners to better incorporate fathers into interventions designed to reduce adolescent sexual risk behavior.

Paternal Influences on Adolescent Sexual Risk Behaviors: A Structured Literature Review

Science.gov (United States)

Bouris, Alida; Lee, Jane; McCarthy, Katharine; Michael, Shannon L.; Pitt-Barnes, Seraphine; Dittus, Patricia

2012-01-01

BACKGROUND AND OBJECTIVE: To date, most parent-based research has neglected the role of fathers in shaping adolescent sexual behavior and has focused on mothers. The objective of this study was to conduct a structured review to assess the role of paternal influence on adolescent sexual behavior and to assess the methodological quality of the paternal influence literature related to adolescent sexual behavior. METHODS: We searched electronic databases: PubMed, PsychINFO, Social Services Abstracts, Family Studies Abstracts, Sociological Abstracts, and the Cumulative Index to Nursing and Allied Health Literature. Studies published between 1980 and 2011 that targeted adolescents 11 to 18 years and focused on paternal parenting processes were included. Methodological quality was assessed by using an 11-item scoring system. RESULTS: Thirteen articles were identified and reviewed. Findings suggest paternal factors are independently associated with adolescent sexual behavior relative to maternal factors. The most commonly studied paternal influence was emotional qualities of the father-adolescent relationship. Paternal communication about sex was most consistently associated with adolescent sexual behavior, whereas paternal attitudes about sex was least associated. Methodological limitations include a tendency to rely on cross-sectional design, nonprobability sampling methods, and focus on sexual debut versus broader sexual behavior. CONCLUSIONS: Existing research preliminarily suggests fathers influence the sexual behavior of their adolescent children; however, more rigorous research examining diverse facets of paternal influence on adolescent sexual behavior is needed. We provide recommendations for primary care providers and public health practitioners to better incorporate fathers into interventions designed to reduce adolescent sexual risk behavior. PMID:23071205

Paternal programming of offspring cardiometabolic diseases in later life

Science.gov (United States)

Li, Jian; Tsuprykov, Oleg; Yang, Xiaoping; Hocher, Berthold

2016-01-01

Early – intrauterine – environmental factors are linked to the development of cardiovascular disease in later life. Traditionally, these factors are considered to be maternal factors such as maternal under and overnutrition, exposure to toxins, lack of micronutrients, and stress during pregnancy. However, in the recent years, it became obvious that also paternal environmental factors before conception and during sperm development determine the health of the offspring in later life. We will first describe clinical observational studies providing evidence for paternal programming of adulthood diseases in progeny. Next, we describe key animal studies proving this relationship, followed by a detailed analysis of our current understanding of the underlying molecular mechanisms of paternal programming. Alterations of noncoding sperm micro-RNAs, histone acetylation, and targeted as well as global DNA methylation seem to be in particular involved in paternal programming of offspring's diseases in later life. PMID:27457668

The stress response in gametes and embryos after paternal chemical exposures

International Nuclear Information System (INIS)

Hales, Barbara F.; Aguilar-Mahecha, Adriana; Robaire, Bernard

2005-01-01

There is increasing concern that paternal exposure to toxic chemicals impacts negatively on progeny outcome. Exposure of male rats to a model male-mediated developmental toxicant and anticancer alkylating agent, cyclophosphamide, resulted in increased pre- and post-implantation loss, as well as in malformations. We hypothesize that the stage specificity of the effects of paternal cyclophosphamide exposure on progeny depends on the ability of germ cells to respond to stress, repair DNA or undergo apoptosis. Acute high dose exposure of male rats to cyclophosphamide increased the expression of heat shock proteins and DNA repair genes, predominantly in round spermatids. In contrast, chronic low dose treatment dramatically decreased the expression of stress response genes in pachytene spermatocytes and round spermatids, but not in elongated spermatids; this reduced ability to respond to stress may allow damage to accumulate, resulting in altered sperm function. Increased DNA damage was maximal 3 weeks after drug exposure, during spermiogenesis, a key point in sperm chromatin remodelling. Drug exposure for 9 weeks increased the frequency of spermatozoa with chromosome 4 disomy and nullisomy. DNA damage found in cyclophosphamide-exposed spermatozoa was imparted to the newly fertilized zygote. Drug-exposed spermatozoa decondensed more rapidly than control spermatozoa and male pronuclear formation was earlier. RNA synthesis was higher in 1-cell embryos sired by drug-treated fathers than in controls. Significantly, the profile of gene expression was altered in embryos sired by drug-treated males as early as the 1-cell stage. Thus, exposure of male rats to cyclophosphamide altered male germ cell quality with a consequent temporal and spatial disruption of the zygotic genome activation

Y-chromosomal diversity in Haiti and Jamaica: contrasting levels of sex-biased gene flow.

Science.gov (United States)

Simms, Tanya M; Wright, Marisil R; Hernandez, Michelle; Perez, Omar A; Ramirez, Evelyn C; Martinez, Emanuel; Herrera, Rene J

2012-08-01

Although previous studies have characterized the genetic structure of populations from Haiti and Jamaica using classical and autosomal STR polymorphisms, the patrilineal influences that are present in these countries have yet to be explored. To address this lacuna, the current study aims to investigate, for the first time, the potential impact of different ancestral sources, unique colonial histories, and distinct family structures on the paternal profile of both groups. According to previous reports examining populations from the Americas, island-specific demographic histories can greatly impact population structure, including various patterns of sex-biased gene flow. Also, given the contrasting autosomal profiles provided in our earlier study (Simms et al.: Am J Phys Anthropol 142 (2010) 49-66), we hypothesize that the degree and directionality of gene flow from Europeans, Africans, Amerindians, and East Asians are dissimilar in the two countries. To test this premise, 177 high-resolution Y-chromosome binary markers and 17 Y-STR loci were typed in Haiti (n = 123) and Jamaica (n = 159) and subsequently utilized for phylogenetic comparisons to available reference collections encompassing Africa, Europe, Asia (East and South), and the New World. Our results reveal that both studied populations exhibit a predominantly South-Saharan paternal component, with haplogroups A1b-V152, A3-M32, B2-M182, E1a-M33, E1b1a-M2, E2b-M98, and R1b2-V88 comprising 77.2% and 66.7% of the Haitian and Jamaican paternal gene pools, respectively. Yet, European derived chromosomes (i.e., haplogroups G2a*-P15, I-M258, R1b1b-M269, and T-M184) were detected at commensurate levels in Haiti (20.3%) and Jamaica (18.9%), whereas Y-haplogroups indicative of Chinese [O-M175 (3.8%)] and Indian [H-M69 (0.6%) and L-M20 (0.6%)] ancestry were restricted to Jamaica. Copyright © 2012 Wiley Periodicals, Inc.

Multiple paternity and hybridization in two smooth-hound sharks.

Science.gov (United States)

Marino, Ilaria A M; Riginella, Emilio; Gristina, Michele; Rasotto, Maria B; Zane, Lorenzo; Mazzoldi, Carlotta

2015-08-10

Multiple paternity appears to be a common trait of elasmobranch mating systems, with its occurrence likely driven by convenience, due to females seeking to minimize the stress of male harassment. Here we use molecular markers to analyse the frequency of multiple paternity in two related viviparous sharks, Mustelus mustelus and Mustelus punctulatus. We first applied molecular methods to assign pregnant females, embryos and additional reference adults (N = 792) to one of the two species. Paternity analysis was performed using a total of 9 polymorphic microsatellites on 19 females and 204 embryos of M. mustelus, and on 13 females and 303 embryos of M. punctulatus. Multiple paternity occurs in both species, with 47% of M. mustelus and 54% of M. punctulatus litters sired by at least two fathers. Female fecundity is not influenced by multiple mating and in 56% of polyandrous litters paternity is skewed, with one male siring most of the pups. Genetic analyses also revealed hybridization between the two species, with a M. punctulatus female bearing pups sired by a M. mustelus male. The frequency of polyandrous litters in these species is consistent with aspects of their reproductive biology, such as synchronous ovulation and possible occurrence of breeding aggregations.

Economics of paternalism: the hidden costs of self-commanding strategies

Directory of Open Access Journals (Sweden)

Christophe Salvat

2015-11-01

Full Text Available The paper proposes an economic assessment of paternalism by comparing different alternative responses to dynamically inconsistent behaviors consecutive to hyperbolic discounting. Two main types of action are possible, self-commanding strategies and paternalism The first category includes personal rules and pre-commitment The second can be subcategorized between coercive and non-coercive forms of paternalism, which are respectively associated (although it is debatable with legal paternalism and with ‘nudges’. Despite being self-inflicted, self-commanding strategies are actually not cost free and can result in a dramatic cutback of people’s freedom of choice. Likewise, legal paternalism can, on occasion, be less harmful than personal rules or pre-commitment; similarly, nudges can be more invasive and less effective than their proponents want us to believe. The aim of this paper is not to propose any standardized form of response to irrational behavior (whatever that may mean but to argue, on the contrary, that every case should be individually appraised. Individual situations can be remedied by self-commanding strategies or by paternalistic policies, either in isolation or in combination.

Conversion and non-conversion approach to preimplantation diagnosis for chromosomal rearrangements in 475 cycles.

Science.gov (United States)

Kuliev, Anver; Janzen, Jeanine Cieslak; Zlatopolsky, Zev; Kirillova, Irina; Ilkevitch, Yury; Verlinsky, Yury

2010-07-01

Due to the limitations of preimplantation genetic diagnosis (PGD) for chromosomal rearrangements by interphase fluorescent in-situ hybridization (FISH) analysis, a method for obtaining chromosomes from single blastomeres was introduced by their fusion with enucleated or intact mouse zygotes, followed by FISH analysis of the resulting heterokaryons. Although this allowed a significant improvement in the accuracy of testing of both maternally and paternally derived translocations, it is still labour intensive and requires the availability of fertilized mouse oocytes, also creating ethical issues related to the formation of interspecies heterokaryons. This method was modified with a chemical conversion procedure that has now been clinically applied for the first time on 877 embryos from PGD cycles for chromosomal rearrangements and has become the method of choice for performing PGD for structural rearrangements. This is presented within the context of overall experience of 475 PGD cycles for translocations with pre-selection and transfer of balanced or normal embryos in 342 (72%) of these cycles, which resulted in 131 clinical pregnancies (38%), with healthy deliveries of 113 unaffected children. The spontaneous abortion rate in these cycles was as low as 17%, which confirms an almost five-fold reduction of spontaneous abortion rate following PGD for chromosomal rearrangements. 2010 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

Father-Son Inter-Generational Transmission of Authoritarian Paternal Attitudes.

Science.gov (United States)

Peretti, Peter O.; Statum, Jo Ann

1984-01-01

Attempted to determine authoritarian paternal attitude inter-generational transmission in fathers and sons (N=75). Results suggested that authoritarian paternal attitudes could be indicated in terms of five factors: Dominant, Rigidity, Conformity, Intolerant, and Uncreative; and that the sons expressed strongly the authoritarian attitudes of their…

Advancing paternal age and schizophrenia: the impact of delayed fatherhood.

Science.gov (United States)

Ek, Mats; Wicks, Susanne; Svensson, Anna C; Idring, Selma; Dalman, Christina

2015-05-01

It is well known that advancing paternal age is associated with an increased risk of schizophrenia in offspring, but the mechanism behind this association remains unknown. This study investigates if delayed fatherhood rather than advancing paternal age per se might explain the increased risk of schizophrenia in offspring associated with advancing paternal age. This is a register-based study of the Swedish population looking at people born 1955-1985 who have 1 or 2 siblings (n = 2 589 502). The main analysis investigated whether the association between advancing paternal age and schizophrenia was explained by delayed fatherhood. Possible confounding factors were taken into account. Cox regression was used throughout. In the main analysis the association between advancing paternal age and increased risk of schizophrenia in offspring disappeared after controlling for delayed fatherhood (hazard ratio [HR] = 0.93, 95% CI = 0.72-1.21 comparing 45+ years old fathers to those 25-29), whereas delayed fatherhood showed an association with increased risk of schizophrenia in offspring comparing 35-39 and 40-44 years old fathers to 25-29 year olds (HR = 1.37, 95% CI = 1.18-1.58; HR = 1.81, 95% CI = 1.44-2.28, respectively). The results remained when controlling for possible confounders. This study suggests that the association between paternal age and schizophrenia is not due to paternal age per se, but rather to an unknown factor associated with both delayed fatherhood and schizophrenia. © The Author 2014. Published by Oxford University Press on behalf of the Maryland Psychiatric Research Center. All rights reserved. For permissions, please email: journals.permissions@oup.com.

Advanced paternal age and risk of fetal death: a cohort study

DEFF Research Database (Denmark)

Nybo Andersen, Anne-Marie; Hansen, Kasper Daniel; Andersen, Per Kragh

2004-01-01

Cohort from 1997 to 1999 to assess the association between paternal age and fetal death. Fathers of the pregnancies were identified by record linkage to population registers. The paternal age-related risks of fetal death and its components, early and late fetal loss, were estimated using survival......A possible detrimental paternal age effect on offspring health due to mutations of paternal origin should be reflected in an association between paternal age and fetal loss. The authors used data from a prospective study of 23,821 pregnant women recruited consecutively to the Danish National Birth...... analysis. Pregnancies fathered by a man aged 50 or more years (n = 124) had almost twice the risk of ending in a fetal loss compared with pregnancies with younger fathers (hazard ratio = 1.88, 95% confidence interval: 0.93, 3.82), after adjustment for maternal age, reproductive history, and maternal...

No evidence for a paternal interchromosomal effect from analysis of the origin of nondisjunction in Down syndrome patients with concomitant familial chromosome rearrangements.

OpenAIRE

Schinzel, A A; Adelsberger, P A; Binkert, F; Basaran, S; Antonarakis, S E

1992-01-01

The parental origin of the extra chromosome 21 was determined with DNA polymorphisms in seven families in whom the proband and one of the parents carried an additional chromosome rearrangement (balanced translocation or pericentric inversion) not involving chromosome 21. The balanced rearrangement was inherited from the mother in two families and from the father in five families, whereas the additional chromosome 21 was derived from the mother in all seven families. These findings are not in ...

Resolving Questioned Paternity Issues Using a Philippine Genetic Database

Directory of Open Access Journals (Sweden)

Maria Corazon De Ungria

2002-06-01

Full Text Available The utility of the Philippines genetic database consisting of seven Short Tandem Repeat (STR markers for testing of ten questioned paternity cases was investigated. The markers used were HUMvWA, HUMTH01, HUMCSF1PO, HUMFOLP23, D8S306, HUMFES/FPS, and HUMF13A01. These markers had a combined Power of Paternity Exclusion of 99.17%. Due to the gravity of some cases handled in the laboratory, routine procedures must be assessed to determine the capacity of the analysis to exclude a non-father of predict paternity. Clients showed a preference for only testing father and child to lower costs and reduce conflicts, particularly when the mother objects to the conduct of DNA tests, or when she is deceased or cannot be located. The Probability of Paternity was calculated with and without the mother’s profile in each of the cases. In all instances, results were more informative when the mother’s DNA profile was included. Moreover, variations in the allelic distribution of five STR markers among eight Caucasian, one African-American, and two Amerindian (Argentina populations resulted in significant differences in Probability of Paternity estimates compared to those calculated using the Philippine Database.Based on the results of the present study, it is recommended that tests on alleged father-child samples be performed to screen for at least two mismatches. In the absence of theses mismatches, further analysis that includes the mother’s DNA profile is recommended. Moreover, it is recommended that a Philippines genetic database be used for DNA-based paternity testing in the Philippines.

Case-control analysis of paternal age and trisomic anomalies

DEFF Research Database (Denmark)

De Souza, E; Morris, David Jackson; Garne, Ester

2010-01-01

To determine whether older paternal age increases the risk of fathering a pregnancy with Patau (trisomy 13), Edwards (trisomy 18), Klinefelter (XXY) or XYY syndrome.......To determine whether older paternal age increases the risk of fathering a pregnancy with Patau (trisomy 13), Edwards (trisomy 18), Klinefelter (XXY) or XYY syndrome....

Paternal Involvement in Child- Rearing Activities: The Perspective of ...

African Journals Online (AJOL)

In recognition of the need to widen the scope of fatherhood scholarship, this article centered on examining paternal involvement but in a socio- cultural context and developmental stage that has headed little attention in previous research. An attempt was made to investigate the nature of paternal involvement (ways, desires ...

Evolution of monogamy, paternal investment, and female life history in Peromyscus.

Science.gov (United States)

Jašarević, Eldin; Bailey, Drew H; Crossland, Janet P; Dawson, Wallace D; Szalai, Gabor; Ellersieck, Mark R; Rosenfeld, Cheryl S; Geary, David C

2013-02-01

The timing of reproductive development and associated trade-offs in quantity versus quality of offspring produced across the life span are well documented in a wide range of species. The relation of these aspects of maternal life history to monogamy and paternal investment in offspring is not well studied in mammals, due in part to the rarity of the latter. By using five large, captive-bred populations of Peromyscus species that range from promiscuous mating with little paternal investment (P. maniculatus bairdii) to social and genetic monogamy with substantial paternal investment (P. californicus insignis), we modeled the interaction between monogamy and female life history. Monogamy and high paternal investment were associated with smaller litter size, delayed maternal reproduction that extended over a longer reproductive life span, and larger, higher quality offspring. The results suggest monogamy and paternal investment can alter the evolution of female life-history trajectories in mammals. PsycINFO Database Record (c) 2013 APA, all rights reserved

The Y chromosome as the most popular marker in genetic genealogy benefits interdisciplinary research.

Science.gov (United States)

Calafell, Francesc; Larmuseau, Maarten H D

2017-05-01

The Y chromosome is currently by far the most popular marker in genetic genealogy that combines genetic data and family history. This popularity is based on its haploid character and its close association with the patrilineage and paternal inherited surname. Other markers have not been found (yet) to overrule this status due to the low sensitivity and precision of autosomal DNA for genetic genealogical applications, given the vagaries of recombination, and the lower capacities of mitochondrial DNA combined with an in general much lower interest in maternal lineages. The current knowledge about the Y chromosome and the availability of markers with divergent mutation rates make it possible to answer questions on relatedness levels which differ in time depth; from the individual and familial level to the surnames, clan and population level. The use of the Y chromosome in genetic genealogy has led to applications in several well-established research disciplines; namely in, e.g., family history, demography, anthropology, forensic sciences, population genetics and sex chromosome evolution. The information obtained from analysing this chromosome is not only interesting for academic scientists but also for the huge and lively community of amateur genealogists and citizen-scientists, fascinated in analysing their own genealogy or surname. This popularity, however, has also some drawbacks, mainly for privacy reasons related to the DNA donor, his close family and far-related namesakes. In this review paper we argue why Y-chromosomal analysis and its genetic genealogical applications will still perform an important role in future interdisciplinary research.

Divergent Trends in US Maternity and Paternity Leave, 1994-2015.

Science.gov (United States)

Zagorsky, Jay L

2017-03-01

To determine the number and type of US workers taking maternity or paternity leave. We created a publicly available ecological long-term series for measuring parental leave from 1994 to 2015 by using the Current Population Survey, which interviews about 60 000 randomly selected households monthly. The average month from 1994 to 2015 saw 273 000 women and 13 000 men on maternity or paternity leave. Maternity leave rates per 10 000 births showed no trend over 22 years (mean = 677.6). Paternity figures increased by a factor of 3, but started from a small base (14.7-54.6). We observed no national impact on maternity or paternity leave after implementation of state laws that provided paid leave. About half (51.1%) of employees on maternity or paternity leave during 2015 received paid time off. The typical woman on maternity leave was older, more likely married, more likely non-Hispanic White, and more educated than the typical woman who gave birth. Although the US economy has expanded dramatically since 1994, this improvement does not appear to have translated into more women taking maternity leave.

Is advanced paternal age a health risk for the offspring?

DEFF Research Database (Denmark)

Andersen, Anne-Marie Nybo; Urhoj, Stine Kjaer

2017-01-01

consistently associated with increased paternal age are stillbirths, musculo-skeletal syndromes, cleft palate, acute lymphoblastic leukemia and retinoblastoma, and neurodevelopmental disorders in the autism spectrum and schizophrenia. Finally, we consider the public health impact of the increasing paternal age...

Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy

Energy Technology Data Exchange (ETDEWEB)

Cassidy, S.B.; Lai, Li-Wen; Erickson, R.P. (Univ. of Arizona College of Medicine, Tucson, AZ (United States)); Magnuson, L.; Thomas, E.; Herrmann, J. (Great Lakes Genetics, Milwaukee, AZ (United States)); Gendron, R. (Great Lakes Genetics, Kingsport, TN (United States))

1992-10-01

Uniparental disomy has recently been recognized to cause human disorders, including Prader-Willi syndrome (PWS). The authors describe a particularly instructive case which raises important issues concerning the mechanisms producing uniparental disomy and whose evaluation provides evidence that trisomy may precede uniparental disomy in a fetus. Chorionic villus sampling performed for advanced maternal age revealed trisomy 15 in all direct and cultured cells, though the fetus appeared normal. Chromosome analysis of amniocytes obtained at 15 wk was normal in over 100 cells studied. The child was hypotonic at birth, and high-resolution banding failed to reveal the deletion of 15q11-13, a deletion which is found in 50%-70% of patients with PWS. Over time, typical features of PWS developed. Molecular genetic analysis using probes for chromosome 15 revealed maternal disomy. Maternal nondisjunction with fertilization of a disomic egg by a normal sperm, followed by loss of the paternal 15, is a likely cause of confined placental mosaicism and uniparental disomy in this case of PWS, and advanced maternal age may be a predisposing factor. 38 refs., 3 figs., 2 tabs.

What's in a name? Y chromosomes, surnames and the genetic genealogy revolution.

Science.gov (United States)

King, Turi E; Jobling, Mark A

2009-08-01

Heritable surnames are highly diverse cultural markers of coancestry in human populations. A patrilineal surname is inherited in the same way as the non-recombining region of the Y chromosome and there should, therefore, be a correlation between the two. Studies of Y haplotypes within surnames, mostly of the British Isles, reveal high levels of coancestry among surname cohorts and the influence of confounding factors, including multiple founders for names, non-paternities and genetic drift. Combining molecular genetics and surname analysis illuminates population structure and history, has potential applications in forensic studies and, in the form of 'genetic genealogy', is an area of rapidly growing interest for the public.

25 CFR 11.609 - Determination of paternity and support.

Science.gov (United States)

2010-04-01

... OFFENSES AND LAW AND ORDER CODE Domestic Relations § 11.609 Determination of paternity and support. The... 25 Indians 1 2010-04-01 2010-04-01 false Determination of paternity and support. 11.609 Section 11... child and to obtain a judgment for the support of the child. A judgment of the court establishing the...

Cytological maps of lampbrush chromosomes of European water frogs (Pelophylax esculentus complex) from the Eastern Ukraine

Science.gov (United States)

2013-01-01

Background Hybridogenesis (hemiclonal inheritance) is a kind of clonal reproduction in which hybrids between parental species are reproduced by crossing with one of the parental species. European water frogs (Pelophylax esculentus complex) represent an appropriate model for studying interspecies hybridization, processes of hemiclonal inheritance and polyploidization. P. esculentus complex consists of two parental species, P. ridibundus (the lake frog) and P. lessonae (the pool frog), and their hybridogenetic hybrid – P. esculentus (the edible frog). Parental and hybrid frogs can reproduce syntopically and form hemiclonal population systems. For studying mechanisms underlying the maintenance of water frog population systems it is required to characterize the karyotypes transmitted in gametes of parental and different hybrid animals of both sexes. Results In order to obtain an instrument for characterization of oocyte karyotypes in hybrid female frogs, we constructed cytological maps of lampbrush chromosomes from oocytes of both parental species originating in Eastern Ukraine. We further identified certain molecular components of chromosomal marker structures and mapped coilin-rich spheres and granules, chromosome associated nucleoli and special loops accumulating splicing factors. We recorded the dissimilarities between P. ridibundus and P. lessonae lampbrush chromosomes in the length of orthologous chromosomes, number and location of marker structures and interstitial (TTAGGG)n-repeat sites as well as activity of nucleolus organizer. Satellite repeat RrS1 was mapped in centromere regions of lampbrush chromosomes of the both species. Additionally, we discovered transcripts of RrS1 repeat in oocytes of P. ridibundus and P. lessonae. Moreover, G-rich transcripts of telomere repeat were revealed in association with terminal regions of P. ridibundus and P. lessonae lampbrush chromosomes. Conclusions The constructed cytological maps of lampbrush chromosomes of P

Chromosomal instability in the progeny of irradiated parents

International Nuclear Information System (INIS)

Voro btsova, I.E.; Vorobyova, M.V.; Bogomazova, A.N.

1997-01-01

Genomic instability have been demonstrated in irradiated cells as the increased frequency of sporadic chromosome aberrations persisted over multiple generations of cell divisions. We found that chromosomal instability characterized as well the somatic cells of irradiated parents progeny. It means that radiation induced genomic instability can be transmitted via germ line cells. As a measure of instability the sensitivity of chromosomes to radiation was estimated. In animal experiments the irradiation of mature germ cells of male rats (dose - 4.5 Gy of X-rays) increase the frequency of chromosome aberrations induced by challenging irradiation in regenerating hepatocytes, in bone marrow cells and in fetal fibroblasts in the progeny of irradiated male rats. The chromosomal sensitivity of cultivated lymphocytes to in vitro irradiation (1.5 Gy of γ(rays 137 Cs) is increased in the children born parents undergone antitumor radiotherapy or worked as 'liquidators' of Chernobyl accident consequences before conception in comparison to the children of unexposed parents. The cytogenetic radiosensitivity of lymphocytes to irradiation in vitro is also increased in children evacuated from contaminated by radionuclides areas ('positive' control group). The increased spontaneous frequency of chromatid-type acentric was found in all group of children with irradiation history. The instability of genome of irradiated parents progeny seems could be the mechanism of these health effects. (authors)

The Paternal Landscape along the Bight of Benin - Testing Regional Representativeness of West-African Population Samples Using Y-Chromosomal Markers.

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Maarten H D Larmuseau

Full Text Available Patterns of genetic variation in human populations across the African continent are still not well studied in comparison with Eurasia and America, despite the high genetic and cultural diversity among African populations. In population and forensic genetic studies a single sample is often used to represent a complete African region. In such a scenario, inappropriate sampling strategies and/or the use of local, isolated populations may bias interpretations and pose questions of representativeness at a macrogeographic-scale. The non-recombining region of the Y-chromosome (NRY has great potential to reveal the regional representation of a sample due to its powerful phylogeographic information content. An area poorly characterized for Y-chromosomal data is the West-African region along the Bight of Benin, despite its important history in the trans-Atlantic slave trade and its large number of ethnic groups, languages and lifestyles. In this study, Y-chromosomal haplotypes from four Beninese populations were determined and a global meta-analysis with available Y-SNP and Y-STR data from populations along the Bight of Benin and surrounding areas was performed. A thorough methodology was developed allowing comparison of population samples using Y-chromosomal lineage data based on different Y-SNP panels and phylogenies. Geographic proximity turned out to be the best predictor of genetic affinity between populations along the Bight of Benin. Nevertheless, based on Y-chromosomal data from the literature two population samples differed strongly from others from the same or neighbouring areas and are not regionally representative within large-scale studies. Furthermore, the analysis of the HapMap sample YRI of a Yoruban population from South-western Nigeria based on Y-SNPs and Y-STR data showed for the first time its regional representativeness, a result which is important for standard population and forensic genetic applications using the YRI sample

Fathers in Turkey: Paternity Characteristics, Gender Role, Communication Skills

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ünüvar, Perihan

2017-01-01

Objective of this study is to examine the correlation the quality of paternity, gender roles and communication skills of fathers. The scores in the scale of supporting developmental tasks were used in order to determine the quality of paternity. The other data collection tools were the BEM sex role inventory and the communication skills inventory.…

Structural rearrangements of chromosome 15 satellites resulting in Prader-Willi syndrome suggest a complex mechanism for uniparental disomy

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Toth-Fijel, S.; Gunter, K.; Olson, S. [Oregon Health Sciences Univ., Portland, OR (United States)] [and others

1994-09-01

We report two cases of PWS in which there was abnormal meiosis I segregation of chromosome 15 following a rare translocation event between the heteromorphic satellite regions of chromosomes 14 and 15 and an apparent meiotic recombination in the unstable region of 15q11.2. PWS and normal appearing chromosomes in case one prompted a chromosome 15 origin analysis. PCR analysis indicated maternal isodisomy for the long arm of chromosome. However, only one chromosome 15 had short arm heteromorphisms consistent with either paternal or maternal inheritance. VNTR DNA analysis and heteromorphism data suggest that a maternal de novo translocation between chromosome 14 and 15 occurred prior to meiosis I. This was followed by recombination between D15Z1 and D15S11 and subsequent meiosis I nondisjunction. Proband and maternal karyotype display a distamycin A-DAPI positive region on the chromosome 14 homolog involved in the translocation. Fluorescent in situ hybridization (FISH) analyses of ONCOR probes D15S11, SNRPN, D15S11 and GABRB 3 were normal, consistent with the molecular data. Case two received a Robertsonian translocation t(14;15)(p13;p13) of maternal origin. Chromosome analysis revealed a meiosis I error producing UPD. FISH analysis of the proband and parents showed normal hybridization of ONCOR probes D15Z1, D15S11, SNRPN, D15S10 and GABRB3. In both cases the PWS probands received a structurally altered chromosome 15 that had rearranged with chromosome 14 prior to meiosis. If proper meiotic segregation is dependent on the resolution of chiasmata and/or the binding to chromosome-specific spindle fibers, then it may be possible that rearrangements of pericentric or unstable regions of the genome disrupt normal disjunction and lead to uniparental disomy.

Empirical evidence for son-killing X chromosomes and the operation of SA-zygotic drive.

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Friberg, Urban; Stewart, Andrew D; Rice, William R

2011-01-01

Diploid organisms have two copies of all genes, but only one is carried by each haploid gamete and diploid offspring. This causes a fundamental genetic conflict over transmission rate between alternative alleles. Single genes, or gene clusters, only rarely code for the complex phenotypes needed to give them a transmission advantage (drive phenotype). However, all genes on a male's X and Y chromosomes co-segregate, allowing different sex-linked genes to code for different parts of the drive phenotype. Correspondingly, the well-characterized phenomenon of male gametic drive, occurring during haploid gametogenesis, is especially common on sex chromosomes. The new theory of sexually antagonistic zygotic drive of the sex chromosomes (SA-zygotic drive) extends the logic of gametic drive into the diploid phase of the lifecycle, whenever there is competition among siblings or harmful sib-sib mating. The X and Y are predicted to gain a transmission advantage by harming offspring of the sex that does not carry them. Here we analyzed a mutant X-chromosome in Drosophila simulans that produced an excess of daughters when transmitted from males. We developed a series of tests to differentiate between gametic and SA-zygotic drive, and provide multiple lines of evidence that SA-zygotic drive is responsible for the sex ratio bias. Driving sires produce about 50% more surviving daughters than sons. Sex-ratio distortion due to genetic conflict has evolved via gametic drive and maternally transmitted endosymbionts. Our data indicate that sex chromosomes can also drive by harming the non-carrier sex of offspring.

Empirical evidence for son-killing X chromosomes and the operation of SA-zygotic drive.

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Urban Friberg

Full Text Available Diploid organisms have two copies of all genes, but only one is carried by each haploid gamete and diploid offspring. This causes a fundamental genetic conflict over transmission rate between alternative alleles. Single genes, or gene clusters, only rarely code for the complex phenotypes needed to give them a transmission advantage (drive phenotype. However, all genes on a male's X and Y chromosomes co-segregate, allowing different sex-linked genes to code for different parts of the drive phenotype. Correspondingly, the well-characterized phenomenon of male gametic drive, occurring during haploid gametogenesis, is especially common on sex chromosomes. The new theory of sexually antagonistic zygotic drive of the sex chromosomes (SA-zygotic drive extends the logic of gametic drive into the diploid phase of the lifecycle, whenever there is competition among siblings or harmful sib-sib mating. The X and Y are predicted to gain a transmission advantage by harming offspring of the sex that does not carry them.Here we analyzed a mutant X-chromosome in Drosophila simulans that produced an excess of daughters when transmitted from males. We developed a series of tests to differentiate between gametic and SA-zygotic drive, and provide multiple lines of evidence that SA-zygotic drive is responsible for the sex ratio bias. Driving sires produce about 50% more surviving daughters than sons.Sex-ratio distortion due to genetic conflict has evolved via gametic drive and maternally transmitted endosymbionts. Our data indicate that sex chromosomes can also drive by harming the non-carrier sex of offspring.

Impact of maternal and paternal smoking on birth outcomes.

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Inoue, Sachiko; Naruse, Hiroo; Yorifuji, Takashi; Kato, Tsuguhiko; Murakoshi, Takeshi; Doi, Hiroyuki; Subramanian, S V

2017-09-01

The adverse effects of maternal and paternal smoking on child health have been studied. However, few studies demonstrate the interaction effects of maternal/paternal smoking, and birth outcomes other than birth weight have not been evaluated. The present study examined individual effects of maternal/paternal smoking and their interactions on birth outcomes. A follow-up hospital-based study from pregnancy to delivery was conducted from 1997 to 2010 with parents and newborn infants who delivered at a large hospital in Hamamatsu, Japan. The relationships between smoking and growth were evaluated with logistic regression. The individual effects of maternal smoking are related to low birth weight (LBW), short birth length and small head circumference. The individual effects of paternal smoking are related to short birth length and small head circumference. In the adjusted model, both parents' smoking showed clear associations with LBW (odds ratio [OR] = 1.64, 95% confidence interval [CI] 1.18-2.27) and short birth length (-1 standard deviation [SD] OR = 1.38, 95% CI 1.07-1.79; -2 SD OR = 2.75, 95% CI 1.84-4.10). Maternal smoking was significantly associated with birth weight and length, but paternal smoking was not. However, if both parents smoked, the risk of shorter birth length increased. © The Author 2016. Published by Oxford University Press on behalf of Faculty of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Quantitative Genetics Identifies Cryptic Genetic Variation Involved in the Paternal Regulation of Seed Development.

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Nuno D Pires

2016-01-01

Full Text Available Embryonic development requires a correct balancing of maternal and paternal genetic information. This balance is mediated by genomic imprinting, an epigenetic mechanism that leads to parent-of-origin-dependent gene expression. The parental conflict (or kinship theory proposes that imprinting can evolve due to a conflict between maternal and paternal alleles over resource allocation during seed development. One assumption of this theory is that paternal alleles can regulate seed growth; however, paternal effects on seed size are often very low or non-existent. We demonstrate that there is a pool of cryptic genetic variation in the paternal control of Arabidopsis thaliana seed development. Such cryptic variation can be exposed in seeds that maternally inherit a medea mutation, suggesting that MEA acts as a maternal buffer of paternal effects. Genetic mapping using recombinant inbred lines, and a novel method for the mapping of parent-of-origin effects using whole-genome sequencing of segregant bulks, indicate that there are at least six loci with small, paternal effects on seed development. Together, our analyses reveal the existence of a pool of hidden genetic variation on the paternal control of seed development that is likely shaped by parental conflict.

Intergenerational Comparisons of Paternal Korean Child Rearing Practices and Attitudes.

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Jung, Kwanghee; Honig, Alice Sterling

2000-01-01

Explored possible antecedents of paternal child rearing in middle-class, two-parent, Korean families. Found that fathers reported disciplinary practices similar to those of their own fathers. Fathers reported more nurturance and acceptance/flexibility than grandfathers. Paternal job satisfaction, relationship with own mother, and educational…

The paternal ancestry of Uttarakhand does not imitate the classical caste system of India.

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Negi, Neetu; Tamang, Rakesh; Pande, Veena; Sharma, Amrita; Shah, Anish; Reddy, Alla G; Vishnupriya, Satti; Singh, Lalji; Chaubey, Gyaneshwer; Thangaraj, Kumarasamy

2016-02-01

Although, there have been rigorous research on the Indian caste system by several disciplines, it is still one of the most controversial socioscientific topic. Previous genetic studies on the subcontinent have supported a classical hierarchal sharing of genetic component by various castes of India. In the present study, we have used high-resolution mtDNA and Y chromosomal markers to characterize the genetic structuring of the Uttarakhand populations in the context of neighboring regions. Furthermore, we have tested whether the genetic structuring of caste populations at different social levels of this region, follow the classical chaturvarna system. Interestingly, we found that this region showed a high level of variation for East Eurasian ancestry in both maternal and paternal lines of descent. Moreover, the intrapopulation comparison showed a high level of heterogeneity, likely because of different caste hierarchy, interpolated on asymmetric admixture of populations inhabiting on both sides of the Himalayas.

Religion as a means to assure paternity.

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Strassmann, Beverly I; Kurapati, Nikhil T; Hug, Brendan F; Burke, Erin E; Gillespie, Brenda W; Karafet, Tatiana M; Hammer, Michael F

2012-06-19

The sacred texts of five world religions (Buddhism, Christianity, Hinduism, Islam, and Judaism) use similar belief systems to set limits on sexual behavior. We propose that this similarity is a shared cultural solution to a biological problem: namely male uncertainty over the paternity of offspring. Furthermore, we propose the hypothesis that religious practices that more strongly regulate female sexuality should be more successful at promoting paternity certainty. Using genetic data on 1,706 father-son pairs, we tested this hypothesis in a traditional African population in which multiple religions (Islam, Christianity, and indigenous) coexist in the same families and villages. We show that the indigenous religion enables males to achieve a significantly (P = 0.019) lower probability of cuckoldry (1.3% versus 2.9%) by enforcing the honest signaling of menstruation, but that all three religions share tenets aimed at the avoidance of extrapair copulation. Our findings provide evidence for high paternity certainty in a traditional African population, and they shed light on the reproductive agendas that underlie religious patriarchy.

Paternal Stimulation and Early Child Development in Low- and Middle-Income Countries.

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Jeong, Joshua; McCoy, Dana Charles; Yousafzai, Aisha K; Salhi, Carmel; Fink, Günther

2016-10-01

Few studies have examined the relationship between paternal stimulation and children's growth and development, particularly in low- and middle-income countries (LMICs). This study aimed to estimate the prevalence of paternal stimulation and to assess whether paternal stimulation was associated with early child growth and development. Data from the Multiple Indicator Cluster Surveys rounds 4 and 5 were combined across 38 LMICs. The sample comprised 87 286 children aged 3 and 4 years. Paternal stimulation was measured by the number of play and learning activities (up to 6) a father engaged in with his child over the past 3 days. Linear regression models were used to estimate standardized mean differences in height-for-age z-scores and Early Childhood Development Index (ECDI) z-scores across 3 levels of paternal stimulation, after controlling for other caregivers' stimulation and demographic covariates. A total of 47.8% of fathers did not engage in any stimulation activities, whereas 6.4% of fathers engaged in 5 or 6 stimulation activities. Children whose fathers were moderately engaged in stimulation (1-4 activities) showed ECDI scores that were 0.09 SD (95% confidence interval [CI]: -0.12 to -0.06) lower than children whose fathers were highly engaged; children whose fathers were unengaged showed ECDI scores that were 0.14 SD lower (95% CI: -0.17 to -0.12). Neither moderate paternal stimulation nor lack of paternal stimulation was associated with height-for-age z-scores, relative to high stimulation. Increasing paternal engagement in stimulation is likely to improve early child development in LMICs. Copyright © 2016 by the American Academy of Pediatrics.

Investigation of paternity establishing without the putative father using hypervariable DNA probes.

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Yokoi, T; Odaira, T; Nata, M; Sagisaka, K

1990-09-01

Seven kinds of DNA probes which recognize hypervariable loci were applied for paternity test. The putative father was decreased and unavailable for the test. The two legitimate children and their mother (the deceased's wife) and the four illegitimate children and their mother (the deceased's kept mistress) were available for analysis. Paternity index of four illegitimate child was investigated. Allelic frequencies and their confidence intervals among unrelated Japanese individuals were previously reported from our laboratory, and co-dominant segregation of the polymorphism was confirmed in family studies. Cumulative paternity indices of four illegitimate children from 16 kinds of standard blood group markers were 165, 42, 0.09, and 36, respectively. On the other hand, cumulative paternity indices from 7 kinds of DNA probes are 2,363, 4,685, 57,678, and 54,994, respectively, which are 14, 113, 640, 864, and 1,509 times higher than that from standard blood group markers. The DNA analyses gave nearly conclusive evidence that the putative father was the biological father of the children. Especially, the paternity relation of the third illegitimate child could not be established without the DNA analyses. Accordingly, DNA polymorphism is considered to be informative enough for paternity test.

From killer to carer: steroid hormones and paternal behaviour | de ...

African Journals Online (AJOL)

Mammalian parental investment (i.e. care of descendant offspring) is largely biased towards maternal contributions due to the specific feeding needs of mammalian offspring; however, varying degrees of paternal investment have been reported in about 10% of all mammalian species. Within the order Carnivora, paternal ...

The effect of pregnancy on paternal skin allograft survival

Institute of Scientific and Technical Information of China (English)

无

2009-01-01

Elucidation of maternal-fetal tolerance mechanisms clarifies the role of regulatory T cells (Treg) in transplant tolerance. This study aim to investigate the effect of pregnancy on paternal skin allograft survival. Flow cytometry techniques, mixed lymphocytes reaction (MLR), PCR, real-time PCR and skin transplantation were key methods. Treg increased significantly from 4.2% before pregnancy to peak at 6.8% day 8 after pregnancy. Both heme oxygenase-1 (HO-1) and indoleamine 2,3-dioxygenase (IDO) mRNA express high in placenta while low in spleen (P<0.05). Although Treg increased during pregnancy, and splenocytes from the pregnant mice showed lower MLR response toward the paternal stimulator, single time pregnancy showed no significant protective effect on paternal skin allograft survival in the tested condition.

Paternal exposure and counselling: experience of a Teratology Information Service.

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De Santis, Marco; Cesari, Elena; Cavaliere, Annafranca; Ligato, Maria Serena; Nobili, Elena; Visconti, Daniela; Caruso, Alessandro

2008-09-01

We describe paternal exposure and counselling in a selected population calling to an Italian Teratology Information Service (TIS). The majority of callers asked for paternal drug exposure (76%, drugs except chemotherapy) and treatment for cancer (17%, chemotherapy and/or radiotherapy). Others asked for exposure to diagnostic radiations (4%), recreational drugs (2%) and occupational chemicals (1%). Among paternal drugs neurological compounds, immunosuppressive drugs and antiviral agents were the main reasons for calling. In humans, there are no evidences of birth defects after paternal exposures, but to minimize any possible risk, counselling in men exposed to radio and chemotherapy should recommend delaying conception for at least 3 months after the end of the therapy. Male patients treated with drugs, whose teratogenic potential has been well assessed or suspected for maternal exposure, should be advised to practice effective birth control during therapy and up to one or two cycles of spermatogenesis and to avoid semen contact with vaginal walls during first trimester of pregnancy.

Diagnosis of Familial Wolf-Hirschhorn Syndrome due to a Paternal Cryptic Chromosomal Rearrangement by Conventional and Molecular Cytogenetic Techniques

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Venegas-Vega, Carlos A.; Zepeda, Luis M.; Garduño-Zarazúa, Luz M.; Berumen, Jaime; Kofman, Susana; Cervantes, Alicia

2013-01-01

The use of conventional cytogenetic techniques in combination with fluorescent in situ hybridization (FISH) and single-nucleotide polymorphism (SNP) microarrays is necessary for the identification of cryptic rearrangements in the diagnosis of chromosomal syndromes. We report two siblings, a boy of 9 years and 9 months of age and his 7-years- and 5-month-old sister, with the classic Wolf-Hirschhorn syndrome (WHS) phenotype. Using high-resolution GTG- and NOR-banding karyotypes, as well as FISH analysis, we characterized a pure 4p deletion in both sibs and a balanced rearrangement in their father, consisting in an insertion of 4p material within a nucleolar organizing region of chromosome 15. Copy number variant (CNV) analysis using SNP arrays showed that both siblings have a similar size of 4p deletion (~6.5 Mb). Our results strongly support the need for conventional cytogenetic and FISH analysis, as well as high-density microarray mapping for the optimal characterization of the genetic imbalance in patients with WHS; parents must always be studied for recognizing cryptic balanced chromosomal rearrangements for an adequate genetic counseling. PMID:23484094

Psychosocial factors associated with paternal postnatal depression.

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Demontigny, Francine; Girard, Marie-Eve; Lacharité, Carl; Dubeau, Diane; Devault, Annie

2013-08-15

While maternal postpartum depression is a well-known phenomenon, paternal postnatal depression has been less studied. It is known that paternal postnatal depression impacts on children's and families' development, affects marital satisfaction and affects the economic health of industrialized countries. The aim of this study was to identify the psychosocial factors associated with paternal postnatal depression. A descriptive-correlational study was conducted with a sample of fathers of infants (average age: 11 months) who were breastfed exclusively or predominantly for at least 6 months, comparing psychosocial factors in fathers with (n: 17, 8.2%) and without a positive score for depression on the EPDS scale (n: 188). Psychosocial factors were assessed through questionnaires. Depression in fathers of breastfed infants is associated with the experience of perinatal loss in a previous pregnancy, parenting distress, infant temperament (difficult child), dysfunctional interactions with the child, decreased marital adjustment and perceived low parenting efficacy. Multivariate analysis suggests an independent effect of psychosocial factors such as parenting distress, quality of the marital relationship and perceived parenting efficacy on paternal depression. The sample focused on fathers of breastfed infant, since breastfeeding has become the feeding norm, and this should be taken into account when considering the generalization of findings. These findings emphasize the need to consider a set of psychosocial factors when examining fathers' mental health in the first year of a child's birth. Health professionals can enhance parenting efficacy and alleviate parenting distress by supporting fathers' unique experiences and addressing their needs. Copyright © 2013 Elsevier B.V. All rights reserved.

