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Sample records for reproduction genetically defined

  1. Animal models of physiologic markers of male reproduction: genetically defined infertile mice

    Energy Technology Data Exchange (ETDEWEB)

    Chubb, C.

    1987-10-01

    The present report focuses on novel animal models of male infertility: genetically defined mice bearing single-gene mutations that induce infertility. The primary goal of the investigations was to identify the reproductive defects in these mutant mice. The phenotypic effects of the gene mutations were deciphered by comparing the mutant mice to their normal siblings. Initially testicular steroidogenesis and spermatogenesis were investigated. The physiologic markers for testicular steroidogenesis were steroid secretion by testes perifused in vitro, seminal vesicle weight, and Leydig cell histology. Spermatogenesis was evaluated by the enumeration of homogenization-resistant sperm/spermatids in testes and by morphometric analyses of germ cells in the seminiferous epithelium. If testicular function appeared normal, the authors investigated the sexual behavior of the mice. The parameters of male sexual behavior that were quantified included mount patency, mount frequency, intromission latency, thrusts per intromission, ejaculation latency, and ejaculation duration. Females of pairs breeding under normal circumstances were monitored for the presence of vaginal plugs and pregnancies. The patency of the ejaculatory process was determined by quantifying sperm in the female reproductive tract after sexual behavior tests. Sperm function was studied by quantitatively determining sperm motility during videomicroscopic observation. Also, the ability of epididymal sperm to function within the uterine environment was analyzed by determining sperm capacity to initiate pregnancy after artificial insemination. Together, the experimental results permitted the grouping of the gene mutations into three general categories. They propose that the same biological markers used in the reported studies can be implemented in the assessment of the impact that environmental toxins may have on male reproduction.

  2. The reproductive genetics

    Directory of Open Access Journals (Sweden)

    Xavier Vendrell

    2017-08-01

    Full Text Available The development of Genetics is closely related with the assisted reproduction technologies from its beginnings at early 1970s. Very high quantities of genetic tests have been developed for couples. These tests allow stablishing the genetic risk, the diagnosis or the reproductive prognosis depending on the couple. The tests are designed to women, men or preimplantation embryos generated by in-vitro fertilization techniques. This paper aims to review the different studies that are currently available to future parents. The establishment of infertility causes is crucial in order to indicate proper treatments. Furthermore, the estimation of genetic risk is decisive to avoid serious disorders in the offspring. In this context, the preconception genetic counselling is extremely important and should be available to patients.

  3. Defining asthma in genetic studies

    NARCIS (Netherlands)

    Koppelman, GH; Postma, DS; Meijer, G.

    1999-01-01

    Genetic studies have been hampered by the lack of a gold standard to diagnose asthma. The complex nature of asthma makes it more difficult to identify asthma genes. Therefore, approaches to define phenotypes, which have been successful in other genetically complex diseases, may be applied to define

  4. Ethics in reproductive genetics.

    Science.gov (United States)

    Fletcher, J C; Evans, M I

    1992-12-01

    Ethics in reproductive genetics comprise descriptive ethics and normative ethics. Ethical problems before prenatal diagnosis involve genetic counseling and informed consent for the choice patients must make. Prenatal diagnosis using amniocentesis is controversial. An international survey of geneticists showed that 25% would do prenatal diagnosis for sex selection, and 17% would refer the couple elsewhere. Hungary (60%), India (37%), the US (34%), Canada (30%), Greece (29%), and Sweden (28%) would do prenatal diagnosis. The statistical incidence of positive findings after prenatal diagnosis does not exceed 4% of all cases when most couples choose abortion. Respect for parental choice and for nondirective counseling was supported in responses to 3 cases in the international survey that also had disclosure dilemmas included with abortion choices. 84% of respondents would be nondirective for XYY and 88% for XO. In India, Hungary, Turkey, and Norway, 46%, 40%, 40%, and 33%, respectively, would advise aborting an XO (Turner) fetus. A survey of 737 genetics and obstetricians and ethicists and clergy showed acceptability of abortion in singleton pregnancies and in twins associated strongly with the trimester of pregnancy, indication for selective termination, and fetal number. Prior group review of risks and benefits of experimental fetal therapy, case selection for experimental fetal therapy, the optimal informed-consent process for fetal therapy, twin pregnancies, refusal of proven fetal therapy, the lack of federal support for research in fetal diagnosis (preimplantation embryo diagnosis) and therapy, and sources of a moral obligation are also addressed. The Belmont Report on the ethics of biomedical research in the US proposed ethical principles to guide research with human subjects including the fetus: respect for parsons, beneficence, and justice.