Associations Between Paternal Responsiveness and Stress Responsiveness in the Biparental California Mouse, Peromyscus californicus

OpenAIRE

Chauke, Miyetani

2012-01-01

The mechanistic basis of paternal behavior in mammals is poorly understood. Assuming there are parallels between the factors mediating maternal and paternal behavior, it can be expected that the onset of paternal behavior is facilitated by reductions in stress responsiveness, as occurs in females of several mammalian species. This dissertation describes studies investigating the role of stress responsiveness in the expression of paternal behavior in biparental, monogamous California mice (Per...

Strong and stable geographic differentiation of swamp buffalo maternal and paternal lineages indicates domestication in the China/Indochina border region.

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Zhang, Yi; Lu, Yongfang; Yindee, Marnoch; Li, Kuan-Yi; Kuo, Hsiao-Yun; Ju, Yu-Ten; Ye, Shaohui; Faruque, Md Omar; Li, Qiang; Wang, Yachun; Cuong, Vu Chi; Pham, Lan Doan; Bouahom, Bounthong; Yang, Bingzhuang; Liang, Xianwei; Cai, Zhihua; Vankan, Dianne; Manatchaiworakul, Wallaya; Kowlim, Nonglid; Duangchantrasiri, Somphot; Wajjwalku, Worawidh; Colenbrander, Ben; Zhang, Yuan; Beerli, Peter; Lenstra, Johannes A; Barker, J Stuart F

2016-04-01

The swamp type of the Asian water buffalo is assumed to have been domesticated by about 4000 years BP, following the introduction of rice cultivation. Previous localizations of the domestication site were based on mitochondrial DNA (mtDNA) variation within China, accounting only for the maternal lineage. We carried out a comprehensive sampling of China, Taiwan, Vietnam, Laos, Thailand, Nepal and Bangladesh and sequenced the mtDNA Cytochrome b gene and control region and the Y-chromosomal ZFY, SRY and DBY sequences. Swamp buffalo has a higher diversity of both maternal and paternal lineages than river buffalo, with also a remarkable contrast between a weak phylogeographic structure of river buffalo and a strong geographic differentiation of swamp buffalo. The highest diversity of the swamp buffalo maternal lineages was found in south China and north Indochina on both banks of the Mekong River, while the highest diversity in paternal lineages was in the China/Indochina border region. We propose that domestication in this region was later followed by introgressive capture of wild cows west of the Mekong. Migration to the north followed the Yangtze valley as well as a more eastern route, but also involved translocations of both cows and bulls over large distances with a minor influence of river buffaloes in recent decades. Bayesian analyses of various migration models also supported domestication in the China/Indochina border region. Coalescence analysis yielded consistent estimates for the expansion of the major swamp buffalo haplogroups with a credibility interval of 900 to 3900 years BP. The spatial differentiation of mtDNA and Y-chromosomal haplotype distributions indicates a lack of gene flow between established populations that is unprecedented in livestock. © 2015 John Wiley & Sons Ltd.

Regulatory role of prolactin in paternal behavior in male parents: A narrative review

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F Hashemian

2016-01-01

Full Text Available In all mammalian species, a combination of neuroendocrine and experiential factors contributes to the emergence of remarkable behavioral changes observed in parental behavior. Yet, our understanding of neuroendocrine bases of paternal behavior in humans is still preliminary and more research is needed in this area. In the present review, the authors summarized hormonal bases of paternal behavior in both human and nonhuman mammalian species and focused on studies on the regulatory role of prolactin in occurrence of paternal behavior. All peer-reviewed journal articles published before 2015 for each area discussed (parental brain, hormonal bases of maternal behavior, hormonal bases of paternal behavior and the role of prolactin in regulation of paternal behavior in nonhuman mammalian species, hormonal bases of paternal behavior and the role of prolactin in regulation of paternal behavior in humans were searched by PubMed, Medline, and Scopus for original research and review articles. Publications between 1973 and 2015 were included. Similar to female parents, elevated prolactin levels in new fathers most probably contribute to child-caring behavior and facilitate behavioral and emotional states attributed to child care. Moreover, elevated parental prolactin levels after childbirth decrease the parents′ libidos so that they invest more in parental care than in fertility behavior. According to the available clinical studies, elevation in the amounts of prolactin levels after childbirth in male parents are probably associated with paternal behavior observed in humans.

Structural rearrangements of chromosomes in the domestic chicken: experimental production by X-irradiation of spermatozoa

International Nuclear Information System (INIS)

Wooster, W.E.; Fechheimer, N.S.; Jaap, R.G.

1977-01-01

In order to produce chicks heterozygous for structural aberrations of chromosomes, 67 hens were inseminated with semen that had been exposed to 1200 R of X-rays. A sample of 204 chicks was hatched and survived. Among these, 18 (8.9%) contained rearrangements comprising 19 translocations and one pericentric inversion. All 10 males and eight females heterozygous for rearrangements were fertile and transmitted these rearrangements to approximately half their hatched progeny. Each of the major chromosomes of the chicken karyotype, except number 6, was involved in one or more of the translocations. The pericentric inversion was of a segment of chromosome number 2. (author)

Non-random X chromosome inactivation in an affected twin in a monozygotic twin pair discordant for Wiedemann-Beckwith syndrome

Energy Technology Data Exchange (ETDEWEB)

Oestavik, R.E.; Eiklid, K.; Oerstavik, K.H. [Ulleval Univ. Hospital, Oslo (Norway)] [and others

1995-03-27

Wiedemann-Beckwith syndrome (WBS) is a syndrome including exomphalos, macroglossia, and generalized overgrowth. The locus has been assigned to 11p15, and genomic imprinting may play a part in the expression of one or more genes involved. Most cases are sporadic. An excess of female monozygotic twins discordant for WBS have been reported, and it has been proposed that this excess could be related to the process of X chromosome inactivation. We have therefore studied X chromosome inactivation in 13-year-old monozygotic twin girls who were discordant for WBS. In addition, both twins had Tourette syndrome. The twins were monochorionic and therefore the result of a late twinning process. This has also been the case in previously reported discordant twin pairs with information on placentation. X chromosome inactivation was determined in DNA from peripheral blood cells by PCR analysis at the androgen receptor locus. The affected twin had a completely skewed X inactivation, where the paternal allele was on the active X chromosome in all cells. The unaffected twin had a moderately skewed X inactivation in the same direction, whereas the mother had a random pattern. Further studies are necessary to establish a possible association between the expression of WBS and X chromosome inactivation. 18 refs., 2 figs., 1 tab.

Paternal Autonomy Restriction, Neighborhood Safety, and Child Anxiety Trajectory in Community Youth

Science.gov (United States)

Cooper-Vince, Christine E.; Chan, Priscilla T.; Pincus, Donna B.; Comer, Jonathan S.

2014-01-01

Intrusive parenting, primarily examined among middle to upper-middle class mothers, has been positively associated with the presence and severity of anxiety in children. This study employed cross-sectional linear regression and longitudinal latent growth curve analyses to evaluate the main and interactive effects of early childhood paternal autonomy restriction (AR) and neighborhood safety (NS) on the trajectory of child anxiety in a sample of 596 community children and fathers from the NICHD SECYD. Longitudinal analyses revealed that greater paternal AR at age 6 was actually associated with greater decreases in child anxiety in later childhood. Cross-sectional analyses revealed main effects for NS across childhood, and interactive effects of paternal AR and NS that were present only in early childhood, whereby children living in safer neighborhoods demonstrated increased anxiety when experiencing lower levels of paternal AR. Findings further clarify for whom and when paternal AR impacts child anxiety in community youth. PMID:25242837

Paternal Autonomy Restriction, Neighborhood Safety, and Child Anxiety Trajectory in Community Youth.

Science.gov (United States)

Cooper-Vince, Christine E; Chan, Priscilla T; Pincus, Donna B; Comer, Jonathan S

2014-07-01

Intrusive parenting, primarily examined among middle to upper-middle class mothers, has been positively associated with the presence and severity of anxiety in children. This study employed cross-sectional linear regression and longitudinal latent growth curve analyses to evaluate the main and interactive effects of early childhood paternal autonomy restriction (AR) and neighborhood safety (NS) on the trajectory of child anxiety in a sample of 596 community children and fathers from the NICHD SECYD. Longitudinal analyses revealed that greater paternal AR at age 6 was actually associated with greater decreases in child anxiety in later childhood. Cross-sectional analyses revealed main effects for NS across childhood, and interactive effects of paternal AR and NS that were present only in early childhood, whereby children living in safer neighborhoods demonstrated increased anxiety when experiencing lower levels of paternal AR. Findings further clarify for whom and when paternal AR impacts child anxiety in community youth.

Nudging towards nutrition? Soft paternalism and obesity-related reform.

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Hector, Colin

2012-01-01

Obesity is one of the most contentious issues facing the United States today. Some researchers warn of an obesity "epidemic" that poses a grave threat to our nation's health, while others attack these claims as alarmist and misguided. This divide reinforces the political schism between advocates of government intervention and anti-regulatory groups. As a result, obesity science finds itself entangled in partisan battles that leave little room for compromise. This paper explores the potential for the political philosophy of soft paternalism to provide a regulatory framework that may appeal to both sides of the obesity reform debate. Soft paternalism draws upon social science research in order to develop policies that encourage better decision-making, while preserving individual choice. Applying this framework to the issue of obesity, I look at two areas of potential reform: 1) information-based policies such as nutritional label design, and 2) policies that affect default choices, such as portion size norms. I find that while soft paternalism is an appealing framework that offers many promising reforms, it is not a panacea. Instead, I argue that these proposals should be considered on their own merit, not as a complete solution precluding other measures. In addition, in light of potential criticism concerning the stigmatizing effect of some obesity-related measures, I suggest that reforms based on soft paternalism can and should be tailored to promote more mindful eating habits. With these concerns in mind, I conclude that soft paternalism is a promising approach that warrants serious consideration by policymakers.

Implications of advancing paternal age: does it affect offspring school performance?

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Anna C Svensson

Full Text Available Average paternal age is increasing in many high income countries, but the implications of this demographic shift for child health and welfare are poorly understood. There is equivocal evidence that children of older fathers are at increased risk of neurodevelopmental disorders and reduced IQ. We therefore report here on the relationship between paternal age and a composite indicator of scholastic achievement during adolescence, i.e. compulsory school leaving grades, among recent birth cohorts in Stockholm County where delayed paternity is notably common. We performed a record-linkage study comprising all individuals in Stockholm County who finished 9 years of compulsory school from 2000 through 2007 (n = 155,875. Data on school leaving grades and parental characteristics were retrieved from administrative and health service registers and analyzed using multiple linear regression. Advancing paternal age at birth was not associated with a decrease in school leaving grades in adolescent offspring. After adjustment for year of graduation, maternal age and parental education, country of birth and parental mental health service use, offspring of fathers aged 50 years or older had on average 0.3 (95% CI -3.8, 4.4 points higher grades than those of fathers aged 30-34 years. In conclusion, advancing paternal age is not associated with poorer school performance in adolescence. Adverse effects of delayed paternity on offspring cognitive function, if any, may be counterbalanced by other potential advantages for children born to older fathers.

Paternal identity impacts embryonic development for two species of freshwater fish.

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Siddique, Mohammad Abdul Momin; Linhart, Otomar; Krejszeff, Sławomir; Żarski, Daniel; Pitcher, Trevor E; Politis, Sebastian Nikitas; Butts, Ian Anthony Ernest

2017-05-01

Paternal, compared to maternal, contributions were believed to have only a limited influence on embryonic development and larval fitness traits in fishes. Therefore, the perspective of male influence on early life history traits has come under scrutiny. This study was conducted to determine parental effects on the rate of eyed embryos of Ide Leuciscus idus and Northern pike Esox lucius. Five sires and five dams from each species were crossed using a quantitative genetic breeding design and the resulting 25 sib groups of each species were reared to the embryonic eyed stage. We then partition variation in embryonic phenotypic performance to maternal, paternal, and parental interactions using the Restricted Maximum Likelihood (REML) model. Results showed that paternal, maternal, and the paternal×maternal interaction terms were highly significant for both species; clearly demonstrating that certain family combinations were more compatible than others. Paternal effects explained 20.24% of the total variance, which was 2-fold higher than the maternal effects (10.73%) in Ide, while paternal effects explained 18.9% of the total variance, which was 15-fold higher than the maternal effects (1.3%) in Northern pike. Together, these results indicate that male effects are of major importance during embryonic development for these species. Furthermore, this study demonstrates that genetic compatibility between sires and dams plays an important role and needs to be taken into consideration for reproduction of these and likely other economically important fish species. Copyright © 2016 Elsevier Inc. All rights reserved.

The certainty that engendered doubt: paternity and DNA

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Claudia Fonseca

Full Text Available There has been a surge in the use of DNA paternity tests in Brazil in both private and government laboratories. This raises interesting questions about the influence of the medical and legal spheres on gender and kinship relations in contemporary society. To analyze this phenomenon, we conducted research and observations in various government agencies in Porto Alegre (the Public Defender's office, Mediation Hearings, Family Court and the Court's Medical Service of people involved in legal disputes over paternal identification. We also studied how recent changes in the laws concerning paternal recognition are applied by the different personalities on the scene. Based on this data, we present the hypothesis that far from inspiring greater tranquility, the simple existence of the test instigates doubt. This has profound repercussions on our form of "knowing" who is the father. The situation described in this paper raises new challenges for an anthropology of knowledge, which focuses on an analysis of Western beliefs - including scientific ones.

Potential of Environmental Enrichment to Prevent Transgenerational Effects of Paternal Trauma.

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Gapp, Katharina; Bohacek, Johannes; Grossmann, Jonas; Brunner, Andrea M; Manuella, Francesca; Nanni, Paolo; Mansuy, Isabelle M

2016-10-01

Adverse experiences in early life are risk factors for the development of behavioral and physiological symptoms that can lead to psychiatric and cognitive disorders later in life. Some of these symptoms can be transmitted to the offspring, in some cases by non-genomic mechanisms involving germ cells. Using a mouse model of unpredictable maternal separation and maternal stress, we show that postnatal trauma alters coping behaviors in adverse conditions in exposed males when adult and in their adult male progeny. The behavioral changes are accompanied by increased glucocorticoid receptor (GR) expression and decreased DNA methylation of the GR promoter in the hippocampus. DNA methylation is also decreased in sperm cells of exposed males when adult. Transgenerational transmission of behavioral symptoms is prevented by paternal environmental enrichment, an effect associated with the reversal of alterations in GR gene expression and DNA methylation in the hippocampus of the male offspring. These findings highlight the influence of both negative and positive environmental factors on behavior across generations and the plasticity of the epigenome across life.

Diagnosis of Familial Wolf-Hirschhorn Syndrome due to a Paternal Cryptic Chromosomal Rearrangement by Conventional and Molecular Cytogenetic Techniques

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Carlos A. Venegas-Vega

2013-01-01

Full Text Available The use of conventional cytogenetic techniques in combination with fluorescent in situ hybridization (FISH and single-nucleotide polymorphism (SNP microarrays is necessary for the identification of cryptic rearrangements in the diagnosis of chromosomal syndromes. We report two siblings, a boy of 9 years and 9 months of age and his 7-years- and 5-month-old sister, with the classic Wolf-Hirschhorn syndrome (WHS phenotype. Using high-resolution GTG- and NOR-banding karyotypes, as well as FISH analysis, we characterized a pure 4p deletion in both sibs and a balanced rearrangement in their father, consisting in an insertion of 4p material within a nucleolar organizing region of chromosome 15. Copy number variant (CNV analysis using SNP arrays showed that both siblings have a similar size of 4p deletion (~6.5 Mb. Our results strongly support the need for conventional cytogenetic and FISH analysis, as well as high-density microarray mapping for the optimal characterization of the genetic imbalance in patients with WHS; parents must always be studied for recognizing cryptic balanced chromosomal rearrangements for an adequate genetic counseling.

The causal effect of paternal unemployment on children's personality

OpenAIRE

Angelini, Viola; Bertoni, Marco; Corazzini, Luca

2015-01-01

Using longitudinal data from the German Socio-Economic Panel (SOEP), we show that paternal unemployment has a surprisingly positive causal effect on the "Big 5" personality traits of children aged 17 to 25. In particular, our results from longitudinal value-added models for personality suggest that paternal unemployment makes children significantly more conscientious and less neurotic. Our results are robust to different estimation methods and to selection on unobservables. Furthermore, these...

The Impact of Paternal and Maternal Smoking on Semen Quality of Adolescent Men.

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Axelsson, Jonatan; Rylander, Lars; Rignell-Hydbom, Anna; Silfver, Karl Ågren; Stenqvist, Amelie; Giwercman, Aleksander

2013-01-01

Maternal smoking during pregnancy has been reported to negatively impact sperm counts of the sons. Sufficient data on the effect of paternal smoking is lacking. We wished to elucidate the impact of maternal and paternal smoking during pregnancy and current own smoking on reproductive function of the male offspring. Semen parameters including sperm DNA integrity were analyzed in 295 adolescents from the general population close to Malmö, Sweden, recruited for the study during 2008-2010. Information on maternal smoking was obtained from the Swedish Medical Birth Register, and regarding own and paternal smoking from questionnaires. The impacts of maternal, paternal and own smoking were evaluated in a multivariate regression model and by use of models including interaction terms. Totally, three exposures and five outcomes were evaluated. In maternally unexposed men, paternal smoking was associated with 46% lower total sperm count (95%CI: 21%, 64%) in maternally unexposed men. Both paternal and maternal smoking were associated with a lower sperm concentration (mean differences: 35%; 95%CI: 8.1%, 55% and 36%; 95%CI: 3.9%, 57%, respectively) if the other parent was a non-smoker. No statistically significant impact of own smoking on semen parameters was seen. Prenatal both maternal and paternal smoking were separately associated with some decrease in sperm count in men of whom the other parent was not reported to smoke.

The Impact of Paternal and Maternal Smoking on Semen Quality of Adolescent Men.

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Jonatan Axelsson

Full Text Available Maternal smoking during pregnancy has been reported to negatively impact sperm counts of the sons. Sufficient data on the effect of paternal smoking is lacking.We wished to elucidate the impact of maternal and paternal smoking during pregnancy and current own smoking on reproductive function of the male offspring.Semen parameters including sperm DNA integrity were analyzed in 295 adolescents from the general population close to Malmö, Sweden, recruited for the study during 2008-2010. Information on maternal smoking was obtained from the Swedish Medical Birth Register, and regarding own and paternal smoking from questionnaires. The impacts of maternal, paternal and own smoking were evaluated in a multivariate regression model and by use of models including interaction terms. Totally, three exposures and five outcomes were evaluated.In maternally unexposed men, paternal smoking was associated with 46% lower total sperm count (95%CI: 21%, 64% in maternally unexposed men. Both paternal and maternal smoking were associated with a lower sperm concentration (mean differences: 35%; 95%CI: 8.1%, 55% and 36%; 95%CI: 3.9%, 57%, respectively if the other parent was a non-smoker. No statistically significant impact of own smoking on semen parameters was seen.Prenatal both maternal and paternal smoking were separately associated with some decrease in sperm count in men of whom the other parent was not reported to smoke.

Multiple ways to prevent transmission of paternal mitochondrial DNA for maternal inheritance in animals.

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Sato, Ken; Sato, Miyuki

2017-10-01

Mitochondria contain their own DNA (mtDNA). In most sexually reproducing organisms, mtDNA is inherited maternally (uniparentally); this type of inheritance is thus referred to as 'maternal (uniparental) inheritance'. Recent studies have revealed various mechanisms to prevent the transmission of sperm-derived paternal mtDNA to the offspring, thereby ensuring maternal inheritance of mtDNA. In the nematode Caenorhabditis elegans, paternal mitochondria and their mtDNA degenerate almost immediately after fertilization and are selectively degraded by autophagy, which is referred to as 'allophagy' (allogeneic [non-self] organelle autophagy). In the fruit fly Drosophila melanogaster, paternal mtDNA is largely eliminated by an endonuclease G-mediated mechanism. Paternal mitochondria are subsequently removed by endocytic and autophagic pathways after fertilization. In many mammals, including humans, paternal mitochondria enter fertilized eggs. However, the fate of paternal mitochondria and their mtDNA in mammals is still a matter of debate. In this review, we will summarize recent knowledge on the molecular mechanisms underlying the prevention of paternal mtDNA transmission, which ensures maternal mtDNA inheritance in animals. © The Authors 2017. Published by Oxford University Press on behalf of the Japanese Biochemical Society. All rights reserved.

Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.

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Demaerel, Wolfram; Hestand, Matthew S; Vergaelen, Elfi; Swillen, Ann; López-Sánchez, Marcos; Pérez-Jurado, Luis A; McDonald-McGinn, Donna M; Zackai, Elaine; Emanuel, Beverly S; Morrow, Bernice E; Breckpot, Jeroen; Devriendt, Koenraad; Vermeesch, Joris R

2017-10-05

Inversion polymorphisms between low-copy repeats (LCRs) might predispose chromosomes to meiotic non-allelic homologous recombination (NAHR) events and thus lead to genomic disorders. However, for the 22q11.2 deletion syndrome (22q11.2DS), the most common genomic disorder, no such inversions have been uncovered as of yet. Using fiber-FISH, we demonstrate that parents transmitting the de novo 3 Mb LCR22A-D 22q11.2 deletion, the reciprocal duplication, and the smaller 1.5 Mb LCR22A-B 22q11.2 deletion carry inversions of LCR22B-D or LCR22C-D. Hence, the inversions predispose chromosome 22q11.2 to meiotic rearrangements and increase the individual risk for transmitting rearrangements. Interestingly, the inversions are nested or flanking rather than coinciding with the deletion or duplication sizes. This finding raises the possibility that inversions are a prerequisite not only for 22q11.2 rearrangements but also for all NAHR-mediated genomic disorders. Copyright © 2017. Published by Elsevier Inc.

Paternal and maternal age at pregnancy and autism spectrum disorders in offspring

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Luh Putu Rihayani Budi

2016-11-01

Full Text Available Background The prevalence of autism spectrum disorders (ASDs has increased 10 times over the past half century, while paternal and maternal age at pregnancy has also increased. Studies looking for an association between paternal or maternal age at pregnancy and ASDs in offspring have not been conclusive. Objective To assess for possible associations between paternal and maternal age at pregnancy and ASDs in offspring. Methods This case-control study had 50 case and 100 control subjects, each case was matched for age and gender to two controls. Case subjects were obtained by consecutive sampling of patients aged 18 months to 7 years who visited the Developmental Behavioral & Community Pediatrics Outpatient Clinic and private growth and development centers from January to April 2013, while control group were children of the same age range and same gender who visited pediatric outpatient clinic at Sanglah Hospital mostly due to acute respiratory tract infection, without ASDs as assessed by the DSM-IV-TR criteria. We interviewed parents to collect the following data: maternal and paternal age at pregnancy, child’s birth weight, history of asphyxia, hospital admission during the neonatal period, pathological labor, maternal smoking during pregnancy, paternal smoking, and gestational age. Data analysis was performed with Chi-square and Fisher’s exact tests. Results Multivariable analysis showed that higher paternal age at pregnancy was associated with ASDs in offspring (OR 6.3; 95%CI 2.0 to 19.3; P 0.001. However, there was no significant association between maternal age during pregnancy and the incidence of ASDs. Asphyxia and paternal smoking were also associated with higher incidence of ASDs in the offspring (OR 10.3; 95%CI 1.9 to 56.5; P 0.007 and OR 3.2; 95%CI 1.5 to 6.9; P 0.003, respectively. Conclusion Paternal age >=40 years increased the risk of ASDs in offspring by 6.3 times. In addition, paternal smoking increased the risk of ASDs in

The genetic landscape of Equatorial Guinea and the origin and migration routes of the Y chromosome haplogroup R-V88

OpenAIRE

González, Miguel; Gomes, Verónica; López-Parra, Ana Maria; Amorim, António; Carracedo, Ángel; Sánchez-Diz, Paula; Arroyo-Pardo, Eduardo; Gusmão, Leonor

2012-01-01

Human Y chromosomes belonging to the haplogroup R1b1-P25, although very common in Europe, are usually rare in Africa. However, recently published studies have reported high frequencies of this haplogroup in the central-western region of the African continent and proposed that this represents a ‘back-to-Africa' migration during prehistoric times. To obtain a deeper insight into the history of these lineages, we characterised the paternal genetic background of a population in Equatorial Guinea,...

Paternity leave in Sweden: costs, savings and health gains.

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Månsdotter, Anna; Lindholm, Lars; Winkvist, Anna

2007-06-01

The initial objective is to examine the relationship between paternity leave in 1978-1979 and male mortality during 1981-2001, and the second objective is to calculate the cost-effectiveness of the 1974 parental insurance reform in Sweden. Based on a population of all Swedish couples who had their first child together in 1978 (45,801 males), the risk of death for men who took paternity leave, compared with men who did not, was estimated by odds ratios. The cost-effectiveness analysis considered costs for information, administration and production losses, minus savings due to decreased sickness leave and inpatient care, compared to health gains in life-years and quality-adjusted life-years (QALYs). It is demonstrated that fathers who took paternity leave have a statistically significant decreased death risk of 16%. Costs minus savings (discounted values) stretch from a net cost of EUR 19 million to a net saving of EUR 11 million, and the base case cost-effectiveness is EUR 8000 per QALY. The study indicates that that the right to paternity leave is a desirable reform based on commonly stated public health, economic, and feminist goals. The critical issue in future research should be to examine impact from health-related selection.

Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta

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Orioli, I.M. [Universidade Federal do Rio de Janeiro (Brazil); Castilla, E.E. [Centro de Educacion Medica e Investigacion Clinica, Buenos Aires (Argentina); Scarano, G.; Mastroiacovo, P. [Universita Cattolica, Rome (Italy)

1995-11-06

The paternal ages of nonfamilial cases of achondroplasia (AC) (n = 78), thanatophoric dysplasia (TD) (n = 64), and osteogenesis imperfecta (OI) (n = 106), were compared with those of matched controls, from an Italian Indagine Policentrica Italiana sulle Malformazioni Congenite (IPIMC) and a South American Estudio Colaborativo Latinoamericano de Malformaciones Congenitas (ECLAMC) series. The degree of paternal age effect on the origin of these dominant mutations differed among the three conditions. Mean paternal age was highly elevated in AC, 36.30 {plus_minus} 6.74 years in the IPIMC, and 37.19 {plus_minus} 10.53 years in the ECLAMC; less consistently elevated in TD, 33.60 {plus_minus} 7.08 years in the IPIMC, and 36.41 {plus_minus} 9.38 years in the ECLAMC; and only slightly elevated in OI in the ECLAMC, 31.15 {plus_minus} 9.25 years, but not in the IPIMC, 32.26 {plus_minus} 6.07 years. Increased maternal age or birth order in these conditions disappeared when corrected for paternal age. Approximately 50% of AC and TD cases, and only 30% of OI cases, were born to fathers above age 35 years. For AC and TD, the increase in relative incidence with paternal age fitted an exponential curve. The variability of paternal age effect in these new mutations could be due, among other reasons, to the high proportion of germ-line mosaicism in OI parents, or to the localization of the AC gene, mapped to the 4p16.3 region, in the neighborhood of an unstable DNA area. 28 refs., 1 fig., 6 tabs.

Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review.

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Hemmat, Morteza; Hemmat, Omid; Anguiano, Arturo; Boyar, Fatih Z; El Naggar, Mohammed; Wang, Jia-Chi; Wang, Borris T; Sahoo, Trilochan; Owen, Renius; Haddadin, Mary

2013-05-02

Recombinant chromosome 4, a rare constitutional rearrangement arising from pericentric inversion, comprises a duplicated segment of 4p13~p15→4pter and a deleted segment of 4q35→4qter. To date, 10 cases of recombinant chromosome 4 have been reported. We describe the second case in which array-CGH was used to characterize recombinant chromosome 4 syndrome. The patient was a one-year old boy with consistent clinical features. Conventional cytogenetics and FISH documented a recombinant chromosome 4, derived from a paternal pericentric inversion, leading to partial trisomy 4p and partial monosomy of 4q. Array-CGH, performed to further characterize the rearranged chromosome 4 and delineate the breakpoints, documented a small (4.36 Mb) 4q35.1 terminal deletion and a large (23.81 Mb) 4p15.1 terminal duplication. Genotype-phenotype analysis of 10 previously reported cases and the present case indicated relatively consistent clinical features and breakpoints. This consistency was more evident in our case and another characterized by array-CGH, where both showed the common breakpoints of p15.1 and q35.1. A genotype-phenotype correlation study between rec(4), dup(4p), and del(4q) syndromes revealed that urogenital and cardiac defects are probably due to the deletion of 4q whereas the other clinical features are likely due to 4p duplication. Our findings support that the clinical features of patients with rec(4) are relatively consistent and specific to the regions of duplication or deletion. Recombinant chromosome 4 syndrome thus appears to be a discrete entity that can be suspected on the basis of clinical features or specific deleted and duplicated chromosomal regions.

Evolution of the Banana Genome (Musa acuminata) Is Impacted by Large Chromosomal Translocations.

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Martin, Guillaume; Carreel, Françoise; Coriton, Olivier; Hervouet, Catherine; Cardi, Céline; Derouault, Paco; Roques, Danièle; Salmon, Frédéric; Rouard, Mathieu; Sardos, Julie; Labadie, Karine; Baurens, Franc-Christophe; D'Hont, Angélique

2017-09-01

Most banana cultivars are triploid seedless parthenocarpic clones derived from hybridization between Musa acuminata subspecies and sometimes M. balbisiana. M. acuminata subspecies were suggested to differ by a few large chromosomal rearrangements based on chromosome pairing configurations in intersubspecies hybrids. We searched for large chromosomal rearrangements in a seedy M. acuminata ssp. malaccensis banana accession through mate-pair sequencing, BAC-FISH, targeted PCR and marker (DArTseq) segregation in its progeny. We identified a heterozygous reciprocal translocation involving two distal 3 and 10 Mb segments from chromosomes 01 and 04, respectively, and showed that it generated high segregation distortion, reduced recombination and linkage between chromosomes 01 and 04 in its progeny. The two chromosome structures were found to be mutually exclusive in gametes and the rearranged structure was preferentially transmitted to the progeny. The rearranged chromosome structure was frequently found in triploid cultivars but present only in wild malaccensis ssp. accessions, thus suggesting that this rearrangement occurred in M. acuminata ssp. malaccensis. We propose a mechanism for the spread of this rearrangement in Musa diversity and suggest that this rearrangement could have played a role in the emergence of triploid cultivars. © The Author 2017. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution.

PPO.46 Risk of Miscarriage associated with Maternal and Paternal Smoking

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Meaney, S.; Corcoran, P.; Lutomski, J.E.; Spillane, N.; O'Donoghue, K.

2014-01-01

OBJECTIVE: Maternal smoking has been associated with increased risk of miscarriage. However little is known about the influence of paternal smoking. The study aimed to examine maternal and paternal smoking as risk factors for miscarriage. STUDY DESIGN: A cohort study was conducted in a large,

Elevated paternal glucocorticoid exposure modifies memory retention in female offspring.

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Yeshurun, Shlomo; Rogers, Jake; Short, Annabel K; Renoir, Thibault; Pang, Terence Y; Hannan, Anthony J

2017-09-01

Recent studies have demonstrated that behavioral traits are subject to transgenerational modification by paternal environmental factors. We previously reported on the transgenerational influences of increased paternal stress hormone levels on offspring anxiety and depression-related behaviors. Here, we investigated whether offspring sociability and cognition are also influenced by paternal stress. Adult C57BL/6J male mice were treated with corticosterone (CORT; 25mg/L) for four weeks prior to paired-matings to generate F1 offspring. Paternal CORT treatment was associated with decreased body weights of female offspring and a marked reduction of the male offspring. There were no differences in social behavior of adult F1 offspring in the three-chamber social interaction test. Despite male offspring of CORT-treated fathers displaying hyperactivity in the Y-maze, there was no observable difference in short-term spatial working memory. Spatial learning and memory testing in the Morris water maze revealed that female, but not male, F1 offspring of CORT-treated fathers had impaired memory retention. We used our recently developed methodology to analyze the spatial search strategy of the mice during the learning trials and determined that the impairment could not be attributed to underlying differences in search strategy. These results provide evidence for the impact of paternal corticosterone administration on offspring cognition and complement the cumulative knowledge of transgenerational epigenetic inheritance of acquired traits in rodents and humans. Copyright © 2017 Elsevier Ltd. All rights reserved.

Human Y Chromosome Haplogroup N: A Non-trivial Time-Resolved Phylogeography that Cuts across Language Families.

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Ilumäe, Anne-Mai; Reidla, Maere; Chukhryaeva, Marina; Järve, Mari; Post, Helen; Karmin, Monika; Saag, Lauri; Agdzhoyan, Anastasiya; Kushniarevich, Alena; Litvinov, Sergey; Ekomasova, Natalya; Tambets, Kristiina; Metspalu, Ene; Khusainova, Rita; Yunusbayev, Bayazit; Khusnutdinova, Elza K; Osipova, Ludmila P; Fedorova, Sardana; Utevska, Olga; Koshel, Sergey; Balanovska, Elena; Behar, Doron M; Balanovsky, Oleg; Kivisild, Toomas; Underhill, Peter A; Villems, Richard; Rootsi, Siiri

2016-07-07

The paternal haplogroup (hg) N is distributed from southeast Asia to eastern Europe. The demographic processes that have shaped the vast extent of this major Y chromosome lineage across numerous linguistically and autosomally divergent populations have previously been unresolved. On the basis of 94 high-coverage re-sequenced Y chromosomes, we establish and date a detailed hg N phylogeny. We evaluate geographic structure by using 16 distinguishing binary markers in 1,631 hg N Y chromosomes from a collection of 6,521 samples from 56 populations. The more southerly distributed sub-clade N4 emerged before N2a1 and N3, found mostly in the north, but the latter two display more elaborate branching patterns, indicative of regional contrasts in recent expansions. In particular, a number of prominent and well-defined clades with common N3a3'6 ancestry occur in regionally dissimilar northern Eurasian populations, indicating almost simultaneous regional diversification and expansion within the last 5,000 years. This patrilineal genetic affinity is decoupled from the associated higher degree of language diversity. Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Contracts and Capabilities: An Evolutionary Perspective on the Autonomy-Paternalism Debate

NARCIS (Netherlands)

S. Deakin (Simon)

2010-01-01

textabstractAn evolutionary conception of contract law is suggested as a basis for assessing claims made in the autonomy-paternalism debate. Paternalism forms one part – although by no means the whole – of a discriminating approach to contract enforcement. Selective enforcement is a long-standing

Teenage pregnancy and the influence of paternal involvement on fetal outcomes.

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Alio, Amina P; Mbah, Alfred K; Grunsten, Ryan A; Salihu, Hamisu M

2011-12-01

We sought to assess the impact of paternal involvement on adverse birth outcomes in teenage mothers. Using vital records data, we generated odds ratios (OR) and 95% confidence intervals (CI) to assess the association between paternal involvement and fetal outcomes in 192,747 teenage mothers. Paternal involvement status was based on presence/absence of paternal first and/or last name on the birth certificate. Data were obtained from vital records data from singleton births in Florida between 1998 and 2007. The study population consisted of 192,747 teenage mothers ≤ 20 years old with live single births in the State of Florida. Low birth weight, very low birth weight, preterm birth, very preterm birth, small for gestational age (SGA), neonatal death, post-neonatal death, and infant death. Risks of SGA (OR = 1.06; 95% CI: 1.03-1.10), low birth weight (OR = 1.19; 95% CI: 1.15-1.23), very low birth weight (OR = 1.53; 95% CI: 1.41-1.67), preterm birth (OR = 1.21; 95% CI: 1.17-1.25), and very preterm birth (OR = 1.49; 95% CI: 1.38-1.62) were elevated for mothers in the father-absent group. When results were stratified by race, black teenagers in the father-absent group had the highest risks of adverse birth outcomes when compared to white teenagers in the father-involved group. Lack of paternal involvement is a risk factor for adverse birth outcomes among teenage mothers; risks are most pronounced among African-American teenagers. Our findings suggest that increased paternal involvement can have a positive impact on birth outcomes for teenage mothers, which may be important for decreasing the racial disparities in infant morbidities. More studies assessing the impact of greater paternal involvement on birth outcomes are needed. Copyright © 2011 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

Shared decision making, paternalism and patient choice.

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Sandman, Lars; Munthe, Christian

2010-03-01

In patient centred care, shared decision making is a central feature and widely referred to as a norm for patient centred medical consultation. However, it is far from clear how to distinguish SDM from standard models and ideals for medical decision making, such as paternalism and patient choice, and e.g., whether paternalism and patient choice can involve a greater degree of the sort of sharing involved in SDM and still retain their essential features. In the article, different versions of SDM are explored, versions compatible with paternalism and patient choice as well as versions that go beyond these traditional decision making models. Whenever SDM is discussed or introduced it is of importance to be clear over which of these different versions are being pursued, since they connect to basic values and ideals of health care in different ways. It is further argued that we have reason to pursue versions of SDM involving, what is called, a high level dynamics in medical decision-making. This leaves four alternative models to choose between depending on how we balance between the values of patient best interest, patient autonomy, and an effective decision in terms of patient compliance or adherence: Shared Rational Deliberative Patient Choice, Shared Rational Deliberative Paternalism, Shared Rational Deliberative Joint Decision, and Professionally Driven Best Interest Compromise. In relation to these models it is argued that we ideally should use the Shared Rational Deliberative Joint Decision model. However, when the patient and professional fail to reach consensus we will have reason to pursue the Professionally Driven Best Interest Compromise model since this will best harmonise between the different values at stake: patient best interest, patient autonomy, patient adherence and a continued care relationship.

Chimerism representing both paternal alleles detected by HLA typing before kidney transplantation

DEFF Research Database (Denmark)

Christiansen, Mette; Petersen, Mikkel Steen; Møller, Bjarne Kuno

2014-01-01

trisomy 6p or by chimerism. Flow cytometric analysis, employing antibodies specific for the two paternal HLA-A alleles, clearly showed two distinct populations of cells: 83% expressing HLA-A11 and 12% expressing HLA-A2, suggesting a paternal chimerism. We are studying these cell populations to possibly...... identify the mechanism behind this rather unusual paternally derived chimerism. This exceptional case illustrates that careful scrutiny of HLA-typing results may produce atypical conclusions. Clinically, the father is considered the best donor based on immunogenetics....

Low birthweight and prematurity in relation to paternal factors

DEFF Research Database (Denmark)

Basso, Olga; Olsen, Jørn; Christensen, Kaare

1999-01-01

BACKGROUND: The importance of paternal determinants in the occurrence of low birthweight and prematurity is not well known. We investigated these outcomes in siblings and paternal half siblings as a function of changes in putative external determinants between two births in fathers who had...... experienced the birth of a premature and/or low birthweight (PTB/LBW) infant. METHODS: All fathers who, between 1980 and 1992, had an infant born before 37 completed weeks' gestation or weighing

How Next-Generation Sequencing Has Aided Our Understanding of the Sequence Composition and Origin of B Chromosomes

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Alevtina Ruban

2017-10-01

Full Text Available Accessory, supernumerary, or—most simply—B chromosomes, are found in many eukaryotic karyotypes. These small chromosomes do not follow the usual pattern of segregation, but rather are transmitted in a higher than expected frequency. As increasingly being demonstrated by next-generation sequencing (NGS, their structure comprises fragments of standard (A chromosomes, although in some plant species, their sequence also includes contributions from organellar genomes. Transcriptomic analyses of various animal and plant species have revealed that, contrary to what used to be the common belief, some of the B chromosome DNA is protein-encoding. This review summarizes the progress in understanding B chromosome biology enabled by the application of next-generation sequencing technology and state-of-the-art bioinformatics. In particular, a contrast is drawn between a direct sequencing approach and a strategy based on a comparative genomics as alternative routes that can be taken towards the identification of B chromosome sequences.

Human mutagens: evidence from paternal exposure

International Nuclear Information System (INIS)

Narod, S.A.; Douglas, G.R.; Nestmann, E.R.; Blakey, D.H.

1988-01-01

The importance of inherited mutations as a cause of human disease has been established clearly through examples of well-defined genetic anomalies, such as Down syndrome and retinoblastoma. Furthermore, it is suspected that environmental contaminants induce mutations resulting in increased risk for such defects in subsequent generations of persons exposed. The present lack of direct evidence for induced inherited genetic disorders in human beings hampers the development of risk estimation techniques for extrapolation from animal models. The most extensive prospective epidemiologic studies of inherited genetic effects have involved survivors of atomic bomb detonations and patients treated with cancer chemotherapy. In neither case has a significant elevation in inherited genetic effects or cancer been detected in the offspring of exposed individuals. Epidemiologic studies of subjects receiving chronic exposure may be confounded by the effect of maternal exposure during pregnancy. Consideration of only paternal exposure can minimize the confounding influence of teratogenicity, enhancing the resolving power of studies for inherited effects. Using this approach, retrospective (case-control) studies of childhood cancer patients have provided limited but suggestive evidence for inheritance of induced effects. Endpoints, such as congenital malformations and spontaneous abortion following paternal exposure, can also be considered as indicators of heritable mutagenic effects. For example, there is limited evidence suggesting that paternal exposure to anaesthetic gases may cause miscarriage and congenital abnormalities as a result of induced male germ cell mutations. 104 references

Fathers and Asthma Care: Paternal Involvement, Beliefs, and Management Skills.

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Friedman, Deborah; Masek, Bruce; Barreto, Esteban; Baer, Lee; Lapey, Allen; Budge, Eduardo; McQuaid, Elizabeth L

2015-09-01

To compare asthma care roles of maternal and paternal caregivers, and examine associations between caregiver involvement and the outcomes of adherence, morbidity, and parental quality of life (QoL). Mothers and fathers in 63 families of children, ages 5-9 years, with persistent asthma completed semistructured interviews and questionnaires. Adherence was measured via electronic monitoring. Paired t tests compared parental asthma care roles, and analysis of covariance, controlling for socioeconomic status, evaluated associations of asthma outcomes with caregiver involvement scores. Mothers had higher scores on measures of involvement, beliefs in medication necessity, and on four subscales of the Family Asthma Management System Scale interview (Asthma Knowledge, Relationship with Provider, Symptom Assessment, and Response to Symptoms). Maternal QoL was lowest when both maternal and paternal involvement was high. Paternal involvement was associated with increased morbidity. There is room for enhancement of fathers' asthma care roles. Higher levels of paternal involvement may be driven by family need. © The Author 2015. Published by Oxford University Press on behalf of the Society of Pediatric Psychology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

B chromosomes are more frequent in mammals with acrocentric karyotypes: support for the theory of centromeric drive.

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Palestis, Brian G; Burt, Austin; Jones, R Neil; Trivers, Robert

2004-02-07

The chromosomes of mammals tend to be either mostly acrocentric (having one long arm) or mostly bi-armed, with few species having intermediate karyotypes. The theory of centromeric drive suggests that this observation reflects a bias during female meiosis, favouring either more centromeres or fewer, and that the direction of this bias changes frequently over evolutionary time. B chromosomes are selfish genetic elements found in some individuals within some species. B chromosomes are often harmful, but persist because they drive (i.e. they are transmitted more frequently than expected). We predicted that species with mainly acrocentric chromosomes would be more likely to harbour B chromosomes than those with mainly bi-armed chromosomes, because female meiosis would favour more centromeres over fewer in species with one-armed chromosomes. Our results show that B chromosomes are indeed more common in species with acrocentric chromosomes, across all mammals, among rodents, among non-rodents and in a test of independent taxonomic contrasts. These results provide independent evidence supporting the theory of centromeric drive and also help to explain the distribution of selfish DNA across species. In addition, we demonstrate an association between the shape of the B chromosomes and the shape of the typical ('A') chromosomes.

The association between paternal sensitivity and infant-father attachment security: a meta-analysis of three decades of research.

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Lucassen, Nicole; Tharner, Anne; Van Ijzendoorn, Marinus H; Bakermans-Kranenburg, Marian J; Volling, Brenda L; Verhulst, Frank C; Lambregtse-Van den Berg, Mijke P; Tiemeier, Henning

2011-12-01

For almost three decades, the association between paternal sensitivity and infant-father attachment security has been studied. The first wave of studies on the correlates of infant-father attachment showed a weak association between paternal sensitivity and infant-father attachment security (r = .13, p infant-father attachment based on all studies currently available is presented, and the change over time of the association between paternal sensitivity and infant-father attachment is investigated. Studies using an observational measure of paternal interactive behavior with the infant, and the Strange Situation Procedure to observe the attachment relationship were included. Paternal sensitivity is differentiated from paternal sensitivity combined with stimulation in the interaction with the infant. Higher levels of paternal sensitivity were associated with more infant-father attachment security (r = .12, p attachment security than sensitive interactions without stimulation of play. Despite possible changes in paternal role patterns, we did not find stronger associations between paternal sensitivity and infant attachment in more recent years.

Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder

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Grabe Hans

2010-06-01

Full Text Available Abstract Background Obsessive-compulsive disorder (OCD is a clinically and etiologically heterogeneous syndrome. The high frequency of obsessive-compulsive symptoms reported in subjects with the 22q11.2 deletion syndrome (DiGeorge/velocardiofacial syndrome or Prader-Willi syndrome (15q11-13 deletion of the paternally derived chromosome, suggests that gene dosage effects in these chromosomal regions could increase risk for OCD. Therefore, the aim of this study was to search for microrearrangements in these two regions in OCD patients. Methods We screened the 15q11-13 and 22q11.2 chromosomal regions for genomic imbalances in 236 patients with OCD using multiplex ligation-dependent probe amplification (MLPA. Results No deletions or duplications involving 15q11-13 or 22q11.2 were identified in our patients. Conclusions Our results suggest that deletions/duplications of chromosomes 15q11-13 and 22q11.2 are rare in OCD. Despite the negative findings in these two regions, the search for copy number variants in OCD using genome-wide array-based methods is a highly promising approach to identify genes of etiologic importance in the development of OCD.

Paternal body mass index (BMI is associated with offspring intrauterine growth in a gender dependent manner.

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You-Peng Chen

Full Text Available BACKGROUND: Environmental alternations leading to fetal programming of cardiovascular diseases in later life have been attributed to maternal factors. However, animal studies showed that paternal obesity may program cardio-metabolic diseases in the offspring. In the current study we tested the hypothesis that paternal BMI may be associated with fetal growth. METHODS AND RESULTS: We analyzed the relationship between paternal body mass index (BMI and birth weight, ultrasound parameters describing the newborn's body shape as well as parameters describing the newborns endocrine system such as cortisol, aldosterone, renin activity and fetal glycated serum protein in a birth cohort of 899 father/mother/child triplets. Since fetal programming is an offspring sex specific process, male and female offspring were analyzed separately. Multivariable regression analyses considering maternal BMI, paternal and maternal age, hypertension during pregnancy, maternal total glycated serum protein, parity and either gestational age (for birth weight or time of ultrasound investigation (for ultrasound parameters as confounding showed that paternal BMI is associated with growth of the male but not female offspring. Paternal BMI correlated with birth parameters of male offspring only: birth weight; biparietal diameter, head circumference; abdominal diameter, abdominal circumference; and pectoral diameter. Cortisol was likewise significantly correlated with paternal BMI in male newborns only. CONCLUSIONS: Paternal BMI affects growth of the male but not female offspring. Paternal BMI may thus represent a risk factor for cardiovascular diseases of male offspring in later life. It remains to be demonstrated whether this is linked to an offspring sex specific paternal programming of cortisol secretion.

Proposed amendments to the legal proposition on establishment of non-marital paternity from 1855

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Kulauzov Maša M.

2015-01-01

Full Text Available Proposed amendments to the article 130 of Serbian Civil Code (henceforth: SCC of 1844 regarding establishment of non-marital paternity were scrutinized in this paper. Originally, establishment of non-marital paternity was granted, but with significant restriction that presumed parent could have been declared the father of an illegitimate child only if he had recognized paternity. That is the reason why in 1855 the Supreme Court suggested amendment to the provision concerning determination of paternity. According to proposed modification, evidence that presumed father was on intimate terms with child's mother in the time of conception should have been sufficient for establishment of paternity. As non-marital relationships were condemned in patriarchal Serbian 19th century society, illegitimate children were considered a product of sin and family disgrace. Hence, the Ministry of Justice, the State Council and Prince Aleksandar Karađorđević were not interested in bettering their position by widening possibilities of determination of fatherhood. Subsequently, in 1868 the amendment was passed by which non-marital paternity could not have been established by a court order, subject to certain exceptions (if one raped or abducted a woman, and the time of conception coincided with the time of abduction or rape. Since 1868 paternity could have been determined solely subject to the consent, i.e. recognition of the illegitimate father.

Paternal leakage of mitochondrial DNA in experimental crosses of populations of the potato cyst nematode Globodera pallida.

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Hoolahan, Angelique H; Blok, Vivian C; Gibson, Tracey; Dowton, Mark

2011-12-01

Animal mtDNA is typically assumed to be maternally inherited. Paternal mtDNA has been shown to be excluded from entering the egg or eliminated post-fertilization in several animals. However, in the contact zones of hybridizing species and populations, the reproductive barriers between hybridizing organisms may not be as efficient at preventing paternal mtDNA inheritance, resulting in paternal leakage. We assessed paternal mtDNA leakage in experimental crosses of populations of a cyst-forming nematode, Globodera pallida. A UK population, Lindley, was crossed with two South American populations, P5A and P4A. Hybridization of these populations was supported by evidence of nuclear DNA from both the maternal and paternal populations in the progeny. To assess paternal mtDNA leakage, a ~3.4 kb non-coding mtDNA region was analyzed in the parental populations and in the progeny. Paternal mtDNA was evident in the progeny of both crosses involving populations P5A and P4A. Further, paternal mtDNA replaced the maternal mtDNA in 22 and 40 % of the hybrid cysts from these crosses, respectively. These results indicate that under appropriate conditions, paternal leakage occurs in the mtDNA of parasitic nematodes, and supports the hypothesis that hybrid zones facilitate paternal leakage. Thus, assumptions of strictly maternal mtDNA inheritance may be frequently violated, particularly when divergent populations interbreed.

ATM promotes the obligate XY crossover and both crossover control and chromosome axis integrity on autosomes.

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Marco Barchi

2008-05-01

Full Text Available During meiosis in most sexually reproducing organisms, recombination forms crossovers between homologous maternal and paternal chromosomes and thereby promotes proper chromosome segregation at the first meiotic division. The number and distribution of crossovers are tightly controlled, but the factors that contribute to this control are poorly understood in most organisms, including mammals. Here we provide evidence that the ATM kinase or protein is essential for proper crossover formation in mouse spermatocytes. ATM deficiency causes multiple phenotypes in humans and mice, including gonadal atrophy. Mouse Atm-/- spermatocytes undergo apoptosis at mid-prophase of meiosis I, but Atm(-/- meiotic phenotypes are partially rescued by Spo11 heterozygosity, such that ATM-deficient spermatocytes progress to meiotic metaphase I. Strikingly, Spo11+/-Atm-/- spermatocytes are defective in forming the obligate crossover on the sex chromosomes, even though the XY pair is usually incorporated in a sex body and is transcriptionally inactivated as in normal spermatocytes. The XY crossover defect correlates with the appearance of lagging chromosomes at metaphase I, which may trigger the extensive metaphase apoptosis that is observed in these cells. In addition, control of the number and distribution of crossovers on autosomes appears to be defective in the absence of ATM because there is an increase in the total number of MLH1 foci, which mark the sites of eventual crossover formation, and because interference between MLH1 foci is perturbed. The axes of autosomes exhibit structural defects that correlate with the positions of ongoing recombination. Together, these findings indicate that ATM plays a role in both crossover control and chromosome axis integrity and further suggests that ATM is important for coordinating these features of meiotic chromosome dynamics.

Genetic origin, admixture, and asymmetry in maternal and paternal human lineages in Cuba

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Martínez-Fuentes Antonio

2008-07-01

Full Text Available Abstract Background Before the arrival of Europeans to Cuba, the island was inhabited by two Native American groups, the Tainos and the Ciboneys. Most of the present archaeological, linguistic and ancient DNA evidence indicates a South American origin for these populations. In colonial times, Cuban Native American people were replaced by European settlers and slaves from Africa. It is still unknown however, to what extent their genetic pool intermingled with and was 'diluted' by the arrival of newcomers. In order to investigate the demographic processes that gave rise to the current Cuban population, we analyzed the hypervariable region I (HVS-I and five single nucleotide polymorphisms (SNPs in the mitochondrial DNA (mtDNA coding region in 245 individuals, and 40 Y-chromosome SNPs in 132 male individuals. Results The Native American contribution to present-day Cubans accounted for 33% of the maternal lineages, whereas Africa and Eurasia contributed 45% and 22% of the lineages, respectively. This Native American substrate in Cuba cannot be traced back to a single origin within the American continent, as previously suggested by ancient DNA analyses. Strikingly, no Native American lineages were found for the Y-chromosome, for which the Eurasian and African contributions were around 80% and 20%, respectively. Conclusion While the ancestral Native American substrate is still appreciable in the maternal lineages, the extensive process of population admixture in Cuba has left no trace of the paternal Native American lineages, mirroring the strong sexual bias in the admixture processes taking place during colonial times.

Religion, Convention, and Paternal Involvement.

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Wilcox, W. Bradford

2002-01-01

Examines the influence of religious affiliation and attendance on the involvement of residential fathers in one-on-one activities, dinner with their families, and youth activities and found religious effects for each of these three measures. The study indicates that religion is related to paternal involvement in all three areas that were examined.…

Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus

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Spotila, L.D.; Sereda, L.; Prockop, D.J. (Jefferson Medical College, Philadelphia, PA (United States))

1992-12-01

Uniparental disomy for chromosome 7 has been described previously in two individuals with cystic fibrosis. Here, the authors describe a third case that was discovered because the proband was homozygous for a mutation in the COL1A2 gene for type I procollagen, although his mother was heterozygous and his father did not have the mutation. Phenotypically, the proband was similar to the two previously reported cases with uniparental disomy for chromosome 7, in that he was short in stature and growth retarded. Paternity was assessed with five polymorphic markers. Chromosome 7 inheritance in the proband was analyzed using 12 polymorphic markers distributed along the entire chromosome. Similar analysis of the proband's two brothers established the phase of the alleles at the various loci, assuming minimal recombination. The proband inherited only maternal alleles at five loci and was homozygous at all loci examined, except one. He was heterozygous for an RFLP at the IGBP-1 locus at 7p13-p12. The results suggest that the isodisomy was not complete because of a recombination event involving the proximal short arms of two maternal chromosomes. In addition, the phenotype of proportional dwarfism in the proband suggests imprinting of one or more growth-related genes on chromosome 7. 42 refs., 5 figs., 3 tabs.

High Correlated Paternity Leads to Negative Effects on Progeny Performance in Two Mediterranean Shrub Species.

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Sofia Nora

Full Text Available Anthropogenic habitat deterioration can promote changes in plant mating systems that subsequently may affect progeny performance, thereby conditioning plant recruitment for the next generation. However, very few studies yet tested mating system parameters other than outcrossing rates; and the direct effects of the genetic diversity of the pollen received by maternal plants (i.e. correlated paternity has often been overlooked. In this study, we investigated the relation between correlated paternity and progeny performance in two common Mediterranean shrubs, Myrtus communis and Pistacia lentiscus. To do so, we collected open-pollinated progeny from selected maternal plants, calculated mating system parameters using microsatellite genotyping and conducted sowing experiments under greenhouse and field conditions. Our results showed that some progeny fitness components were negatively affected by the high correlated paternity of maternal plants. In Myrtus communis, high correlated paternity had a negative effect on the proportion and timing of seedling emergence in the natural field conditions and in the greenhouse sowing experiment, respectively. In Pistacia lentiscus, seedling emergence time under field conditions was also negatively influenced by high correlated paternity and a progeny survival analysis in the field experiment showed greater mortality of seedlings from maternal plants with high correlated paternity. Overall, we found effects of correlated paternity on the progeny performance of Myrtus communis, a self-compatible species. Further, we also detected effects of correlated paternity on the progeny emergence time and survival in Pistacia lentiscus, an obligate outcrossed species. This study represents one of the few existing empirical examples which highlight the influence that correlated paternity may exert on progeny performance in multiple stages during early seedling growth.

Beyond Boys' Bad Behavior: Paternal Incarceration and Cognitive Development in Middle Childhood.

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Haskins, Anna R

2016-12-07

A growing number of American school-aged children have incarcerated or formally incarcerated parents necessitating a more comprehensive understanding of the intergenerational effects of mass imprisonment. Using the Fragile Families Study, I assess whether having an incarcerated father impacts children's cognitive skill development into middle childhood. While previous studies have primarily found effects for boys' behavior problems, matching models and sensitivity analyses demonstrate that experiencing paternal incarceration by age 9 is associated with lower cognitive skills for both boys and girls and these negative effects hold net of a pre-paternal incarceration measure of child cognitive ability. Moreover, I estimate that paternal incarceration explains between 2 and 15 percent of the Black-White achievement gap at age 9. These findings represent new outcomes of importance and suggest that paternal incarceration may play an even larger role in the production of intergenerational inequalities for American children than previously documented.

Paternal Hostility and Maternal Hostility in European American and African American Families.

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Wu, Ed Y; Reeb, Ben T; Martin, Monica J; Gibbons, Frederick X; Simons, Ronald L; Conger, Rand D

2014-06-01

The authors examined the hypothesized influence of maternal and paternal hostility on youth delinquency over time. The investigation addressed significant gaps in earlier research on parental hostility, including the neglect of father effects, especially in African American families. Using prospective, longitudinal data from community samples of European American (n = 422) and African American (n = 272) 2-parent families, the authors examined the independent effects of paternal and maternal hostility on youth delinquency. The results indicated that paternal hostility significantly predicted relative increases in youth delinquent behaviors above and beyond the effects of maternal hostility; conversely, maternal hostility did not predict youth delinquency after controlling for paternal hostility. Multiple-group analyses yielded similar results for both ethnic groups and for boys and girls. These results underscore the importance of including both parents in research on diverse families. Neglecting fathers provides an incomplete account of parenting in relation to youth development.

Beyond Boys’ Bad Behavior: Paternal Incarceration and Cognitive Development in Middle Childhood

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Haskins, Anna R.

2017-01-01

A growing number of American school-aged children have incarcerated or formally incarcerated parents necessitating a more comprehensive understanding of the intergenerational effects of mass imprisonment. Using the Fragile Families Study, I assess whether having an incarcerated father impacts children’s cognitive skill development into middle childhood. While previous studies have primarily found effects for boys’ behavior problems, matching models and sensitivity analyses demonstrate that experiencing paternal incarceration by age 9 is associated with lower cognitive skills for both boys and girls and these negative effects hold net of a pre-paternal incarceration measure of child cognitive ability. Moreover, I estimate that paternal incarceration explains between 2 and 15 percent of the Black-White achievement gap at age 9. These findings represent new outcomes of importance and suggest that paternal incarceration may play an even larger role in the production of intergenerational inequalities for American children than previously documented. PMID:28579646

Human X-chromosome inactivation pattern distributions fit a model of genetically influenced choice better than models of completely random choice

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Renault, Nisa K E; Pritchett, Sonja M; Howell, Robin E; Greer, Wenda L; Sapienza, Carmen; Ørstavik, Karen Helene; Hamilton, David C

2013-01-01

In eutherian mammals, one X-chromosome in every XX somatic cell is transcriptionally silenced through the process of X-chromosome inactivation (XCI). Females are thus functional mosaics, where some cells express genes from the paternal X, and the others from the maternal X. The relative abundance of the two cell populations (X-inactivation pattern, XIP) can have significant medical implications for some females. In mice, the ‘choice' of which X to inactivate, maternal or paternal, in each cell of the early embryo is genetically influenced. In humans, the timing of XCI choice and whether choice occurs completely randomly or under a genetic influence is debated. Here, we explore these questions by analysing the distribution of XIPs in large populations of normal females. Models were generated to predict XIP distributions resulting from completely random or genetically influenced choice. Each model describes the discrete primary distribution at the onset of XCI, and the continuous secondary distribution accounting for changes to the XIP as a result of development and ageing. Statistical methods are used to compare models with empirical data from Danish and Utah populations. A rigorous data treatment strategy maximises information content and allows for unbiased use of unphased XIP data. The Anderson–Darling goodness-of-fit statistics and likelihood ratio tests indicate that a model of genetically influenced XCI choice better fits the empirical data than models of completely random choice. PMID:23652377

Paternal depression in the postnatal period and child development: mediators and moderators.

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Gutierrez-Galve, Leticia; Stein, Alan; Hanington, Lucy; Heron, Jon; Ramchandani, Paul

2015-02-01

To explore potential mediating and moderating factors that influence the association between paternal depression in the postnatal period and subsequent child behavioral and emotional problems. A population-based cohort (N = 13,822) from the Avon Longitudinal Study of Parents and Children (ALSPAC) was recruited during pregnancy. Paternal and maternal depressive symptoms were assessed with the Edinburgh Postnatal Depression Scale at 8 weeks after the birth of the child. Child outcomes were assessed at 3.5 years by using the Rutter revised preschool scales and at 7 years by using the Strengths and Difficulties Questionnaire. Path analysis was used to assess hypothesized mediators (ie, depression in the other parent, couple conflict, and paternal noninvolvement) of the associations between both paternal and maternal depression and child outcomes. We also tested for hypothesized moderators (ie, paternal education and antisocial traits). Family factors (maternal depression and couple conflict) mediated two-thirds of the overall association between paternal depression and child outcomes at 3.5 years. Similar findings were seen when children were 7 years old. In contrast, family factors mediated less than one-quarter of the association between maternal depression and child outcomes. There was no evidence of moderating effects of either parental education or antisocial traits. The majority of the association between depression in fathers postnatally and subsequent child behavior is explained by the mediating role of family environment, whereas the association between depression in mothers and child outcomes appears to be better explained by other factors, perhaps including direct mother-infant interaction. Copyright © 2015 by the American Academy of Pediatrics.

Cues of Paternal Uncertainty and Father to Child Physical Abuse as Reported by Mothers in Rio de Janeiro, Brazil

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Alexandre, Gisele Caldas; Nadanovsky, Paulo; Wilson, Margo; Daly, Martin; Moraes, Claudia Leite; Reichenheim, Michael

2011-01-01

Objective: Paternity is uncertain, so if paternal feelings evolved to promote fitness, we might expect them to vary in response to variables indicative of paternity probability. We therefore hypothesized that the risk of lapses of paternal affection, including abusive assaults on children, will be exacerbated by cues of non-paternity. Methods:…

Clinical features and molecular genetic analysis of a boy with Prader-Willi syndrome caused by an imprinting defect

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Schulze, A; Hansen, Claus; Baekgaard, P

1997-01-01

Prader-Willi syndrome (PWS) is a neuroendocrine disorder caused by a non-functioning paternally derived gene(s) within the chromosome region 15q11-q13. Most cases result from microscopically visible deletions of paternal origin, or maternal uniparental disomy of chromosome 15. In both instances n...

Individual variation in paternal responses of virgin male California mice (Peromyscus californicus): behavioral and physiological correlates

NARCIS (Netherlands)

de Jong, T.R.; Korosi, A.; Harris, B.N.; Perea-Rodriguez, J.P.; Saltzman, W.

2012-01-01

California mice Peromyscus californicus are a rodent species in which fathers provide extensive paternal care; however, behavioral responses of virgin males toward conspecific neonates vary from paternal behavior to tolerance to infanticide. Indirect evidence suggests that paternal responses might

Parental Divorce, Maternal-Paternal Alcohol Problems, and Adult Offspring Lifetime Alcohol Dependence.

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Thompson, Ronald G; Alonzo, Dana; Hasin, Deborah S

2013-01-01

This study examined the influences of parental divorce and maternal-paternal histories of alcohol problems on adult offspring lifetime alcohol dependence using data from the 2001-2002 National Epidemiological Survey on Alcohol and Related Conditions (NESARC). Parental divorce and maternal-paternal alcohol problems interacted to differentially influence the likelihood of offspring lifetime alcohol dependence. Experiencing parental divorce and either maternal or paternal alcohol problems doubled the likelihood of alcohol dependence. Divorce and history of alcohol problems for both parents tripled the likelihood. Offspring of parental divorce may be more vulnerable to developing alcohol dependence, particularly when one or both parents have alcohol problems.

Discovering misattributed paternity in genetic counselling: different ethical perspectives in two countries.

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Tozzo, Pamela; Caenazzo, Luciana; Parker, Michael J

2014-03-01

Misattributed paternity or 'false' paternity is when a man is wrongly thought, by himself and possibly by others, to be the biological father of a child. Nowadays, because of the progression of genetics and genomics the possibility of finding misattributed paternity during familial genetic testing has increased. In contrast to other medical information, which pertains primarily to individuals, information obtained by genetic testing and/or pedigree analysis necessarily has implications for other biologically related members in the family. Disclosing or not a misattributed paternity has a number of different biological and social consequences for the people involved. Such an issue presents important ethical and deontological challenges. The debate centres on whether or not to inform the family and, particularly, whom in the family, about the possibility that misattributed paternity might be discovered incidentally, and whether or not it is the duty of the healthcare professional (HCP) to disclose the results and to whom. In this paper, we consider the different perspectives and reported problems, and analyse their cultural, ethical and legal dimensions. We compare the position of HCPs from an Italian and British point of view, particularly their role in genetic counselling. We discuss whether the Oviedo Convention of the Council of Europe (1997) can be seen as a basis for enriching the debate.

Is There an Association between Advanced Paternal Age and Endophenotype Deficit Levels in Schizophrenia?

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Tsuang, Debby; Esterberg, Michelle; Braff, David; Calkins, Monica; Cadenhead, Kristin; Dobie, Dorcas; Freedman, Robert; Green, Michael F.; Greenwood, Tiffany; Gur, Raquel; Gur, Ruben; Horan, William; Lazzeroni, Laura C.; Light, Gregory A.; Millard, Steven P.; Olincy, Ann; Nuechterlein, Keith; Seidman, Larry; Siever, Larry; Silverman, Jeremy; Stone, William; Sprock, Joyce; Sugar, Catherine; Swerdlow, Neal; Tsuang, Ming; Turetsky, Bruce; Radant, Allen

2014-01-01

The children of older fathers have increased risks of developing schizophrenia spectrum disorders, and among those who develop these disorders, those with older fathers present with more severe clinical symptoms. However, the influence of advanced paternal age on other important domains related to schizophrenia, such as quantitative endophenotype deficit levels, remains unknown. This study investigated the associations between paternal age and level of endophenotypic impairment in a well-characterized family-based sample from the Consortium on the Genetics of Schizophrenia (COGS). All families included at least one affected subject and one unaffected sibling. Subjects met criteria for schizophrenia (probands; n = 293) or were unaffected first-degree siblings of those probands (n = 382). Paternal age at the time of subjects’ birth was documented. Subjects completed a comprehensive clinical assessment and a battery of tests that measured 16 endophenotypes. After controlling for covariates, potential paternal age–endophenotype associations were analyzed using one model that included probands alone and a second model that included both probands and unaffected siblings. Endophenotype deficits in the Identical Pairs version of the 4-digit Continuous Performance Test and in the Penn Computerized Neurocognitive Battery verbal memory test showed significant associations with paternal age. However, after correcting for multiple comparisons, no endophenotype was significantly associated with paternal age. These findings suggest that factors other than advanced paternal age at birth may account for endophenotypic deficit levels in schizophrenia. PMID:24523888

Is there an association between advanced paternal age and endophenotype deficit levels in schizophrenia?

Science.gov (United States)

Tsuang, Debby; Esterberg, Michelle; Braff, David; Calkins, Monica; Cadenhead, Kristin; Dobie, Dorcas; Freedman, Robert; Green, Michael F; Greenwood, Tiffany; Gur, Raquel; Gur, Ruben; Horan, William; Lazzeroni, Laura C; Light, Gregory A; Millard, Steven P; Olincy, Ann; Nuechterlein, Keith; Seidman, Larry; Siever, Larry; Silverman, Jeremy; Stone, William; Sprock, Joyce; Sugar, Catherine; Swerdlow, Neal; Tsuang, Ming; Turetsky, Bruce; Radant, Allen

2014-01-01

The children of older fathers have increased risks of developing schizophrenia spectrum disorders, and among those who develop these disorders, those with older fathers present with more severe clinical symptoms. However, the influence of advanced paternal age on other important domains related to schizophrenia, such as quantitative endophenotype deficit levels, remains unknown. This study investigated the associations between paternal age and level of endophenotypic impairment in a well-characterized family-based sample from the Consortium on the Genetics of Schizophrenia (COGS). All families included at least one affected subject and one unaffected sibling. Subjects met criteria for schizophrenia (probands; n = 293) or were unaffected first-degree siblings of those probands (n = 382). Paternal age at the time of subjects' birth was documented. Subjects completed a comprehensive clinical assessment and a battery of tests that measured 16 endophenotypes. After controlling for covariates, potential paternal age-endophenotype associations were analyzed using one model that included probands alone and a second model that included both probands and unaffected siblings. Endophenotype deficits in the Identical Pairs version of the 4-digit Continuous Performance Test and in the Penn Computerized Neurocognitive Battery verbal memory test showed significant associations with paternal age. However, after correcting for multiple comparisons, no endophenotype was significantly associated with paternal age. These findings suggest that factors other than advanced paternal age at birth may account for endophenotypic deficit levels in schizophrenia.

Is there an association between advanced paternal age and endophenotype deficit levels in schizophrenia?

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Debby Tsuang

Full Text Available The children of older fathers have increased risks of developing schizophrenia spectrum disorders, and among those who develop these disorders, those with older fathers present with more severe clinical symptoms. However, the influence of advanced paternal age on other important domains related to schizophrenia, such as quantitative endophenotype deficit levels, remains unknown. This study investigated the associations between paternal age and level of endophenotypic impairment in a well-characterized family-based sample from the Consortium on the Genetics of Schizophrenia (COGS. All families included at least one affected subject and one unaffected sibling. Subjects met criteria for schizophrenia (probands; n = 293 or were unaffected first-degree siblings of those probands (n = 382. Paternal age at the time of subjects' birth was documented. Subjects completed a comprehensive clinical assessment and a battery of tests that measured 16 endophenotypes. After controlling for covariates, potential paternal age-endophenotype associations were analyzed using one model that included probands alone and a second model that included both probands and unaffected siblings. Endophenotype deficits in the Identical Pairs version of the 4-digit Continuous Performance Test and in the Penn Computerized Neurocognitive Battery verbal memory test showed significant associations with paternal age. However, after correcting for multiple comparisons, no endophenotype was significantly associated with paternal age. These findings suggest that factors other than advanced paternal age at birth may account for endophenotypic deficit levels in schizophrenia.

Testosterone and paternal care in East African foragers and pastoralists

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Muller, Martin N.; Marlowe, Frank W.; Bugumba, Revocatus; Ellison, Peter T.

2008-01-01

The ‘challenge hypothesis’ posits that testosterone facilitates reproductive effort (investment in male–male competition and mate-seeking) at the expense of parenting effort (investment in offspring and mates). Multiple studies, primarily in North America, have shown that men in committed relationships, fathers, or both maintain lower levels of testosterone than unpaired men. Data from non-western populations, however, show inconsistent results. We hypothesized that much of this cross-cultural variation can be attributed to differential investment in mating versus parenting effort, even among married fathers. Here, we directly test this idea by comparing two neighbouring Tanzanian groups that exhibit divergent styles of paternal involvement: Hadza foragers and Datoga pastoralists. We predicted that high levels of paternal care by Hadza fathers would be associated with decreased testosterone in comparison with non-fathers, and that no such difference between fathers and non-fathers would be evident in Datoga men, who provide minimal direct paternal care. Twenty-seven Hadza men and 80 Datoga men between the ages of 17 and 60 provided morning and afternoon saliva samples from which testosterone was assayed. Measurements in both populations confirmed these predictions, adding further support to the hypothesis that paternal care is associated with decreased testosterone production in men. PMID:18826936

Construction of a DNA library representing 15q11-13 by subtraction of two flow sorted marker chromosome-specific libraries

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Blennow, E.; Werelius, B.; Nordenskjoeld, M. [Karolinska Hospital, Stockholm (Sweden)] [and others

1994-09-01

Constitutional extra {open_quotes}marker chromosomes{close_quotes} are found in {approx}0.5/1000 of newborns. Of these, 50% are inverted duplications of the pericentromeric region of chromosome 15, including two variants; (1) inv dup(15)(pter{yields}q11:q11{yields}pter) and (2) inv dup(15) (pter{yields}q12-13::q12-13{yields}pter). Variant (1) is found in phenotypically normal individuals, whereas variant (2) will produce a typical clinical picture including mental retardation, autism, hyperactivity and discrete dysmorphic features. Fluorescence in situ hybridization (FISH) using single copy probes from the Prader-Willi region confirms these observations as well as chromosome painting using a flow-sorted marker chromosome-specific library from a variant (1) marker, hybridized to the chromosomes of a patient with a variant (2) marker chromosome. Followingly, a flow-sorted biotinylated variant (1) library was subtracted from a non-labeled variant (2) library using magnetic beads and subsequent amplification by degenerate oligonucleotide-primed PCR (DOP-PCR). The successful result was demonstrated by using the amplified material for chromosome painting on chromosome slides from variant (1) and variant (2) patients. We have constructed a library from 15q11-13. This region contains genes producing a specific abnormal phenotype when found in a tri- or tetrasomic state. The region also contains the genes responsible for the Prader-Willi and Angelman syndromes when the paternal/maternal copy is missing, respectively. It is therefore a region where parental imprinting plays an important role. The isolated library may be used to isolate single copy clones which will allow further investigations of this region.

Transgenerational inheritance of heart disorders caused by paternal bisphenol A exposure

International Nuclear Information System (INIS)

Lombó, Marta; Fernández-Díez, Cristina; González-Rojo, Silvia; Navarro, Claudia; Robles, Vanesa; Herráez, María Paz

2015-01-01

Bisphenol A (BPA) is an endocrine disruptor used in manufacturing of plastic devices, resulting in an ubiquitous presence in the environment linked to human infertility, obesity or cardiovascular diseases. Both transcriptome and epigenome modifications lie behind these disorders that might be inherited transgenerationally when affecting germline. To assess potential effects of paternal exposure on offspring development, adult zebrafish males were exposed to BPA during spermatogenesis and mated with non-treated females. Results showed an increase in the rate of heart failures of progeny up to the F2, as well as downregulation of 5 genes involved in cardiac development in F1 embryos. Moreover, BPA causes a decrease in F0 and F1 sperm remnant mRNAs related to early development. Results reveal a paternal inheritance of changes in the insulin signaling pathway due to downregulation of insulin receptor β mRNAs, suggesting a link between BPA male exposure and disruption of cardiogenesis in forthcoming generations. - Highlights: • We examine the effects of adult male exposure to BPA on the progeny (F1 and F2). • Paternal exposure promotes similar cardiac malformations to those caused by direct exposure. • BPA applied during spermatogenesis decrease the insra and insrb transcripts in spermatozoa. • Sperm insrb transcript controls embryonic expression being the downregulation inherited by F1. • Paternal BPA exposure impairs heart development in F1 and F2 disrupting insulin signaling pathway. - Paternal bisphenol A exposure impairs cardiac development throughout generations.

Association of missing paternal demographics on infant birth certificates with perinatal risk factors for childhood obesity

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Erika R. Cheng

2016-07-01

Full Text Available Abstract Background The role of fathers in the development of obesity in their offspring remains poorly understood. We evaluated associations of missing paternal demographic information on birth certificates with perinatal risk factors for childhood obesity. Methods Data were from the Linked CENTURY Study, a database linking birth certificate and well-child visit data for 200,258 Massachusetts children from 1980–2008. We categorized participants based on the availability of paternal age, education, or race/ethnicity and maternal marital status on the birth certificate: (1 pregnancies missing paternal data; (2 pregnancies involving unmarried women with paternal data; and (3 pregnancies involving married women with paternal data. Using linear and logistic regression, we compared differences in smoking during pregnancy, gestational diabetes, birthweight, breastfeeding initiation, and ever recording a weight for length (WFL ≥ the 95th percentile or crossing upwards ≥2 WFL percentiles between 0–24 months among the study groups. Results 11,989 (6.0 % birth certificates were missing paternal data; 31,323 (15.6 % mothers were unmarried. In adjusted analyses, missing paternal data was associated with lower birthweight (β -0.07 kg; 95 % CI: −0.08, −0.05, smoking during pregnancy (AOR 4.40; 95 % CI: 3.97, 4.87, non-initiation of breastfeeding (AOR 0.39; 95 % CI: 0.36, 0.42, and with ever having a WFL ≥ 95th percentile (AOR 1.10; 95 % CI: 1.01, 1.20. Similar associations were noted for pregnancies involving unmarried women with paternal data, but differences were less pronounced. Conclusions Missing paternal data on the birth certificate is associated with perinatal risk factors for childhood obesity. Efforts to understand and reduce obesity risk factors in early life may need to consider paternal factors.

Deep into the roots of the Libyan Tuareg: a genetic survey of their paternal heritage.

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Ottoni, Claudio; Larmuseau, Maarten H D; Vanderheyden, Nancy; Martínez-Labarga, Cristina; Primativo, Giuseppina; Biondi, Gianfranco; Decorte, Ronny; Rickards, Olga

2011-05-01

Recent genetic studies of the Tuareg have begun to uncover the origin of this semi-nomadic northwest African people and their relationship with African populations. For centuries they were caravan traders plying the trade routes between the Mediterranean coast and south-Saharan Africa. Their origin most likely coincides with the fall of the Garamantes who inhabited the Fezzan (Libya) between the 1st millennium BC and the 5th century AD. In this study we report novel data on the Y-chromosome variation in the Libyan Tuareg from Al Awaynat and Tahala, two villages in Fezzan, whose maternal genetic pool was previously characterized. High-resolution investigation of 37 Y-chromosome STR loci and analysis of 35 bi-allelic markers in 47 individuals revealed a predominant northwest African component (E-M81, haplogroup E1b1b1b) which likely originated in the second half of the Holocene in the same ancestral population that contributed to the maternal pool of the Libyan Tuareg. A significant paternal contribution from south-Saharan Africa (E-U175, haplogroup E1b1a8) was also detected, which may likely be due to recent secondary introduction, possibly through slavery practices or fusion between different tribal groups. The difference in haplogroup composition between the villages of Al Awaynat and Tahala suggests that founder effects and drift played a significant role in shaping the genetic pool of the Libyan Tuareg. Copyright © 2011 Wiley-Liss, Inc.

X-ray induction of autosomal translocations in spermatozoa of Drosophila melanogaster and maternal effects of X.Y-chromosomes

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Leigh, B.

1979-01-01

Wild-type ORK Drosophila melanogaster males were given an exposure of 3000 R X-radiation. Mature sperm were then sampled by mating to X.Y/X.Y, X.Y/X, or X/X females that carried markers on the second and third chromosomes for the detection of induced autosomal translocations. Two pairs of maternal stocks were used and heterozygous X.Y/X females were obtained by making both reciprocal crosses. The highest frequencies of induced translocations were obtained with X/X females. In one series these frequencies are higher than those obtained with either X.Y/X or X.Y/X.Y females. In the other series a uniform frequency of translocations was obtained with all types of female, except for one of the two types of heterozygous female, which gave lower frequencies. The experiments have provided data which show that the addition of Y-chromosomes to the maternal genome does not have a specific effect on the recovery of induced paternal autosomal translocations. Maternal Y-chromosomes increased the proportions of fertile F 1 males, this effect being consistent in direction but varying in degree. (Auth.)

To Break or Not To Break: Sex Chromosome Hemizygosity During Meiosis in Caenorhabditis.

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Van, Mike V; Larson, Braden J; Engebrecht, JoAnne

2016-11-01

Meiotic recombination establishes connections between homologous chromosomes to promote segregation. Hemizygous regions of sex chromosomes have no homologous chromosome to recombine with, yet must be transmitted through meiosis. An extreme case of hemizygosity exists in the genus Caenorhabditis, where males have a single X chromosome that completely lacks a homologous partner. To determine whether similar strategies have evolved to accommodate hemizygosity of the X during male meiosis in Caenorhabditis with distinct modes of sexual reproduction, we examined induction and processing of meiotic double strand breaks (DSBs) in androdioecious (hermaphrodite/male) Caenorhabditis elegans and C. briggsae, and gonochoristic (female/male) C. remanei and C. brenneri Analysis of the recombinase RAD-51 suggests more meiotic DSBs are induced in gonochoristic vs. androdioecious species. However, in late prophase in all species, chromosome pairs are restructured into bivalents around a single axis, suggesting that the holocentric nature of Caenorhabditis chromosomes dictates a single crossover per bivalent regardless of the number of DSBs induced. Interestingly, RAD-51 foci were readily observed on the X chromosome of androdioecious male germ cells, while very few were detected in gonochoristic male germ cells. As in C. elegans, the X chromosome in C. briggsae male germ cells undergoes transient pseudosynapsis and flexibility in DSB repair pathway choice. In contrast, in C. remanei and C. brenneri male germ cells, the X chromosome does not undergo pseudosynapsis and appears refractory to SPO-11-induced breaks. Together our results suggest that distinct strategies have evolved to accommodate sex chromosome hemizygosity during meiosis in closely related Caenorhabditis species. Copyright © 2016 by the Genetics Society of America.

Chinese Preschool Children’s Socioemotional Development: The Effects of Maternal and Paternal Psychological Control

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Shufen Xing

2017-10-01

Full Text Available The present study examined the relative prediction and joint effects of maternal and paternal psychological control on children’s socioemotional development. A total of 325 preschool children between the ages of 34 and 57 months (M = 4 years 2 months and their parents participated in the study. Fathers and mothers, respectively, reported their levels of psychological control and mothers evaluated the socioemotional development of children using two indicators (i.e., behavioral problems and prosocial behaviors. The results indicated that the relative predictive effects of maternal and paternal psychological control on children’s socioemotional development differed. Specifically, maternal psychological control was a significant predictor of children’s behavioral problems and prosocial behaviors, whereas the levels of paternal psychological control were unrelated to children’s socioemotional development. With regard to the combined effects of maternal and paternal psychological control, the results of ANOVAs and simple slope analysis both indicated that children would be at risk of behavioral problems as long as they had one highly psychologically controlling parent. High levels of paternal psychological control were associated with increased behavioral problems of children only when maternal psychological control was low. However, the association between maternal psychological control and children’s behavioral behaviors was significant, despite paternal psychological control.

Maternal or paternal suicide and offspring's psychiatric and suicide-attempt hospitalization risk.

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Kuramoto, S Janet; Stuart, Elizabeth A; Runeson, Bo; Lichtenstein, Paul; Långström, Niklas; Wilcox, Holly C

2010-11-01

We examined whether the risk for psychiatric morbidity requiring inpatient care was higher for offspring who experienced parental suicide, compared with offspring of fatal accident decedents, and whether the association varied according to the deceased parent's gender. Children and adolescents (0-17 years of age) who experienced maternal (N = 5600) or paternal (N = 17,847) suicide in 1973-2003 in Sweden were identified by using national, longitudinal, population-based registries. Cox regression modeling was used to compare psychiatric hospitalization risks among offspring of suicide decedents and propensity score-matched offspring of accident decedents. Offspring of maternal suicide decedents had increased risk of suicide-attempt hospitalization, after controlling for psychiatric hospitalization for decedents and surviving parents, compared with offspring of maternal accidental decedents. Offspring of paternal suicide decedents had similar risk of suicide-attempt hospitalization, compared with offspring of accident decedents, but had increased risk of hospitalization attributable to depressive and anxiety disorders. The magnitude of risks for offspring suicide-attempt hospitalization was greater for those who experienced maternal versus paternal suicide, compared with their respective control offspring (interaction P = .05; offspring of maternal decedents, adjusted hazard ratio: 1.80 [95% confidence interval: 1.19-2.74]; offspring of paternal decedents, adjusted hazard ratio: 1.14 [95% confidence interval: 0.96-1.35]). Maternal suicide is associated with increased risk of suicide-attempt hospitalization for offspring, beyond the risk associated with maternal accidental death. However, paternal suicide is not associated with suicide-attempt hospitalization. Future studies should examine factors that might differ between offspring who experience maternal versus paternal suicide, including genetic or early environmental determinants.

Decrease in the CGG{sub n} trinucleotide repeat mutation of the fragile X syndrome to normal size range during paternal transmission

Energy Technology Data Exchange (ETDEWEB)

Vaeisaenen, M.L.; Haataja, R.; Leisti, J. [Oulu Univ. Hospital (Finland)

1996-09-01

The fragile X syndrome, the most common inherited form of mental retardation, is caused by the expansion of a CGG{sub n} trinucleotide repeat in the FMR-1 gene. Although the repeat number usually increases during transmission, few cases with reduction of an expanded CGG{sub n} repeat back to the normal size range have been reported. We describe for the first time a family in which such reduction has occurred in the paternal transmission. The paternal premutation ({Delta} = 300 hp) was not detected in one of the five daughters or in the son of this daughter, although he had the grandpaternal RFLP haplotype. Instead, fragments indicating the normal CGG{sub n} repeat size were seen on a Southern blot probed with StB12.3. PCR analysis of the CGG{sub n} repeat confirmed this; in addition to a maternal allele of 30 repeats, an allele of 34 repeats was detected in the daughter and, further, in her son. Sequencing of this new allele revealed a pure CGG{sub n} repeat configuration without AGG interruptions. No evidence for a somatic mosaicism of a premutation allele in the daughter or a normal allele in her father was detected when investigating DNA derived from blood lymphocytes and skin fibroblasts. Another unusual finding in this family was lack of the PCR product of the microsatellite marker RS46 (DXS548) in one of the grandmaternal X chromosomes, detected as incompatible inheritance of RS46 alleles. The results suggest an intergenerational reduction in the CGG{sub n} repeat from premutation size to the normal size range and stable transmission of the contracted repeat to the next generation. However, paternal germ-line mosaicism could not be excluded as an alternative explanation for the reverse mutation. 37 refs., 4 figs.

Mutation risk associated with paternal and maternal age in a cohort of retinoblastoma survivors.

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Mills, Melissa B; Hudgins, Louanne; Balise, Raymond R; Abramson, David H; Kleinerman, Ruth A

2012-07-01

Autosomal dominant conditions are known to be associated with advanced paternal age, and it has been suggested that retinoblastoma (Rb) also exhibits a paternal age effect due to the paternal origin of most new germline RB1 mutations. To further our understanding of the association of parental age and risk of de novo germline RB1 mutations, we evaluated the effect of parental age in a cohort of Rb survivors in the United States. A cohort of 262 Rb patients was retrospectively identified at one institution, and telephone interviews were conducted with parents of 160 survivors (65.3%). We classified Rb survivors into three groups: those with unilateral Rb were classified as sporadic if they had no or unknown family history of Rb, those with bilateral Rb were classified as having a de novo germline mutation if they had no or unknown family history of Rb, and those with unilateral or bilateral Rb, who had a family history of Rb, were classified as familial. We built two sets of nested logistic regression models to detect an increased odds of the de novo germline mutation classification related to older parental age compared to sporadic and familial Rb classifications. The modeling strategy evaluated effects of continuous increasing maternal and paternal age and 5-year age increases adjusted for the age of the other parent. Mean maternal ages for survivors classified as having de novo germline mutations and sporadic Rb were similar (28.3 and 28.5, respectively) as were mean paternal ages (31.9 and 31.2, respectively), and all were significantly higher than the weighted general US population means. In contrast, maternal and paternal ages for familial Rb did not differ significantly from the weighted US general population means. Although we noted no significant differences between mean maternal and paternal ages between each of the three Rb classification groups, we found increased odds of a survivor being in the de novo germline mutation group for each 5-year increase in

Parents' Relative Socioeconomic Status and Paternal Involvement in Chinese Families: The Mediating Role of Coparenting.

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Liu, Chang; Wu, Xinchun; Zou, Shengqi

2016-01-01

This study examined the mediating role of coparenting in the association between differences/similarities in paternal and maternal socioeconomic status (SES) and paternal involvement in Chinese families. The sample included 244 couples with children aged 3-7 years. Fathers and mothers reported their individual incomes, educational levels, occupations, and coparenting behavior (measured using the Coparenting Scale), and fathers completed the Father Involvement Questionnaire. Structural equation modeling was performed to examine the associations between SES and paternal involvement. Results suggested that SES indicator measures were outcome specific. Occupational differences/similarities were associated with paternal involvement indirectly, via fathers' family integrity practices. Income and educational differences/similarities did not affect paternal involvement. The results suggested that the traditional Chinese view that "men are chiefly responsible for activity in society, while women are responsible for the home" has faded.

Y-chromosome phylogeny in the evolutionary net of chamois (genus Rupicapra

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Domínguez Ana

2011-09-01

that, contrary to the presumed Asian origin, the paternal lineage of chamois originated in the Mediterranean, most probably in the Iberian Peninsula, and dispersed eastwards through serial funding events during the glacial-interglacial cycles of the Quaternary. The diversity of Y-chromosomes in chamois is very low. The differences in patterns of variation among Y-chromosome, mtDNA and biparental microsatellites reflect the evolutionary characteristics of the different markers as well as the effects of sex-biased dispersal and species phylogeography.

45 CFR 303.5 - Establishment of paternity.

Science.gov (United States)

2010-10-01

... paternity in any case involving incest or forcible rape, or in any case in which legal proceedings for... through video or audio equipment, and in writing, of the alternatives to, the legal consequences of, and...

Directional migration in the Hindu castes: inferences from mitochondrial, autosomal and Y-chromosomal data.