  5. Genetic factors in assisted reproduction.

    Science.gov (United States)

    Gruber, Christian J; Hengstschläger, Markus; Leipold, Heinz; Gruber, Isabel M; Ferlitsch, Kathrin; Gruber, Doris M; Huber, Johannes C

    2003-12-15

    It is still unclear whether the procedures of assisted reproduction increase the risk of congenital malformations. Thus, it remains to be clarified whether an increased risk, if any, of congenital malformations in these children is caused by the procedure of assisted reproduction itself or by the underlying maternal and paternal background. From the genetic point of view, infertility patients seeking assisted reproduction have to be classified as a high-risk group. The prevalence of numerical chromosomal abnormalities is around 10% in these patients, compared with 0.85% in the general population. The prevalence of structural chromosomal abnormalities is around 0.1% in the general population and is increased up to 1% in patients seeking assisted reproduction. In addition, patients with microdeletions of the Y-chromosome or mutations in the cystic fibrosis transmembrane-conductance regulator gene are likely to be encountered at the fertility clinic. Therefore, genetic screening and counselling should be routinely offered to infertility patients. They also need to understand that parental factors can be transferred to offspring that would most likely not have been conceived by natural means.

  6. Genetic reproductive risk in inversion carriers.

    Science.gov (United States)

    Anton, Ester; Vidal, Francesca; Egozcue, Josep; Blanco, Joan

    2006-03-01

    To evaluate the risk of four inversion carriers for producing unbalanced gametes. Prospective analysis of sperm nuclei by fluorescence in situ hybridization (FISH). Universitat Autònoma de Barcelona. Four inversion carriers. A semen sample from each patient was collected and prepared for FISH. The segregation outcome of each inversion was analyzed. The presence of interchromosomal effects (ICE) on chromosomes 13, 18, 21, X, and Y was also evaluated. A variable production of unbalanced gametes, which implies a heterogeneous behavior of the inversions, was detected. This variability seems to be directly related to the size of the inversion, indicating that the production of recombinant gametes in inversion carriers would not be relevant when the inverted segment is smaller than 100 Mbp. Inversions have a well-defined reproductive effect on carriers. Carriers of inversions up to 100 Mbp have a low [corrected] reproductive risk and would not usually benefit from preimplantation genetic diagnosis.

  7. Genetically caused congenital anomalies of reproductive system

    Directory of Open Access Journals (Sweden)

    L. F. Kurilo

    2013-01-01

    Full Text Available Classification of congenital disorders, their frequency of occurrence in populations, and some terminology questions discussed in the review. Genetically caused congenital anomalies of reproductive system are outlined. Full information about genetic syndromes is stated in the book: Kozlova S.I., Demikova N.S. Hereditary syndromes and genetic counseling. M., 2007.

  8. Genetically caused congenital anomalies of reproductive system

    Directory of Open Access Journals (Sweden)

    L. F. Kurilo

    2014-11-01

    Full Text Available Classification of congenital disorders, their frequency of occurrence in populations, and some terminology questions discussed in the review. Genetically caused congenital anomalies of reproductive system are outlined. Full information about genetic syndromes is stated in the book: Kozlova S.I., Demikova N.S. Hereditary syndromes and genetic counseling. M., 2007.

  9. Reproductive cloning combined with genetic modification.

    Science.gov (United States)

    Strong, C

    2005-11-01

    Although there is widespread opposition to reproductive cloning, some have argued that its use by infertile couples to have genetically related children would be ethically justifiable. Others have suggested that lesbian or gay couples might wish to use cloning to have genetically related children. Most of the main objections to human reproductive cloning are based on the child's lack of unique nuclear DNA. In the future, it may be possible safely to create children using cloning combined with genetic modifications, so that they have unique nuclear DNA. The genetic modifications could be aimed at giving such children genetic characteristics of both members of the couple concerned. Thus, cloning combined with genetic modification could be appealing to infertile, lesbian, or gay couples who seek genetically related children who have genetic characteristics of both members. In such scenarios, the various objections to human reproductive cloning that are based on the lack of genetic uniqueness would no longer be applicable. The author argues that it would be ethically justifiable for such couples to create children in this manner, assuming these techniques could be used safely.