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Wooding, Stephen; Ostler, Christopher; Prasad, B V Ravi; Watkins, W Scott; Sung, Sandy; Bamshad, Mike; Jorde, Lynn B

2004-08-01

Genetic, ethnographic, and historical evidence suggests that the Hindu castes have been highly endogamous for several thousand years and that, when movement between castes does occur, it typically consists of females joining castes of higher social status. However, little is known about migration rates in these populations or the extent to which migration occurs between caste groups of low, middle, and high social status. To investigate these aspects of migration, we analyzed the largest collection of genetic markers collected to date in Hindu caste populations. These data included 45 newly typed autosomal short tandem repeat polymorphisms (STRPs), 411 bp of mitochondrial DNA sequence, and 43 Y-chromosomal single-nucleotide polymorphisms that were assayed in more than 200 individuals of known caste status sampled in Andrah Pradesh, in South India. Application of recently developed likelihood-based analyses to this dataset enabled us to obtain genetically derived estimates of intercaste migration rates. STRPs indicated migration rates of 1-2% per generation between high-, middle-, and low-status caste groups. We also found support for the hypothesis that rates of gene flow differ between maternally and paternally inherited genes. Migration rates were substantially higher in maternally than in paternally inherited markers. In addition, while prevailing patterns of migration involved movement between castes of similar rank, paternally inherited markers in the low-status castes were most likely to move into high-status castes. Our findings support earlier evidence that the caste system has been a significant, long-term source of population structuring in South Indian Hindu populations, and that patterns of migration differ between males and females. Copyright 2004 Springer-Verlag

Paternal occupation and birth defects: findings from the National Birth Defects Prevention Study.

NARCIS (Netherlands)

Desrosiers, T.A.; Herring, A.H.; Shapira, S.K.; Hooiveld, M.; Luben, T.J.; Herdt-Losavio, M.L.; Lin, S.; Olshan, A.F.

2012-01-01

Objectives: Several epidemiological studies have suggested that certain paternal occupations may be associated with an increased prevalence of birth defects in offspring. Using data from the National Birth Defects Prevention Study, the authors investigated the association between paternal occupation

Taiwan Y-chromosomal DNA variation and its relationship with Island Southeast Asia

Science.gov (United States)

2014-01-01

Background Much of the data resolution of the haploid non-recombining Y chromosome (NRY) haplogroup O in East Asia are still rudimentary and could be an explanatory factor for current debates on the settlement history of Island Southeast Asia (ISEA). Here, 81 slowly evolving markers (mostly SNPs) and 17 Y-chromosomal short tandem repeats were used to achieve higher level molecular resolution. Our aim is to investigate if the distribution of NRY DNA variation in Taiwan and ISEA is consistent with a single pre-Neolithic expansion scenario from Southeast China to all ISEA, or if it better fits an expansion model from Taiwan (the OOT model), or whether a more complex history of settlement and dispersals throughout ISEA should be envisioned. Results We examined DNA samples from 1658 individuals from Vietnam, Thailand, Fujian, Taiwan (Han, plain tribes and 14 indigenous groups), the Philippines and Indonesia. While haplogroups O1a*-M119, O1a1*-P203, O1a2-M50 and O3a2-P201 follow a decreasing cline from Taiwan towards Western Indonesia, O2a1-M95/M88, O3a*-M324, O3a1c-IMS-JST002611 and O3a2c1a-M133 decline northward from Western Indonesia towards Taiwan. Compared to the Taiwan plain tribe minority groups the Taiwanese Austronesian speaking groups show little genetic paternal contribution from Han. They are also characterized by low Y-chromosome diversity, thus testifying for fast drift in these populations. However, in contrast to data provided from other regions of the genome, Y-chromosome gene diversity in Taiwan mountain tribes significantly increases from North to South. Conclusion The geographic distribution and the diversity accumulated in the O1a*-M119, O1a1*-P203, O1a2-M50 and O3a2-P201 haplogroups on one hand, and in the O2a1-M95/M88, O3a*-M324, O3a1c-IMS-JST002611 and O3a2c1a-M133 haplogroups on the other, support a pincer model of dispersals and gene flow from the mainland to the islands which likely started during the late upper Paleolithic, 18,000 to 15

Multiple song features are related to paternal effort in common nightingales.

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Bartsch, Conny; Weiss, Michael; Kipper, Silke

2015-06-18

Sexual ornamentation may be related to the degree of paternal care and the 'good-parent' model predicts that male secondary characters honestly advertise paternal investment. In most birds, males are involved in bringing up the young and successful reproduction highly depends on male contribution during breeding. In passerines, male song is indicative of male attributes and for few species it has been shown that song features also signal paternal investment to females. Males of nightingales Luscinia megarhynchos are famous for their elaborate singing but so far there is only little knowledge on the role of male song in intersexual communication, and it is unknown whether male song predicts male parenting abilities. Using RFID technology to record male feeding visits to the nest, we found that nightingale males substantially contribute to chick feeding. Also, we analyzed male nocturnal song with focus on song features that have been shown to signal male quality before. We found that several song features, namely measures of song complexity and song sequencing, were correlated with male feeding rates. Moreover, the combination of these song features had strong predictive power for male contribution to nestling feeding. Since male nightingales are involved in chick rearing, paternal investment might be a crucial variable for female mate choice in this species. Females may assess future paternal care on the basis of song features identified in our study and thus these features may have evolved to signal direct benefits to females. Additionally we underline the importance of multiple acoustic cues for female mating decisions especially in species with complex song such as the nightingale.

Multiple paternity in polyandrous barn owls (Tyto alba.

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Isabelle Henry

Full Text Available In polyandrous species females produce successive clutches with several males. Female barn owls (Tyto alba often desert their offspring and mate to produce a 2(nd annual brood with a second male. We tested whether copulating during chick rearing at the 1(st annual brood increases the male's likelihood to obtain paternity at the 2(nd annual breeding attempt of his female mate in case she deserts their brood to produce a second brood with a different male. Using molecular paternity analyses we found that 2 out of 26 (8% second annual broods of deserting females contained in total 6 extra-pair young out of 15 nestlings. These young were all sired by the male with whom the female had produced the 1(st annual brood. In contrast, none of the 49 1(st annual breeding attempts (219 offspring and of the 20 2(nd annual breeding attempts (93 offspring of non-deserting females contained extra-pair young. We suggest that female desertion can select male counter-strategies to increase paternity and hence individual fitness. Alternatively, females may copulate with the 1(st male to derive genetic benefits, since he is usually of higher quality than the 2(nd male which is commonly a yearling individual.

Sex differences in life history drive evolutionary transitions among maternal, paternal, and bi-parental care.

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Klug, Hope; Bonsall, Michael B; Alonzo, Suzanne H

2013-04-01

Evolutionary transitions among maternal, paternal, and bi-parental care have been common in many animal groups. We use a mathematical model to examine the effect of male and female life-history characteristics (stage-specific maturation and mortality) on evolutionary transitions among maternal, paternal, and bi-parental care. When males and females are relatively similar - that is, when females initially invest relatively little into eggs and both sexes have similar mortality and maturation - transitions among different patterns of care are unlikely to be strongly favored. As males and females become more different, transitions are more likely. If females initially invest heavily into eggs and this reduces their expected future reproductive success, transitions to increased maternal care (paternal → maternal, paternal → bi-parental, bi-parental → maternal) are favored. This effect of anisogamy (i.e., the fact that females initially invest more into each individual zygote than males) might help explain the predominance of maternal care in nature and differs from previous work that found no effect of anisogamy on the origin of different sex-specific patterns of care from an ancestral state of no care. When male mortality is high or male egg maturation rate is low, males have reduced future reproductive potential and transitions to increased paternal care (maternal → paternal, bi-parental → paternal, maternal → bi-parental) are favored. Offspring need (i.e., low offspring survival in the absence of care) also plays a role in transitions to paternal care. In general, basic life-history differences between the sexes can drive evolutionary transitions among different sex-specific patterns of care. The finding that simple life-history differences can alone lead to transitions among maternal and paternal care suggests that the effect of inter-sexual life-history differences should be considered as a baseline scenario when attempting to understand how other

Mate guarding in the Seychelles warbler is energetically costly and adjusted to paternity risk.

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Komdeur, J

2001-10-22

Males may increase their fitness through extra-pair copulations (copulations outside the pair bond) that result in extra-pair fertilizations, but also risk lost paternity when they leave their own mate unguarded. The fitness costs of cuckoldry for Seychelles warblers (Acrocephalus sechellensis) are considerable because warblers have a single-egg clutch and, given the short breeding season, no time for a successful replacement clutch. Neighbouring males are the primary threat to a male's genetic paternity. Males minimize their loss of paternity by guarding their mates to prevent them from having extra-pair copulations during their fertile period. Here, I provide experimental evidence that mate-guarding behaviour is energetically costly and that the expression of this trade-off is adjusted to paternity risk (local male density). Free-living males that were induced to reduce mate guarding spent significantly more time foraging and gained significantly better body condition than control males. The larger the reduction in mate guarding, the more pronounced was the increase in foraging and body condition (accounting for food availability). An experimental increase in paternity risk resulted in an increase in mate-guarding intensity and a decrease in foraging and body condition, and vice versa. This is examined using both cross-sectional and longitudinal data. This study on the Seychelles warbler offers experimental evidence that mate guarding is energetically costly and adjusted to paternity risk.

The fate of paternal mitochondria in marmoset pre-implantation embryos.

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Luetjens, C M; Wesselmann, R

2008-06-01

Sperm-derived mitochondria are integrated into the oocyte at fertilization but seem to vanish during the early cleavage phase. The developmental potential of pre-implantation embryos seems to be closely related to their ability to induce degeneration of these mitochondria, but the mechanisms underlying their loss of function are not yet understood. This study focuses on the fate of paternal mitochondria in pre-implantation embryos. Stimulation, collection and in vitro culture of oocytes from Callithrix jacchus, allows the study of the destiny of paternal mitochondria by utilizing immunostaining of pre-implantation embryos, fluorescence and laserscanning microscopy. Live pre-implantation embryos were stained with a fluorescence indicator reflecting mitochondrial membrane potential. Evidence indicating the loss of mitochondrial function was not found nor that apoptosis pathways were involved in the disappearance of paternally derived mitochondria. These findings may have implications for mitochondrially inherited diseases and could lead to new strategies for improving assisted reproduction.

Advanced paternal age increases the risk of schizophrenia and obsessive-compulsive disorder in a Chinese Han population.

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Wu, Yuejing; Liu, Xiang; Luo, Hongrong; Deng, Wei; Zhao, Gaofeng; Wang, Qiang; Zhang, Lan; Ma, Xiaohong; Liu, Xiehe; Murray, Robin A; Collier, David A; Li, Tao

2012-08-15

Using the Structured Clinical Interview for DSM-IV, patient and non-patient version (SCID-P/NP), this study investigated 351 patients with schizophrenia, 122 with obsessive-compulsive disorder (OCD), and 238 unrelated healthy volunteers in a Chinese Han population. The relative risks posed by advanced paternal age for schizophrenia and OCD in offspring were computed under logistic regression analyses and adjusted for the participant's sex, age and co-parent age at birth. Compared to the offspring with paternal age of 25-29 years old, the relative risks rose from 2.660 to 10.183 in the paternal age range of 30-34 and ≥35. The relative risks for OCD increased from 2.225 to 5.413 in 30-34 and ≥35. For offspring with paternal age of maternal age and risk for schizophrenia/OCD was not seen. Interaction analysis showed an interaction effect between paternal age and maternal age at birth. Such a tendency of risk affected by parental age for schizophrenia and OCD existed after splitting out the data of early onset patients. Sex-specific analyses found that the relative risks for schizophrenia with paternal age of 30-34 and ≥35 in male offspring were 2.407 and 10.893, and in female offspring were 3.080 and 9.659. The relative risks for OCD with paternal age of 30-34 and ≥35 in male offspring were 3.493 and 7.373, and in female offspring 2.005 and 4.404. The mean paternal age of schizophrenia/OCD patients born before the early 1980s was much greater than that of patients who were born after then. The findings illustrated that advanced paternal age is associated with increased risk for both schizophrenia and OCD in a Chinese Han population, prominently when paternal age is over 35. Biological and non-biological mechanisms may both be involved in the effects of advanced paternal age on schizophrenia and OCD. Copyright © 2012. Published by Elsevier Ireland Ltd.

Chromosome

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... St Louis, MO: Elsevier; 2017:chap 69. Taber's Medical Dictionary Online. Chromosome. www.tabers.com/tabersonline/view/Tabers-Dictionary/753321/all/chromosome?q=Chromosome&ti=0 . Accessed June 11, 2017.

Paternalistic Leadership in Korean Small and Medium Scale Enterprises: Applicability of a Turkish Paternalism Scale

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Ulaş Çakar

2015-10-01

Full Text Available Social and cultural exchange between Korea and Turkey has been rapidly increasing and is expected to be accelerated for the future. Especially business exchange is interest of many people in both countries. This paper aims to provide insights for business people in Korea and Turkey to understand each country’s cultural aspects. Among different perspectives, paternalism is focused in the study. Paternalism is an important intersection of both cultures but it did not receive much attention. Even though both Turkish and Korean leaders are paternalistic, the origin of the characteristic is based on different background. The current studies of paternalism in Korea are based on Confucianism and economic crisis whereas those of Turkey are based on nomadic history, military Coup d'Etat, complicated bureaucracy, and economic instability. Using a paternalism scale developed with Turkish sample, this study measured Korean employees’ perception on paternalism and paternalistic leadership. The results showed that the scale is applicable in Korean organizations as well.

Disrupting Dominant Discourses about Paternal Participation.

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Brownson, Chris

It is clear that the impact of paternal participation on children is overwhelmingly positive. Despite the benefits, men still lag behind women as equal and responsible contributors in childcare although their participation is increasing. This paper focuses on why men are not more involved in childcare and recognizes the ways in which…

Alterations and abnormal mitosis of wheat chromosomes induced by wheat-rye monosomic addition lines.

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Shulan Fu

Full Text Available BACKGROUND: Wheat-rye addition lines are an old topic. However, the alterations and abnormal mitotic behaviours of wheat chromosomes caused by wheat-rye monosomic addition lines are seldom reported. METHODOLOGY/PRINCIPAL FINDINGS: Octoploid triticale was derived from common wheat T. aestivum L. 'Mianyang11'×rye S. cereale L. 'Kustro' and some progeny were obtained by the controlled backcrossing of triticale with 'Mianyang11' followed by self-fertilization. Genomic in situ hybridization (GISH using rye genomic DNA and fluorescence in situ hybridization (FISH using repetitive sequences pAs1 and pSc119.2 as probes were used to analyze the mitotic chromosomes of these progeny. Strong pSc119.2 FISH signals could be observed at the telomeric regions of 3DS arms in 'Mianyang11'. However, the pSc119.2 FISH signals were disappeared from the selfed progeny of 4R monosomic addition line and the changed 3D chromosomes could be transmitted to next generation stably. In one of the selfed progeny of 7R monosomic addition line, one 2D chromosome was broken and three 4A chromosomes were observed. In the selfed progeny of 6R monosomic addition line, structural variation and abnormal mitotic behaviour of 3D chromosome were detected. Additionally, 1A and 4B chromosomes were eliminated from some of the progeny of 6R monosomic addition line. CONCLUSIONS/SIGNIFICANCE: These results indicated that single rye chromosome added to wheat might cause alterations and abnormal mitotic behaviours of wheat chromosomes and it is possible that the stress caused by single alien chromosome might be one of the factors that induced karyotype alteration of wheat.

First Birth after Sperm Selection through Discontinuous Gradient Centrifugation and Artificial Insemination from a Chromosomal Translocation Carrier

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Alexandre Rouen

2014-01-01

Full Text Available Introduction. Balanced chromosomal carriers, though usually healthy, are confronted with recurrent spontaneous abortions and malformations in the offspring. Those are related to the transmission of an abnormal, chromosomally unbalanced genotype. We evidenced that the proportion of unbalanced spermatozoa can be significantly decreased through a sperm preparation process called discontinuous gradient centrifugation (DGC. We therefore started offering intrauterine inseminations with this procedure to couples with a male translocation carriers. Case Presentation. We report the case of a 37-year-old man carrying a t(3;10(q25;p13 reciprocal translocation. He and his partner had had trouble conceiving for ten years and had four spontaneous abortions. DGC in this patient decreased the proportion of unbalanced spermatozoa from 63.6% to 52.3%. They were therefore offered intrauterine insemination with DGC, which eventually led to the birth of a healthy female child carrying the paternal translocation. Conclusion. We showed that translocation carriers could be offered intrauterine inseminations with DGC. Before this, the only two options were natural conception with prenatal diagnosis and termination of chromosomally unbalanced fetuses or preimplantation genetic diagnosis, which is a much heavier and costly procedure. We are currently offering this option through a multicentric program in France, and this is the first birth originating from it.

Young Adult South African Daughters’ Perceptions of Paternal Involvement and Nurturance

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Sonja Wessels

2014-12-01

Full Text Available This study aimed to assess current and retrospective levels of reported and desired paternal involvement experienced by young adult daughters, as well as current and retrospective levels of paternal nurturance. A sample of 89, female, third year South African Psychology students completed self-administered questionnaires, consisting of a biographical questionnaire, four Father Involvement Scales and two Nurturant Father Scales. Daughters reported their fathers as having been involved and nurturing while growing up. Although they indicated that they perceived fathers as somewhat less involved in young adulthood; they reported being satisfied with the level of father involvement. Daughters also reported high current paternal nurturance. The findings therefore indicate that a group of middle to upper middle-class South African daughters perceived their fathers as relatively involved in their lives and suggest that their fathers’ involvement extends beyond traditional father roles.

Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array.

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Izumi, Kosuke; Santani, Avni B; Deardorff, Matthew A; Feret, Holly A; Tischler, Tanya; Thiel, Brian D; Mulchandani, Surabhi; Stolle, Catherine A; Spinner, Nancy B; Zackai, Elaine H; Conlin, Laura K

2013-01-01

Prader-Willi syndrome is caused by the loss of paternal gene expression on 15q11.2-q13.2, and one of the mechanisms resulting in Prader-Willi syndrome phenotype is maternal uniparental disomy of chromosome 15. Various mechanisms including trisomy rescue, monosomy rescue, and post fertilization errors can lead to uniparental disomy, and its mechanism can be inferred from the pattern of uniparental hetero and isodisomy. Detection of a mosaic cell line provides a unique opportunity to understand the mechanism of uniparental disomy; however, mosaic uniparental disomy is a rare finding in patients with Prader-Willi syndrome. We report on two infants with Prader-Willi syndrome caused by mosaic maternal uniparental disomy 15. Patient 1 has mosaic uniparental isodisomy of the entire chromosome 15, and Patient 2 has mosaic uniparental mixed iso/heterodisomy 15. Genome-wide single-nucleotide polymorphism array was able to demonstrate the presence of chromosomally normal cell line in the Patient 1 and trisomic cell line in Patient 2, and provide the evidence that post-fertilization error and trisomy rescue as a mechanism of uniparental disomy in each case, respectively. Given its ability of detecting small percent mosaicism as well as its capability of identifying the loss of heterozygosity of chromosomal regions, genome-wide single-nucleotide polymorphism array should be utilized as an adjunct to the standard methylation analysis in the evaluation of Prader-Willi syndrome. Copyright © 2012 Wiley Periodicals, Inc.

Adolescent obesity and maternal and paternal sensitivity and monitoring.

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Neal Davis, R; Ashba, Jacqueline; Appugliese, Danielle P; Kaciroti, Niko; Corwyn, Robert F; Bradley, Robert H; Lumeng, Julie C

2011-06-01

To determine if adolescent obesity is associated with parenting characterized by lower sensitivity and lower monitoring of adolescent activities. We used data from 744 adolescents in the National Institute of Child Health and Human Development Study of Early Child Care and Youth Development. Height and weight were measured at age 15½ years and obesity defined as body mass index ≥ 95th percentile for age and sex. Maternal and paternal sensitivity were assessed by direct observation of a parent-adolescent interaction task. Maternal and paternal monitoring were assessed by parent report. Lower sensitivity and lower monitoring were each defined as the lowest quartiles. Two separate multivariate logistic regression models were created to evaluate, individually for mothers and fathers, associations of sensitivity and monitoring with adolescent obesity, controlling for adolescent sex and race, family income-to-needs ratio, and parental obesity. Fourteen percent of the adolescents were obese. Lower sensitivity was associated with adolescent obesity in the maternal parenting model (adjusted odds ratio [AOR] 2.36, 95% confidence interval [CI] 1.44-3.86, n = 709), but not paternal parenting model (AOR = 0.79, 95% CI 0.38-1.63, n = 460). Neither maternal nor paternal monitoring was associated with adolescent obesity (AOR = 1.03, 95% CI 0.63-1.68; AOR = 1.07, 95% CI 0.52-2.22, respectively). Lower maternal sensitivity, measured by direct observation of parent-adolescent interactions, was associated with adolescent obesity. Efforts to prevent and treat childhood obesity, both at the practitioner level and the community level, may be enhanced by educating parents that their reactions to their children's behaviors may have consequences related to obesity.

The relation between maternal schizophrenia and low birth weight is modified by paternal age.

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Lin, Herng-Ching; Lee, Hsin-Chien; Tang, Chao-Hsuin; Chen, Yi-Hua

2010-06-01

Paternal characteristics have never been considered in the relation between maternal schizophrenia and adverse pregnancy outcomes. The aim of our study was to consider different paternal ages while investigating the relation between maternal schizophrenia and low birth weight (LBW), using a nationwide population-based dataset. Our study used data from the 2001 to 2003 Taiwan National Health Insurance Research Dataset and birth certificate registry. A total of 543 394 singleton live births were included. We performed multivariate logistic regression analyses to explore the relation between maternal schizophrenia and the risk of LBW, taking different paternal age groups into account (aged 29 years or younger, 30 to 39 years, and 40 years and older), and after adjusting for other characteristics of infant, mother, and father as well as the difference between the parent's ages. Mothers with schizophrenia had a higher percentage of LBW infants than mothers who did not (11.8%, compared with 6.8%). For infants whose mothers had schizophrenia, the adjusted odds ratios of LBW were 1.47 (95% CI 1.02 to 2.27, P paternal age groups of 30 to 39 years and 40 years or older, respectively. However, maternal schizophrenia was not a significant predictor of LBW for infants whose fathers were aged 29 years and younger. The relation between LBW and maternal schizophrenia is modified by paternal age. More attention should be paid to the interaction of paternal characteristics and maternal psychiatric disorders in producing adverse pregnancy outcomes.

the realities surrounding the applicability of medical paternalism

African Journals Online (AJOL)

theories and arguments for and against medical paternalism, this study further ... situations yet the process of medical decision ... Poststgraduate School, Faculty of Law, University of Ilorin, Ilorin, Nigeria. ..... 'patient-centered' medicine now.

Paternal social experience affects male reproductive behaviour in ...

Indian Academy of Sciences (India)

[Dasgupta P., Halder S. and Nandy B. 2016 Paternal social experience affects male reproductive behaviour in Drosophila .... allowed to the competitor male to interact with the female. Following ... conditions including maternal environment.

No influence of parental origin of intact X chromosome and/or Y chromosome sequences on three-year height response to growth hormone therapy in Turner syndrome

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Hye Jin Lee

2014-09-01

Full Text Available PurposeWhether parental origin of the intact X chromosome and/or the presence of Y chromosome sequences (Yseq play a role in three-year height response to growth hormone (GH were investigated.MethodsPaternal (Xp or maternal (Xm origin of X chromosome was assessed by microsatellite marker analysis and the presence of hidden Yseq was analyzed. The first-, second-, and third-year GH response was measured as a change in height z-score (Z_Ht in Turner syndrome (TS patients with 45,Xp (n=10, 45,Xm (n=15, and 45,X/46,X,+mar(Y (Xm_Yseq (n=8.ResultsThe mean baseline Z_Ht did not differ according to Xp or Xm origin, however the mean baseline Z_Ht was higher in the Xm_Yseq group than in Xm group, after adjusting for bone age delay and midparental Z_Ht (P=0.04. There was no difference in the height response to GH between the 3 groups. The height response to GH decreased progressively each year (P<0.001, such that the third-year increase in Z_Ht was not significant. This third-year decrease in treatment response was unaffected by Xp, Xm, and Xm_Yseq groups. Increasing GH dosage from the second to third-year of treatment positively correlated with the increase in Z_Ht (P=0.017.ConclusionThere was no evidence of X-linked imprinted genes and/or Yseq affecting height response to 3 years of GH therapy. Increasing GH dosages may help attenuate the decrease in third-year GH response in TS patients with 45,X and/or 46,X/+mar(Y.

De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder

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Dong, Shan; Walker, Michael F.; Carriero, Nicholas J.; DiCola, Michael; Willsey, A. Jeremy; Ye, Adam Y.; Waqar, Zainulabedin; Gonzalez, Luis E.; Overton, John D.; Frahm, Stephanie; Keaney, John F.; Teran, Nicole A.; Dea, Jeanselle; Mandell, Jeffrey D.; Bal, Vanessa Hus; Sullivan, Catherine A.; DiLullo, Nicholas M.; Khalil, Rehab O.; Gockley, Jake; Yuksel, Zafer; Sertel, Sinem M.; Ercan-Sencicek, A. Gulhan; Gupta, Abha R.; Mane, Shrikant M.; Sheldon, Michael; Brooks, Andrew I.; Roeder, Kathryn; Devlin, Bernie; State, Matthew W.; Wei, Liping; Sanders, Stephan J.

2014-01-01

SUMMARY Whole-exome sequencing (WES) studies have demonstrated the contribution of de novo loss-of-function single nucleotide variants to autism spectrum disorders (ASD). However, challenges in the reliable detection of de novo insertions and deletions (indels) have limited inclusion of these variants in prior analyses. Through the application of a robust indel detection method to WES data from 787 ASD families (2,963 individuals), we demonstrate that de novo frameshift indels contribute to ASD risk (OR=1.6; 95%CI=1.0-2.7; p=0.03), are more common in female probands (p=0.02), are enriched among genes encoding FMRP targets (p=6×10−9), and arise predominantly on the paternal chromosome (p<0.001). Based on mutation rates in probands versus unaffected siblings, de novo frameshift indels contribute to risk in approximately 3.0% of individuals with ASD. Finally, through observing clustering of mutations in unrelated probands, we report two novel ASD-associated genes: KMT2E (MLL5), a chromatin regulator, and RIMS1, a regulator of synaptic vesicle release. PMID:25284784

To nudge or not to nudge: cancer screening programmes and the limits of libertarian paternalism.

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Ploug, Thomas; Holm, Søren; Brodersen, John

2012-12-01

'Nudging--and the underlying idea 'libertarian paternalism'--to an increasing degree influences policy thinking in the healthcare sector. This article discusses the influence exerted upon a woman's choice of participation in the Danish breast screening programme in light of 'libertarian paternalism'. The basic tenet of 'libertarian paternalism' is outlined and the relationship between 'libertarian paternalism' and informed consent investigated. Key elements in the process of enrolling women into the Danish mammography screening programme are introduced. It is shown that for several reasons the influence exerted upon women's choices of participation cannot be justified within a welfare-enhancing libertarian paternalistic framework. The article suggests that screening programmes alternatively adopt a liberty-enhancing approach and considers the practical implications of this alternative.

No evidence of extra-pair paternity in a colonial seabird, the common tern (Sterna hirundo)

DEFF Research Database (Denmark)

Griggio, M.; Matessi, Giuliano; Marin, G.

2004-01-01

The incidence of extra-pair paternity and egg dumping was investigated in a colony of common terns (Sterna hirundo), a colonial seabird, in the Venetian lagoon. Ten families were sampled and multilocus DNA fingerprinting analysis was performed. No indication of extra-pair paternity or egg dumping...... was found in any of the families. The results are discussed in the light of life-history strategies, the benefits of coloniality and the evolution of adoption behaviour in the species.......The incidence of extra-pair paternity and egg dumping was investigated in a colony of common terns (Sterna hirundo), a colonial seabird, in the Venetian lagoon. Ten families were sampled and multilocus DNA fingerprinting analysis was performed. No indication of extra-pair paternity or egg dumping...

Offspring's Leukocyte Telomere Length, Paternal Age, and Telomere Elongation in Sperm

DEFF Research Database (Denmark)

Kimura, Masayuki; Cherkas, Lynn F; Kato, Bernet S

2008-01-01

), the NHLBI Family Heart Study (NHLBI-Heart), the Longitudinal Study of Aging Danish Twins (Danish Twins), and the UK Adult Twin Registry (UK Twins). Using Southern blots, Q-FISH, and flow-FISH, we also measured telomere parameters in sperm from 46 young (50 years) donors. Paternal age...... had an independent effect, expressed by a longer LTL in males of the Framingham Offspring and Danish Twins, males and females of the NHLBI-Heart, and females of UK Twins. For every additional year of paternal age, LTL in offspring increased at a magnitude ranging from half to more than twice......Leukocyte telomere length (LTL) is a complex genetic trait. It shortens with age and is associated with a host of aging-related disorders. Recent studies have observed that offspring of older fathers have longer LTLs. We explored the relation between paternal age and offspring's LTLs in 4 different...

Paternal Caregivers' Parenting Practices and Psychological Functioning among African American Youth Living in Urban Public Housing.

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Doyle, Otima; Clark Goings, Trenette; Cryer-Coupet, Qiana R; Lombe, Margaret; Stephens, Jennifer; Nebbitt, Von E

2017-09-01

Structural factors associated with public housing contribute to living environments that expose families to adverse life events that may in turn directly impact parenting and youth outcomes. However, despite the growth in research on fathers, research on families in public housing has practically excluded fathers and the role fathers play in the well-being of their adolescents. Using a sample of 660 African American adolescents recruited from public housing, we examined the relationship between paternal caregivers' (i.e., fathers' and father figures') parenting practices and adolescents' depressive symptoms, attitudes toward deviance, and self-efficacy. Using a latent profile analysis (LPA), we confirmed a four-class model of paternal parenting practices ranging from high to low levels of monitoring and encouragement. Results from a one-way ANOVA indicated that paternal caregivers with high (compared to moderate) levels of encouragement and monitoring were associated with youth who reported less depressive symptoms, higher levels of self-efficacy, and less favorable attitudes toward deviance. Discriminant analysis results indicated that approximately half of the sample were correctly classified into two paternal caregiver classes. The findings provide evidence that some of these caregivers engage in parenting practices that support youths' psychological functioning. More research is needed to determine what accounts for the variability in levels of paternal encouragement and supervision, including environmental influences, particularly for paternal caregivers exhibiting moderate-to-low levels of paternal encouragement and monitoring. © 2016 Family Process Institute.

Alterations and Abnormal Mitosis of Wheat Chromosomes Induced by Wheat-Rye Monosomic Addition Lines

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Fu, Shulan; Yang, Manyu; Fei, Yunyan; Tan, Feiquan; Ren, Zhenglong; Yan, Benju; Zhang, Huaiyu; Tang, Zongxiang

2013-01-01

Background Wheat-rye addition lines are an old topic. However, the alterations and abnormal mitotic behaviours of wheat chromosomes caused by wheat-rye monosomic addition lines are seldom reported. Methodology/Principal Findings Octoploid triticale was derived from common wheat T. aestivum L. ‘Mianyang11’×rye S. cereale L. ‘Kustro’ and some progeny were obtained by the controlled backcrossing of triticale with ‘Mianyang11’ followed by self-fertilization. Genomic in situ hybridization (GISH) using rye genomic DNA and fluorescence in situ hybridization (FISH) using repetitive sequences pAs1 and pSc119.2 as probes were used to analyze the mitotic chromosomes of these progeny. Strong pSc119.2 FISH signals could be observed at the telomeric regions of 3DS arms in ‘Mianyang11’. However, the pSc119.2 FISH signals were disappeared from the selfed progeny of 4R monosomic addition line and the changed 3D chromosomes could be transmitted to next generation stably. In one of the selfed progeny of 7R monosomic addition line, one 2D chromosome was broken and three 4A chromosomes were observed. In the selfed progeny of 6R monosomic addition line, structural variation and abnormal mitotic behaviour of 3D chromosome were detected. Additionally, 1A and 4B chromosomes were eliminated from some of the progeny of 6R monosomic addition line. Conclusions/Significance These results indicated that single rye chromosome added to wheat might cause alterations and abnormal mitotic behaviours of wheat chromosomes and it is possible that the stress caused by single alien chromosome might be one of the factors that induced karyotype alteration of wheat. PMID:23936213

The Definition of Nudge and Libertarian Paternalism

DEFF Research Database (Denmark)

Hansen, Pelle Guldborg

2016-01-01

paternalism, but also clarifies how nudges relate to incentives and information, and may even be consistent with the removal of certain types of choices. In the end we are left with a revised definition of the concept of nudge that allows for consistently categorising behaviour change interventions...

Paternal involvement and early infant neurodevelopment: the mediation role of maternal parenting stress.

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Kim, Minjeong; Kang, Su-Kyoung; Yee, Bangsil; Shim, So-Yeon; Chung, Mira

2016-12-12

Father-child interactions are associated with improved developmental outcomes among infants. However, to the best of our knowledge, no study has addressed the effects of paternal involvement on the neurodevelopment of infants who are less than 6 months of age, and no study has reported how maternal parenting stress mediates the relationship between paternal involvement and infant neurodevelopment during early infancy. This study investigates the direct and indirect relationship between paternal involvement and infant neurodevelopment at 3-4 months of age. The indirect relationship was assessed through the mediating factor of maternal parenting stress. The participants were recruited through the Sesalmaul Research Center's website from April to June 2014. The final data included 255 mothers and their healthy infants, who were aged 3-4 months. The mothers reported paternal involvement and maternal parenting stress by using Korean Parenting Alliance Inventory (K-PAI) and Parenting Stress Index (PSI), respectively. Experts visited the participants' homes to observe infant neurodevelopment, and completed a developmental examination using Korean version of the Ages and Stages Questionnaire II (K-ASQ II). A hierarchical multiple regression analysis was used for data analysis. Infants' mean ages were 106 days and girls accounted for 46.3%. The mean total scores (reference range) of the K-PAI, PSI, and the K-ASQ II were 55.5 (17-68), 45.8 (25-100), and 243.2 (0-300), respectively. Paternal involvement had a positive relationship with K-ASQ II scores (β = 0.29, p parenting stress was negatively related with K-ASQ II scores (β = -0.32, p parenting stress mediated the relationship between paternal involvement and early infant neurodevelopment (Z = 3.24, p parenting stress (β = -0.25, p parenting stress partially mediates that association. This result emphasizes the importance of fathers' involvement and mothers' parenting stress on early infant

The Effect of Paternal Age on Offspring Intelligence and Personality when Controlling for Parental Trait Levels

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Arslan, Ruben C.; Penke, Lars; Johnson, Wendy; Iacono, William G.; McGue, Matt

2014-01-01

Paternal age at conception has been found to predict the number of new genetic mutations. We examined the effect of father’s age at birth on offspring intelligence, head circumference and personality traits. Using the Minnesota Twin Family Study sample we tested paternal age effects while controlling for parents’ trait levels measured with the same precision as offspring’s. From evolutionary genetic considerations we predicted a negative effect of paternal age on offspring intelligence, but not on other traits. Controlling for parental intelligence (IQ) had the effect of turning an initially positive association non-significantly negative. We found paternal age effects on offspring IQ and Multidimensional Personality Questionnaire Absorption, but they were not robustly significant, nor replicable with additional covariates. No other noteworthy effects were found. Parents’ intelligence and personality correlated with their ages at twin birth, which may have obscured a small negative effect of advanced paternal age (birth order and the Flynn effect. PMID:24587224

Daddy issues: paternal effects on phenotype.

Science.gov (United States)

Rando, Oliver J

2012-11-09

The once popular and then heretical idea that ancestral environment can affect the phenotype of future generations is coming back into vogue due to advances in the field of epigenetic inheritance. How paternal environmental conditions influence the phenotype of progeny is now a tractable question, and researchers are exploring potential mechanisms underlying such effects. Copyright © 2012 Elsevier Inc. All rights reserved.

H19 RNA binds four molecules of insulin-like growth factor II mRNA-binding protein

DEFF Research Database (Denmark)

Runge, Steffen; Nielsen, Finn Cilius; Nielsen, Jacob

2000-01-01

H19 RNA is a major oncofetal 2.5-kilobase untranslated RNA of unknown function. The maternally expressed H19 gene is located 90 kilobase pairs downstream from the paternally expressed insulin-like growth factor II (IGF-II) gene on human chromosome 11 and mouse chromosome 7; and due to their recip......H19 RNA is a major oncofetal 2.5-kilobase untranslated RNA of unknown function. The maternally expressed H19 gene is located 90 kilobase pairs downstream from the paternally expressed insulin-like growth factor II (IGF-II) gene on human chromosome 11 and mouse chromosome 7; and due...

Gtl2lacZ, an insertional mutation on mouse chromosome 12 with parental origin-dependent phenotype.

Science.gov (United States)

Schuster-Gossler, K; Simon-Chazottes, D; Guenet, J L; Zachgo, J; Gossler, A

1996-01-01

We have produced a transgenic mouse line, Gtl2lacZ (Gene trap locus 2), that carries an insertional mutation with a dominant modified pattern of inheritance:heterozygous Gtl2lacZ mice that inherited the transgene from the father show a proportionate dwarfism phenotype, whereas the penetrance and expressivity of the phenotype is strongly reduced in Gtl2lacZ mice that inherited the transgene from the mother. On a mixed genetic background this pattern of inheritance was reversible upon transmission of the transgene through the germ line of the opposite sex. On a predominantly 129/Sv genetic background, however, transgene passage through the female germ line modified the transgene effect, such that the penetrance of the mutation was drastically reduced and the phenotype was no longer obvious after subsequent male germ line transmission. Expression of the transgene, however, was neither affected by genetic background nor by parental legacy. Gtl2lacZ maps to mouse Chromosome 12 in a region that displays imprinting effects associated with maternal and paternal disomy. Our results suggest that the transgene insertion in Gtl2lacZ mice affects an endogenous gene(s) required for fetal and postnatal growth and that this gene(s) is predominantly paternally expressed.

Paternal Attachment, Parenting Beliefs and Children's Attachment

Science.gov (United States)

Howard, Kimberly S.

2010-01-01

Relationships between fathers' romantic attachment style, parenting beliefs and father-child attachment security and dependence were examined in a diverse sample of 72 fathers of young children. Paternal romantic attachment style was coded based on fathers' endorsement of a particular style represented in the Hazan and Shaver Three-Category…

Exploring the Y Chromosomal Ancestry of Modern Panamanians.

Directory of Open Access Journals (Sweden)

Viola Grugni

Full Text Available Geologically, Panama belongs to the Central American land-bridge between North and South America crossed by Homo sapiens >14 ka ago. Archaeologically, it belongs to a wider Isthmo-Colombian Area. Today, seven indigenous ethnic groups account for 12.3% of Panama's population. Five speak Chibchan languages and are characterized by low genetic diversity and a high level of differentiation. In addition, no evidence of differential structuring between maternally and paternally inherited genes has been reported in isthmian Chibchan cultural groups. Recent data have shown that 83% of the Panamanian general population harbour mitochondrial DNAs (mtDNAs of Native American ancestry. Considering differential male/female mortality at European contact and multiple degrees of geographical and genetic isolation over the subsequent five centuries, the Y-chromosome Native American component is expected to vary across different geographic regions and communities in Panama. To address this issue, we investigated Y-chromosome variation in 408 modern males from the nine provinces of Panama and one indigenous territory (the comarca of Kuna Yala. In contrast to mtDNA data, the Y-chromosome Native American component (haplogroup Q exceeds 50% only in three populations facing the Caribbean Sea: the comarca of Kuna Yala and Bocas del Toro province where Chibchan languages are spoken by the majority, and the province of Colón where many Kuna and people of mixed indigenous-African-and-European descent live. Elsewhere the Old World component is dominant and mostly represented by western Eurasian haplogroups, which signal the strong male genetic impact of invaders. Sub-Saharan African input accounts for 5.9% of male haplotypes. This reflects the consequences of the colonial Atlantic slave trade and more recent influxes of West Indians of African heritage. Overall, our findings reveal a local evolution of the male Native American ancestral gene pool, and a strong but

A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder.

Science.gov (United States)

Matthews, A M; Tarailo-Graovac, M; Price, E M; Blydt-Hansen, I; Ghani, A; Drögemöller, B I; Robinson, W P; Ross, C J; Wasserman, W W; Siden, H; van Karnebeek, C D

2017-10-01

Here we report a 12 year old male with an extreme presentation of spastic paraplegia along with autism and dysmorphisms. Whole exome sequencing identified a predicted pathogenic pair of missense variants in SPAST at the same chromosomal location, each with a different alternative allele, while a chromosome microarray identified a 1.73 Mb paternally inherited copy gain of 1q21.1q21.2 resulting in a blended phenotype of both Spastic paraplegia 4 and 1q21.1 microduplication syndrome. We believe that the extreme phenotype observed is likely caused by the presence of cells which contain only mutant SPAST, but that the viability of the patient is possible due mosaicism of mutant alleles observed in different proportions across tissues. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

The effect of multiple paternity on genetic diversity of small populations during and after colonisation.

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Marina Rafajlović

Full Text Available Genetic variation within and among populations is influenced by the genetic content of the founders and the migrants following establishment. This is particularly true if populations are small, migration rate low and habitats arranged in a stepping-stone fashion. Under these circumstances the level of multiple paternity is critical since multiply mated females bring more genetic variation into founder groups than single mated females. One such example is the marine snail Littorina saxatilis that during postglacial times has invaded mainland refuge areas and thereafter small islands emerging due to isostatic uplift by occasional rafting of multiply mated females. We modelled effects of varying degrees of multiple paternity on the genetic variation of island populations colonised by the founders spreading from the mainland, by quantifying the population heterozygosity during both the transient colonisation process, and after a steady state (with migration has been reached. During colonisation, multiple mating by [Formula: see text] males increased the heterozygosity by [Formula: see text] in comparison with single paternity, while in the steady state the increase was [Formula: see text] compared with single paternity. In the steady state the increase of heterozygosity due to multiple paternity is determined by a corresponding increase in effective population size. During colonisation, by contrast, the increase in heterozygosity is larger and it cannot be explained in terms of the effective population size alone. During the steady-state phase bursts of high genetic variation spread through the system, and far from the mainland this led to short periods of high diversity separated by long periods of low diversity. The size of these fluctuations was boosted by multiple paternity. We conclude that following glacial periods of extirpation, recolonization of isolated habitats by this species has been supported by its high level of multiple paternity.

The Effect of Multiple Paternity on Genetic Diversity of Small Populations during and after Colonisation

KAUST Repository

Rafajlović, Marina

2013-10-28

Genetic variation within and among populations is influenced by the genetic content of the founders and the migrants following establishment. This is particularly true if populations are small, migration rate low and habitats arranged in a stepping-stone fashion. Under these circumstances the level of multiple paternity is critical since multiply mated females bring more genetic variation into founder groups than single mated females. One such example is the marine snail Littorina saxatilis that during postglacial times has invaded mainland refuge areas and thereafter small islands emerging due to isostatic uplift by occasional rafting of multiply mated females. We modelled effects of varying degrees of multiple paternity on the genetic variation of island populations colonised by the founders spreading from the mainland, by quantifying the population heterozygosity during both the transient colonisation process, and after a steady state (with migration) has been reached. During colonisation, multiple mating by 2-10 males increased the heterozygosity by 10-300% in comparison with single paternity, while in the steady state the increase was 10-50% compared with single paternity. In the steady state the increase of heterozygosity due to multiple paternity is determined by a corresponding increase in effective population size. During colonisation, by contrast, the increase in heterozygosity is larger and it cannot be explained in terms of the effective population size alone. During the steady-state phase bursts of high genetic variation spread through the system, and far from the mainland this led to short periods of high diversity separated by long periods of low diversity. The size of these fluctuations was boosted by multiple paternity. We conclude that following glacial periods of extirpation, recolonization of isolated habitats by this species has been supported by its high level of multiple paternity. 2013 Rafajlovi? et al.

Higher levels of multiple paternities increase seedling survival in the long-lived tree Eucalyptus gracilis.

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Martin F Breed

Full Text Available Studying associations between mating system parameters and fitness in natural populations of trees advances our understanding of how local environments affect seed quality, and thereby helps to predict when inbreeding or multiple paternities should impact on fitness. Indeed, for species that demonstrate inbreeding avoidance, multiple paternities (i.e. the number of male parents per half-sib family should still vary and regulate fitness more than inbreeding--named here as the 'constrained inbreeding hypothesis'. We test this hypothesis in Eucalyptus gracilis, a predominantly insect-pollinated tree. Fifty-eight open-pollinated progeny arrays were collected from trees in three populations. Progeny were planted in a reciprocal transplant trial. Fitness was measured by family establishment rates. We genotyped all trees and their progeny at eight microsatellite loci. Planting site had a strong effect on fitness, but seed provenance and seed provenance × planting site did not. Populations had comparable mating system parameters and were generally outcrossed, experienced low biparental inbreeding and high levels of multiple paternity. As predicted, seed families that had more multiple paternities also had higher fitness, and no fitness-inbreeding correlations were detected. Demonstrating that fitness was most affected by multiple paternities rather than inbreeding, we provide evidence supporting the constrained inbreeding hypothesis; i.e. that multiple paternity may impact on fitness over and above that of inbreeding, particularly for preferentially outcrossing trees at life stages beyond seed development.

Maternal Depression, Paternal Psychopathology, and Toddlers’ Behavior Problems

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Dietz, Laura J.; Jennings, Kay Donahue; Kelley, Sue A.; Marshal, Michael

2013-01-01

This article examined the effects of maternal depression during the postpartum period (Time 1) on the later behavior problems of toddlers (Time 3) and tested if this relationship was moderated by paternal psychopathology during toddlers’ lives and/or or mediated by maternal parenting behavior observed during mother–child interaction (Time 2). Of the 101 mothers who participated in this longitudinal study with their toddlers, 51 had never experienced an episode of Major Depressive Disorder (MDD) and 50 had experienced an episode of MDD during the first 18 months of their toddlers’ lives. Maternal depression at Time 1 was significantly associated with toddlers’ externalizing and internalizing behavior problems only when paternal psychopathology was present. As predicted, maternal negativity at Time 2 was found to mediate the relationship between maternal depression at Time 1 and toddlers’ externalizing behavior problems at Time 3. PMID:19130357

Displays of paternal mouse pup retrieval following communicative interaction with maternal mates.

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Liu, Hong-Xiang; Lopatina, Olga; Higashida, Chiharu; Fujimoto, Hiroko; Akther, Shirin; Inzhutova, Alena; Liang, Mingkun; Zhong, Jing; Tsuji, Takahiro; Yoshihara, Toru; Sumi, Kohei; Ishiyama, Mizuho; Ma, Wen-Jie; Ozaki, Mitsunori; Yagitani, Satoshi; Yokoyama, Shigeru; Mukaida, Naofumi; Sakurai, Takeshi; Hori, Osamu; Yoshioka, Katsuji; Hirao, Atsushi; Kato, Yukio; Ishihara, Katsuhiko; Kato, Ichiro; Okamoto, Hiroshi; Cherepanov, Stanislav M; Salmina, Alla B; Hirai, Hirokazu; Asano, Masahide; Brown, David A; Nagano, Isamu; Higashida, Haruhiro

2013-01-01

Compared with the knowledge of maternal care, much less is known about the factors required for paternal parental care. Here we report that new sires of laboratory mice, though not spontaneously parental, can be induced to show maternal-like parental care (pup retrieval) using signals from dams separated from their pups. During this interaction, the maternal mates emit 38-kHz ultrasonic vocalizations to their male partners, which are equivalent to vocalizations that occur following pheromone stimulation. Without these signals or in the absence of maternal mates, the sires do not retrieve their pups within 5 min. These results show that, in mice, the maternal parent communicates to the paternal parent to encourage pup care. This new paradigm may be useful in the analysis of the parental brain during paternal care induced by interactive communication.

The interactive effect of paternal problem drinking and maternal problem drinking on adolescent internalizing problems.

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Ohannessian, Christine McCauley

2015-11-01

This study examined the effects of both paternal problem drinking and maternal problem drinking on adolescent internalizing problems (depression and anxiety symptomatology). Surveys were administered to 566 10th and 11th grade students from the Mid-Atlantic region of the U.S. in the spring of 2007 and again in the spring of 2008. Although significant main effects were not observed, significant interactions were found between paternal problem drinking and maternal problem drinking for internalizing problems, especially for boys. In general, these interactions indicated that when paternal problem drinking was high, depression symptomatology and anxiety symptomatology were lower if maternal problem drinking was low. Findings from this study highlight the need to consider both paternal and maternal problem drinking when examining the effects that parental problem drinking may have on adolescent adjustment. Copyright © 2015 Elsevier Ltd. All rights reserved.

I Want to but I Won't: Pluralistic Ignorance Inhibits Intentions to Take Paternity Leave in Japan

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Takeru Miyajima

2017-09-01

Full Text Available The number of male employees who take paternity leave in Japan has been low in past decades. However, the majority of male employees actually wish to take paternity leave if they were to have a child. Previous studies have demonstrated that the organizational climate in workplaces is the major determinant of male employees' use of family-friendly policies, because males are often stigmatized and fear receiving negative evaluation from others. While such normative pressure might be derived from prevailing social practices relevant to people's expectation of social roles (e.g., “Men make houses, women make homes”, these social practices are often perpetuated even after the majority of group members have ceased to support them. The perpetuation of this unpopular norm could be caused by the social psychological phenomenon of pluralistic ignorance. While researches have explored people's beliefs about gender roles from various perspectives, profound understanding of these beliefs regarding gender role norms, and the accuracy of others' beliefs remains to be attained. The current research examined the association between pluralistic ignorance and the perpetually low rates of taking paternity leave in Japan. Specifically, Study 1 (n = 299 examined Japanese male employees' (ages ranging from the 20 s to the 40 s attitudes toward paternity leave and to estimate attitudes of other men of the same age, as well as behavioral intentions (i.e., desire and willingness to take paternity leave if they had a child in the future. The results demonstrated that male employees overestimated other men's negative attitudes toward paternity leave. Moreover, those who had positive attitudes toward taking leave and attributed negative attitudes to others were less willing to take paternity leave than were those who had positive attitudes and believed others shared those attitudes, although there was no significant difference between their desires to take paternity

I Want to but I Won't: Pluralistic Ignorance Inhibits Intentions to Take Paternity Leave in Japan.

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Miyajima, Takeru; Yamaguchi, Hiroyuki

2017-01-01

The number of male employees who take paternity leave in Japan has been low in past decades. However, the majority of male employees actually wish to take paternity leave if they were to have a child. Previous studies have demonstrated that the organizational climate in workplaces is the major determinant of male employees' use of family-friendly policies, because males are often stigmatized and fear receiving negative evaluation from others. While such normative pressure might be derived from prevailing social practices relevant to people's expectation of social roles (e.g., "Men make houses, women make homes"), these social practices are often perpetuated even after the majority of group members have ceased to support them. The perpetuation of this unpopular norm could be caused by the social psychological phenomenon of pluralistic ignorance. While researches have explored people's beliefs about gender roles from various perspectives, profound understanding of these beliefs regarding gender role norms, and the accuracy of others' beliefs remains to be attained. The current research examined the association between pluralistic ignorance and the perpetually low rates of taking paternity leave in Japan. Specifically, Study 1 ( n = 299) examined Japanese male employees' (ages ranging from the 20 s to the 40 s) attitudes toward paternity leave and to estimate attitudes of other men of the same age, as well as behavioral intentions (i.e., desire and willingness) to take paternity leave if they had a child in the future. The results demonstrated that male employees overestimated other men's negative attitudes toward paternity leave. Moreover, those who had positive attitudes toward taking leave and attributed negative attitudes to others were less willing to take paternity leave than were those who had positive attitudes and believed others shared those attitudes, although there was no significant difference between their desires to take paternity leave. Study 2 ( n

X-Chromosome Control of Genome-Scale Recombination Rates in House Mice.

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Dumont, Beth L

2017-04-01

Sex differences in recombination are widespread in mammals, but the causes of this pattern are poorly understood. Previously, males from two interfertile subspecies of house mice, Mus musculus musculus and M. m. castaneus , were shown to exhibit a ∼30% difference in their global crossover frequencies. Much of this crossover rate divergence is explained by six autosomal loci and a large-effect locus on the X chromosome. Intriguingly, the allelic effects at this X-linked locus are transgressive, with the allele conferring increased crossover rate being transmitted by the low crossover rate M. m. castaneus parent. Despite the pronounced divergence between males, females from these subspecies exhibit similar crossover rates, raising the question of how recombination is genetically controlled in this sex. Here, I analyze publicly available genotype data from early generations of the Collaborative Cross, an eight-way panel of recombinant inbred strains, to estimate crossover frequencies in female mice with sex-chromosome genotypes of diverse subspecific origins. Consistent with the transgressive influence of the X chromosome in males, I show that females inheriting an M. m. castaneus X possess higher average crossover rates than females lacking the M. m. castaneus X chromosome. The differential inheritance of the X chromosome in males and females provides a simple genetic explanation for sex-limited evolution of this trait. Further, the presence of X-linked and autosomal crossover rate modifiers with antagonistic effects hints at an underlying genetic conflict fueled by selection for distinct crossover rate optima in males and females. Copyright © 2017 by the Genetics Society of America.

Controversies in oncologist-patient communication: a nuanced approach to autonomy, culture, and paternalism.

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Cherny, Nathan I

2012-01-01

Difficult dialogues with patients facing life-changing decisions are an intrinsic part of oncologic practice and a major source of stress. Having a sophisticated approach to the concepts of autonomy, paternalism, and culture can help in addressing difficult dilemmas that arise around the issues of disclosure and decision making. This article addresses some of the most common major challenges in oncologist-patient communication with a nuanced approach to the concepts of autonomy, paternalism, and culture. It introduces the new concept of"voluntary diminished autonomy" and describes the implications this concept has for the consent process. It also attempts to bring clarity to common problems and misconceptions relating to culture, paternalism, and therapeutic privilege as these pertain to the communication practices of oncologists.

Adoptive paternal age and risk of psychosis in adoptees: a register based cohort study.

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Mats Ek

Full Text Available The association between advancing paternal age and increased risk of schizophrenia in the off-spring is well established. The underlying mechanisms are unknown. In order to investigate whether the psychosocial environment associated with growing up with an aged father explains the increased risk we conducted a study of all adoptive children in Sweden from 1955-1985 (n =31 188. Their risk of developing schizophrenia or non-affective psychosis in relation to advancing age of their adoptive fathers' was examined. We found no association between risk of psychoses and advancing adoptive paternal age. There was no support of psychosocial environmental factors explaining the "paternal age effect".

Y-chromosome diversity is inversely associated with language affiliation in paired Austronesian- and Papuan-speaking communities from Solomon Islands.

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Cox, Murray P; Mirazón Lahr, Marta

2006-01-01

The Solomon Islands lie in the center of Island Melanesia, bordered to the north by the Bismarck Archipelago and to the south by Vanuatu. The nation's half-million inhabitants speak around 70 languages from two unrelated language groups: Austronesian, a language family widespread in the Pacific and closely related to languages spoken in Island Southeast Asia, and "East Papuan", generally defined as non-Austronesian and distantly related to the extremely diverse Papuan languages of New Guinea. Despite the archipelago's presumed role as a staging post for the settlement of Remote Oceania, genetic research on Solomon Island populations is sparse. We collected paired samples from two regions that have populations speaking Austronesian and Papuan languages, respectively. Here we present Y-chromosome data from these samples, the first from Solomon Islands. We detected five Y-chromosome lineages: M-M106, O-M175, K-M9*, K-M230, and the extremely rare clade, K1-M177. Y-chromosome lineages from Solomon Islands fall within the range of other Island Melanesian populations but display markedly lower haplogroup diversity. From a broad Indo-Pacific perspective, Y-chromosome lineages show partial association with the distribution of language groups: O-M175 is associated spatially with Austronesian-speaking areas, whereas M-M106 broadly correlates with the distribution of Papuan languages. However, no relationship between Y-chromosome lineages and language affiliation was observed on a small scale within Solomon Islands. This pattern may result from a sampling strategy that targeted small communities, where individual Y-chromosome lineages can be fixed or swept to extinction by genetic drift or favored paternal exogamy. Am. J. Hum. Biol. 18:35-50, 2006. (c) 2005 Wiley-Liss, Inc.

Was bioethics founded on historical and conceptual mistakes about medical paternalism?

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McCullough, Laurence B

2011-02-01

Bioethics has a founding story in which medical paternalism, the interference with the autonomy of patients for their own clinical benefit, was an accepted ethical norm in the history of Western medical ethics and was widespread in clinical practice until bioethics changed the ethical norms and practice of medicine. In this paper I show that the founding story of bioethics misreads major texts in the history of Western medical ethics. I also show that a major source for empirical claims about the widespread practice of medical paternalism has been misread. I then show that that bioethics based on its founding story deprofessionalizes medical ethics. The result leaves the sick exposed to the predatory power of medical practitioners and healthcare organizations with only their autonomy-based rights to non-interference, expressed in contracts, to protect them. The sick are stripped of the protection afforded by a professional, fiduciary relationship of physicians to their patients. Bioethics based on its founding story reverts to the older model of a contractual relationship between the sick and medical practitioners not worthy of intellectual or moral trust (because such trust cannot be generated by what I call 'deprofessionalizing bioethics'). On closer examination, bioethics based on its founding story, ironically, eliminates paternalism as a moral category in bioethics, thus causing bioethics to collapse on itself because it denies one of the necessary conditions for medical paternalism. Bioethics based on its founding story should be abandoned. © 2010 Blackwell Publishing Ltd.

Habitat geometry does not affect levels of extrapair paternity in an extremely unfaithful fairy-wren

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Brouwer, L.; Van de Pol, M.; Cockburn, A.

2014-01-01

Density of potential mates has often been proposed to explain the enormous variation in extrapair paternity. However, density is often confounded by other ecological factors that might affect extrapair paternity in their own way. Furthermore, extrapair mating shows strong phylogenetic inertia,

53BP1 nuclear bodies form around DNA lesions generated by mitotic transmission of chromosomes under replication stress

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Lukas, Claudia; Savic, Velibor; Bekker-Jensen, Simon

2011-01-01

stress increases the frequency of chromosomal lesions that are transmitted to daughter cells. Throughout G1, these lesions are sequestered in nuclear compartments marked by p53-binding protein 1 (53BP1) and other chromatin-associated genome caretakers. We show that the number of such 53BP1 nuclear bodies...... increases after genetic ablation of BLM, a DNA helicase associated with dissolution of entangled DNA. Conversely, 53BP1 nuclear bodies are partially suppressed by knocking down SMC2, a condensin subunit required for mechanical stability of mitotic chromosomes. Finally, we provide evidence that 53BP1 nuclear...... bodies shield chromosomal fragile sites sequestered in these compartments against erosion. Together, these data indicate that restoration of DNA or chromatin integrity at loci prone to replication problems requires mitotic transmission to the next cell generations....

What Provisions Do Orthopaedic Programs Make for Maternity, Paternity, and Adoption Leave?

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Weiss, Jennifer; Teuscher, David

2016-09-01

The process of choosing medical specialty and residency programs is multifaceted. Today's generation of medical students may have an increased interest in work-life balance and time with their families. In considering this factor, medical students may be influenced by policy regarding maternity, paternity, and adoption leave during residency and fellowship training. Current policy among orthopaedic programs regarding maternity, paternity, and adoption leave is not well described. To understand the influence these policies may have on the choices that medical students make in choosing their specialty, the policies must first be better understood. (1) What proportion of orthopaedic programs have formal or unwritten policies regarding maternity, paternity, and adoptive leave? (2) What are the provisions for time away, allotment of time, and makeup options for trainees who take leave? (3) What proportion of orthopaedic programs report utilization of leave, and what proportions of leave are for maternity, paternity, or adoptive reasons? Accredited programs in orthopaedic surgery were identified through the Council of Orthopedic Residency Directors within the American Orthopaedic Association. Current program directors of these accredited programs were surveyed. The survey was emailed to 144 program directors, of which 141 emails were delivered. Responses were received from 45 program directors, representing 31% of programs. The survey focused on maternity, paternity, and adoptive leave, and it consisted of questions designed to explore program policies (formal, unwritten, no policy, or in development), time considerations (amount allowed, allocation of time away, and makeup requirements), and utilization (trainees who took leave and type of leave used). Most respondents have maternity leave policy (formal: 36 of 45 [80%]; unwritten: 17 of 45 [38%]). Sixteen programs (16 of 45 [36%]) reported having both a formal and an unwritten maternity leave policy. Less than half of

Paternal inheritance of plastid-encoded transgenes in Petunia hybrida in the greenhouse and under field conditions

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Patricia Horn

2017-12-01

Full Text Available As already demonstrated in greenhouse trials, outcrossing of transgenic plants can be drastically reduced via transgene integration into the plastid. We verified this result in the field with Petunia, for which the highest paternal leakage has been observed. The variety white 115 (W115 served as recipient and Pink Wave (PW and the transplastomic variant PW T16, encoding the uidA reporter gene, as pollen donor. While manual pollination in the greenhouse led to over 90% hybrids for both crossings, the transgenic donor resulted only in 2% hybrids in the field. Nevertheless paternal leakage was detected in one case which proves that paternal inheritance of plastid-located transgenes is possible under artificial conditions. In the greenhouse, paternal leakage occurred in a frequency comparable to published results. As expected natural pollination reduced the hybrid formation in the field from 90 to 7.6% and the transgenic donor did not result in any hybrid. Keywords: Paternal plastid inheritance, Transgene confinement, Greenhouse, Field trial, Pollen mediated gene flow

Paternal kin recognition in the high frequency / ultrasonic range in a solitary foraging mammal

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Kessler Sharon E

2012-11-01

Full Text Available Abstract Background Kin selection is a driving force in the evolution of mammalian social complexity. Recognition of paternal kin using vocalizations occurs in taxa with cohesive, complex social groups. This is the first investigation of paternal kin recognition via vocalizations in a small-brained, solitary foraging mammal, the grey mouse lemur (Microcebus murinus, a frequent model for ancestral primates. We analyzed the high frequency/ultrasonic male advertisement (courtship call and alarm call. Results Multi-parametric analyses of the calls’ acoustic parameters and discriminant function analyses showed that advertisement calls, but not alarm calls, contain patrilineal signatures. Playback experiments controlling for familiarity showed that females paid more attention to advertisement calls from unrelated males than from their fathers. Reactions to alarm calls from unrelated males and fathers did not differ. Conclusions 1 Findings provide the first evidence of paternal kin recognition via vocalizations in a small-brained, solitarily foraging mammal. 2 High predation, small body size, and dispersed social systems may select for acoustic paternal kin recognition in the high frequency/ultrasonic ranges, thus limiting risks of inbreeding and eavesdropping by predators or conspecific competitors. 3 Paternal kin recognition via vocalizations in mammals is not dependent upon a large brain and high social complexity, but may already have been an integral part of the dispersed social networks from which more complex, kin-based sociality emerged.

Paternal investment and status-related child outcomes: timing of father's death affects offspring success.

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Shenk, Mary K; Scelza, Brooke A

2012-09-01

Recent work in human behavioural ecology has suggested that analyses focusing on early childhood may underestimate the importance of paternal investment to child outcomes since such investment may not become crucial until adolescence or beyond. This may be especially important in societies with a heritable component to status, as later investment by fathers may be more strongly related to a child's adult status than early forms of parental investment that affect child survival and child health. In such circumstances, the death or absence of a father may have profoundly negative effects on the adult outcomes of his children that cannot be easily compensated for by the investment of mothers or other relatives. This proposition is tested using a multigenerational dataset from Bangalore, India, containing information on paternal mortality as well as several child outcomes dependent on parental investment during adolescence and young adulthood. The paper examines the effects of paternal death, and the timing of paternal death, on a child's education, adult income, age at marriage and the amount spent on his or her marriage, along with similar characteristics of spouses. Results indicate that a father's death has a negative impact on child outcomes, and that, in contrast to some findings in the literature on father absence, the effects of paternal death are strongest for children who lose their father in late childhood or adolescence.

Dispersals of the Siberian Y-chromosome haplogroup Q in Eurasia.

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Huang, Yun-Zhi; Pamjav, Horolma; Flegontov, Pavel; Stenzl, Vlastimil; Wen, Shao-Qing; Tong, Xin-Zhu; Wang, Chuan-Chao; Wang, Ling-Xiang; Wei, Lan-Hai; Gao, Jing-Yi; Jin, Li; Li, Hui

2018-02-01

The human Y-chromosome has proven to be a powerful tool for tracing the paternal history of human populations and genealogical ancestors. The human Y-chromosome haplogroup Q is the most frequent haplogroup in the Americas. Previous studies have traced the origin of haplogroup Q to the region around Central Asia and Southern Siberia. Although the diversity of haplogroup Q in the Americas has been studied in detail, investigations on the diffusion of haplogroup Q in Eurasia and Africa are still limited. In this study, we collected 39 samples from China and Russia, investigated 432 samples from previous studies of haplogroup Q, and analyzed the single nucleotide polymorphism (SNP) subclades Q1a1a1-M120, Q1a2a1-L54, Q1a1b-M25, Q1a2-M346, Q1a2a1a2-L804, Q1a2b2-F1161, Q1b1a-M378, and Q1b1a1-L245. Through NETWORK and BATWING analyses, we found that the subclades of haplogroup Q continued to disperse from Central Asia and Southern Siberia during the past 10,000 years. Apart from its migration through the Beringia to the Americas, haplogroup Q also moved from Asia to the south and to the west during the Neolithic period, and subsequently to the whole of Eurasia and part of Africa.

Meta-analysis of paternal age and schizophrenia risk in male versus female offspring.

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Miller, Brian; Messias, Erick; Miettunen, Jouko; Alaräisänen, Antti; Järvelin, Marjo-Riita; Koponen, Hannu; Räsänen, Pirkko; Isohanni, Matti; Kirkpatrick, Brian

2011-09-01

Advanced paternal age (APA) is a reported risk factor for schizophrenia in the offspring. We performed a meta-analysis of this association, considering the effect of gender and study design. We identified articles by searching Pub Med, PsychInfo, ISI, and EMBASE, and the reference lists of identified studies. Previously unpublished data from the Northern Finland 1966 Birth Cohort (NFBC 1966) study were also included. There were 6 cohort studies and 6 case-control studies that met the inclusion criteria. In both study designs, there was a significant increase in risk of schizophrenia in the offspring of older fathers (≥30) compared to a reference paternal age of 25-29, with no gender differences. The relative risk (RR) in the oldest fathers (≥50) was 1.66 [95% confidence interval (95% CI): 1.46-1.89, P APA (≥30) and younger paternal age (<25) increase the risk of schizophrenia; younger paternal age may be associated with an increased risk in males but not females. This risk factor increases the risk of schizophrenia as much as any single candidate gene of risk. The mechanism of these associations is not known and may differ for older and younger fathers.

Introducing the Algerian mitochondrial DNA and Y-chromosome profiles into the North African landscape.

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Asmahan Bekada

Full Text Available North Africa is considered a distinct geographic and ethnic entity within Africa. Although modern humans originated in this Continent, studies of mitochondrial DNA (mtDNA and Y-chromosome genealogical markers provide evidence that the North African gene pool has been shaped by the back-migration of several Eurasian lineages in Paleolithic and Neolithic times. More recent influences from sub-Saharan Africa and Mediterranean Europe are also evident. The presence of East-West and North-South haplogroup frequency gradients strongly reinforces the genetic complexity of this region. However, this genetic scenario is beset with a notable gap, which is the lack of consistent information for Algeria, the largest country in the Maghreb. To fill this gap, we analyzed a sample of 240 unrelated subjects from a northwest Algeria cosmopolitan population using mtDNA sequences and Y-chromosome biallelic polymorphisms, focusing on the fine dissection of haplogroups E and R, which are the most prevalent in North Africa and Europe respectively. The Eurasian component in Algeria reached 80% for mtDNA and 90% for Y-chromosome. However, within them, the North African genetic component for mtDNA (U6 and M1; 20% is significantly smaller than the paternal (E-M81 and E-V65; 70%. The unexpected presence of the European-derived Y-chromosome lineages R-M412, R-S116, R-U152 and R-M529 in Algeria and the rest of the Maghreb could be the counterparts of the mtDNA H1, H3 and V subgroups, pointing to direct maritime contacts between the European and North African sides of the western Mediterranean. Female influx of sub-Saharan Africans into Algeria (20% is also significantly greater than the male (10%. In spite of these sexual asymmetries, the Algerian uniparental profiles faithfully correlate between each other and with the geography.

Gametocidal chromosomes enhancing chromosome aberration in common wheat induced by 5-azacytidine.

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Su, W-Y; Cong, W-W; Shu, Y-J; Wang, D; Xu, G-H; Guo, C-H

2013-07-08

The gametocidal (Gc) chromosome from Aegilops spp induces chromosome mutation, which is introduced into common wheat as a tool of chromosome manipulation for genetic improvement. The Gc chromosome functions similar to a restriction-modification system in bacteria, in which DNA methylation is an important regulator. We treated root tips of wheat carrying Gc chromosomes with the hypomethylation agent 5-azacytidine; chromosome breakage and micronuclei were observed in these root tips. The frequency of aberrations differed in wheat containing different Gc chromosomes, suggesting different functions inducing chromosome breakage. Gc chromosome 3C caused the greatest degree of chromosome aberration, while Gc chromosome 3C(SAT) and 2C caused only slight chromosome aberration. Gc chromosome 3C induced different degrees of chromosome aberration in wheat varieties Triticum aestivum var. Chinese Spring and Norin 26, demonstrating an inhibition function in common wheat.

Fetal chromosome analysis: screening for chromosome disease?

DEFF Research Database (Denmark)

Philip, J; Tabor, Ann; Bang, J

1983-01-01

The aim of the study was to investigate the rationale of the current indications for fetal chromosome analysis. 5372 women had 5423 amniocentesis performed, this group constituting a consecutive sample at the chromosome laboratory, Rigshospitalet, Copenhagen from March 1973 to September 1980 (Group...... A + B). Pregnant women 35 years of age, women who previously had a chromosomally abnormal child, families with translocation carriers or other heritable chromosomal disease, families where the father was 50 years or more and women in families with a history of Down's syndrome (group A), were compared...... to women having amniocentesis, although considered not to have any increased risk of fetal chromosome abnormality (1390 pregnancies, group B). They were also compared with 750 consecutive pregnancies in women 25-34 years of age, in whom all heritable diseases were excluded (group C). The risk of unbalanced...

Effects of caffeine upon material repair systems involved in the rejoining of x-ray-induced chromosome breaks in the paternal genome of Drosophila melanogaster

International Nuclear Information System (INIS)

Osgood, C.J.

1977-01-01

Experiments were carried out in which ring-X/B/sup s/Yy + males were x-irradiated and mated with females which had been fed on either 1.0% caffeine in 10% sucrose, 0.2% caffeine in 10% sucrose, or on 10% sucrose alone. F1 progeny were scored for dominant lethals and sex chromosome losses, while in the F2 generation the frequency of translocations was monitored. In line with previous reports it was found that at a concentration of 0.2% caffeine the frequencies of dominant lethals and sex chromosome losses were increased while the frequency of translocations was depressed. At the higher concentration of 1.0% caffeine the frequencies of dominant lethals and sex chromosome losses were depressed. With respect to translocations, while the formation of translocations between autosomes was enhanced in the presence of 1.0% caffeine, the frequency of translocations between the Y and the autosomes was depressed relative to sucrose controls. The proposal is made that at high effective concentrations, caffeine promotes the rejoining of breaks induced in sperm, supported by evidence of an enhancement in the frequency of autosomal translocations in the 1.0% caffeine series and consistent with the depression in the frequencies of dominant lethals and sex chromosome losses in the 1.0% series as compared to sucrose controls

Paternal stress prior to conception alters DNA methylation and behaviour of developing rat offspring.

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Mychasiuk, R; Harker, A; Ilnytskyy, S; Gibb, R

2013-06-25

Although there has been an abundance of research focused on offspring outcomes associated with maternal experiences, there has been limited examination of the relationship between paternal experiences and offspring brain development. As spermatogenesis is a continuous process, experiences that have the ability to alter epigenetic regulation in fathers may actually change developmental trajectories of offspring. The purpose of this study was to examine the effects of paternal stress prior to conception on behaviour and the epigenome of both male and female developing rat offspring. Male Long-Evans rats were stressed for 27 consecutive days and then mated with control female rats. Early behaviour was tested in offspring using the negative geotaxis task and the open field. At P21 offspring were sacrificed and global DNA methylation levels in the hippocampus and frontal cortex were analysed. Paternal stress prior to conception altered behaviour of all offspring on the negative geotaxis task, delaying acquisition of the task. In addition, male offspring demonstrated a reduction in stress reactivity in the open field paradigm spending more time than expected in the centre of the open field. Paternal stress also altered DNA methylation patterns in offspring at P21, global methylation was reduced in the frontal cortex of female offspring, but increased in the hippocampus of both male and female offspring. The results from this study clearly demonstrate that paternal stress during spermatogenesis can influence offspring behaviour and DNA methylation patterns, and these affects occur in a sex-dependent manner. Development takes place in the centre of a complex interaction between maternal, paternal, and environmental influences, which combine to produce the various phenotypes and individual differences that we perceive. Copyright © 2013 IBRO. Published by Elsevier Ltd. All rights reserved.

Paternal age in relation to offspring intelligence in the West of Scotland Twenty-07 prospective cohort study.

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Elise Whitley

Full Text Available BACKGROUND: The adverse effects of advancing maternal age on offspring's health and development are well understood. Much less is known about the impact of paternal age. METHODS: We explored paternal age-offspring cognition associations in 772 participants from the West of Scotland Twenty-07 study. Offspring cognitive ability was assessed using Part 1 of the Alice Heim 4 (AH4 test of General Intelligence and by reaction time (RT. RESULTS: There was no evidence of a parental age association with offspring RT. However, we observed an inverse U-shaped association between paternal age and offspring AH4 score with the lowest scores observed for the youngest and oldest fathers. Adjustment for parental education and socioeconomic status somewhat attenuated this association. Adjustment for number of, particularly older, siblings further reduced the scores of children of younger fathers and appeared to account for the lower offspring scores in the oldest paternal age group. CONCLUSION: We observed a paternal age association with AH4 but not RT, a measure of cognition largely independent of social and educational experiences. Factors such as parental education, socioeconomic status and number of, particularly older, siblings may play an important role in accounting for paternal age-AH4 associations. Future studies should include parental intelligence.

Securing Paternity by Mutilating Female Genitalia in Spiders.

Science.gov (United States)

Mouginot, Pierick; Prügel, Josepha; Thom, Ulrike; Steinhoff, Philip O M; Kupryjanowicz, Janusz; Uhl, Gabriele

2015-11-16

Competition between males and their sperm over access to females and their eggs has resulted in manifold ways by which males try to secure paternity, ranging from physically guarding the female after mating to reducing her receptivity or her attractiveness to subsequent males by transferring manipulative substances or by mechanically sealing the female reproductive tract with a copulatory plug. Copulations may also result in internal damage of the female genitalia; however, this is not considered as a direct adaptation against sperm competition but as a collateral effect. Here, we present a drastic and direct mechanism for securing paternity: the removal of coupling structures on female genitalia by males. In the orb-weaving spider Larinia jeskovi males remove the scapus, a crucial coupling device on the female external genital region. Reconstruction of the coupling mechanism using micro-CT-scanned mating pairs revealed that several sclerites of the male genitalia interact to break off the scapus. Once it is removed, remating cannot occur due to mechanical coupling difficulties. In the field, male-inflicted genital damage is very prevalent since all female L. jeskovi were found to be mutilated at the end of the mating season. External genital mutilation is an overlooked but widely spread phenomenon since 80 additional spider species were found for which male genital manipulation can be suspected. Interlocking genitalia provide an evolutionary platform for the rapid evolution of this highly effective mechanism to secure paternity, and we suspect that other animal groups with interlocking genital structures might reveal similarly drastic male adaptations. Copyright © 2015 Elsevier Ltd. All rights reserved.

Sexual dimorphism in white campion: complex control of carpel number is revealed by Y chromosome deletions

International Nuclear Information System (INIS)

Lardon, A.; Georgiev, S.; Aghmir, A.; Le Merrer, G.; Negrutiu, I.

1999-01-01

Sexual dimorphism in the dioecious plant white campion (Silene latifolia = Melandrium album) is under the control of two main regions on the Y chromosome. One such region, encoding the gynoecium-suppressing function (GSF), is responsible for the arrest of carpel initiation in male flowers. To generate chromosomal deletions, we used pollen irradiation in male plants to produce hermaphroditic mutants (bsx mutants) in which carpel development was restored. The mutants resulted from alterations in at least two GSF chromosomal regions, one autosomal and one located on the distal half of the (p)-arm of the Y chromosome. The two mutations affected carpel development independently, each mutation showing incomplete penetrance and variegation, albeit at significantly different levels. During successive meiotic generations, a progressive increase in penetrance and a reduction in variegation levels were observed and quantified at the level of the Y-linked GSF (GSF-Y). Possible mechanisms are proposed to explain the behavior of the bsx mutations: epigenetic regulation or/and second-site mutation of modifier genes. In addition, studies on the inheritance of the hermaphroditic trait showed that, unlike wild-type Y chromosomes, deleted Y chromosomes can be transmitted through both the male and the female lines. Altogether, these findings bring experimental support, on the one hand, to the existence on the Y chromosome of genic meiotic drive function(s) and, on the other hand, to models that consider that dioecy evolved through multiple mutation events. As such, the GSF is actually a system containing more than one locus and whose primary component is located on the Y chromosome

No evidence of extra-pair paternity in a colonial seabird, the common tern (Sterna hirundo)

DEFF Research Database (Denmark)

Griggio, M.; Matessi, Giuliano; Marin, G.

2004-01-01

The incidence of extra-pair paternity and egg dumping was investigated in a colony of common terns (Sterna hirundo), a colonial seabird, in the Venetian lagoon. Ten families were sampled and multilocus DNA fingerprinting analysis was performed. No indication of extra-pair paternity or egg dumping...

DNA Repair Decline During Mouse Spermiogenesis Results in the Accumulation of Heritable DNA Damage

Energy Technology Data Exchange (ETDEWEB)

Marchetti, Francesco; Marchetti, Francesco; Wyrobek, Andrew J.

2007-12-01

The post-meiotic phase of mouse spermatogenesis (spermiogenesis) is very sensitive to the genomic effects of environmental mutagens because as male germ cells form mature sperm they progressively lose the ability to repair DNA damage. We hypothesized that repeated exposures to mutagens during this repair-deficient phase result in the accumulation of heritable genomic damage in mouse sperm that leads to chromosomal aberrations in zygotes after fertilization. We used a combination of single or fractionated exposures to diepoxybutane (DEB), a component of tobacco smoke, to investigate how differential DNA repair efficiencies during the three weeks of spermiogenesis affected the accumulation of DEB-induced heritable damage in early spermatids (21-15 days before fertilization, dbf), late spermatids (14-8 dbf) and sperm (7-1 dbf). Analysis of chromosomal aberrations in zygotic metaphases using PAINT/DAPI showed that late spermatids and sperm are unable to repair DEB-induced DNA damage as demonstrated by significant increases (P<0.001) in the frequencies of zygotes with chromosomal aberrations. Comparisons between single and fractionated exposures suggested that the DNA repair-deficient window during late spermiogenesis may be less than two weeks in the mouse and that during this repair-deficient window there is accumulation of DNA damage in sperm. Finally, the dose-response study in sperm indicated a linear response for both single and repeated exposures. These findings show that the differential DNA repair capacity of post-meioitic male germ cells has a major impact on the risk of paternally transmitted heritable damage and suggest that chronic exposures that may occur in the weeks prior to fertilization because of occupational or lifestyle factors (i.e, smoking) can lead to an accumulation of genetic damage in sperm and result in heritable chromosomal aberrations of paternal origin.

Paternal smoking and spontaneous abortion: a population-based retrospective cohort study among non-smoking women aged 20-49 years in rural China.

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Wang, Long; Yang, Ying; Liu, Fangchao; Yang, Aimin; Xu, Qin; Wang, Qiaomei; Shen, Haiping; Zhang, Yiping; Yan, Donghai; Peng, Zuoqi; He, Yuan; Wang, Yuanyuan; Xu, Jihong; Zhao, Jun; Zhang, Hongguang; Zhang, Ya; Dai, Qiaoyun; Ma, Xu

2018-06-11

To comprehensively evaluate the association of paternal smoking and spontaneous abortion. We conducted a population-based retrospective cohort study among 5 770 691 non-smoking rural Chinese women, along with their husbands, participating in the National Free Pre-Pregnancy Checkups Project, regarding outcome events that occurred in 2010-2016. The main outcome was spontaneous abortion (SA). Multivariable logistic regression was used to estimate OR and 95% CI, and restricted cubic spline was used to estimate the non-linear relationship. The multivariable-adjusted OR of exposure to paternal smoking for SA was 1.17 (95% CI 1.16 to 1.19), compared with women without exposure to paternal smoking; and corresponding OR of exposure to preconception paternal smoking for SA was 1.11 (95% CI 1.08 to 1.14), compared with women without exposure to preconception paternal smoking. The ORs of preconception paternal smoking also increased with increases in paternal smoking (p nonlinear 0.05). In addition, periconception paternal smoking cessation was associated with an 18% (15%-22%) lower risk of SA. Paternal smoking was associated with SA. The importance of tobacco control, specifically pertaining to paternal smoking, should be emphasised during preconception and pregnancy counselling. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Canine Paternity Testing--Using Personal Experiences To Teach Science.

Science.gov (United States)

Rascati, Ralph J.

2002-01-01

Outlines how an example from the field of animal husbandry is used in a DNA Technology course to motivate students to take a deeper interest in the material. Focuses on paternity testing in dogs. (DDR)

Preconception maternal and paternal exposure to persistent organic pollutants and birth size: the LIFE study.

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Robledo, Candace A; Yeung, Edwina; Mendola, Pauline; Sundaram, Rajeshwari; Maisog, Jose; Sweeney, Anne M; Barr, Dana Boyd; Louis, Germaine M Buck

2015-01-01

Persistent organic pollutants (POPs) are developmental toxicants, but the impact of both maternal and paternal exposures on offspring birth size is largely unexplored. We examined associations between maternal and paternal serum concentrations of 63 POPs, comprising five major classes of pollutants, with birth size measures. Parental serum concentrations of 9 organochlorine pesticides, 1 polybrominated biphenyl (PBB), 7 perfluoroalkyl chemicals (PFCs), 10 polybrominated diphenyl ethers (PBDEs), and 36 polychlorinated biphenyls (PCBs) were measured before conception for 234 couples. Differences in birth weight, length, head circumference, and ponderal index were estimated using multiple linear regression per 1-SD increase in natural log-transformed (ln-transformed) chemicals. Models were estimated separately for each parent and adjusted for maternal age, maternal prepregnancy body mass index (kilograms per meter squared) and other confounders, and all models included an interaction term between infant sex and each chemical. Among girls (n = 117), birth weight was significantly lower (range, 84-195 g) in association with a 1-SD increase in ln-transformed maternal serum concentrations of DDT, PBDE congeners 28 and 183, and paternal serum concentrations of PBDE-183 and PCB-167. Among boys (n = 113), maternal (PCBs 138, 153, 167, 170, 195, and 209 and perfluorooctane sulfonamide) and paternal (PCBs 172 and 195) serum concentrations of several POPs were statistically associated with lower birth weight (range, 98-170 g), whereas paternal concentrations of PBDEs (66, 99) were associated with higher birth weight. Differences in offspring head circumference, length, and ponderal index were also associated with parental exposures. Preconceptional maternal and paternal concentrations of several POPs were associated with statistically significant differences in birth size among offspring.

Advanced paternal age is associated with impaired neurocognitive outcomes during infancy and childhood.

Directory of Open Access Journals (Sweden)

Sukanta Saha

2009-03-01

Full Text Available BACKGROUND: Advanced paternal age (APA is associated with an increased risk of neurodevelopmental disorders such as autism and schizophrenia, as well as with dyslexia and reduced intelligence. The aim of this study was to examine the relationship between paternal age and performance on neurocognitive measures during infancy and childhood. METHODS AND FINDINGS: A sample of singleton children (n = 33,437 was drawn from the US Collaborative Perinatal Project. The outcome measures were assessed at 8 mo, 4 y, and 7 y (Bayley scales, Stanford Binet Intelligence Scale, Graham-Ernhart Block Sort Test, Wechsler Intelligence Scale for Children, Wide Range Achievement Test. The main analyses examined the relationship between neurocognitive measures and paternal or maternal age when adjusted for potential confounding factors. Advanced paternal age showed significant associations with poorer scores on all of the neurocognitive measures apart from the Bayley Motor score. The findings were broadly consistent in direction and effect size at all three ages. In contrast, advanced maternal age was generally associated with better scores on these same measures. CONCLUSIONS: The offspring of older fathers show subtle impairments on tests of neurocognitive ability during infancy and childhood. In light of secular trends related to delayed fatherhood, the clinical implications and the mechanisms underlying these findings warrant closer scrutiny.

The fate of W chromosomes in hybrids between wild silkmoths, Samia cynthia ssp.: no role in sex determination and reproduction.

Science.gov (United States)

Yoshido, A; Marec, F; Sahara, K

2016-05-01

Moths and butterflies (Lepidoptera) have sex chromosome systems with female heterogamety (WZ/ZZ or derived variants). The maternally inherited W chromosome is known to determine female sex in the silkworm, Bombyx mori. However, little is known about the role of W chromosome in other lepidopteran species. Here we describe two forms of the W chromosome, W and neo-W, that are transmitted to both sexes in offspring of hybrids from reciprocal crosses between subspecies of wild silkmoths, Samia cynthia. We performed crosses between S. c. pryeri (2n=28, WZ/ZZ) and S. c. walkeri (2n=26, neo-Wneo-Z/neo-Zneo-Z) and examined fitness and sex chromosome constitution in their hybrids. The F1 hybrids of both reciprocal crosses had reduced fertility. Fluorescence in situ hybridization revealed not only the expected sex chromosome constitutions in the backcross and F2 hybrids of both sexes but also females without the W (or neo-W) chromosome and males carrying the W (or neo-W) chromosome. Furthermore, crosses between the F2 hybrids revealed no association between the presence or absence of W (or neo-W) chromosome and variations in the hatchability of their eggs. Our results clearly suggest that the W (or neo-W) chromosome of S. cynthia ssp. plays no role in sex determination and reproduction, and thus does not contribute to the formation of reproductive barriers between different subspecies.

Inter-chromosomal heterogeneity in the formation of radiation induced chromosomal aberrations

International Nuclear Information System (INIS)

Natarajan, A.T.; Vermeulen, S.; Boei, J.J.W.A.

1997-01-01

It is generally assumed that radiation induced chromosomal lesions are distributed randomly and repaired randomly among the genome. Recent studies using fluorescent in situ hybridization (FISH) and chromosome specific DNA libraries indicate that some chromosomes are more sensitive for radiation induced aberration formation than others. Chromosome No. 4 in human and chromosome No. 8 in Chinese hamster have been found to involve more in exchange aberrations than others, when calculated on the basis of their DNA content. Painting with arm specific chromosome libraries indicate that the frequencies of radiation induced intra-chromosome exchanges (i.e., between the arms of a chromosome, such as centric rings and inversions) are far in excess than one would expect on the basis of the frequencies of observed inter-chromosomal exchanges. The possible factors leading to the observed heterogeneity will be discussed

Transmission of chromosomal and instability via a chromosome irradiated with ionizing radiation

International Nuclear Information System (INIS)

Kodama, Seiji; Tanabe, Masateru; Shiraishi, Kazunori; Oshimura, Mitsuo

2010-01-01

We examined the stability of the transferred chromosome in 5 and 12 microcell hybrids including unirradiated human chromosomes 6 and 8, respectively, and 6 and 19 microcell hybrids including 4 Gy-irradiated human chromosomes 6 and 8, respectively. The transferred chromosome was structurally stable in most microcell hybrids transferred with the unirradiated chromosomes 6 and 8. In contrast, the 4 Gy-irradiated human chromosomes were unstable in 3 out of 6 hybrids (50%) with chromosome 6 and 3 out of 19 hybrids (16%) with chromosome 8, showing multiple aberrations in high frequencies (35∼98%). To know the cause of delayed chromosomal instability, intrachromosomal rearrangements of the human chromosome is investigated by subtelomere FISH in 17 microcell hybrids transferred with chromosomes 6 and 8. We found frequent intrachromosomal in 7 microcell hybrids (41%). However, no clear correlation was observed between the intrachromosomal rearrangements and the induction of delayed chromosomal instability by ionizing radiation

Maternal and Paternal Parenting Styles in Adolescents: Associations with Self-Esteem, Depression and Life-Satisfaction

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Milevsky, Avidan; Schlechter, Melissa; Netter, Sarah; Keehn, Danielle

2007-01-01

Our study examined variations in adolescent adjustment as a function of maternal and paternal parenting styles. Participants included 272 students in grades 9 and 11 from a public high school in a metropolitan area of the Northeastern US. Participants completed measures of maternal and paternal parenting styles and indices of psychological…

Mitotic chromosome structure

International Nuclear Information System (INIS)

Heermann, Dieter W.

2012-01-01

Mounting evidence is compiling linking the physical organizational structure of chromosomes and the nuclear structure to biological function. At the base of the physical organizational structure of both is the concept of loop formation. This implies that physical proximity within chromosomes is provided for otherwise distal genomic regions and thus hierarchically organizing the chromosomes. Together with entropy many experimental observations can be explained with these two concepts. Among the observations that can be explained are the measured physical extent of the chromosomes, their shape, mechanical behavior, the segregation into territories (chromosomal and territories within chromosomes), the results from chromosome conformation capture experiments, as well as linking gene expression to structural organization.

Mitotic chromosome structure

Energy Technology Data Exchange (ETDEWEB)

Heermann, Dieter W., E-mail: heermann@tphys.uni-heidelberg.de

2012-07-15

Mounting evidence is compiling linking the physical organizational structure of chromosomes and the nuclear structure to biological function. At the base of the physical organizational structure of both is the concept of loop formation. This implies that physical proximity within chromosomes is provided for otherwise distal genomic regions and thus hierarchically organizing the chromosomes. Together with entropy many experimental observations can be explained with these two concepts. Among the observations that can be explained are the measured physical extent of the chromosomes, their shape, mechanical behavior, the segregation into territories (chromosomal and territories within chromosomes), the results from chromosome conformation capture experiments, as well as linking gene expression to structural organization.