  10. Genetically-defined ovarian cancer mouse models.

    Science.gov (United States)

    Morin, Patrice J; Weeraratna, Ashani T

    2016-01-01

    Epithelial ovarian cancer (EOC), the deadliest of gynaecological cancers, is a disease that remains difficult to detect early and treat efficiently. A significant challenge for researchers in the field is that the aetiology of EOC and the molecular pathways important for its development are poorly understood. Moreover, precursor lesions have not been readily identifiable, making the mechanisms of EOC progression difficult to delineate. In order to address these issues, several genetically-defined ovarian mouse models have been generated in the past 15 years. However, because of the recent suggestion that most EOCs may not originate from the ovarian surface 'epithelium', but from other tissues of the female genital tract, some models may need to be re-evaluated within this new paradigm. In this review, we examine several genetically-defined EOC models and discuss how the new paradigm may explain some of the features of these models. A better understanding of the strengths and limitations of the current EOC mouse models will undoubtedly allow us to utilize these tools to better understand the biology of the disease and develop new approaches for EOC prevention, detection, and treatment. Copyright © 2015 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

  11. Defining the landscape of adaptive genetic diversity.

    Science.gov (United States)

    Eckert, Andrew J; Dyer, Rodney J

    2012-06-01

    Whether they are used to describe fitness, genome architecture or the spatial distribution of environmental variables, the concept of a landscape has figured prominently in our collective reasoning. The tradition of landscapes in evolutionary biology is one of fitness mapped onto axes defined by phenotypes or molecular sequence states. The characteristics of these landscapes depend on natural selection, which is structured across both genomic and environmental landscapes, and thus, the bridge among differing uses of the landscape concept (i.e. metaphorically or literally) is that of an adaptive phenotype and its distribution across geographical landscapes in relation to selective pressures. One of the ultimate goals of evolutionary biology should thus be to construct fitness landscapes in geographical space. Natural plant populations are ideal systems with which to explore the feasibility of attaining this goal, because much is known about the quantitative genetic architecture of complex traits for many different plant species. What is less known are the molecular components of this architecture. In this issue of Molecular Ecology, Parchman et al. (2012) pioneer one of the first truly genome-wide association studies in a tree that moves us closer to this form of mechanistic understanding for an adaptive phenotype in natural populations of lodgepole pine (Pinus contorta Dougl. ex Loud.). © 2012 Blackwell Publishing Ltd.

  12. Genetic and epigenetic risks of assisted reproduction.

    Science.gov (United States)

    Jiang, Ziru; Wang, Yinyu; Lin, Jing; Xu, Jingjing; Ding, Guolian; Huang, Hefeng

    2017-10-01

    Assisted reproductive technology (ART) is used primarily for infertility treatments to achieve pregnancy and involves procedures such as in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), and cryopreservation. Moreover, preimplantation genetic diagnosis (PGD) of ART is used in couples for genetic reasons. In ART treatments, gametes and zygotes are exposed to a series of non-physiological processes and culture media. Although the majority of children born with this treatment are healthy, some concerns remain regarding the safety of this technology. Animal studies and follow-up studies of ART-borne children suggested that ART was associated with an increased incidence of genetic, physical, or developmental abnormalities, although there are also observations that contradict these findings. As IVF, ICSI, frozen-thawed embryo transfer, and PGD manipulate gametes and embryo at a time that is important for reprogramming, they may affect epigenetic stability, leading to gamete/embryo origins of adult diseases. In fact, ART offspring have been reported to have an increased risk of gamete/embryo origins of adult diseases, such as early-onset diabetes, cardiovascular disease, and so on. In this review, we will discuss evidence related to genetic, especially epigenetic, risks of assisted reproduction. Copyright © 2017 Elsevier Ltd. All rights reserved.

  13. Genetic parameters for ewe reproduction with objectively measured ...

    African Journals Online (AJOL)

    Genetic parameters for ewe reproduction with objectively measured wool traits in Elsenburg Merino flock. ... South African Journal of Animal Science ... in the Western Cape, South Africa, were used to investigate the genetic parameters for ewe reproduction traits and their relationship with objectively measured wool traits.

  14. Genetic parameters of reproductive traits in pigs: a contribution

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    G. Pagnacco

    2011-03-01

    Full Text Available Generally pig breeding efficiency is defined as the number of piglets weaned per sow per year, so in every pig breeding programmes, great emphasis is placed on improving reproductive traits in sow lines and generally, the evaluation of litter size is carried out in most selection planes. Usually, the reproduction breeding goal is to increase the number of piglets born, but this trait, as reported by Hanenberg et al. (2001 gives an undesirable correlation with the number of stillborn piglets. Litter size is the result of a large number of traits as number of total piglets born, number of born alive, stillbirth, weaned survival; as reported by Tummaruk et al. (2000 the variation in these parameters is influenced by genetic value of the sow and by environmental factors, such as management and season. Regarding the genetic influence on the litter size, we know that the breed can influence the number of born, but its interaction with stillbirth is not significant, although Leenhouwers et al. (1999 found an higher stillbirth incidence in purebred than in crossbred litters........

  15. Genetic parameters for ewe reproduction with objectively measured ...

    African Journals Online (AJOL)

    2017-09-14

    Sep 14, 2017 ... Abstract. Reproduction is important for sustainable lamb production in Merino sheep. Data from a Merino flock maintained at Elsenburg Research Farm in the Western Cape, South Africa, were used to investigate the genetic parameters for ewe reproduction traits and their relationship with objectively ...

  16. Genetic parameters for reproduction rate in the Tygerhoek Merino ...

    African Journals Online (AJOL)

    Reproduction traits were lambs born/ewe conceived (Lb!Ec), lambs born/ewe mated (Lb/Em), and lambs weaned/ewe mated (Lw/Em). The genetic correlations of 18 months wool traits with reproduction traits were not very accurate and estimates larger than twice their standard errors were obtained only on a few occasions.

  17. Genetic parameters for reproductive traits in a beef cattle herd ...

    African Journals Online (AJOL)

    Unknown

    Heritabilities and genetic correlations for calving interval (CI), .... incidence matrixes relating records of the ith trait to fixed and random animal ... Regression equations and descriptive statistics for the reproductive traits are presented in Table 4.

  18. Moral and Legal Decisions in Reproductive and Genetic Engineering

    Science.gov (United States)

    Heim, Werner G.

    1972-01-01

    Discusses the moral and ethical issues raised by the imminent possibilities for genetic and reproductive manipulation of humans, the responsibilities of scientists, moralists, and social scientists, and the role of teachers in public information. (AL)

  19. Scope and Standards: Defining the Advanced Practice Role in Genetics.

    Science.gov (United States)

    Kerber, Alice S; Ledbetter, Nancy J

    2017-06-01

    Because knowledge concerning genetics and genomics and its application to oncology care is continuing to grow, oncology nurses must be aware of appropriate advanced scope of practice roles based on education and training. All nurses must develop and maintain knowledge of the field, but advanced practice nurses working in genetics have additional competencies and management expectations. Collaboration among practice levels and disciplines is essential. This article focuses on the advanced practice role as further defined in published resources outlining scope of practice in genetics. 
.

  20. Reproductive biotechnologies and management of animal genetic resources

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    Global awareness has increased efforts to conserve animal genetic resources (AnGR). Ex-situ conservation and management of AnGR is exclusively dependent upon an array of reproductive and genetic biotechnologies. These technologies range from well established protocols, e.g., cryopreservation of sper...

  1. Non-genetic variance in pigs: genetic analysis of reproduction and production traits

    NARCIS (Netherlands)

    Sell-Kubiak, E.B.