Fathers, Mothers, Marriages, and Children: Toward a Contextual Model of Positive Paternal Influence

OpenAIRE

Rodriguez, Ariel

2000-01-01

This research explored positive paternal involvement in the lives of children within the broader familial context of marital dynamics and positive maternal involvement. The National Survey of Families and Households (NSFH) was used to obtain a longitudinal subsample of 582 first-married couples, as well as the wide range of variables necessary to explore this broader context of paternal influence. Three research questions guided the study: (I) What is the unique contribution of positive pater...

The Impact of Paternal and Maternal Smoking on Semen Quality of Adolescent Men.

OpenAIRE

Axelsson, Jonatan; Rylander, Lars; Rignell-Hydbom, Anna; Silfver, Karl Ågren; Stenqvist, Amelie; Giwercman, Aleksander

2013-01-01

Background Maternal smoking during pregnancy has been reported to negatively impact sperm counts of the sons. Sufficient data on the effect of paternal smoking is lacking. Objectives We wished to elucidate the impact of maternal and paternal smoking during pregnancy and current own smoking on reproductive function of the male offspring. Methods Semen parameters including sperm DNA integrity were analyzed in 295 adolescents from the general population close to Malm?, Sweden, recruited for the ...

Influences of maternal and paternal PTSD on epigenetic regulation of the glucocorticoid receptor gene in Holocaust survivor offspring.

Science.gov (United States)

Yehuda, Rachel; Daskalakis, Nikolaos P; Lehrner, Amy; Desarnaud, Frank; Bader, Heather N; Makotkine, Iouri; Flory, Janine D; Bierer, Linda M; Meaney, Michael J

2014-08-01

Differential effects of maternal and paternal posttraumatic stress disorder (PTSD) have been observed in adult offspring of Holocaust survivors in both glucocorticoid receptor sensitivity and vulnerability to psychiatric disorder. The authors examined the relative influences of maternal and paternal PTSD on DNA methylation of the exon 1F promoter of the glucocorticoid receptor (GR-1F) gene (NR3C1) in peripheral blood mononuclear cells and its relationship to glucocorticoid receptor sensitivity in Holocaust offspring. Adult offspring with at least one Holocaust survivor parent (N=80) and demographically similar participants without parental Holocaust exposure or parental PTSD (N=15) completed clinical interviews, self-report measures, and biological procedures. Blood samples were collected for analysis of GR-1F promoter methylation and of cortisol levels in response to low-dose dexamethasone, and two-way analysis of covariance was performed using maternal and paternal PTSD as main effects. Hierarchical clustering analysis was used to permit visualization of maternal compared with paternal PTSD effects on clinical variables and GR-1F promoter methylation. A significant interaction demonstrated that in the absence of maternal PTSD, offspring with paternal PTSD showed higher GR-1F promoter methylation, whereas offspring with both maternal and paternal PTSD showed lower methylation. Lower GR-1F promoter methylation was significantly associated with greater postdexamethasone cortisol suppression. The clustering analysis revealed that maternal and paternal PTSD effects were differentially associated with clinical indicators and GR-1F promoter methylation. This is the first study to demonstrate alterations of GR-1F promoter methylation in relation to parental PTSD and neuroendocrine outcomes. The moderation of paternal PTSD effects by maternal PTSD suggests different mechanisms for the intergenerational transmission of trauma-related vulnerabilities.

Low paternity skew and the influence of maternal kin in an egalitarian, patrilocal primate.

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Strier, Karen B; Chaves, Paulo B; Mendes, Sérgio L; Fagundes, Valéria; Di Fiore, Anthony

2011-11-22

Levels of reproductive skew vary in wild primates living in multimale groups depending on the degree to which high-ranking males monopolize access to females. Still, the factors affecting paternity in egalitarian societies remain unexplored. We combine unique behavioral, life history, and genetic data to evaluate the distribution of paternity in the northern muriqui (Brachyteles hypoxanthus), a species known for its affiliative, nonhierarchical relationships. We genotyped 67 individuals (22 infants born over a 3-y period, their 21 mothers, and all 24 possible sires) at 17 microsatellite marker loci and assigned paternity to all infants. None of the 13 fathers were close maternal relatives of females with which they sired infants, and the most successful male sired a much lower percentage of infants (18%) than reported for the most successful males in other species. Our findings of inbreeding avoidance and low male reproductive skew are consistent with the muriqui's observed social and sexual behavior, but the long delay (≥2.08 y) between the onset of male sexual behavior and the age at which males first sire young is unexpected. The allocation of paternity implicates individual male life histories and access to maternal kin as key factors influencing variation in paternal--and grandmaternal--fitness. The apparent importance of lifelong maternal investment in coresident sons resonates with other recent examinations of maternal influences on offspring reproduction. This importance also extends the implications of the "grandmother hypothesis" in human evolution to include the possible influence of mothers and other maternal kin on male reproductive success in patrilocal societies.

Paternal education status significantly influences infants' measles vaccination uptake, independent of maternal education status.

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Rammohan, Anu; Awofeso, Niyi; Fernandez, Renae C

2012-05-08

Despite increased funding of measles vaccination programs by national governments and international aid agencies, structural factors encumber attainment of childhood measles immunisation to levels which may guarantee herd immunity. One of such factors is parental education status. Research on the links between parental education and vaccination has typically focused on the influence of maternal education status. This study aims to demonstrate the independent influence of paternal education status on measles immunisation. Comparable nationally representative survey data were obtained from six countries with the highest numbers of children missing the measles vaccine in 2008. Logistic regression analysis was applied to examine the influence of paternal education on uptake of the first dose of measles vaccination, independent of maternal education, whilst controlling for confounding factors such as respondent's age, urban/rural residence, province/state of residence, religion, wealth and occupation. The results of the analysis show that even if a mother is illiterate, having a father with an education of Secondary (high school) schooling and above is statistically significant and positively correlated with the likelihood of a child being vaccinated for measles, in the six countries analysed. Paternal education of secondary or higher level was significantly and independently correlated with measles immunisation uptake after controlling for all potential confounders. The influence of paternal education status on measles immunisation uptake was investigated and found to be statistically significant in six nations with the biggest gaps in measles immunisation coverage in 2008. This study underscores the imperative of utilising both maternal and paternal education as screening variables to identify children at risk of missing measles vaccination prospectively.

Chromosomal aberration

International Nuclear Information System (INIS)

Ishii, Yutaka

1988-01-01

Chromosomal aberrations are classified into two types, chromosome-type and chromatid-type. Chromosom-type aberrations include terminal deletion, dicentric, ring and interstitial deletion, and chromatid-type aberrations include achromatic lesion, chromatid deletion, isochromatid deletion and chromatid exchange. Clastogens which induce chromosomal aberration are divided into ''S-dependent'' agents and ''S-independent''. It might mean whether they can induce double strand breaks independent of the S phase or not. Double strand breaks may be the ultimate lesions to induce chromosomal aberrations. Caffeine added even in the G 2 phase appeared to modify the frequency of chromatid aberrations induced by X-rays and mitomycin C. Those might suggest that the G 2 phase involves in the chromatid aberration formation. The double strand breaks might be repaired by ''G 2 repair system'', the error of which might yield breakage types of chromatid aberrations and the by-pass of which might yield chromatid exchanges. Chromosome-type aberrations might be formed in the G 1 phase. (author)

Caenorhabditis elegans polo-like kinase PLK-1 is required for merging parental genomes into a single nucleus.

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Rahman, Mohammad M; Munzig, Mandy; Kaneshiro, Kiyomi; Lee, Brandon; Strome, Susan; Müller-Reichert, Thomas; Cohen-Fix, Orna

2015-12-15

Before the first zygotic division, the nuclear envelopes of the maternal and paternal pronuclei disassemble, allowing both sets of chromosomes to be incorporated into a single nucleus in daughter cells after mitosis. We found that in Caenorhabditis elegans, partial inactivation of the polo-like kinase PLK-1 causes the formation of two nuclei, containing either the maternal or paternal chromosomes, in each daughter cell. These two nuclei gave rise to paired nuclei in all subsequent cell divisions. The paired-nuclei phenotype was caused by a defect in forming a gap in the nuclear envelopes at the interface between the two pronuclei during the first mitotic division. This was accompanied by defects in chromosome congression and alignment of the maternal and paternal metaphase plates relative to each other. Perturbing chromosome congression by other means also resulted in failure to disassemble the nuclear envelope between the two pronuclei. Our data further show that PLK-1 is needed for nuclear envelope breakdown during early embryogenesis. We propose that during the first zygotic division, PLK-1-dependent chromosome congression and metaphase plate alignment are necessary for the disassembly of the nuclear envelope between the two pronuclei, ultimately allowing intermingling of the maternal and paternal chromosomes. © 2015 Rahman et al. This article is distributed by The American Society for Cell Biology under license from the author(s). Two months after publication it is available to the public under an Attribution–Noncommercial–Share Alike 3.0 Unported Creative Commons License (http://creativecommons.org/licenses/by-nc-sa/3.0).

[Paternal exposure to occupational electromagnetic radiation and sex ratio of the offspring: a meta-analysis].

Science.gov (United States)

Tong, Shu-Hui; Liu, Yi-Ting; Liu, Yang

2013-02-01

To investigate the association between paternal exposure to occupational electromagnetic radiation and the sex ratio of the offspring. We searched various databases, including PubMed, Embase, Cochrane Library, OVID, Bioscience Information Service (BIOSIS), China National Knowledge Infrastructure, VIP Database for Chinese Technical Periodicals and Wanfang Database, for the literature relevant to the association of paternal exposure to occupational electromagnetic radiation with the sex ratio of the offspring. We conducted a meta-analysis on their correlation using Stata 11.0. There was no statistically significant difference in the sex ratio between the offspring with paternal exposure to occupational electromagnetic radiation and those without (pooled OR = 1.00 [95% CI: 0.95 -1.05], P = 0.875). Subgroup analysis of both case-control and cohort studies revealed no significant difference (pooled OR = 1.03 [95% CI: 0.99 -1.08], P = 0.104 and pooled OR = 0.98 [95% CI: 0.99 -1.08], P = 0.186, respectively). Paternal exposure to occupational electromagnetic radiation is not correlated with the sex ratio of the offspring.

Cancer, obesity, and legitimation of suggested lifestyles: a libertarian paternalism approach.

Science.gov (United States)

Boniolo, Giovanni; Rebba, Vincenzo

2015-01-01

We know that around 30% of all cancers are preventable. We also know that there is clear evidence of the causal relations between obesity and cancer. This means that there could be lifestyles that could prevent obesity and, thus, cancer. Yet, who legitimises these lifestyles and on which ground? Should citizens be free to accept or not to accept policies concerning them? This is a problem faced within what has been named libertarian paternalism. We discuss it, also proposing a version that we call deliberative libertarian paternalism, showing how important this problem is for a proper framing of the lifestyle policies concerning obesity and, thus, cancer prevention.

Y-chromosome evolution: emerging insights into processes of Y-chromosome degeneration.

Science.gov (United States)

Bachtrog, Doris

2013-02-01

The human Y chromosome is intriguing not only because it harbours the master-switch gene that determines gender but also because of its unusual evolutionary history. The Y chromosome evolved from an autosome, and its evolution has been characterized by massive gene decay. Recent whole-genome and transcriptome analyses of Y chromosomes in humans and other primates, in Drosophila species and in plants have shed light on the current gene content of the Y chromosome, its origins and its long-term fate. Furthermore, comparative analysis of young and old Y chromosomes has given further insights into the evolutionary and molecular forces triggering Y-chromosome degeneration and into the evolutionary destiny of the Y chromosome.

Y chromosome haplotype diversity of domestic sheep (Ovis aries) in northern Eurasia.

Science.gov (United States)

Zhang, Min; Peng, Wei-Feng; Yang, Guang-Li; Lv, Feng-Hua; Liu, Ming-Jun; Li, Wen-Rong; Liu, Yong-Gang; Li, Jin-Quan; Wang, Feng; Shen, Zhi-Qiang; Zhao, Sheng-Guo; Hehua, Eer; Marzanov, Nurbiy; Murawski, Maziek; Kantanen, Juha; Li, Meng-Hua

2014-12-01

Variation in two SNPs and one microsatellite on the Y chromosome was analyzed in a total of 663 rams representing 59 breeds from a large geographic range in northern Eurasia. SNPA-oY1 showed the highest allele frequency (91.55%) across the breeds, whereas SNPG-oY1 was present in only 56 samples. Combined genotypes established seven haplotypes (H4, H5, H6, H7, H8, H12 and H19). H6 dominated in northern Eurasia, and H8 showed the second-highest frequency. H4, which had been earlier reported to be absent in European breeds, was detected in one European breed (Swiniarka), whereas H7, which had been previously identified to be unique to European breeds, was present in two Chinese breeds (Ninglang Black and Large-tailed Han), one Buryatian (Transbaikal Finewool) and two Russian breeds (North Caucasus Mutton-Wool and Kuibyshev). H12, which had been detected only in Turkish breeds, was also found in Chinese breeds in this work. An overall low level of haplotype diversity (median h = 0.1288) was observed across the breeds with relatively higher median values in breeds from the regions neighboring the Near Eastern domestication center of sheep. H6 is the dominant haplotype in northwestern and eastern China, in which the haplotype distribution could be explained by the historical translocations of the H4 and H8 Y chromosomes to China via the Mongol invasions followed by expansions to northwestern and eastern China. Our findings extend previous results of sheep Y chromosomal genetic variability and indicate probably recent paternal gene flows between sheep breeds from distinct major geographic regions. © 2014 Stichting International Foundation for Animal Genetics.

Chromosomal abnormalities in human glioblastomas: gain in chromosome 7p correlating with loss in chromosome 10q.

Science.gov (United States)

Inda, María del Mar; Fan, Xing; Muñoz, Jorge; Perot, Christine; Fauvet, Didier; Danglot, Giselle; Palacio, Ana; Madero, Pilar; Zazpe, Idoya; Portillo, Eduardo; Tuñón, Teresa; Martínez-Peñuela, José María; Alfaro, Jorge; Eiras, José; Bernheim, Alain; Castresana, Javier S

2003-01-01

Various genomic alterations have been detected in glioblastoma. Chromosome 7p, with the epidermal growth factor receptor locus, together with chromosome 10q, with the phosphatase and tensin homologue deleted in chromosome 10 and deleted in malignant brain tumors-1 loci, and chromosome 9p, with the cyclin-dependent kinase inhibitor 2A locus, are among the most frequently damaged chromosomal regions in glioblastoma. In this study, we evaluated the genetic status of 32 glioblastomas by comparative genomic hybridization; the sensitivity of comparative genomic hybridization versus differential polymerase chain reaction to detect deletions at the phosphatase and tensin homologue deleted in chromosome 10, deleted in malignant brain tumors-1, and cyclin-dependent kinase inhibitor 2A loci and amplifications at the cyclin-dependent kinase 4 locus; the frequency of genetic lesions (gain or loss) at 16 different selected loci (including oncogenes, tumor-suppressor genes, and proliferation markers) mapping on 13 different chromosomes; and the possible existence of a statistical association between any pair of molecular markers studied, to subdivide the glioblastoma entity molecularly. Comparative genomic hybridization showed that the most frequent region of gain was chromosome 7p, whereas the most frequent losses occurred on chromosomes 10q and 13q. The only statistically significant association was found for 7p gain and 10q loss. Copyright 2002 Wiley-Liss, Inc.

Paternal breed effects on expression of IGF-II, BAK1 and BCL2-L1 in bovine preimplantation embryos

DEFF Research Database (Denmark)

Valleh, Mehdi Vafaye; Tahmoorespur, Mojtaba; Joupari, Morteza Daliri

2015-01-01

of this study was to investigate the effects of the paternal breed on the early embryonic development and relative expression of the maternally imprinted gene, IGF-II, and the apoptosis-related genes BAK1 and BCL2-L1 in in vitro produced (IVP) bovine embryos derived from two unrelated paternal breeds (Holstein......Summary The effects of the paternal breed on early embryo and later pre- and postnatal development are well documented. Several recent studies have suggested that such paternal effects may be mediated by the paternally induced epigenetic modifications during early embryogenesis. The objective...... and Brown Swiss). The degree of correlation of IGF-II expression pattern with embryo developmental competence and apoptosis-related genes was also investigated. The relative abundance of IGF-II, BCL2-L1 and BAK1 transcripts in day 8 embryos was measured by quantitative reverse-transcription polymerase chain...

The association between perceived maternal and paternal psychopathology and depression and anxiety symptoms in adolescent girls

Science.gov (United States)

Rasing, Sanne P. A.; Creemers, Daan H. M.; Janssens, Jan M. A. M.; Scholte, Ron H. J.

2015-01-01

Exposure to parental depression and anxiety is known to heighten the risk of internalizing symptoms and disorders in children and adolescents. Ample research has focused on the influence of maternal depression and anxiety, but the contribution of psychopathology in fathers remains unclear. We studied the relationships of perceived maternal and paternal psychopathology with adolescents’ depression and anxiety symptoms in a general population sample of 862 adolescent girls (age M = 12.39, SD = 0.79). Assessments included adolescents’ self-reports of their own depression and anxiety as well as their reports of maternal and paternal psychopathology. We found that perceived maternal and paternal psychopathology were both related to depression and anxiety symptoms in adolescent girls. A combination of higher maternal and paternal psychopathology was related to even higher levels of depression and anxiety in adolescent girls. Our findings showed that adolescents’ perceptions of their parents’ psychopathology are significantly related to their own emotional problems. PMID:26257664

Paternal inheritance of plastid-encoded transgenes in Petunia hybrida in the greenhouse and under field conditions.

Science.gov (United States)

Horn, Patricia; Nausch, Henrik; Baars, Susanne; Schmidtke, Jörg; Schmidt, Kerstin; Schneider, Anja; Leister, Dario; Broer, Inge

2017-12-01

As already demonstrated in greenhouse trials, outcrossing of transgenic plants can be drastically reduced via transgene integration into the plastid. We verified this result in the field with Petunia , for which the highest paternal leakage has been observed. The variety white 115 (W115) served as recipient and Pink Wave (PW) and the transplastomic variant PW T16, encoding the uid A reporter gene, as pollen donor. While manual pollination in the greenhouse led to over 90% hybrids for both crossings, the transgenic donor resulted only in 2% hybrids in the field. Nevertheless paternal leakage was detected in one case which proves that paternal inheritance of plastid-located transgenes is possible under artificial conditions. In the greenhouse, paternal leakage occurred in a frequency comparable to published results. As expected natural pollination reduced the hybrid formation in the field from 90 to 7.6% and the transgenic donor did not result in any hybrid.

Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome

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Tomaiuolo Anna

2011-04-01

Full Text Available Abstract Complex chromosome rearrangements are constitutional structural rearrangements involving three or more chromosomes or having more than two breakpoints. These are rarely seen in the general population but their frequency should be much higher due to balanced states with no phenotypic presentation. These abnormalities preferentially occur de novo during spermatogenesis and are transmitted in families through oogenesis. Here, we report a de novo complex chromosome rearrangement that interests eight chromosomes in eighteen-year-old boy with an abnormal phenotype consisting in moderate developmental delay, cleft palate, and facial dysmorphisms. Standard G-banding revealed four apparently balanced traslocations involving the chromosomes 1;13, 3;19, 9;15 and 14;18 that appeared to be reciprocal. Array-based comparative genomic hybridization analysis showed no imbalances at all the breakpoints observed except for an interstitial microdeletion on chromosome 15. This deletion is 1.6 Mb in size and is located at chromosome band 15q14, distal to the Prader-Willi/Angelman region. Comparing the features of our patient with published reports of patients with 15q14 deletion this finding corresponds to the smallest genomic region of overlap. The deleted segment at 15q14 was investigated for gene content.

Maternal KIR in combination with paternal HLA-C2 regulate human birth weight.

Science.gov (United States)

Hiby, Susan E; Apps, Richard; Chazara, Olympe; Farrell, Lydia E; Magnus, Per; Trogstad, Lill; Gjessing, Håkon K; Carrington, Mary; Moffett, Ashley

2014-06-01

Human birth weight is subject to stabilizing selection; babies born too small or too large are less likely to survive. Particular combinations of maternal/fetal immune system genes are associated with pregnancies where the babies are ≤ 5th birth weight centile, specifically an inhibitory maternal KIR AA genotype with a paternally derived fetal HLA-C2 ligand. We have now analyzed maternal KIR and fetal HLA-C combinations at the opposite end of the birth weight spectrum. Mother/baby pairs (n = 1316) were genotyped for maternal KIR as well as fetal and maternal HLA-C. Presence of a maternal-activating KIR2DS1 gene was associated with increased birth weight in linear or logistic regression analyses of all pregnancies >5th centile (p = 0.005, n = 1316). Effect of KIR2DS1 was most significant in pregnancies where its ligand, HLA-C2, was paternally but not maternally inherited by a fetus (p = 0.005, odds ratio = 2.65). Thus, maternal KIR are more frequently inhibitory with small babies but activating with big babies. At both extremes of birth weight, the KIR associations occur when their HLA-C2 ligand is paternally inherited by a fetus. We conclude that the two polymorphic immune gene systems, KIR and HLA-C, contribute to successful reproduction by maintaining birth weight between two extremes with a clear role for paternal HLA.

["Paternity leave"? Retrospective view on a delayed reform of maternity leave in Austria].

Science.gov (United States)

Munz, R

1984-01-01

Only 1 of 3 Austrian fathers involves himself daily in child rearing, and the younger the children, the less likely he is to be involved. Austria is among those European countries with the greatest pregnancy benefits. New mothers may take up to 1 year of paid maternity leave without fear of losing their jobs. This article uses 1982 Institute of Demography survey data to determine support for similar paternity leave for fathers. In the last few years, both Social Democrat and Conservative women have worked for this leave, although the movement has also found opposition by women in trade unions, as well as from conservative groups. Survey results show that 46% of married Austrian women, under age 40, favor paternity leave; 1 or 4 women can imagine their husbands taking such leave. Among husbands, 34% favored the leave option, and 1 of 4 could imagine taking the leave for a least part of the baby's first year. The study attempts to identify those husbands most likely to take advantage of paternity leave. At present, most men will not choose to stay with their children at the expense of earnings reduction. Compensation reforms for both mothers and fathers must first occur before men and women in a position to make real decisions on maternity and paternity leave.

Slit scan flow cytometry of isolated chromosomes following fluorescence hybridization: an approach of online screening for specific chromosomes and chromosome translocations

NARCIS (Netherlands)

Hausmann, M.; Dudin, G.; Aten, J. A.; Heilig, R.; Diaz, E.; Cremer, C.

1991-01-01

The recently developed methods of non radioactive in situ hybridization of chromosomes offer new aspects for chromosome analysis. Fluorescent labelling of hybridized chromosomes or chromosomal subregions allows to facilitate considerably the detection of specific chromosomal abnormalities. For many

Maternal Depression, Paternal Psychopathology, and Toddlers' Behavior Problems

Science.gov (United States)

Dietz, Laura J.; Jennings, Kay Donahue; Kelley, Sue A.; Marshal, Michael

2009-01-01

This article examined the effects of maternal depression during the postpartum period (Time 1) on the later behavior problems of toddlers (Time 3) and tested if this relationship was moderated by paternal psychopathology during toddlers' lives and/or mediated by maternal parenting behavior observed during mother-child interaction (Time 2). Of the…

Brief Report: Phenotypic Differences and Their Relationship to Paternal Age and Gender in Autism Spectrum Disorder

Science.gov (United States)

Vierck, Esther; Silverman, Jeremy M.

2015-01-01

Two modes of inheritance have been proposed in autism spectrum disorder, transmission though pre-existing variants and de novo mutations. Different modes may lead to different symptom expressions in affected individuals. De novo mutations become more likely with advancing paternal age suggesting that paternal age may predict phenotypic…

Chromosomal Translocations in Black Flies (Diptera: Simuliidae-Facilitators of Adaptive Radiation?

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Peter H Adler

Full Text Available A macrogenomic investigation of a Holarctic clade of black flies-the Simulium cholodkovskii lineage-provided a platform to explore the implications of a unique, synapomorphic whole-arm interchange in the evolution of black flies. Nearly 60 structural rearrangements were discovered in the polytene complement of the lineage, including 15 common to all 138 analyzed individuals, relative to the central sequence for the entire subgenus Simulium. Three species were represented, of which two Palearctic entities (Simulium cholodkovskii and S. decimatum were sympatric; an absence of hybrids confirmed their reproductive isolation. A third (Nearctic entity had nonhomologous sex chromosomes, relative to the other species, and is considered a separate species, for which the name Simulium nigricoxum is revalidated. A cytophylogeny is inferred and indicates that the two Palearctic taxa are sister species and these, in turn, are the sister group of the Nearctic species. The rise of the S. cholodkovskii lineage encompassed complex chromosomal and genomic restructuring phenomena associated with speciation in black flies, viz. expression of one and the same rearrangement as polymorphic, fixed, or sex linked in different species; taxon-specific differentiation of sex chromosomes; and reciprocal translocation of chromosome arms. The translocation is hypothesized to have occurred early in male spermatogonia, with the translocated chromosomal complement being transmitted to the X- and Y-bearing sperm during spermatogenesis, resulting in alternate disjunction of viable F1 translocation heterozygotes and the eventual formation of more viable and selectable F2 translocation homozygous progeny. Of 11 or 12 independently derived whole-arm interchanges known in the family Simuliidae, at least six are associated with subsequent speciation events, suggesting a facilitating role of translocations in adaptive radiations. The findings are discussed in the context of potential

A variety of genetic mechanisms are associated with the Prader-Willi syndrome

Energy Technology Data Exchange (ETDEWEB)

Woodage, T.; Deng, Z.M.; Prasad, M. [Royal Prince Alfred Hospital, Camperdown (Australia)] [and others

1994-09-15

An extensive set of chromosome 15 DNA polymorphisms and densitometric analysis with four markers mapping to the Prader-Willi chromosome region (PWCR) of chromosome 15 have been used to characterize a cohort of 30 subjects with classical Prader-Willi syndrome (PWS). Molecular analysis enabled the classification of the PWS subjects into four groups: (A) 18 subjects (60%) had deletions of paternal 15q11-13 involving a common set of DNA markers. Two subjects had differently sized deletions, one larger and one smaller than the other cases. (B) Eight (27%) had maternal uniparental disomy for chromosome 15. (C) One (3%) had a marker chromosome carrying an extra copy of the PWCR. The marker chromosome was demonstrated to be of paternal origin and the two intact chromosomes were maternally derived. This case represents an apparent exception to the generally held view that PWS is associated with an absence of paternally inherited gene(s) located in the PWCR. (D) The remaining three cases (10%) had none of the above abnormalities. This last subgroup of patients has not previously been well characterized but could represent limited deletions not detectable with the markers used or abnormalities in the imprinting process. These cases represent potentially valuable resources to elucidate more precisely the fundamental disorders responsible for PWS. 39 refs., 2 figs., 3 tabs.

Paternal education status significantly influences infants’ measles vaccination uptake, independent of maternal education status

Directory of Open Access Journals (Sweden)

Rammohan Anu

2012-07-01

Full Text Available Abstract Background Despite increased funding of measles vaccination programs by national governments and international aid agencies, structural factors encumber attainment of childhood measles immunisation to levels which may guarantee herd immunity. One of such factors is parental education status. Research on the links between parental education and vaccination has typically focused on the influence of maternal education status. This study aims to demonstrate the independent influence of paternal education status on measles immunisation. Methods Comparable nationally representative survey data were obtained from six countries with the highest numbers of children missing the measles vaccine in 2008. Logistic regression analysis was applied to examine the influence of paternal education on uptake of the first dose of measles vaccination, independent of maternal education, whilst controlling for confounding factors such as respondent’s age, urban/rural residence, province/state of residence, religion, wealth and occupation. Results The results of the analysis show that even if a mother is illiterate, having a father with an education of Secondary (high school schooling and above is statistically significant and positively correlated with the likelihood of a child being vaccinated for measles, in the six countries analysed. Paternal education of secondary or higher level was significantly and independently correlated with measles immunisation uptake after controlling for all potential confounders. Conclusions The influence of paternal education status on measles immunisation uptake was investigated and found to be statistically significant in six nations with the biggest gaps in measles immunisation coverage in 2008. This study underscores the imperative of utilising both maternal and paternal education as screening variables to identify children at risk of missing measles vaccination prospectively.

Paternal education status significantly influences infants’ measles vaccination uptake, independent of maternal education status

Science.gov (United States)

2012-01-01

Background Despite increased funding of measles vaccination programs by national governments and international aid agencies, structural factors encumber attainment of childhood measles immunisation to levels which may guarantee herd immunity. One of such factors is parental education status. Research on the links between parental education and vaccination has typically focused on the influence of maternal education status. This study aims to demonstrate the independent influence of paternal education status on measles immunisation. Methods Comparable nationally representative survey data were obtained from six countries with the highest numbers of children missing the measles vaccine in 2008. Logistic regression analysis was applied to examine the influence of paternal education on uptake of the first dose of measles vaccination, independent of maternal education, whilst controlling for confounding factors such as respondent’s age, urban/rural residence, province/state of residence, religion, wealth and occupation. Results The results of the analysis show that even if a mother is illiterate, having a father with an education of Secondary (high school) schooling and above is statistically significant and positively correlated with the likelihood of a child being vaccinated for measles, in the six countries analysed. Paternal education of secondary or higher level was significantly and independently correlated with measles immunisation uptake after controlling for all potential confounders. Conclusions The influence of paternal education status on measles immunisation uptake was investigated and found to be statistically significant in six nations with the biggest gaps in measles immunisation coverage in 2008. This study underscores the imperative of utilising both maternal and paternal education as screening variables to identify children at risk of missing measles vaccination prospectively. PMID:22568861

Paternal history of diabetes mellitus and hypertension affects the prevalence and phenotype of PCOS.

Science.gov (United States)

Cheng, Chen; Zhang, Haolin; Zhao, Yue; Li, Rong; Qiao, Jie

2015-12-01

The purpose of the present study is to determine if paternal or maternal history of diabetes mellitus (DM) and hypertension (HT) contributes to the prevalence and phenotype of polycystic ovary syndrome (PCOS). We performed an epidemiologic study about PCOS from four districts in Beijing, China, between 2008 and 2009. Parental histories of DM and HT were collected, and the basic characteristics and serum indices of 123 PCOS patients and 718 non-PCOS controls were tested. The prevalence of a parental history of DM and HT was significantly higher in PCOS patients than non-PCOS women (17.1 % vs. 9.2 % and 42.3 % vs. 26.0 %, P PCOS and non-PCOS patients (odds ratio (OR) = 3.42, 95 % confidence interval (CI) = 1.69-6.91; OR = 2.50, 95 % CI = 1.58-3.93, respectively). A paternal history of both DM and HT was significantly associated with sex hormone-binding globulin, fasting plasma glucose, and fasting insulin levels, the free androgen index, and the homeostatic model assessment-insulin resistance in PCOS patients (P PCOS. PCOS patients with a positive paternal history of both DM and HT have an adverse endocrine and metabolic profile. A paternal history of DM and HT poses a risk to PCOS.

Child gender influences paternal behavior, language, and brain function.

Science.gov (United States)

Mascaro, Jennifer S; Rentscher, Kelly E; Hackett, Patrick D; Mehl, Matthias R; Rilling, James K

2017-06-01

Multiple lines of research indicate that fathers often treat boys and girls differently in ways that impact child outcomes. The complex picture that has emerged, however, is obscured by methodological challenges inherent to the study of parental caregiving, and no studies to date have examined the possibility that gender differences in observed real-world paternal behavior are related to differential paternal brain responses to male and female children. Here we compare fathers of daughters and fathers of sons in terms of naturalistically observed everyday caregiving behavior and neural responses to child picture stimuli. Compared with fathers of sons, fathers of daughters were more attentively engaged with their daughters, sang more to their daughters, used more analytical language and language related to sadness and the body with their daughters, and had a stronger neural response to their daughter's happy facial expressions in areas of the brain important for reward and emotion regulation (medial and lateral orbitofrontal cortex [OFC]). In contrast, fathers of sons engaged in more rough and tumble play (RTP), used more achievement language with their sons, and had a stronger neural response to their son's neutral facial expressions in the medial OFC (mOFC). Whereas the mOFC response to happy faces was negatively related to RTP, the mOFC response to neutral faces was positively related to RTP, specifically for fathers of boys. These results indicate that real-world paternal behavior and brain function differ as a function of child gender. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

Father Involvement: The Importance of Paternal Solo Care

Science.gov (United States)

Wilson, Katherine R.; Prior, Margot R.

2010-01-01

Paternal time spent caring for children alone is qualitatively different from time together mediated by the presence of the mother and may be particularly relevant to father-child relations. Many fathers spend minimal time alone with their children. Indeed, it is still commonly referred to as "babysitting". We explored the concept of Solo Care as…

Histone variant H3.3-mediated chromatin remodeling is essential for paternal genome activation in mouse preimplantation embryos.

Science.gov (United States)

Kong, Qingran; Banaszynski, Laura A; Geng, Fuqiang; Zhang, Xiaolei; Zhang, Jiaming; Zhang, Heng; O'Neill, Claire L; Yan, Peidong; Liu, Zhonghua; Shido, Koji; Palermo, Gianpiero D; Allis, C David; Rafii, Shahin; Rosenwaks, Zev; Wen, Duancheng

2018-03-09

Derepression of chromatin-mediated transcriptional repression of paternal and maternal genomes is considered the first major step that initiates zygotic gene expression after fertilization. The histone variant H3.3 is present in both male and female gametes and is thought to be important for remodeling the paternal and maternal genomes for activation during both fertilization and embryogenesis. However, the underlying mechanisms remain poorly understood. Using our H3.3B-HA-tagged mouse model, engineered to report H3.3 expression in live animals and to distinguish different sources of H3.3 protein in embryos, we show here that sperm-derived H3.3 (sH3.3) protein is removed from the sperm genome shortly after fertilization and extruded from the zygotes via the second polar bodies (PBII) during embryogenesis. We also found that the maternal H3.3 (mH3.3) protein is incorporated into the paternal genome as early as 2 h postfertilization and is detectable in the paternal genome until the morula stage. Knockdown of maternal H3.3 resulted in compromised embryonic development both of fertilized embryos and of androgenetic haploid embryos. Furthermore, we report that mH3.3 depletion in oocytes impairs both activation of the Oct4 pluripotency marker gene and global de novo transcription from the paternal genome important for early embryonic development. Our results suggest that H3.3-mediated paternal chromatin remodeling is essential for the development of preimplantation embryos and the activation of the paternal genome during embryogenesis. © 2018 by The American Society for Biochemistry and Molecular Biology, Inc.

"Nudge" in the clinical consultation--an acceptable form of medical paternalism?

Science.gov (United States)

Aggarwal, Ajay; Davies, Joanna; Sullivan, Richard

2014-04-17

Libertarian paternalism is a concept derived from cognitive psychology and behavioural science. It is behind policies that frame information in such a way as to encourage individuals to make choices which are in their best interests, while maintaining their freedom of choice. Clinicians may view their clinical consultations as far removed from the realms of cognitive psychology but on closer examination there are a number of striking similarities. Evidence has shown that decision making is prone to bias and not necessarily rational or logical, particularly during ill health. Clinicians will usually have an opinion about what course of action represents the patient's best interests and thus may "frame" information in a way which "nudges" patients into making choices which are considered likely to maximise their welfare. This may be viewed as interfering with patient autonomy and constitute medical paternalism and appear in direct opposition to the tenets of modern practice. However, we argue that clinicians have a responsibility to try and correct "reasoning failure" in patients. Some compromise between patient autonomy and medical paternalism is justified on these grounds and transparency of how these techniques may be used should be promoted. Overall the extremes of autonomy and paternalism are not compatible in a responsive, responsible and moral health care environment, and thus some compromise of these values is unavoidable. Nudge techniques are widely used in policy making and we demonstrate how they can be applied in shared medical decision making. Whether or not this is ethically sound is a matter of continued debate but health care professionals cannot avoid the fact they are likely to be using nudge within clinical consultations. Acknowledgment of this will lead to greater self-awareness, reflection and provide further avenues for debate on the art and science of clinical communication.

Soft Paternalism and Nudging - Critique of the Behavioral Foundations

OpenAIRE

Pasche, Markus

2014-01-01

This brief note rises doubts on the argument that nudging will help people to behave more rational in terms of their own preferences. This justification of soft paternalism overlooks some methodological problems of expected utility theory which are one of the roots of behavioral economics.

Mechanisms of Association between Paternal Alcoholism and Abuse of Alcohol and Other Illicit Drugs among Adolescents

Science.gov (United States)

Peleg-Oren, Neta; Hospital, Michelle; Morris, Staci Leon; Wagner, Eric F.

2013-01-01

The current study examines the effect of paternal alcohol problems on adolescent use of alcohol and other illicit drugs as a function of maternal communication, as well as adolescent social and coping skills (N = 145). Structural equation modeling (SEM) analyses indicated that adolescents with a paternal history of alcohol problems reported higher…

Towards a consensus Y-chromosomal phylogeny and Y-SNP set in forensics in the next-generation sequencing era.

Science.gov (United States)

Larmuseau, Maarten H D; Van Geystelen, Anneleen; Kayser, Manfred; van Oven, Mannis; Decorte, Ronny

2015-03-01

Currently, several different Y-chromosomal phylogenies and haplogroup nomenclatures are presented in scientific literature and at conferences demonstrating the present diversity in Y-chromosomal phylogenetic trees and Y-SNP sets used within forensic and anthropological research. This situation can be ascribed to the exponential growth of the number of Y-SNPs discovered due to mostly next-generation sequencing (NGS) studies. As Y-SNPs and their respective phylogenetic positions are important in forensics, such as for male lineage characterization and paternal bio-geographic ancestry inference, there is a need for forensic geneticists to know how to deal with these newly identified Y-SNPs and phylogenies, especially since these phylogenies are often created with other aims than to carry out forensic genetic research. Therefore, we give here an overview of four categories of currently used Y-chromosomal phylogenies and the associated Y-SNP sets in scientific research in the current NGS era. We compare these categories based on the construction method, their advantages and disadvantages, the disciplines wherein the phylogenetic tree can be used, and their specific relevance for forensic geneticists. Based on this overview, it is clear that an up-to-date reduced tree with a consensus Y-SNP set and a stable nomenclature will be the most appropriate reference resource for forensic research. Initiatives to reach such an international consensus are therefore highly recommended. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

Sexually transmitted diphtheria.

Science.gov (United States)

Berger, Anja; Lensing, Carmen; Konrad, Regina; Huber, Ingrid; Hogardt, Michael; Sing, Andreas

2013-03-01

Diphtheria is caused by diphtheria toxin-producing Corynebacterium species. While classical respiratory diphtheria is transmitted by droplets, cutaneous diphtheria often results from minor trauma. This report concerns the first case of sexually transmitted diphtheria in a patient with non-gonococcal urethritis after orogenital contact.

Advancing paternal age and offspring violent offending: a sibling-comparison study.

Science.gov (United States)

Kuja-Halkola, Ralf; Pawitan, Yudi; D'Onofrio, Brian M; Långström, Niklas; Lichtenstein, Paul

2012-08-01

Children born to older fathers are at higher risk to develop severe psychopathology (e.g., schizophrenia and bipolar disorder), possibly because of increased de novo mutations during spermatogenesis with older paternal age. Because severe psychopathology is correlated with antisocial behavior, we examined possible associations between advancing paternal age and offspring violent offending. Interlinked Swedish national registers provided information on fathers' age at childbirth and violent criminal convictions in all offspring born from 1958 to 1979 (N = 2,359,921). We used ever committing a violent crime and number of violent crimes as indices of violent offending. The data included information on multiple levels; we compared differentially exposed siblings in within-family analyses to rigorously test causal influences. In the entire population, advancing paternal age predicted offspring violent crime according to both indices. Congruent with a causal effect, this association remained for rates of violent crime in within-family analyses. However, in within-family analyses, we found no association with ever committing a violent crime, suggesting that factors shared by siblings (genes and environment) confounded this association. Life-course persistent criminality has been proposed to have a partly biological etiology; our results agree with a stronger biological effect (i.e., de novo mutations) on persistent violent offending.

Effects of paternal deprivation on cocaine-induced behavioral response and hypothalamic oxytocin immunoreactivity and serum oxytocin level in female mandarin voles.

Science.gov (United States)

Wang, Jianli; Fang, Qianqian; Yang, Chenxi

2017-09-15

Early paternal behavior plays a critical role in behavioral development in monogamous species. The vast majority of laboratory studies investigating the influence of parental behavior on cocaine vulnerability focus on the effects of early maternal separation. However, comparable studies on whether early paternal deprivation influences cocaine-induced behavioral response are substantially lacking. Mandarin vole (Microtus mandarinus) is a monogamous rodent with high levels of paternal care. After mandarin vole pups were subjected to early paternal deprivation, acute cocaine- induced locomotion, anxiety- like behavior and social behavior were examined in 45day old female pups, while hypothalamic oxytocin immunoreactivity and serum oxytocin level were also assessed. We found that cocaine increased locomotion and decreased social investigation, contact behavior and serum oxytocin level regardless of paternal care. Cocaine increased anxiety levels and decreased oxytocin immunoreactive neurons of the paraventricular nuclei and supraoptic nuclei in the bi-parental care group, whilst there were no specific effects in the paternal deprivation group. These results indicate that paternal deprivation results in different behavioral response to acute cocaine exposure in adolescents, which may be in part associated with the alterations in oxytocin immunoreactivity and peripheral OT level. Copyright © 2017 Elsevier B.V. All rights reserved.

Evolutionary and dispersal history of Triatoma infestans, main vector of Chagas disease, by chromosomal markers.

Science.gov (United States)

Panzera, Francisco; Ferreiro, María J; Pita, Sebastián; Calleros, Lucía; Pérez, Ruben; Basmadjián, Yester; Guevara, Yenny; Brenière, Simone Frédérique; Panzera, Yanina

2014-10-01

Chagas disease, one of the most important vector-borne diseases in the Americas, is caused by Trypanosoma cruzi and transmitted to humans by insects of the subfamily Triatominae. An effective control of this disease depends on elimination of vectors through spraying with insecticides. Genetic research can help insect control programs by identifying and characterizing vector populations. In southern Latin America, Triatoma infestans is the main vector and presents two distinct lineages, known as Andean and non-Andean chromosomal groups, that are highly differentiated by the amount of heterochromatin and genome size. Analyses with nuclear and mitochondrial sequences are not conclusive about resolving the origin and spread of T. infestans. The present paper includes the analyses of karyotypes, heterochromatin distribution and chromosomal mapping of the major ribosomal cluster (45S rDNA) to specimens throughout the distribution range of this species, including pyrethroid-resistant populations. A total of 417 specimens from seven different countries were analyzed. We show an unusual wide rDNA variability related to number and chromosomal position of the ribosomal genes, never before reported in species with holocentric chromosomes. Considering the chromosomal groups previously described, the ribosomal patterns are associated with a particular geographic distribution. Our results reveal that the differentiation process between both T. infestans chromosomal groups has involved significant genomic reorganization of essential coding sequences, besides the changes in heterochromatin and genomic size previously reported. The chromosomal markers also allowed us to detect the existence of a hybrid zone occupied by individuals derived from crosses between both chromosomal groups. Our genetic studies support the hypothesis of an Andean origin for T. infestans, and suggest that pyrethroid-resistant populations from the Argentinean-Bolivian border are most likely the result of

The influence of fathers' socioeconomic status and paternity leave on breastfeeding duration: a population-based cohort study.

Science.gov (United States)

Flacking, Renée; Dykes, Fiona; Ewald, Uwe

2010-06-01

The propensity to breastfeed is a matter of public concern because of the favourable effects for infants. However, very few studies have described the influence of paternal variables upon duration of breastfeeding. The aim of this study was to describe the effects of fathers' socioeconomic status and their use of paternity leave on breastfeeding duration for infants up to 1 year of age. A prospective population-based cohort study was undertaken. Data on breastfeeding, registered in databases in two Swedish counties for 1993-2001, were matched with data on socioeconomic status and paternity leave obtained from Statistics Sweden. Fathers of 51,671 infants were identified and included. Infants whose fathers had a lower level of education, were receiving unemployment benefit and/or had a lower equivalent disposable household income were significantly less likely to be breastfed at 2, 4, 6, 9, and 12 months of age. Infants whose fathers did not take paternity leave during the infant's first year were significantly less likely to be breastfed at 2 (p paternity leave, may have beneficial effects on breastfeeding up to 6 months of age. A more systematic approach to supporting fathers' involvement may be particularly valuable to those infants whose fathers have a lower socioeconomic status.

Molecular evidence for high frequency of multiple paternity in a freshwater shrimp species Caridina ensifera.

Directory of Open Access Journals (Sweden)

Gen Hua Yue

2010-09-01

Full Text Available Molecular genetic analyses of parentage provide insights into mating systems. Although there are 22,000 members in Malacostraca, not much has been known about mating systems in Malacostraca. The freshwater shrimp Caridina ensifera blue, is a new species belonging to Malacostraca which was discovered recently in Sulawesi, Indonesia. Due to its small body size and low fecundity, this species is an ideal species to study the occurrence and frequency of multiple paternity and to understand of how the low fecundity species persist and evolve.In this study, we developed four polymorphic microsatellites from C. ensifera and applied them to investigate the occurrence and frequency of multiple paternity in 20 C. ensifera broods caught from Lake Matano, Sulawesi. By genotyping the mother and all offspring from each brood we discovered multiple paternity in all 20 broods. In most of the 20 broods, fathers contributed skewed numbers of offspring and there was an apparent inverse correlation between reproductive success of sires and their relatedness to mothers.Our results in combination with recent reports on multiple paternity in crayfish, crab and lobster species suggests that multiple paternity is common in Malacostraca. Skewed contribution of fathers to the numbers of offspring and inverse correlation between reproductive success of sires and their relatedness to mothers suggest that sperm competition occurred and/or pre- and postcopulatory female choice happen, which may be important for avoiding the occurrence of inbreeding and optimize genetic variation in offspring and for persistence and evolution of low fecundity species.