    2015-01-01

    Abstract Sell-Kubiak, E. (2015). Non-genetic variance in pigs: genetic analysis of reproduction and production traits. PhD thesis, Wageningen University, The Netherlands The main objective of this thesis was to study the origin of random variance in reproduction and production

  2. Genetic diversity and reproductive success in mandrills (Mandrillus sphinx).

    Science.gov (United States)

    Charpentier, M; Setchell, J M; Prugnolle, F; Knapp, L A; Wickings, E J; Peignot, P; Hossaert-McKey, M

    2005-11-15

    Recent studies of wild animal populations have shown that estimators of neutral genetic diversity, such as mean heterozygosity, are often correlated with various fitness traits, such as survival, disease susceptibility, or reproductive success. We used two estimators of genetic diversity to explore the relationship between heterozygosity and reproductive success in male and female mandrills (Mandrillus sphinx) living in a semifree ranging setting in Gabon. Because social rank is known to influence reproductive success in both sexes, we also examined the correlation between genetic diversity and social rank in females, and acquisition of alpha status in males, as well as length of alpha male tenure. We found that heterozygous individuals showed greater reproductive success, with both females and males producing more offspring. However, heterozygosity influenced reproductive success only in dominant males, not in subordinates. Neither the acquisition of alpha status in males, nor social rank in females, was significantly correlated with heterozygosity, although more heterozygous alpha males showed longer tenure than homozygous ones. We also tested whether the benefits of greater genetic diversity were due mainly to a genome-wide effect of inbreeding depression or to heterosis at one or a few loci. Multilocus effects best explained the correlation between heterozygosity and reproductive success and tenure, indicating the occurrence of inbreeding depression in this mandrill colony.

  3. Reproduction in Leishmania: A focus on genetic exchange.

    Science.gov (United States)

    Rougeron, V; De Meeûs, T; Bañuls, A-L

    2017-06-01

    One key process of the life cycle of pathogens is their mode of reproduction. Indeed, this fundamental biological process conditions the multiplication and the transmission of genes and thus the propagation of diseases in the environment. Reproductive strategies of protozoan parasites have been a subject of debate for many years, principally due to the difficulty in making direct observations of sexual reproduction (i.e. genetic recombination). Traditionally, these parasites were considered as characterized by a preeminent clonal structure. Nevertheless, with the development of elaborate culture experiments, population genetics and evolutionary and population genomics, several studies suggested that most of these pathogens were also characterized by constitutive genetic recombination events. In this opinion, we focused on Leishmania parasites, pathogens responsible of leishmaniases, a major public health issue. We first discuss the evolutionary advantages of a mixed mating reproductive strategy, then we review the evidence of genetic exchange, and finally we detail available tools to detect naturally occurring genetic recombination in Leishmania parasites and more generally in protozoan parasites. Copyright © 2016. Published by Elsevier B.V.

  4. Reproductive Flexibility: Genetic Variation, Genetic Costs and Long-Term Evolution in a Collembola

    Science.gov (United States)

    Tully, Thomas; Ferrière, Régis

    2008-01-01

    In a variable yet predictable world, organisms may use environmental cues to make adaptive adjustments to their phenotype. Such phenotypic flexibility is expected commonly to evolve in life history traits, which are closely tied to Darwinian fitness. Yet adaptive life history flexibility remains poorly documented. Here we introduce the collembolan Folsomia candida, a soil-dweller, parthenogenetic (all-female) microarthropod, as a model organism to study the phenotypic expression, genetic variation, fitness consequences and long-term evolution of life history flexibility. We demonstrate that collembola have a remarkable adaptive ability for adjusting their reproductive phenotype: when transferred from harsh to good conditions (in terms of food ration and crowding), a mother can fine-tune the number and the size of her eggs from one clutch to the next. The comparative analysis of eleven clonal populations of worldwide origins reveals (i) genetic variation in mean egg size under both good and bad conditions; (ii) no genetic variation in egg size flexibility, consistent with convergent evolution to a common physiological limit; (iii) genetic variation of both mean reproductive investment and reproductive investment flexibility, associated with a reversal of the genetic correlation between egg size and clutch size between environmental conditions ; (iv) a negative genetic correlation between reproductive investment flexibility and adult lifespan. Phylogenetic reconstruction shows that two life history strategies, called HIFLEX and LOFLEX, evolved early in evolutionary history. HIFLEX includes six of our 11 clones, and is characterized by large mean egg size and reproductive investment, high reproductive investment flexibility, and low adult survival. LOFLEX (the other five clones) has small mean egg size and low reproductive investment, low reproductive investment flexibility, and high adult survival. The divergence of HIFLEX and LOFLEX could represent different

  5. Heritability and genetic correlation of production and reproduction ...

    African Journals Online (AJOL)

    Heritability and genetic correlation of production and reproduction traits of Simmental cows. V Pantelić, L Sretenović, D Ostojić-Andrić, S Trivunović, MM Petrović, S Aleksić, D Ružić-Muslić ...