The influences of parental divorce and maternal-versus-paternal alcohol abuse on offspring lifetime suicide attempt.

Science.gov (United States)

Thompson, Ronald G; Alonzo, Dana; Hu, Mei-Chen; Hasin, Deborah S

2017-05-01

Research indicates that parental divorce and parental alcohol abuse independently increase likelihood of offspring lifetime suicide attempt. However, when experienced together, only parental alcohol abuse significantly increased odds of suicide attempt. It is unclear to what extent differences in the effect of maternal versus paternal alcohol use exist on adult offspring lifetime suicide attempt risk. This study examined the influences of parental divorce and maternal-paternal histories of alcohol problems on adult offspring lifetime suicide attempt. The sample consisted of participants from the 2001-2002 National Epidemiological Survey on Alcohol and Related Conditions. The simultaneous effect of childhood or adolescent parental divorce and maternal and paternal history of alcohol problems on offspring lifetime suicide attempt was estimated using a logistic regression model with an interaction term for demographics and parental history of other emotional and behavioural problems. Parental divorce and maternal-paternal alcohol problems interacted to differentially influence the likelihood of offspring lifetime suicide attempt. Experiencing parental divorce and either maternal or paternal alcohol problems nearly doubled the likelihood of suicide attempt. Divorce and history of alcohol problems for both parents tripled the likelihood. Individuals who experienced parental divorce as children or adolescents and who have a parent who abuses alcohol are at elevated risk for lifetime suicide attempt. These problem areas should become a routine part of assessment to better identify those at risk for lifetime suicide attempt and to implement early and targeted intervention to decrease such risk. [Thompson RG Jr,Alonzo D, Hu M-C, Hasin DS. The influences of parental divorce and maternal-versus-paternal alcohol abuse on offspringlifetime suicide attempt. Drug Alcohol Rev 2017;36:408-414]. © 2016 Australasian Professional Society on Alcohol and other Drugs.

Relational conceptions of paternalism: a way to rebut nanny-state accusations and evaluate public health interventions.

Science.gov (United States)

Carter, S M; Entwistle, V A; Little, M

2015-08-01

'Nanny-state' accusations can function as powerful rhetorical weapons against interventions intended to promote public health. Public health advocates often lack effective rebuttals to these criticisms. Nanny-state accusations are largely accusations of paternalism. They conjure up emotive concern about undue governmental interference undermining peoples' autonomy. But autonomy can be understood in various ways. We outline three main conceptions of autonomy, argue that these that can underpin three different conceptions of paternalism, and consider implications for responses to nanny-state accusations and the assessment of public health interventions. Detailed conceptual analysis. The conceptions of paternalism implicit in nanny-state accusations generally depend on libertarian conceptions of autonomy. These reflect unrealistic views of personal independence and do not discriminate sufficiently between trivial and important freedoms. Decisional conceptions of paternalism, like their underlying decisional conceptions of autonomy, have limited applicability in public health contexts. Relational conceptions of paternalism incorporate relational conceptions of autonomy, so recognize that personal autonomy depends on socially shaped skills, self-identities and self-evaluations as well as externally structured opportunities. They encourage attention to the various ways that social interactions and relationships, including disrespect, stigmatization and oppression, can undermine potential for autonomy. While nanny-state accusations target any interference with negative freedom, however trivial, relational conceptions direct concerns to those infringements of negative freedom, or absences of positive freedom, serious enough to undermine self-determination, self-governance and/or self-authorization. Relational conceptions of autonomy and paternalism offer public health policymakers and practitioners a means for rebutting nanny-state accusations, and can support more nuanced

Paternal age at birth is associated with offspring leukocyte telomere length in the nurses' health study.

Science.gov (United States)

Prescott, J; Du, M; Wong, J Y Y; Han, J; De Vivo, I

2012-12-01

Is the association between paternal age at birth and offspring leukocyte telomere length (LTL) an artifact of early life socioeconomic status (SES)? Indicators of early life SES did not alter the relationship between paternal age at birth and offspring LTL among a population of white female nurses. Telomere length is considered a highly heritable trait. Recent studies report a positive correlation between paternal age at birth and offspring LTL. Maternal age at birth has also been positively associated with offspring LTL, but may stem from the strong correlation with paternal age at birth. The Nurses' Health Study (NHS) is an ongoing prospective cohort study of 121 700 female registered nurses who were enrolled in 1976. Great effort goes into maintaining a high degree of follow-up among our cohort participants (>95% of potential person-years). In 1989-1990, a subset of 32 826 women provided blood samples from which we selected participants for several nested case-control studies of telomere length and incident chronic disease. We used existing LTL data on a total of 4250 disease-free women who also reported maternal and paternal age at birth for this study. Nested case-control studies of stroke, myocardial infarction, cancers of the breast, endometrium, skin, pancreas and colon, as well as colon adenoma, were conducted within the blood sub-cohort. Each study used the following study design: for each case of a disease diagnosed after blood collection, a risk-set sampling scheme was used to select from one to three controls from the remaining participants in the blood sub-cohort who were free of that disease when the case was diagnosed. Controls were matched to cases by age at blood collection (± 1 year), date of blood collection (± 3 months), menopausal status, recent postmenopausal hormone use at blood collection (within 3 months, except for the myocardial infarction case-control study), as well as other factors carefully chosen for each individual study. The

Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation

DEFF Research Database (Denmark)

Nielsen, Mette Gilling; Lind-Thomsen, Allan; Mang, Yuan

2011-01-01

In a monozygotic twin couple with mental retardation (MR), we identified a maternally inherited inversion and a paternally inherited translocation: 46,XY,inv(10)(p11.2q21.2)mat,t(9;18)(p22;q21.1)pat. The maternally inherited inv(10) was a benign variant without any apparent phenotypical...... implications. The translocation breakpoint at 9p was within a cluster of interferon a genes and the 18q21 breakpoint truncated ZBTB7C (zinc finger and BTB containing 7C gene). In addition, analyses with array-CGH revealed a 931 kb maternally inherited deletion on chromosome 8q22 as well as an 875 kb maternally...... inherited duplication on 5p14. The deletion encompasses the RIM2 (Rab3A-interacting molecule 2), FZD6 (Frizzled homolog 6) and BAALC (Brain and Acute Leukemia Gene, Cytoplasmic) genes and the duplication includes the 5' end of the CDH9 (cadherin 9) gene. Exome sequencing did not reveal any additional...

Evaluation of discriminating power of 13 Y chromosome markers with high rate of mutation (RM Y-STR) in the Costa Rican population

International Nuclear Information System (INIS)

Solano Matamoros, Carlos

2014-01-01

The Y chromosome microsatellites analysis has had among its purposes the obtaining of a male haplotype from mixtures with high prevalence of female genetic material, such as sexual offenses. The currently available markers set as AmpFISTR® Yfiler® have offered haplotype resolution to level of incomplete patrilineal line. This limitation has been particularly important when is needed to supplement paternity studies. The implementation expected of the 13 Y chromosome microsatellites with high mutation rate (RM Y-STR) recently described, has improved the discriminating power of microsatellite analysis of Y in the forensic context. However, for implemetation it has been necessary to obtain the frequencies of haplotypes in the Costa Rican population. In addition, the discriminating power of the new markers is evaluated and compared with current markers set, such as AmpFISTR® Yfile®, to determine whether the former have an advantage over the latter. The use of a powerful new tool has been claimed for a more efficient and effective application of justice in Costa Rica, specially in sexual offenses [es

Paternal Age Explains a Major Portion of De Novo Germline Mutation Rate Variability in Healthy Individuals.

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Simon L Girard

Full Text Available De novo mutations (DNM are an important source of rare variants and are increasingly being linked to the development of many diseases. Recently, the paternal age effect has been the focus of a number of studies that attempt to explain the observation that increasing paternal age increases the risk for a number of diseases. Using disease-free familial quartets we show that there is a strong positive correlation between paternal age and germline DNM in healthy subjects. We also observed that germline CNVs do not follow the same trend, suggesting a different mechanism. Finally, we observed that DNM were not evenly distributed across the genome, which adds support to the existence of DNM hotspots.

Paternal Postnatal and Subsequent Mental Health Symptoms and Child Socio-Emotional and Behavioural Problems at School Entry

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Smith, Hannah R.; Eryigit-Madzwamuse, Suna; Barnes, Jacqueline

2013-01-01

Research on the effect of paternal mental health problems, particularly on young children, is based predominantly on clinical levels of depression. Furthermore, potential mediators such as marital discord have often been overlooked. This longitudinal community study assessed the association between paternal mental health symptoms in a community…

Paternal masculinities in early fatherhood: dominant and counter narratives by Finnish first-time fathers

OpenAIRE

Eerola, Petteri; Mykkänen, Johanna

2013-01-01

In this article, we seek to extend understanding of the role of gender in early fatherhood by examining narratives of paternal masculinities, that is, the social and cultural constructions of gendered practices and conventions produced by men on their roles as male parents. The data comprised interviews with 44 Finnish first-time fathers (aged 20-42 years) living in a heterosexual relationship. The narrative of the “decent father,” was identified as the dominant narrative of paternal masculin...

Hubungan Kejadian Penyakit Autistik pada Anak dengan Usia Maternal dan Paternal di Kota Medan

OpenAIRE

Stefani

2012-01-01

Autism is a developmental disorder characterized by serious impairments in social interaction and language development. In Indonesia, cases of autism are approximately 7000 cases. In Medan, estimated there are 250 kids with autism born per year and has increased dramatically in recent years. One of the factors that could cause this disorder is paternal and maternal age. The purpose of this study is to determine the relationship between paternal and maternal age with Autism in children. Th...

HHV-6A/B Integration and the Pathogenesis Associated with the Reactivation of Chromosomally Integrated HHV-6A/B.

Science.gov (United States)

Collin, Vanessa; Flamand, Louis

2017-06-26

Unlike other human herpesviruses, human herpesvirus 6A and 6B (HHV-6A/B) infection can lead to integration of the viral genome in human chromosomes. When integration occurs in germinal cells, the integrated HHV-6A/B genome can be transmitted to 50% of descendants. Such individuals, carrying one copy of the HHV-6A/B genome in every cell, are referred to as having inherited chromosomally-integrated HHV-6A/B (iciHHV-6) and represent approximately 1% of the world's population. Interestingly, HHV-6A/B integrate their genomes in a specific region of the chromosomes known as telomeres. Telomeres are located at chromosomes' ends and play essential roles in chromosomal stability and the long-term proliferative potential of cells. Considering that the integrated HHV-6A/B genome is mostly intact without any gross rearrangements or deletions, integration is likely used for viral maintenance into host cells. Knowing the roles played by telomeres in cellular homeostasis, viral integration in such structure is not likely to be without consequences. At present, the mechanisms and factors involved in HHV-6A/B integration remain poorly defined. In this review, we detail the potential biological and medical impacts of HHV-6A/B integration as well as the possible chromosomal integration and viral excision processes.

Vibrio chromosome-specific families

DEFF Research Database (Denmark)

Lukjancenko, Oksana; Ussery, David

2014-01-01

We have compared chromosome-specific genes in a set of 18 finished Vibrio genomes, and, in addition, also calculated the pan- and core-genomes from a data set of more than 250 draft Vibrio genome sequences. These genomes come from 9 known species and 2 unknown species. Within the finished...... chromosomes, we find a core set of 1269 encoded protein families for chromosome 1, and a core of 252 encoded protein families for chromosome 2. Many of these core proteins are also found in the draft genomes (although which chromosome they are located on is unknown.) Of the chromosome specific core protein...... families, 1169 and 153 are uniquely found in chromosomes 1 and 2, respectively. Gene ontology (GO) terms for each of the protein families were determined, and the different sets for each chromosome were compared. A total of 363 different "Molecular Function" GO categories were found for chromosome 1...

Paternal Involvement with Children: The Influence of Gender Ideologies

Science.gov (United States)

Bulanda, Ronald E.

2004-01-01

Although prior social science research has established the ability of gender ideologies to influence the domestic division of labor, it has neglected to disentangle their potentially unique influence on paternal involvement with children. Past research examining the influence of gender ideology on parenting behaviors does not acknowledge potential…

Consequences Paternity Leave on Allocation of Childcare and Domestic Tasks

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Esteban Torres

2015-01-01

Full Text Available One of the main objectives of parental leave policies aimed exclusively at fathers is to promote gender equality in the productive and reproductive spheres. The aim of this study is to examine whether the use of paternity leave fosters greater involvement of fathers in the division of tasks within the reproductive sphere, specifi cally child care and housework. Based on data from the survey, ?Social use of parental leave in Spain, 2012?, we have created multivariate models using ordinary least squares regression. The sample used in the analysis consists of 600 fathers who have had at least one child since 2007. The results suggest that paternity leave does encourage greater involvement by fathers in childcare, but the effect is limited, as it is only found for fathers after the birth of their fi rst child.

Age- and tactic-related paternity success in male African elephants

DEFF Research Database (Denmark)

Rasmussen, Henrik Barner; Okello, J. B. A.; Wittemyer, G.

2008-01-01

on age- and tactic-specific paternity success in male African elephants are the first from a free-ranging population and demonstrate that paternity success increases dramatically with age, with the small number of older bulls in the competitive state of musth being the most successful sires. However......, nonmusth males sired 20% of genotyped calves, and 60% of mature bulls (>20 years old) were estimated to have sired offspring during the 5-year study period. The 3 most successful males sired less than 20% of the genotyped offspring. Hence, contrary to prediction from behavior and life-history traits......, reproduction was not heavily skewed compared with many other mammalian systems with a similar breeding system. Nevertheless, these results indicate that trophy hunting and ivory poaching, both of which target older bulls, may have substantial behavioral and genetic effects on elephant populations. In addition...

Transient neonatal diabetes mellitus with macroglossia diagnosed by methylation specific PCR (MS-PCR

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Hye Young Jin

2010-03-01

Full Text Available Transient neonatal diabetes mellitus (TNDM has been associated with paternal uniparental isodisomy of chromosome 6, paternally inherited duplication of 6q24, or a methylation defect at a CpG island of the ZAC or HYMAI gene. We experienced a case of TNDM in which the patient presented with hyperglycemia, macroglossia, and intrauterine growth retardation, caused by a paternally derived HYMAI. An 18-day-old female infant was admitted to the hospital because of macroglossia and recurrent hyperglycemia. In addition to the macroglossia, she also presented with large fontanelles, micrognathia, and prominent eyes. Serum glucose levels were 200&#8211;300 mg/dL and they improved spontaneously 2 days after admission. To identify the presence of a maternal methylated allele, bisulfite-treated genomic DNA from peripheral blood was prepared and digested with BssHII after polymerase chain reaction (PCR amplification with methylation-specific HYMAI primers. PCR and restriction fragment length polymorphism analysis showed that the patient had only the paternal origin of the HYMA1 gene. TNDM is associated with a methylation defect in chromosome 6, suggesting that an imprinted gene on chromosome 6 is responsible for this phenotype.

Reduced IFN-γ and IL-10 responses to paternal antigens during and after pregnancy in allergic women.

Science.gov (United States)

Persson, Marie; Ekerfelt, Christina; Ernerudh, Jan; Matthiesen, Leif; Abelius, Martina Sandberg; Jonsson, Yvonne; Berg, Göran; Jenmalm, Maria C

2012-09-01

Normal pregnancy and allergy are both characterized by a T helper (Th) 2 deviation. In the current study, we hypothesized that paternal antigen-induced cytokine responses during pregnancy would be deviated toward Th2 and an anti-inflammatory profile, and that the Th2 deviation would be more pronounced in allergic pregnant women. Blood samples were collected longitudinally on three occasions during pregnancy and two occasions post partum (pp). Of the 86 women initially included, 54 women had a normal pregnancy and completed the sampling procedures. Twelve women fulfilled the criteria for allergy (allergic symptoms and circulating immunoglobulin [Ig] E antibodies to inhalant allergens) and 20 were non-allergic (nonsensitized without symptoms). The levels of Th1- and Th2-associated cytokines and chemokines, the Th17 cytokine IL-17 and the anti-inflammatory cytokine IL-10 of the groups were compared. Paternal antigen-induced IL-4 and IL-10 responses increased between the first and the third trimester. Allergy was associated with decreased paternal antigen-induced IFN-γ and CXCL10 secretion in the nonpregnant state (one year pp) and also decreased IFN-γ/IL-4 and IFN-γ/IL-13 ratios during pregnancy. We also observed a decreased paternal antigen-induced IL-10 response in allergic compared with non-allergic women during pregnancy, along with a decreased IL-10/IL-13 ratio. In conclusion, our findings support the hypothesis of lower Th1 responses toward paternal antigens in allergic than in non-allergic women, but also indicate that allergy is associated with a lower capacity to induce anti-inflammatory IL-10 responses after paternal antigen stimulation during pregnancy. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

Giemsa C-banding of Barley Chromosomes. IV. Chromosomal Constitution of Autotetraploid Barley

DEFF Research Database (Denmark)

Linde-Laursen, Ib

1984-01-01

The progeny of an autotetraploid barley plant (C1) consisted of 45 tetraploids and 33 aneuploids. Giemsa C-banding was used to identify each of the chromosomes in 20 euploid and 31 aneuploid C2--seedlings, and in 11 C3--offspring of aneuploid C2--plants. The euploid C2--seedlings all had four...... homologues of each of the chromosomes. The aneuploid C2--seedlings were fairly equally distributed on hypo-and hyperploids, and on the seven chromosome groups. This suggests that a particular chromosome is lost or gained at random in gametes and embryos. The 11 C3--seedlings comprised seven true euploids......, one seedling with 2n=28 having an extra chromosome 6 and missing one chromosome 3, and three seedlings with 2n=29. The chromosomal composition of aneuploid C3--seedlings did not reflect that of their aneuploid C2--parents with respect to missing or extra chromosomes. Two hypohexaploid C2--seedlings...

Negative effects of paternal age on children's neurocognitive outcomes can be explained by maternal education and number of siblings.

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Ryan D Edwards

2010-09-01

Full Text Available Recent findings suggest advanced paternal age may be associated with impaired child outcomes, in particular, neurocognitive skills. Such patterns are worrisome given relatively universal trends in advanced countries toward delayed nuptiality and fertility. But nature and nurture are both important for child outcomes, and it is important to control for both when drawing inferences about either pathway.We examined cross-sectional patterns in six developmental outcome measures among children in the U.S. Collaborative Perinatal Project (n = 31,346. Many of these outcomes at 8 mo, 4 y, and 7 y of age (Bayley scales, Stanford Binet Intelligence Scale, Graham-Ernhart Block Sort Test, Wechsler Intelligence Scale for Children, Wide Range Achievement Test are negatively correlated with paternal age when important family characteristics such as maternal education and number of siblings are not included as covariates. But controlling for family characteristics in general and mother's education in particular renders the effect of paternal age statistically insignificant for most developmental measures.Assortative mating produces interesting relationships between maternal and paternal characteristics that can inject spurious correlation into observational studies via omitted variable bias. Controlling for both nature and nurture reveals little residual evidence of a link between child neurocognitive outcomes and paternal age in these data. Results suggest that benefits associated with the upward trend in maternal education may offset any negative effects of advancing paternal age.

Genetic analysis of maternal and paternal lineages in Kabardian ...

African Journals Online (AJOL)

The high mitochondrial and also remarkable paternal diversity of the Kabardian horse is caused by its long history with a widely spread maternal origin and the introduction of Arabian as well as Thoroughbred influenced stallions for improvement. This high genetic diversity provides a good situation for the ongoing breed ...

Falling Behind? Children's Early Grade Retention after Paternal Incarceration

Science.gov (United States)

Turney, Kristin; Haskins, Anna R.

2014-01-01

A growing literature documents the myriad penalties for children of incarcerated fathers, but relatively little is known about how paternal incarceration contributes to educational outcomes in early and middle childhood. In this article, we use data from the Fragile Families and Child Wellbeing Study to provide the first estimates of the…

Igf2-H19, an imprinted tandem gene, is an important regulator of embryonic development, a guardian of proliferation of adult pluripotent stem cells, a regulator of longevity, and a ‘passkey’ to cancerogenesis

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Mariusz Z. Ratajczak

2012-07-01

Full Text Available The insulin-like growth factor-2 (Igf2-H19 locus encodes important paternally imprinted genes that govern normal embryonic development. While Igf-2 encodes IGF2, which is an autocrine/paracrine mitogen,  transcription of H19 gives rise to non-coding mRNA that is a precursor of several microRNAs (miRNAs that negatively affect cell proliferation. The proper imprinting of a differentially methylated region (DMR within this locus, with methylation of the paternal chromosome and a lack of methylation on the maternal chromosome, regulates expression of both of these genes so that Igf2 is transcribed only from the paternal chromosome and H19 only from the maternal chromosome. There is growing evidence that this ‘Yin-Yang’ locus regulates embryonic development. Furthermore, recent evidence indicates that erasure of imprinting (hypomethylation of the Igf2-H19 locus on both chromosomes, which leads to downregulation of Igf2 and upregulation of H19 expression, plays an important role in regulating quiescence of pluripotent stem cells in adult organisms, and may be involved in the regulation of lifespan. In contrast, hypermethylation of this locus on both chromosomes (loss of imprinting results in Igf2 overexpression and is observed in several malignancies. In this review, we will discuss the biological consequences of changes in Igf2-H19 expression.

Preconception paternal bisphenol A exposure induces sex-specific anxiety and depression behaviors in adult rats.

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Ying Fan

Full Text Available Bisphenol A (BPA, an environmental endocrine-disrupting compound, has drawn a great attention for its adverse effect on behavioral development. Maternal exposure to this compound has been reported to induce anxiety and depression in offspring, but the effect of its paternal exposure is rarely discussed. This study investigated whether preconception paternal BPA exposure can affect the emotions of male rats and their offspring. Eighteen adult male rats (F0 received either a vehicle or 50 μg/kg/day BPA diet for 21 weeks and were then mated with non-exposed females to produce offspring (F1. The affective behaviors of F0 and F1 rats were evaluated in the open-field test, the elevated-plus maze and the forced swimming test, and their serum corticosterone were then examined. BPA exposure induced increased anxiety behaviors along with increased serum corticosterone in F0 rats. This paternal exposure also led to increased anxiety behaviors in F1 females and aggravated depression behaviors in both sexes of F1 rats. Furthermore, only F1 females exhibited increased serum corticosterone. Overall, these data indicate that preconception paternal exposure to a low dose of BPA may induce transgenerational sex-specific impairments in the affection of adult rats.

“just hanging out with you in my back yard”: Mark Zuckerberg and Mediated Paternalism

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Little Ben

2018-01-01

Full Text Available In a video that showcases a new Facebook feature, Mark Zuckerberg chats to his users, telling them that he’s “just hanging out with you in my backyard.” In this video-which is on his Facebook page-Zuckerberg discloses the domestic space of his backyard, revealing his interaction with family and friends. Depicted hosting a barbeque while watching the electoral debate, Zuckerberg performs an affective white postfeminist paternity (Hamad, 2014 by talking about hunting, eating meat, and being a father. This video is key in explaining how Zuckerberg affectively models patriarchal power. We argue that this PR exercise (for both him and Facebook which are portrayed as inextricably linked functions to represent Facebook as enabling an empowered “community,” rather than being just an instrument of data accumulation. In particular, Zuckerberg’s affective paternalism is also a means to recoup and obfuscate patriarchal power structures. Zuckerberg’s Facebook page constructs an intimate paternalism in relation to his domestic sphere, but also to his followers, and this works to legitimate his corporate and global paternalism. The ways in which he is portrayed through signifiers of an emotional fatherhood work to gloss his power as the third richest man in the world.

Postnatal paternal involvement and maternal emotional disturbances: The effect of maternal employment status.

Science.gov (United States)

Lin, Wan-Chien; Chang, Shin-Yow; Chen, Yi-Ting; Lee, Hsin-Chien; Chen, Yi-Hua

2017-09-01

Recently, studies have begun emphasizing paternal involvement during the perinatal period and its impact on maternal health. However, most studies have assessed maternal perception and focused on adolescents or minority groups in Western countries. Therefore, the current study investigated the association between paternal involvement and maternal postnatal depression and anxiety, along with the effects of maternal job status in the Asian society of Taiwan. This study recruited pregnant women in the first trimester of pregnancy as well as their partners on prenatal visits from July 2011 to September 2013 at four selected hospitals in metropolitan areas of Taipei, Taiwan. In total, 593 parental pairs completed the first interview and responded to the follow-up questionnaires until 6 months postpartum. Self-reported data were collected, and multiple logistic regression models were used for analyses. Lower paternal childcare and nursing frequency was independently associated with an increased risk of maternal postpartum depression (adjusted odds ratio (OR) =4.33, 95% confidence interval (CI)=1.34-13.98), particularly among unemployed mothers. Furthermore, among unemployed mothers, the risk of postnatal anxiety was 3.14 times higher in couples with fathers spending less time with the child, compared with couples with fathers spending more time (95% CI=1.10-8.98). However, no significant findings were obtained for employed mothers. The high prevalence of maternal postnatal emotional disturbances warrants continual consideration. Higher paternal involvement in childcare arrangements should be emphasized to aid in ameliorating these maternal emotional disturbances, particularly among unemployed mothers. Copyright © 2017 Elsevier B.V. All rights reserved.

Multiple Mating, Paternity and Complex Fertilisation Patterns in the Chokka Squid Loligo reynaudii.

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Marie-Jose Naud

Full Text Available Polyandry is widespread and influences patterns of sexual selection, with implications for sexual conflict over mating. Assessing sperm precedence patterns is a first step towards understanding sperm competition within a female and elucidating the roles of male- and female-controlled factors. In this study behavioural field data and genetic data were combined to investigate polyandry in the chokka squid Loligo reynaudii. Microsatellite DNA-based paternity analysis revealed multiple paternity to be the norm, with 79% of broods sired by at least two males. Genetic data also determined that the male who was guarding the female at the moment of sampling was a sire in 81% of the families tested, highlighting mate guarding as a successful male tactic with postcopulatory benefits linked to sperm deposition site giving privileged access to extruded egg strings. As females lay multiple eggs in capsules (egg strings wherein their position is not altered during maturation it is possible to describe the spatial / temporal sequence of fertilisation / sperm precedence There were four different patterns of fertilisation found among the tested egg strings: 1 unique sire; 2 dominant sire, with one or more rare sires; 3 randomly mixed paternity (two or more sires; and 4 a distinct switch in paternity occurring along the egg string. The latter pattern cannot be explained by a random use of stored sperm, and suggests postcopulatory female sperm choice. Collectively the data indicate multiple levels of male- and female-controlled influences on sperm precedence, and highlights squid as interesting models to study the interplay between sexual and natural selection.

Mating success and sexual selection in a pelagic copepod, Temora longicornis: Evidence from paternity analyses

DEFF Research Database (Denmark)

Sichlau, Mie Hylstofte; Eg Nielsen, Einar; Thygesen, Uffe Høgsbro

2015-01-01

Knowledge about mating patterns is essential for understanding and explaining rates of reproduction and genetic potential of copepods populations. The aim of this study was to examine (1) the occurrence of multiple paternity in Temora longicornis, (2) the effect of multiple paternity (if present......) on the females reproductive output, and (3) whether mating is random or some individuals have a higher than average chance of fertilizing or being fertilized (super individuals). We show that multiple paternity is common in this copepod species, that females benefit from multiple matings by increased offspring...... production, and that a relatively small fraction of the males and females in a population account for most of the offspring production. In both males and females, mating is nonrandom. Superior individuals with a higher than average matings success were identified both among females and among males....

Nature v. Nurture: Children Left Fatherless and Family-Less When Nature Prevails in Paternity Actions

OpenAIRE

Niccol Kording

2004-01-01

Those words describe the feeling many parents get from parenthood and from being part of a family, regardless of whether the child is their biological offspring, stepchild, surrogate child, or adopted child. All these families and children born of biological connections or traditional families enjoy some protection under statutory or common law paternity or parentage laws. The Uniform Parentage Act and similar paternity laws protect traditional families under the marital or legitimacy presump...

Interlaboratory comparison of dicentric chromosome assay using electronically transmitted images

International Nuclear Information System (INIS)

Garcia, O.; Di Giorgio, M.; Vallerga, M. B.; Radl, A.; Taja, M. R.; Seoane, A.; De Luca, J.; Stuck Oliveira, M.; Valdivia, P.; Lamadrid, A. I.; Gonzalez, J. E.; Romero, I.; Mandina, T.; Pantelias, G.; Terzoudi, G.; Guerrero-Carbajal, C.; Arceo Maldonado, C.; Espinoza, M.; Oliveros, N.; Martinez-Lopez, W.; Di Tomaso, M. V.; Mendez-Acuna, L.; Puig, R.; Roy, L.; Barquinero, J. F.

2013-01-01

The bottleneck in data acquisition during biological dosimetry based on a dicentric assay is the need to score dicentrics in a large number of lymphocytes. One way to increase the capacity of a given laboratory is to use the ability of skilled operators from other laboratories. This can be done using image analysis systems and distributing images all around the world. Two exercises were conducted to test the efficiency of such an approach involving 10 laboratories. During the first exercise (E1), the participant laboratories analysed the same images derived from cells exposed to 0.5 and 3 Gy; 100 images were sent to all participants for both doses. Whatever the dose, only about half of the cells were complete with well-spread metaphases suitable for analysis. A coefficient of variation (CV) on the standard deviation of 15 % was obtained for both doses. The trueness was better for 3 Gy (0.6 %) than for 0.5 Gy (37.8 %). The number of estimated doses classified as satisfactory according to the z-score was 3 at 0.5 Gy and 8 at 3 Gy for 10 dose estimations. In the second exercise, an emergency situation was tested, each laboratory was required to score a different set of 50 images in 2 d extracted from 500 downloaded images derived from cells exposed to 0.5 Gy. Then the remaining 450 images had to be scored within a week. Using 50 different images, the CV on the estimated doses (79.2 %) was not as good as in E1, probably associated to a lower number of cells analysed (50 vs. 100) or from the fact that laboratories analysed a different set of images. The trueness for the dose was better after scoring 500 cells (22.5 %) than after 50 cells (26.8 %). For the 10 dose estimations, the number of doses classified as satisfactory according to the z-score was 9, for both 50 and 500 cells. Overall, the results obtained support the feasibility of networking using electronically transmitted images. However, before its implementation some issues should be elucidated, such as the

Discrimination of chromosome by autoradiography

International Nuclear Information System (INIS)

Masubuchi, Masanori

1975-01-01

This paper describes discrimination of chromosome by autoradiography. In this method, the difference in DNA synthetic phase between each chromosome was used as a standard, and the used chromosome was in metaphase, as morphological characteristics were markedly in this phase. Cell cycle and autoradiography with 3 H-thymidine were also examined. In order to discriminate chromosome by autoradiography, it was effective to utilize the labelled pattern in late DNA synthetic phase, where asynchronous replication of chromosome appeared most obviously. DNA synthesis in chromosome was examined in each DNA synthetic phase by culturing the chromosome after the treatment with 3 H-thymidine and altering the time to prepare chromosome specimen. Discrimination of chromosome in plants and animals by autoradiography was also mentioned. It was noticed as a structural and functional discrimination of chromosome to observe amino acid uptake into chromosome protein and to utilize the difference in labelled pattern between the sites of chromosome. (K. Serizawa)

The Y chromosome of the Atelidae family (Platyrrhini): study by chromosome microdissection.

Science.gov (United States)

Gifalli-Iughetti, C; Koiffmann, C P

2009-01-01

In order to study the intergeneric variability of the Y chromosome, we describe the hybridization of the Y chromosome of Brachytelesarachnoides, obtained by microdissection, to metaphases of Atelesbelzebuthmarginatus, Lagothrixlagothricha, and Alouatta male specimens. Brachytelesarachnoides (Atelinae) has 62 chromosomes and a very small Y chromosome. Our results showed that the Brachytelesarachnoides Y chromosome probe hybridized to Lagothrixlagothricha metaphases yielding one hybridization signal on only the tiny Y chromosome, and when hybridized with Atelesbelzebuthmarginatus metaphases it yielded one hybridization signal on two thirds of the small acrocentric Y chromosome. However, no hybridization signal was observed in Alouatta metaphases (subfamily Alouattinae), a closely related genus in the Atelidae family. Furthermore, our data support a close phylogenetic relationship among Brachyteles, Ateles, and Lagothrix and their placement in the Atelinae subfamily, but exclude Alouatta from this group indicating its placement as basal to this group. Copyright 2009 S. Karger AG, Basel.

Combined association of maternal and paternal family history of diabetes with plasma leptin and adiponectin in overweight Hispanic children.

Science.gov (United States)

Koebnick, C; Kelly, L A; Lane, C J; Roberts, C K; Shaibi, G Q; Toledo-Corral, C M; Davis, J N; Weigensberg, M J; Goran, M I

2008-09-01

To investigate the importance of a maternal and paternal family history of Type 2 diabetes and their combined association with plasma leptin and adiponectin levels in overweight Latino children with a family history of Type 2 diabetes (T2DM). This cross-sectional study investigated the combined association of a maternal and paternal family history of T2DM with leptin and adiponectin in 175 overweight Latino children (age 11.1 +/- 1.7 years). All subjects had a family history of T2DM. Plasma adiponectin and leptin levels, body fat measured by dual-energy X-ray absorptiometry, Tanner stage, age and insulin sensitivity were assessed. After adjustment for age, gestational diabetes, insulin sensitivity and body fat, a combined maternal and paternal family history of T2DM was associated with higher leptin concentrations (P = 0.004) compared with a maternal or paternal family history alone. This association was most pronounced at Tanner stage 1 (P for interaction family history x tanner stage = 0.022). The presence of a combined maternal and paternal family history of T2DM accounted for 4% (P = 0.003) of the variation in leptin concentrations. No such combined association was observed for adiponectin levels. Maternal and paternal family history of T2DM may have an additive impact on leptin, but not on adiponectin levels independent of adiposity and insulin sensitivity in overweight Latino children. This may contribute to a further clinically relevant deterioration of metabolic health in this population.

Racial discrepancies in the association between paternal vs. maternal educational level and risk of low birthweight in Washington State.

Science.gov (United States)

Nicolaidis, Christina; Ko, Cynthia W; Saha, Somnath; Koepsell, Thomas D

2004-06-17

BACKGROUND: The role of paternal factors in determining the risk of adverse pregnancy outcomes has received less attention than maternal factors. Similarly, the interaction between the effects of race and socioeconomic status (SES) on pregnancy outcomes is not well known. Our objective was to assess the relative importance of paternal vs. maternal education in relation to risk of low birth weight (LBW) across different racial groups. METHODS: We conducted a retrospective population-based cohort study using Washington state birth certificate data from 1992 to 1996 (n = 264,789). We assessed the associations between maternal or paternal education and LBW, adjusting for demographic variables, health services factors, and maternal behavioral and obstetrical factors. RESULTS: Paternal educational level was independently associated with LBW after adjustment for race, maternal education, demographic characteristics, health services factors; and other maternal factors. We found an interaction between the race and maternal education on risk of LBW. In whites, maternal education was independently associated with LBW. However, in the remainder of the sample, maternal education had a minimal effect on LBW. CONCLUSIONS: The degree of association between maternal education and LBW delivery was different in whites than in members of other racial groups. Paternal education was associated with LBW in both whites and non-whites. Further studies are needed to understand why maternal education may impact pregnancy outcomes differently depending on race and why paternal education may play a more important role than maternal education in some racial categories.

Racial discrepancies in the association between paternal vs. maternal educational level and risk of low birthweight in Washington State

Directory of Open Access Journals (Sweden)

Ko Cynthia W

2004-06-01

Full Text Available Abstract Background The role of paternal factors in determining the risk of adverse pregnancy outcomes has received less attention than maternal factors. Similarly, the interaction between the effects of race and socioeconomic status (SES on pregnancy outcomes is not well known. Our objective was to assess the relative importance of paternal vs. maternal education in relation to risk of low birth weight (LBW across different racial groups. Methods We conducted a retrospective population-based cohort study using Washington state birth certificate data from 1992 to 1996 (n = 264,789. We assessed the associations between maternal or paternal education and LBW, adjusting for demographic variables, health services factors, and maternal behavioral and obstetrical factors. Results Paternal educational level was independently associated with LBW after adjustment for race, maternal education, demographic characteristics, health services factors; and other maternal factors. We found an interaction between the race and maternal education on risk of LBW. In whites, maternal education was independently associated with LBW. However, in the remainder of the sample, maternal education had a minimal effect on LBW. Conclusions The degree of association between maternal education and LBW delivery was different in whites than in members of other racial groups. Paternal education was associated with LBW in both whites and non-whites. Further studies are needed to understand why maternal education may impact pregnancy outcomes differently depending on race and why paternal education may play a more important role than maternal education in some racial categories.

Human genetics: measuring the raw material of evolution.

Science.gov (United States)

Armour, John A L

2009-09-15

By direct sequencing of two Y chromosomes inherited from the same paternal ancestor, a landmark study has derived a good direct estimate for the rate of base substitution mutations on the human Y chromosome.

To eat or not to eat : egg-based assessment of paternity triggers fine-tuned decisions about filial cannibalism

NARCIS (Netherlands)

Mehlis, Marion; Bakker, Theo C. M.; Engqvist, Leif; Frommen, Joachim G.

2010-01-01

Filial cannibalism occurs in many animal species ranging from insects to mammals, and is especially well described in teleost fishes. Numerous causes may lead to this behaviour, e. g. certainty of paternity. However, the cues males use to assess their paternity often remain unknown. One possible way

Chromosomal instability can be induced by the formation of breakage-prone chromosome rearrangement junctions

International Nuclear Information System (INIS)

Allen, R.N.; Ritter, L.; Moore, S.R.; Grosovsky, A.J.

2003-01-01

Full text: Studies in our lab have led to the hypothesis that chromosomal rearrangements can generate novel breakage-prone sites, resulting in chromosomal instability acting predominantly in cis. For example, specific breakage of large blocks of centromeric region heterochromatin on chromosome 16q by treatment with 2,6-diaminopurine (DAP) is associated with repeated rearrangement of chromosome 16q during outgrowth of DAP-treated clones, thereby establishing a link between the initial site of damage and the occurrence of persistent chromosomal instability. Similarly, karyotypic analysis of gamma ray induced instability demonstrated that chromosomal rearrangements in sub-clones were significantly clustered near the site of previously identified chromosomal rearrangement junctions in unstable parental clones. This study investigates the hypothesis that integration of transfected sequences into host chromosomes could create breakage-prone junction regions and persistent genomic instability without exposure to DNA-damage agents. These junctions may mimic the unstable chromosomal rearrangements induced by DAP or radiation, and thus provide a test of the broader hypothesis that instability can to some extent be attributed to the formation of novel chromosomal breakage hot spots. These experiments were performed using human-hamster hybrid AL cells containing a single human chromosome 11, which was used to monitor instability in a chromosomal painting assay. AL cells were transfected with a 2.5 Kb fragment containing multiple copies of the 180 bp human alpha heterochromatic repeat, which resulted in chromosomal instability in 41% of the transfected clones. Parallel exposure to gamma-radiation resulted in a similar level of chromosomal instability, although control transfections with plasmid alone did not lead to karyotypic instability. Chromosomal instability induced by integration of alpha heterochromatic repeats was also frequently associated with delayed reproductive

Micromechanics of human mitotic chromosomes

International Nuclear Information System (INIS)

Sun, Mingxuan; Kawamura, Ryo; Marko, John F

2011-01-01

Eukaryote cells dramatically reorganize their long chromosomal DNAs to facilitate their physical segregation during mitosis. The internal organization of folded mitotic chromosomes remains a basic mystery of cell biology; its understanding would likely shed light on how chromosomes are separated from one another as well as into chromosome structure between cell divisions. We report biophysical experiments on single mitotic chromosomes from human cells, where we combine micromanipulation, nano-Newton-scale force measurement and biochemical treatments to study chromosome connectivity and topology. Results are in accord with previous experiments on amphibian chromosomes and support the 'chromatin network' model of mitotic chromosome structure. Prospects for studies of chromosome-organizing proteins using siRNA expression knockdowns, as well as for differential studies of chromosomes with and without mutations associated with genetic diseases, are also discussed

Father Involvement, Paternal Sensitivity, and Father-Child Attachment Security in the First Three Years

Science.gov (United States)

Brown, Geoffrey L.; Mangelsdorf, Sarah C.; Neff, Cynthia

2014-01-01

To reach a greater understanding of the early father-child attachment relationship, this study examined concurrent and longitudinal associations among father involvement, paternal sensitivity, and father-child attachment security at 13 months and 3 years of age. Analyses revealed few associations among these variables at 13 months of age, but involvement and sensitivity independently predicted father-child attachment security at age 3. Moreover, sensitivity moderated the association between involvement and attachment security at 3 years. Specifically, involvement was unrelated to attachment security when fathers were highly sensitive, but positively related to attachment security when fathers were relatively less sensitive. Father involvement was also moderately stable across the two timepoints, but paternal sensitivity was not. Furthermore, there was significant stability in father-child attachment security from 13 months to 3 years. Secure attachment at 13 months also predicted greater levels of paternal sensitivity at 3 years, with sensitivity at age 3 mediating the association between 13 month and 3 year attachment security. In sum, a secure father-child attachment relationship a) was related to both quantity and quality of fathering behavior, b) remained relatively stable across early childhood, and c) predicted increased paternal sensitivity over time. These findings further our understanding of the correlates of early father-child attachment, and underscore the need to consider multiple domains of fathers’ parenting and reciprocal relations between fathering behavior and father-child attachment security. PMID:22468691

[Fathers of first infants--preparatory courses about delivery, experience of delivery and paternity leave].

Science.gov (United States)

Aagaard, J; Dueholm, M; Nielsen, K T; Wiese, J; Strand, J E; Jangaard, J K

1989-05-22

In the Central Hospital in Randers, 233 fathers of first infants replied to a questionnaire which illustrated their attitudes to the preparatory courses about delivery, experience of delivery and attitudes to paternity leave. 65% of the fathers participated in the course and 74% stated that they considered that this had been profitable. Where 77% of the men were concerned, these considered that participation in delivery had been a positive experience. 73% of the men had planned paternity leave around the time of delivery, which emphasizes the need for this arrangement.

Detection of Hereditary 1,25-Hydroxyvitamin D-Resistant Rickets Caused by Uniparental Disomy of Chromosome 12 Using Genome-Wide Single Nucleotide Polymorphism Array.

Directory of Open Access Journals (Sweden)

Mayuko Tamura

Full Text Available Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR is an autosomal recessive disease caused by biallelic mutations in the vitamin D receptor (VDR gene. No patients have been reported with uniparental disomy (UPD.Using genome-wide single nucleotide polymorphism (SNP array to confirm whether HVDRR was caused by UPD of chromosome 12.A 2-year-old girl with alopecia and short stature and without any family history of consanguinity was diagnosed with HVDRR by typical laboratory data findings and clinical features of rickets. Sequence analysis of VDR was performed, and the origin of the homozygous mutation was investigated by target SNP sequencing, short tandem repeat analysis, and genome-wide SNP array.The patient had a homozygous p.Arg73Ter nonsense mutation. Her mother was heterozygous for the mutation, but her father was negative. We excluded gross deletion of the father's allele or paternal discordance. Genome-wide SNP array of the family (the patient and her parents showed complete maternal isodisomy of chromosome 12. She was successfully treated with high-dose oral calcium.This is the first report of HVDRR caused by UPD, and the third case of complete UPD of chromosome 12, in the published literature. Genome-wide SNP array was useful for detecting isodisomy and the parental origin of the allele. Comprehensive examination of the homozygous state is essential for accurate genetic counseling of recurrence risk and appropriate monitoring for other chromosome 12 related disorders. Furthermore, oral calcium therapy was effective as an initial treatment for rickets in this instance.

Paternalism, Public Health Ethics, and Equality

DEFF Research Database (Denmark)

Midtgaard, Søren Flinch

2015-01-01

. The consequence is deep inequalities in health. The state, to the extent it is part of its role to prevent harm and to reduce inequality, appears obliged to try to influence people’s health choices in the interest of their own health and general well-being. However, the state acting to prevent people from harming...... of the problem of paternalism than their proponents are inclined to think. More familiar measures aiming to make the health-endangering behavior more expensive and/or difficult or outright prohibiting it stand a good chance of reducing inequalities, whilst not being more controversial than nudging policies...

The linear chromosome of the plant-pathogenic mycoplasma 'Candidatus Phytoplasma mali'

Directory of Open Access Journals (Sweden)

Migdoll Alexander M

2008-06-01

Full Text Available Abstract Background Phytoplasmas are insect-transmitted, uncultivable bacterial plant pathogens that cause diseases in hundreds of economically important plants. They represent a monophyletic group within the class Mollicutes (trivial name mycoplasmas and are characterized by a small genome with a low GC content, and the lack of a firm cell wall. All mycoplasmas, including strains of 'Candidatus (Ca. Phytoplasma asteris' and 'Ca. P. australiense', examined so far have circular chromosomes, as is the case for almost all walled bacteria. Results Our work has shown that 'Ca. Phytoplasma mali', the causative agent of apple proliferation disease, has a linear chromosome. Linear chromosomes were also identified in the closely related provisional species 'Ca. P. pyri' and 'Ca. P. prunorum'. The chromosome of 'Ca. P. mali' strain AT is 601,943 bp in size and has a GC content of 21.4%. The chromosome is further characterized by large terminal inverted repeats and covalently closed hairpin ends. Analysis of the protein-coding genes revealed that glycolysis, the major energy-yielding pathway supposed for 'Ca. P. asteris', is incomplete in 'Ca. P. mali'. Due to the apparent lack of other metabolic pathways present in mycoplasmas, it is proposed that maltose and malate are utilized as carbon and energy sources. However, complete ATP-yielding pathways were not identified. 'Ca. P. mali' also differs from 'Ca. P. asteris' by a smaller genome, a lower GC content, a lower number of paralogous genes, fewer insertions of potential mobile DNA elements, and a strongly reduced number of ABC transporters for amino acids. In contrast, 'Ca. P. mali' has an extended set of genes for homologous recombination, excision repair and SOS response than 'Ca. P. asteris'. Conclusion The small linear chromosome with large terminal inverted repeats and covalently closed hairpin ends, the extremely low GC content and the limited metabolic capabilities reflect unique features of 'Ca

[Recombinant chromosome 4 with partial 4p deletion and 4q duplication inherited from paternal pericentric inversion].

Science.gov (United States)

Mun, Se Jin; Cho, Eun Hae; Chey, Myoung-Jae; Shim, Gyu-Hong; Shin, Bo-Moon; Lee, Rae-Kyung; Ko, Ji-Kyung; Yoo, Soo Jin

2010-02-01

Pericentric inversion of chromosome 4 can give rise to 2 alternate recombinant (rec) chromosomesby duplication or deletion of 4p. The deletion of distal 4p manifests as Wolf-Hirschhorn syndrome (WHS). Here, we report the molecular cytogenetic findings and clinical manifestations observed in an infant with 46,XX,rec(4)dup(4q)inv(4)(p16q31.3)pat. The infant was delivered by Cesarean section at the 33rd week of gestation because pleural effusion and polyhydramnios were detected on ultrasonography. At birth, the infant showed no malformation or dysfunction, except for a preauricular skin tag. Array comparative genomic hybridization analysis of neonatal peripheral blood samples showed a gain of 38 Mb on 4q31.3-qter and a loss of 3 Mb on 4p16.3, and these results were consistent with WHS. At the last follow-up at 8 months of age (corrected age, 6 months), the infant had not achieved complete head control.

Interphase Chromosome Profiling: A Method for Conventional Banded Chromosome Analysis Using Interphase Nuclei.

Science.gov (United States)

Babu, Ramesh; Van Dyke, Daniel L; Dev, Vaithilingam G; Koduru, Prasad; Rao, Nagesh; Mitter, Navnit S; Liu, Mingya; Fuentes, Ernesto; Fuentes, Sarah; Papa, Stephen

2018-02-01

- Chromosome analysis on bone marrow or peripheral blood samples fails in a small proportion of attempts. A method that is more reliable, with similar or better resolution, would be a welcome addition to the armamentarium of the cytogenetics laboratory. - To develop a method similar to banded metaphase chromosome analysis that relies only on interphase nuclei. - To label multiple targets in an equidistant fashion along the entire length of each chromosome, including landmark subtelomere and centromere regions. Each label so generated by using cloned bacterial artificial chromosome probes is molecularly distinct with unique spectral characteristics, so the number and position of the labels can be tracked to identify chromosome abnormalities. - Interphase chromosome profiling (ICP) demonstrated results similar to conventional chromosome analysis and fluorescence in situ hybridization in 55 previously studied cases and obtained useful ICP chromosome analysis results on another 29 cases in which conventional methods failed. - ICP is a new and powerful method to karyotype peripheral blood and bone marrow aspirate preparations without reliance on metaphase chromosome preparations. It will be of particular value for cases with a failed conventional analysis or when a fast turnaround time is required.

DNA repair decline during mouse spermiogenesis results in the accumulation of heritable DNA damage

Energy Technology Data Exchange (ETDEWEB)

Marchetti, Francesco; Marchetti, Francesco; Wryobek, Andrew J

2008-02-21

The post-meiotic phase of mouse spermatogenesis (spermiogenesis) is very sensitive to the genomic effects of environmental mutagens because as male germ cells form mature sperm they progressively lose the ability to repair DNA damage. We hypothesized that repeated exposures to mutagens during this repair-deficient phase result in the accumulation of heritable genomic damage in mouse sperm that leads to chromosomal aberrations in zygotes after fertilization. We used a combination of single or fractionated exposures to diepoxybutane (DEB), a component of tobacco smoke, to investigate how differential DNA repair efficiencies during the three weeks of spermiogenesis affected the accumulation of DEB-induced heritable damage in early spermatids (21-15 days before fertilization, dbf), late spermatids (14-8 dbf) and sperm (7- 1 dbf). Analysis of chromosomalaberrations in zygotic metaphases using PAINT/DAPI showed that late spermatids and sperm are unable to repair DEB-induced DNA damage as demonstrated by significant increases (P<0.001) in the frequencies of zygotes with chromosomal aberrations. Comparisons between single and fractionated exposures suggested that the DNA repair-deficient window during late spermiogenesis may be less than two weeks in the mouse and that during this repair-deficient window there is accumulation of DNA damage in sperm. Finally, the dose-response study in sperm indicated a linear response for both single and repeated exposures. These findings show that the differential DNA repair capacity of post-meioitic male germ cells has a major impact on the risk of paternally transmitted heritable damage and suggest that chronic exposures that may occur in the weeks prior to fertilization because of occupational or lifestyle factors (i.e, smoking) can lead to an accumulation of genetic damage in sperm and result in heritable chromosomal aberrations of paternal origin.

Personal and couple level risk factors: Maternal and paternal parent-child aggression risk.

Science.gov (United States)

Tucker, Meagan C; Rodriguez, Christina M; Baker, Levi R

2017-07-01

Previous literature examining parent-child aggression (PCA) risk has relied heavily upon mothers, limiting our understanding of paternal risk factors. Moreover, the extent to which factors in the couple relationship work in tandem with personal vulnerabilities to impact PCA risk is unclear. The current study examined whether personal stress and distress predicted PCA risk (child abuse potential, over-reactive discipline style, harsh discipline practices) for fathers as well as mothers and whether couple functioning mediated versus moderated the relation between personal stress and PCA risk in a sample of 81 couples. Additionally, the potential for risk factors in one partner to cross over and affect their partner's PCA risk was considered. Findings indicated higher personal stress predicted elevated maternal and paternal PCA risk. Better couple functioning did not moderate this relationship but partially mediated stress and PCA risk for both mothers and fathers. In addition, maternal stress evidenced a cross-over effect, wherein mothers' personal stress linked to fathers' couple functioning. Findings support the role of stress and couple functioning in maternal and paternal PCA risk, including potential cross-over effects that warrant further inquiry. Copyright © 2017 Elsevier Ltd. All rights reserved.

Chromosomal divergence and evolutionary inferences in Rhodniini based on the chromosomal location of ribosomal genes

Directory of Open Access Journals (Sweden)

Sebastian Pita

2013-05-01

Full Text Available In this study, we used fluorescence in situ hybridisation to determine the chromosomal location of 45S rDNA clusters in 10 species of the tribe Rhodniini (Hemiptera: Reduviidae: Triatominae. The results showed striking inter and intraspecific variability, with the location of the rDNA clusters restricted to sex chromosomes with two patterns: either on one (X chromosome or both sex chromosomes (X and Y chromosomes. This variation occurs within a genus that has an unchanging diploid chromosome number (2n = 22, including 20 autosomes and 2 sex chromosomes and a similar chromosome size and genomic DNA content, reflecting a genome dynamic not revealed by these chromosome traits. The rDNA variation in closely related species and the intraspecific polymorphism in Rhodnius ecuadoriensis suggested that the chromosomal position of rDNA clusters might be a useful marker to identify recently diverged species or populations. We discuss the ancestral position of ribosomal genes in the tribe Rhodniini and the possible mechanisms involved in the variation of the rDNA clusters, including the loss of rDNA loci on the Y chromosome, transposition and ectopic pairing. The last two processes involve chromosomal exchanges between both sex chromosomes, in contrast to the widely accepted idea that the achiasmatic sex chromosomes of Heteroptera do not interchange sequences.

Paternal overprotection in obsessive-compulsive disorder and depression with obsessive traits.

Science.gov (United States)

Yoshida, Takafumi; Taga, Chiaki; Matsumoto, Yoshitake; Fukui, Kenji

2005-10-01

Previous studies have indicated that a parental rearing style showing a low level of care on the parental bonding instrument (PBI) is a risk factor for depression, and that there is a relationship between the overprotective rearing style on the PBI and obsessive-compulsive disorder (OCD). However, there is no study on the parental rearing attitudes in depressive patients divided into two groups based on their obsessive traits. In this study, we evaluated the parental rearing attitudes and examined the differences among four groups: depressive patients with severe obsessive traits, depressive patients with mild obsessive traits, OCD patients, and healthy volunteers. We divided the depressive patients into severe and mild groups based on their obsessive traits on the Mausdley Obsessional-Compulsive Inventory (MOCI). We compared PBI scores among four groups of 50 subjects matched for age and sex: depressive patients with severe obsessive traits, depressive patients with mild obsessive traits, OCD patients, and healthy volunteers. The paternal protection scores in the depressive patients with severely obsessive traits and the OCD patients were significantly higher than those in the depressive patients with mildly obsessive traits and healthy volunteers. This study indicated that the depressive patients with severe obsessive traits and the OCD patients have similar paternal controlling and interfering rearing attitudes. We conclude that the paternal controlling and interfering rearing attitudes are linked to the development of OCD and depression with obsessive traits, and are not linked to the development of depression itself.

Telomere dysfunction and chromosome instability

Energy Technology Data Exchange (ETDEWEB)

Murnane, John P., E-mail: jmurnane@radonc.ucsf.edu [Department of Radiation Oncology, University of California San Francisco, 2340 Sutter Street, San Francisco, CA 94143-1331 (United States)

2012-02-01

The ends of chromosomes are composed of a short repeat sequence and associated proteins that together form a cap, called a telomere, that keeps the ends from appearing as double-strand breaks (DSBs) and prevents chromosome fusion. The loss of telomeric repeat sequences or deficiencies in telomeric proteins can result in chromosome fusion and lead to chromosome instability. The similarity between chromosome rearrangements resulting from telomere loss and those found in cancer cells implicates telomere loss as an important mechanism for the chromosome instability contributing to human cancer. Telomere loss in cancer cells can occur through gradual shortening due to insufficient telomerase, the protein that maintains telomeres. However, cancer cells often have a high rate of spontaneous telomere loss despite the expression of telomerase, which has been proposed to result from a combination of oncogene-mediated replication stress and a deficiency in DSB repair in telomeric regions. Chromosome fusion in mammalian cells primarily involves nonhomologous end joining (NHEJ), which is the major form of DSB repair. Chromosome fusion initiates chromosome instability involving breakage-fusion-bridge (B/F/B) cycles, in which dicentric chromosomes form bridges and break as the cell attempts to divide, repeating the process in subsequent cell cycles. Fusion between sister chromatids results in large inverted repeats on the end of the chromosome, which amplify further following additional B/F/B cycles. B/F/B cycles continue until the chromosome acquires a new telomere, most often by translocation of the end of another chromosome. The instability is not confined to a chromosome that loses its telomere, because the instability is transferred to the chromosome donating a translocation. Moreover, the amplified regions are unstable and form extrachromosomal DNA that can reintegrate at new locations. Knowledge concerning the factors promoting telomere loss and its consequences is

Maternal and paternal genomes differentially affect myofibre characteristics and muscle weights of bovine fetuses at midgestation.

Science.gov (United States)

Xiang, Ruidong; Ghanipoor-Samami, Mani; Johns, William H; Eindorf, Tanja; Rutley, David L; Kruk, Zbigniew A; Fitzsimmons, Carolyn J; Thomsen, Dana A; Roberts, Claire T; Burns, Brian M; Anderson, Gail I; Greenwood, Paul L; Hiendleder, Stefan

2013-01-01

Postnatal myofibre characteristics and muscle mass are largely determined during fetal development and may be significantly affected by epigenetic parent-of-origin effects. However, data on such effects in prenatal muscle development that could help understand unexplained variation in postnatal muscle traits are lacking. In a bovine model we studied effects of distinct maternal and paternal genomes, fetal sex, and non-genetic maternal effects on fetal myofibre characteristics and muscle mass. Data from 73 fetuses (Day153, 54% term) of four genetic groups with purebred and reciprocal cross Angus and Brahman genetics were analyzed using general linear models. Parental genomes explained the greatest proportion of variation in myofibre size of Musculus semitendinosus (80-96%) and in absolute and relative weights of M. supraspinatus, M. longissimus dorsi, M. quadriceps femoris and M. semimembranosus (82-89% and 56-93%, respectively). Paternal genome in interaction with maternal genome (Pmaternal genome alone explained most genetic variation in CSA of fast myofibres (93%, Pmaternal genome independently (M. semimembranosus, 88%, Pmaternal weight effect (5-6%, Ppaternal genome on muscle mass decreased from thoracic to pelvic limb and accounted for all (M. supraspinatus, 97%, Pinteraction between maternal and paternal genomes (Pmaternal weight (Pmaternal and paternal genomes on fetal muscle.

Fetal chromosome analysis

DEFF Research Database (Denmark)

Philip, J; Tabor, A; Bang, J

1983-01-01

The aim of the study was to investigate the rationale of the current indications for fetal chromosome analysis. 5372 women had 5423 amniocentesis performed, this group constituting a consecutive sample at the chromosome laboratory, Rigshospitalet, Copenhagen from March 1973 to September 1980 (Group...... A + B). Pregnant women 35 years of age, women who previously had a chromosomally abnormal child, families with translocation carriers or other heritable chromosomal disease, families where the father was 50 years or more and women in families with a history of Down's syndrome (group A), were compared...... to women having amniocentesis, although considered not to have any increased risk of fetal chromosome abnormality (1390 pregnancies, group B). They were also compared with 750 consecutive pregnancies in women 25-34 years of age, in whom all heritable diseases were excluded (group C). The risk of unbalanced...

Microdissection and chromosome painting of the alien chromosome in an addition line of wheat-Thinopyrum intermedium

Science.gov (United States)

The chromosome painting is an efficient tool for chromosome research. However, plant chromosome painting is relatively underdeveloped. In this study, chromosome painting was developed and used to identify alien chromosomes in TAi-27, a wheat-Thinopyrum intermedium addition line, and chromosomes of...

Microdissection and chromosome painting of the alien chromosome in an addition line of wheat--Thinopyrum intermedium.

Science.gov (United States)

Deng, Chuanliang; Bai, Lili; Fu, Shulan; Yin, Weibo; Zhang, Yingxin; Chen, Yuhong; Wang, Richard R-C; Zhang, Xiangqi; Han, Fangpu; Hu, Zanmin

2013-01-01

In this study, chromosome painting was developed and used to identify alien chromosomes in TAi-27, a wheat--Thinopyrum intermedium addition line, and the chromosomes of the three different genomes of Th. Intermedium. The smallest alien chromosome of TAi-27 was microdissected and its DNA amplified by DOP-PCR was used as a probe to hybridize with metaphase chromosomes of TAi-27 and Th. intermedium. Results showed that hybridization signals were observed in all regions of a pair of the smallest alien chromosomes and the pericentromeric area of another pair of alien chromosomes in TAi-27, indicating that the probe from microdissected chromosome is species specific. In Th. intermedium, 14 chromosomes had wide and strong hybridization signals distributed mainly on the pericentromere area and 9 chromosomes with narrow and weak signals on the pericentromere area. The remaining chromosomes displayed a very weak or no signal. Sequential FISH/GISH on Th. intermedium chromosomes using the DNAs of microdissected chromosome, Pseudoroegneria spicata (St genome) and pDbH12 (a J(s) genome specific probe) as the probes indicated that the microdissected chromosome belonged to the St genome, three genomes (J(s) , J and St) in Th. intermedium could be distinguished, in which there is no hybridization signal on J genome that is similar to the genome of Th. bessarabicum. Our results showed that the smallest alien chromosomes may represent a truncated chromosome and the repetitive sequence distribution might be similar in different chromosomes within the St genome. However, the repetitive sequence distributions are different within the J(s) genome, within a single chromosome, and among different genomes in Th. intermedium. Our results suggested that chromosome painting could be feasible in some plants and useful in detecting chromosome variation and repetitive sequence distribution in different genomes of polyploidy plants, which is helpful for understanding the evolution of different

Microdissection and Chromosome Painting of the Alien Chromosome in an Addition Line of Wheat - Thinopyrum intermedium

Science.gov (United States)

Yin, Weibo; Zhang, Yingxin; Chen, Yuhong; Wang, Richard R.-C.; Zhang, Xiangqi; Han, Fangpu; Hu, Zanmin

2013-01-01

In this study, chromosome painting was developed and used to identify alien chromosomes in TAi-27, a wheat - Thinopyrum intermedium addition line, and the chromosomes of the three different genomes of Th. Intermedium. The smallest alien chromosome of TAi-27 was microdissected and its DNA amplified by DOP-PCR was used as a probe to hybridize with metaphase chromosomes of TAi-27 and Th . intermedium . Results showed that hybridization signals were observed in all regions of a pair of the smallest alien chromosomes and the pericentromeric area of another pair of alien chromosomes in TAi-27, indicating that the probe from microdissected chromosome is species specific. In Th . intermedium , 14 chromosomes had wide and strong hybridization signals distributed mainly on the pericentromere area and 9 chromosomes with narrow and weak signals on the pericentromere area. The remaining chromosomes displayed a very weak or no signal. Sequential FISH/GISH on Th . intermedium chromosomes using the DNAs of microdissected chromosome, Pseudoroegneria spicata (St genome) and pDbH12 (a Js genome specific probe) as the probes indicated that the microdissected chromosome belonged to the St genome, three genomes (Js, J and St) in Th . intermedium could be distinguished, in which there is no hybridization signal on J genome that is similar to the genome of Th . bessarabicum . Our results showed that the smallest alien chromosomes may represent a truncated chromosome and the repetitive sequence distribution might be similar in different chromosomes within the St genome. However, the repetitive sequence distributions are different within the Js genome, within a single chromosome, and among different genomes in Th . intermedium . Our results suggested that chromosome painting could be feasible in some plants and useful in detecting chromosome variation and repetitive sequence distribution in different genomes of polyploidy plants, which is helpful for understanding the evolution of different

Linking the sub-Saharan and West Eurasian gene pools: maternal and paternal heritage of the Tuareg nomads from the African Sahel.

Science.gov (United States)

Pereira, Luísa; Cerný, Viktor; Cerezo, María; Silva, Nuno M; Hájek, Martin; Vasíková, Alzbeta; Kujanová, Martina; Brdicka, Radim; Salas, Antonio

2010-08-01

The Tuareg presently live in the Sahara and the Sahel. Their ancestors are commonly believed to be the Garamantes of the Libyan Fezzan, ever since it was suggested by authors of antiquity. Biological evidence, based on classical genetic markers, however, indicates kinship with the Beja of Eastern Sudan. Our study of mitochondrial DNA (mtDNA) sequences and Y chromosome SNPs of three different southern Tuareg groups from Mali, Burkina Faso and the Republic of Niger reveals a West Eurasian-North African composition of their gene pool. The data show that certain genetic lineages could not have been introduced into this population earlier than approximately 9000 years ago whereas local expansions establish a minimal date at around 3000 years ago. Some of the mtDNA haplogroups observed in the Tuareg population were involved in the post-Last Glacial Maximum human expansion from Iberian refugia towards both Europe and North Africa. Interestingly, no Near Eastern mtDNA lineages connected with the Neolithic expansion have been observed in our population sample. On the other hand, the Y chromosome SNPs data show that the paternal lineages can very probably be traced to the Near Eastern Neolithic demic expansion towards North Africa, a period that is otherwise concordant with the above-mentioned mtDNA expansion. The time frame for the migration of the Tuareg towards the African Sahel belt overlaps that of early Holocene climatic changes across the Sahara (from the optimal greening approximately 10 000 YBP to the extant aridity beginning at approximately 6000 YBP) and the migrations of other African nomadic peoples in the area.

Does paternity leave affect mothers’ sickness absence

OpenAIRE

Bratberg, Espen; Naz, Ghazala

2009-01-01

Female labour force participation is high in Norway but sickness absence rates are higher for women than for men. This may be partly a result of unequal sharing of childcare in the family. In this paper, we consider the effect of paternity leave on sickness absence among women who have recently given birth. We draw on a six-year panel taken from full population data from administrative sources. We find that in the 6% of families where fathers take out leave more than the standard quota (gende...

Those They Leave behind: Paternal Incarceration and Maternal Instrumental Support

Science.gov (United States)

Turney, Kristin; Schnittker, Jason; Wildeman, Christopher

2012-01-01

As the American imprisonment rate has risen, researchers have become increasingly concerned about the implications of mass imprisonment for family life. The authors extend this research by examining how paternal incarceration is linked to perceived instrumental support among the mothers of inmates' children. Results from the Fragile Families and…

The association of parental education with childhood undernutrition in low- and middle-income countries: comparing the role of paternal and maternal education.

Science.gov (United States)

Vollmer, Sebastian; Bommer, Christian; Krishna, Aditi; Harttgen, Kenneth; Subramanian, S V

2017-02-01

Most existing research on the association of parental education with childhood undernutrition focuses on maternal education and often ignores paternal education. We systematically investigate differences in maternal and paternal education and their association with childhood undernutrition. One hundred and eighty Demographic and Health Surveys from 62 countries performed between 1990 and 2014 were analysed. We used linear-probability models to predict childhood undernutrition prevalences, measured as stunting, underweight and wasting, for all combinations of maternal and paternal attainment in school. Models were adjusted for demographic and socio-economic covariates for the child, mother and household, country-level fixed effects and clustering. Additional specifications adjust for local area characteristics instead of country fixed effects. Both higher maternal and paternal education levels are associated with lower childhood undernutrition. In regressions adjusted for child age and sex as well as country-level fixed effects, the association is stronger for maternal education than for paternal education when their combined level of education is held constant. In the fully adjusted models, the observed differences in predicted undernutrition prevalences are strongly attenuated, suggesting a similar importance of maternal and paternal education. These findings are confirmed by the analysis of composite schooling indicators. We find that paternal education is similarly important for reducing childhood undernutrition as maternal education and should therefore receive increased attention in the literature. © The Author 2016; all rights reserved. Published by Oxford University Press on behalf of the International Epidemiological Association

Designing of plant artificial chromosome (PAC) by using the Chlorella smallest chromosome as a model system.

Science.gov (United States)

Noutoshi, Y; Arai, R; Fujie, M; Yamada, T

1997-01-01

As a model for plant-type chromosomes, we have been characterizing molecular organization of the Chlorella vulgaris C-169 chromosome I. To identify chromosome structural elements including the centromeric region and replication origins, we constructed a chromosome I specific cosmid library and aligned each cosmid clones to generate contigs. So far, more than 80% of the entire chromosome I has been covered. A complete clonal physical reconstitution of chromosome I provides information on the structure and genomic organization of plant genome. We propose our strategy to construct an artificial chromosome by assembling the functional chromosome structural elements identified on Chrorella chromosome I.

Will male advertisement be a reliable indicator of paternal care, if offspring survival depends on male care?

Science.gov (United States)

Kelly, Natasha B; Alonzo, Suzanne H

2009-09-07

Existing theory predicts that male signalling can be an unreliable indicator of paternal care, but assumes that males with high levels of mating success can have high current reproductive success, without providing any parental care. As a result, this theory does not hold for the many species where offspring survival depends on male parental care. We modelled male allocation of resources between advertisement and care for species with male care where males vary in quality, and the effect of care and advertisement on male fitness is multiplicative rather than additive. Our model predicts that males will allocate proportionally more of their resources to whichever trait (advertisement or paternal care) is more fitness limiting. In contrast to previous theory, we find that male advertisement is always a reliable indicator of paternal care and male phenotypic quality (e.g. males with higher levels of advertisement never allocate less to care than males with lower levels of advertisement). Our model shows that the predicted pattern of male allocation and the reliability of male signalling depend very strongly on whether paternal care is assumed to be necessary for offspring survival and how male care affects offspring survival and male fitness.

Paternal Pregnancy Intention and Breastfeeding Duration: Findings from the National Survey of Family Growth.

Science.gov (United States)

Wallenborn, Jordyn T; Masho, Saba W; Ratliff, Scott

2017-03-01

Objectives Despite the benefits of breastfeeding, less than a fifth of American mothers breastfeed for the recommended duration. Paternal support plays a major role in maternal and child health outcomes; however, the influence of paternal pregnancy intention on breastfeeding duration is under investigated. This study examines the relationship between fathers' pregnancy intention and breastfeeding duration. Methods Data from the 2011-2013 National Survey of Family Growth were analyzed using cross-sectional methodology. Women who were pregnant, never received medical help to become pregnant, whose partner was aged 18-49 years, and who responded to questions related to paternal pregnancy intention and breastfeeding were included in the analysis (N = 2089). Multinomial logistic regression, odds ratios and 95 % confidence intervals were calculated. There was a statistically significant interaction between father's age and father's pregnancy intention (P = 0.0385) and all models were stratified by paternal age. Results Fathers aged 18-24 years with a mistimed pregnancy were 2.3 times more likely to have a child who was never breastfed, (AOR 2.27, 95 % CI 1.39-3.70) and 1.7 times more likely to have a child who was breastfed 6 months or less (AOR 1.69, 95 % CI 1.28-2.23) compared to fathers with an intended pregnancy. No statistically significant association was observed among fathers aged 25-49 years. Conclusion Findings from this study show a relationship between mistimed pregnancies and breastfeeding duration among younger fathers. Healthcare professionals should develop breastfeeding interventions targeting fathers and young families.

Sex-chromosome anaphase movements in crane-fly spermatocytes are coordinated: ultraviolet microbeam irradiation of one kinetochore of one sex chromosome blocks the movements of both sex chromosomes

International Nuclear Information System (INIS)

Swedak, J.A.M.; Forer, A.

1987-01-01

Sex chromosomes in crane-fly spermatocytes move polewards at anaphase after the autosomes have reached the poles. We irradiated one kinetochore of one sex chromosome using an ultraviolet microbeam. When both sex chromosomes were normally oriented, irradiation of a single kinetochore permanently blocked movement of both sex chromosomes. Irradiation of non-kinetochore chromosomal regions or of spindle fibres did not block movement, or blocked movement only temporarily. We argue that ultraviolet irradiation of one kinetochore blocks movement of both sex chromosomes because of effects on a 'signal' system. Irradiation of one kinetochore of a maloriented sex chromosome did not block motion of either sex chromosome. However, irradiation of one kinetochore of a normally oriented sex chromosome permanently blocked motion of both that sex chromosome and the maloriented sex chromosome. Thus for the signal system to allow the sex chromosomes to move to the pole each sex chromosome must have one spindle fibre to each pole. (author)

Modeling Chromosomes

Science.gov (United States)

Robertson, Carol

2016-01-01

Learning about chromosomes is standard fare in biology classrooms today. However, students may find it difficult to understand the relationships among the "genome", "chromosomes", "genes", a "gene locus", and "alleles". In the simple activity described in this article, which follows the 5E approach…

Chromosomal Conditions

Science.gov (United States)

... and more. Stony Point, NY 10980 Close X Home > Complications & Loss > Birth defects & other health conditions > Chromosomal conditions Chromosomal conditions ... Disorders See also: Genetic counseling , Your family health history Last reviewed: February, 2013 ... labor & premature birth The newborn intensive care unit (NICU) Birth defects & ...

Electochemical detection of chromosome translocation

DEFF Research Database (Denmark)

Kwasny, Dorota; Dimaki, Maria; Silahtaroglu, Asli

2014-01-01

Cytogenetics is a study of the cell structure with a main focus on chromosomes content and their structure. Chromosome abnormalities, such as translocations may cause various genetic disorders and heametological malignancies. Chromosome translocations are structural rearrangements of two...... chromosomes that results in formation of derivative chromosomes with a mixed DNA sequence. The method currently used for their detection is Fluorescent In Situ Hybridization, which requires a use of expensive, fluorescently labeled probes that target the derivative chromosomes. We present here a double...... hybridization approach developed for label-free detection of the chromosome translocations. For specific translocation detection it is necessary to determine that the two DNA sequences forming a derivative chromosome are connected, which is achieved by two subsequent hybridization steps. The electrochemical...

Paid maternity and paternity leave: rights and choices.

Science.gov (United States)

Jordan, Claire

2007-01-01

From April 2007 onwards, maternity leave will be raised to nine months Paid maternity leave is associated with significant health benefits for babies, including reduced infant mortality The Government proposes to increase paid maternity leave to one year and introduce additional paternity leave by around 2009 The U.K's provision for maternity leave and child care is more generous than the U.S.A. or Australia but less than in the Scandinavian countries

A New "Shield of the Weak": Continued Paternalism of Domestic Violence Services in Uruguay.

Science.gov (United States)

Bloom, Allison

2018-03-01

Drawing on ethnographic and historical research, this article illuminates the limitations of the Uruguayan domestic violence services system. In spite of how advocates in Uruguay successfully used a human rights platform to secure legislation and services, this system now faces significant critique. Using Iris Marion Young's work on the "logic of masculinist protection" and historical parallels in Uruguay's welfare system, I discuss how a paternalistic approach may be to blame. I highlight how this paternalism contributes to the paternalism that problematically underlies gendered violence-reinforcing rather than addressing oppressive ideologies and structures that impede improving conditions for women.

Early maternal and paternal bonding, childhood physical abuse and adult psychopathic personality

Science.gov (United States)

Gao, Y.; Raine, A.; Chan, F.; Venables, P. H.; Mednick, S. A.

2013-01-01

Background A significant gap in the literature on risk factors for psychopathy is the relative lack of research on parental bonding. Method This study examines the cross-sectional relationship between maternal and paternal bonding, childhood physical abuse and psychopathic personality at age 28 years in a community sample of 333 males and females. It also assesses prospectively whether children separated from their parents in the first 3 years of life are more likely to have a psychopathic-like personality 25 years later. Results Hierarchical regression analyses indicated that: (1) poor parental bonding (lack of maternal care and low paternal overprotection) and childhood physical abuse were both associated with a psychopathic personality; (2) parental bonding was significantly associated with psychopathic personality after taking into account sex, social adversity, ethnicity and abuse; (3) those separated from parents in the first 3 years of life were particularly characterized by low parental bonding and a psychopathic personality in adulthood; and (4) the deviant behavior factor of psychopathy was more related to lack of maternal care whereas the emotional detachment factor was related to both lack of maternal care and paternal overprotection. Conclusions Findings draw attention to the importance of different components of early bonding in relation to adult psychopathy, and may have potential implications for early intervention and prevention of psychopathy. PMID:20441692

Microdissection and chromosome painting of the alien chromosome in an addition line of wheat--Thinopyrum intermedium.

Directory of Open Access Journals (Sweden)

Chuanliang Deng

Full Text Available In this study, chromosome painting was developed and used to identify alien chromosomes in TAi-27, a wheat--Thinopyrum intermedium addition line, and the chromosomes of the three different genomes of Th. Intermedium. The smallest alien chromosome of TAi-27 was microdissected and its DNA amplified by DOP-PCR was used as a probe to hybridize with metaphase chromosomes of TAi-27 and Th. intermedium. Results showed that hybridization signals were observed in all regions of a pair of the smallest alien chromosomes and the pericentromeric area of another pair of alien chromosomes in TAi-27, indicating that the probe from microdissected chromosome is species specific. In Th. intermedium, 14 chromosomes had wide and strong hybridization signals distributed mainly on the pericentromere area and 9 chromosomes with narrow and weak signals on the pericentromere area. The remaining chromosomes displayed a very weak or no signal. Sequential FISH/GISH on Th. intermedium chromosomes using the DNAs of microdissected chromosome, Pseudoroegneria spicata (St genome and pDbH12 (a J(s genome specific probe as the probes indicated that the microdissected chromosome belonged to the St genome, three genomes (J(s , J and St in Th. intermedium could be distinguished, in which there is no hybridization signal on J genome that is similar to the genome of Th. bessarabicum. Our results showed that the smallest alien chromosomes may represent a truncated chromosome and the repetitive sequence distribution might be similar in different chromosomes within the St genome. However, the repetitive sequence distributions are different within the J(s genome, within a single chromosome, and among different genomes in Th. intermedium. Our results suggested that chromosome painting could be feasible in some plants and useful in detecting chromosome variation and repetitive sequence distribution in different genomes of polyploidy plants, which is helpful for understanding the evolution of

Prader-willi syndrome: A case report and a Chinese literature review.

Science.gov (United States)

Zhu, Junzhen; Cao, Qinying; Zhang, Ning; Zhao, Lijuan

2013-11-01

Prader-Willi syndrome (PWS) is a genetic disorder, resulting from lack of gene expression on the paternally inherited chromosome 15. It is important to determine diagnostic methods for PWS for early treatment. In this study, we report a newborn with Prader-willi syndrome. We further summarized the genetic testing results in the Chinese literature and the relevance of high resolution chromosome and genome-wide copy number variation analysis. There is a heterozygosis deletion of a 5 Mb region in the paternal chromosome 15q11.3-q13.3 by genome-wide copy number variation analysis. However, there is no abnormality in high resolution chromosome karyotype analysis. In conclusion, genome-wide copy number variation analysis is an effective and specific diagnosis method, which will provide scientific evidence for the clinical diagnosis and early treatment of PWS.

“Nudge” in the clinical consultation – an acceptable form of medical paternalism?

Science.gov (United States)

2014-01-01

Background Libertarian paternalism is a concept derived from cognitive psychology and behavioural science. It is behind policies that frame information in such a way as to encourage individuals to make choices which are in their best interests, while maintaining their freedom of choice. Clinicians may view their clinical consultations as far removed from the realms of cognitive psychology but on closer examination there are a number of striking similarities. Discussion Evidence has shown that decision making is prone to bias and not necessarily rational or logical, particularly during ill health. Clinicians will usually have an opinion about what course of action represents the patient’s best interests and thus may “frame” information in a way which “nudges” patients into making choices which are considered likely to maximise their welfare. This may be viewed as interfering with patient autonomy and constitute medical paternalism and appear in direct opposition to the tenets of modern practice. However, we argue that clinicians have a responsibility to try and correct “reasoning failure” in patients. Some compromise between patient autonomy and medical paternalism is justified on these grounds and transparency of how these techniques may be used should be promoted. Summary Overall the extremes of autonomy and paternalism are not compatible in a responsive, responsible and moral health care environment, and thus some compromise of these values is unavoidable. Nudge techniques are widely used in policy making and we demonstrate how they can be applied in shared medical decision making. Whether or not this is ethically sound is a matter of continued debate but health care professionals cannot avoid the fact they are likely to be using nudge within clinical consultations. Acknowledgment of this will lead to greater self-awareness, reflection and provide further avenues for debate on the art and science of clinical communication. PMID:24742113

A Comparison of Perceived and Measured Paternal Weight and BMI, and Relationship to Weight and BMI of his Children

LENUS (Irish Health Repository)

Power, RF

2018-02-01

Nineteen percent of 9 years old Irish children are overweight; seven percent are obese. Our aims were: to examine whether differences exist between paternal self-reported and measured height, weight and BMI in a population representative sample; and to explore paternal perceptions of their own weight status.\\r\

Pure chromosome-specific PCR libraries from single sorted chromosomes

NARCIS (Netherlands)

VanDevanter, D. R.; Choongkittaworn, N. M.; Dyer, K. A.; Aten, J. A.; Otto, P.; Behler, C.; Bryant, E. M.; Rabinovitch, P. S.

1994-01-01

Chromosome-specific DNA libraries can be very useful in molecular and cytogenetic genome mapping studies. We have developed a rapid and simple method for the generation of chromosome-specific DNA sequences that relies on polymerase chain reaction (PCR) amplification of a single flow-sorted

No significant effect of monosomy for distal 21q22. 3 on the Down syndrom phenotype in mirror' duplications of chromosome 21

Energy Technology Data Exchange (ETDEWEB)

Pangalos, C.; Prieur, M.; Rethore, M.O.; Lejeune, J. (Institut de Progenese, Paris (France)); Theophile, D.; Sinet, P.M.; Chettouh, Z.; Delabar, J.M. (Hopital Necker Enfants Malades, Paris (France)); Marks, A. (Univ. of Toronto, Ontario (Canada)); Stamboulieh-Abazis, D. (Diagnostic Genetic Center, Athens (Greece)); Verellen, C. (Centre de Genetique Humaine, Brussels (Belgium))

1992-12-01

Three Down syndrome patients for whom karyotypic analysis showed a mirror' (reverse tandem) duplication of chromosome 21 were studied by phenotypic, cytogenetic, and molecular methods. On high-resolution R-banding analysis performed in two cases, the size of the fusion 21q22.3 band was apparently less than twice the size of the normal 21q22.3, suggesting a partial deletion of distal 21q. The evaluation of eight chromosome 21 single-copy sequences of the 21q22 region - namely, SOD1, D21S15, D21S42, CRYA1, PFKL, CD18, COL6A1, and S100B - by a slot blot method showed in all three cases a partial deletion of 21q22.3 and partial monosomy. The translocation breakpoints were different in each patient, and in two cases the rearranged chromosome was found to be asymmetrical. The molecular definition of the monosomy 21 in each patient was, respectively, COL6A1-S100B, CD18-S100B, and PFKL-S100B. DNA polymorphism analysis indicated in all cases a homozygosity of the duplicated material. The duplicated region was maternal in two patients and paternal in one patient. These data suggest that the reverse tandem chromosomes did not result from a telomeric fusion between chromosomes 21 but from a translocation between sister chromatids. The phenotypes of these patients did not differ significantly from that of individuals with full trisomy 21, except in one case with large ears with an unfolded helix. The fact that monosomy of distal 21q22.3 in these patients resulted in a phenotype very similar to Down syndrome suggests that the duplication of the genes located in this part of chromosome 21 is not necessary for the pathogenesis of the Down syndrome features observed in these patients, including most of the facial and hand features, muscular hypotonia, cardiopathy of the Fallot tetralogy type, and part of the mental retardation. 54 refs., 5 figs., 3 tabs.

Chromosomal homologies among vampire bats revealed by chromosome painting (phyllostomidae, chiroptera).

Science.gov (United States)

Sotero-Caio, C G; Pieczarka, J C; Nagamachi, C Y; Gomes, A J B; Lira, T C; O'Brien, P C M; Ferguson-Smith, M A; Souza, M J; Santos, N

2011-01-01

Substantial effort has been made to elucidate karyotypic evolution of phyllostomid bats, mostly through comparisons of G-banding patterns. However, due to the limited number of G-bands in respective karyotypes and to the similarity of non-homologous bands, an accurate evolutionary history of chromosome segments remains questionable. This is the case for vampire bats (Desmodontinae). Despite several proposed homologies, banding data have not yet provided a detailed understanding of the chromosomal changes within vampire genera. We examined karyotype differentiation of the 3 species within this subfamily using whole chromosomal probes from Phyllostomus hastatus (Phyllostominae) and Carollia brevicauda (Carolliinae). Painting probes of P. hastatus respectively detected 22, 21 and 23 conserved segments in Diphylla ecaudata, Diaemus youngi, and Desmodus rotundus karyotypes, whereas 27, 27 and 28 were respectively detectedwith C. brevicauda paints. Based on the evolutionary relationships proposed by morphological and molecular data, we present probable chromosomal synapomorphies for vampire bats and propose chromosomes that were present in the common ancestor of the 5 genera analyzed. Karyotype comparisons allowed us to relate a number of conserved chromosomal segments among the 5 species, providing a broader database for understanding karyotype evolution in the family. 2010 S. Karger AG, Basel.

Isochromosome 13 in a patient with childhood-onset schizophrenia, ADHD, and motor tic disorder

Directory of Open Access Journals (Sweden)

Graw Sharon L

2012-01-01

Full Text Available Abstract Background A small percentage of all cases of schizophrenia have a childhood onset. The impact on the individual and family can be devastating. We report the results of genetic analyses from a patient with onset of visual hallucinations at 5 years, and a subsequent diagnosis at 9 years of schizophrenia, attention deficit hyperactivity disorder (ADHD with hyperactivity and impulsivity, and chronic motor tic disorder. Results Karyotypic analysis found 45,XX,i(13(q10 in all cells examined. Alpha satellite FISH of isochromosome 13 revealed a large unsplit centromeric region, interpreted as two centromeres separated by minimal or undetectable short-arm material or as a single monocentric centromere, indicating that the isochromosome likely formed post-zygotically by a short arm U-type or centromeric exchange. Characterization of chromosome 13 simple tandem repeats and Affymetrix whole-genome 6.0 SNP array hybridization found homozygosity for all markers, and the presence of only a single paternal allele in informative markers, consistent with an isodisomic isochromosome of paternal origin. Analysis of two chromosome 13 schizophrenia candidate genes, D-amino acid oxidase activator (DAOA and 5-hydroxytryptamine (serotonin receptor 2A (5-HTR2A, failed to identify non-synonymous coding mutations but did identify homozygous risk polymorphisms. Conclusions We report a female patient with childhood-onset schizophrenia, ADHD, and motor tic disorder associated with an isodisomic isochromosome 13 of paternal origin and a 45,XX,i(13(q10q10 karyotype. We examined two potential mechanisms to explain chromosome 13 involvement in the patient's pathology, including reduction to homozygosity of a paternal mutation and reduction to homozygosity of a paternal copy number variation, but were unable to identify any overtly pathogenic abnormality. Future studies may consider whether epigenetic mechanisms resulting from uniparental disomy (UPD and the lack of

Methylation specific Multiplex Ligation-dependent Probe Amplification

DEFF Research Database (Denmark)

Joergensen, M W; Rasmussen, A A; Niemann, I

2013-01-01

moles. Triploid pregnancies can have either the chromosomal constitution of two maternal and one paternal set, or two paternal and one maternal set, but only the conceptuses with two paternal sets have the potential to cause maternal complications. Therefore, it would be beneficial to introduce a method...... that gives the gynaecologist the parental origin of the genome of the triploid conceptus as early as possible, without delaying the process by first collecting parental samples....

The X chromosome in space.

Science.gov (United States)

Jégu, Teddy; Aeby, Eric; Lee, Jeannie T

2017-06-01

Extensive 3D folding is required to package a genome into the tiny nuclear space, and this packaging must be compatible with proper gene expression. Thus, in the well-hierarchized nucleus, chromosomes occupy discrete territories and adopt specific 3D organizational structures that facilitate interactions between regulatory elements for gene expression. The mammalian X chromosome exemplifies this structure-function relationship. Recent studies have shown that, upon X-chromosome inactivation, active and inactive X chromosomes localize to different subnuclear positions and adopt distinct chromosomal architectures that reflect their activity states. Here, we review the roles of long non-coding RNAs, chromosomal organizational structures and the subnuclear localization of chromosomes as they relate to X-linked gene expression.

Risk of Adverse Pregnancy Outcome After Paternal Exposure to Methotrexate Within 90 Days Before Pregnancy

DEFF Research Database (Denmark)

Eck, Lasse Karlsen; Jensen, Thomas Bo; Mastrogiannis, Dimitrios

2017-01-01

OBJECTIVE: To study the association between paternal exposure to methotrexate within the 90-day period before pregnancy and congenital malformations and stillbirth in the offspring. METHODS: We conducted a nationwide register study. Our cohort consisted of all live births in Denmark between 1997...... group and no increased risk of preterm birth (adjusted OR 1.31, 95% CI 0.66-2.59) among the children from exposed fathers. CONCLUSION: We found no association between paternal exposure to methotrexate within 90 days before pregnancy and congenital malformations, stillbirths, or preterm birth. Available...

Paternal care in a fish: epigenetics and fitness enhancing effects on offspring anxiety.

Science.gov (United States)

McGhee, Katie E; Bell, Alison M

2014-11-07

In many animals, including humans, interactions with caring parents can have long-lasting effects on offspring sensitivity to stressors. However, whether these parental effects impact offspring fitness in nature is often unclear. In addition, despite evidence that maternal care can influence offspring behaviour via epigenetic alterations to the genome, it remains unclear whether paternal care has similar effects. Here, we show in three-spined sticklebacks, a fish in which fathers are the sole provider of offspring care, that the direct care provided by fathers affects offspring anxiety and the potential for epigenetic alterations to the offspring genome. We find that families are differentially vulnerable to early stress and fathers can compensate for this differential sensitivity with the quality of their care. This variation in paternal care is also linked to the expression in offspring brains of a DNA methyltransferase (Dnmt3a) responsible for de novo methylation. We show that these paternal effects are potentially adaptive and anxious offspring are unlikely to survive an encounter with a predator. By supplying offspring care, fathers reduce offspring anxiety thereby increasing the survival of their offspring-not in the traditional sense through resource provisioning but through an epigenetic effect on offspring behavioural development. © 2014 The Author(s) Published by the Royal Society. All rights reserved.