  6. Children of the new reproductive technologies: social and genetic parenthood

    NARCIS (Netherlands)

    Bos, H.; van Balen, F.

    2010-01-01

    Objective: To review empirical studies on families created by new reproductive technologies (NRT) in which only one parent has a genetic link to the child. Methodology: Literature search was conducted among computerized databases. Inclusion criteria were that studies should focus on childrearing or

  7. Genetic and phenotypic parameters of reproduction and lactation ...

    African Journals Online (AJOL)

    This study was done to estimate genetic and phenotypic parameters for Friesian x Boran crossbred dairy cattle of Kagera region. Parameters estimated were heritability, repeatability and phenotypic correlations of various lactation and reproductive traits. Variance component (VARCOMP) procedure and general linear ...

  8. Genetic parameters for reproduction rate in the Tygerhoek Merino ...

    African Journals Online (AJOL)

    progeny of selection group rams used in two mating seasons, and the second one including progeny of all the available selection and control group rams, as was repor- ted earlier. Covariance components for the calculation of genetic correlations between pre-mating live mass and subsequent reproduction at ages of2 ...

  9. Genetic parameters for reproduction rate in the Tygerhoek Merino ...

    African Journals Online (AJOL)

    months in New Zealand' Romney sheep (Clarke, 1972), but not in Irish Galway sheep (Hanrahan, 1976). From these results itappears that, although the general tendency favours a positive genetic correlation between live mass and reproduction, there still is some uncertainty with regard to this aspect. The present data were ...

  10. Genetic trends in the performance and reproductive traits of pigs

    Directory of Open Access Journals (Sweden)

    Rodolpho de Almeida Torres Filho

    2005-03-01

    Full Text Available The selection and evaluation of breeds and purebred lines to be used as the parental stock is an important step for the success of any animal breeding program. In this study, the feed:gain ratio, backfat thickness corrected for 100 kg, age to 100 kg, average daily gain, and age of sow at first farrowing were used to evaluate the genetic trends for direct and maternal additive genetic values in Large White pigs. The total number of piglets born or born alive and the litter weight at birth were used as indicators of the genetic trends for the direct additive values. The genetic trends were calculated by regression of the average predicted genetic values per year for each trait versus the offspring's year of birth (for performance traits or versus the dam year of birth (for reproduction traits. The genetic trend estimates for direct effects showed that selection decisions made during the breeding program effectively improved the performance traits. However, for reproductive traits, the regression estimates showed no definite trend. The genetic trends for the maternal effects were generally positive but of low magnitude.

  11. High incidence of monozygotic twinning after assisted reproduction is related to genetic information, but not to assisted reproduction technology itself

    Czech Academy of Sciences Publication Activity Database

    Sobek Jr., A.; Zbořilová, B.; Procházka, M.; Šilhánová, E.; Koutná, O.; Klásková, E.; Tkadlec, Emil; Sobek, A.

    2015-01-01

    Roč. 103, č. 3 (2015), s. 756-760 ISSN 0015-0282 Institutional support: RVO:68081766 Keywords : monozygotic twins * genetics * assisted reproduction techniques * infertility Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 4.426, year: 2015

  12. The morality of assisted reproduction and genetic manipulation

    Directory of Open Access Journals (Sweden)

    Maurizio Mori

    Full Text Available The author analyzes the pros and cons of various forms of assisted reproduction, including the use of so-called 'genetic manipulation'. He shows how in ethics the only arguments with any chance of reaching a consensus (or at least an agreement are those of the rational type, based on universally acceptable ethical principles or corroborated by empirical facts and real life experience (as the starting point for identifying problems requiring analysis. After an analysis in which he identifies the incoherence and inconsistency of arguments against assisted reproduction, the author defends the right of human beings to decide autonomously about the most healthy forms of procreation, including those involving genetic manipulation. His starting point is the moral principle by which it is morally preferable to intervene in natural processes (as opposed to not intervening whenever this implies preventing and reducing disease and suffering

  13. Genetic testing and reproductive choice in neurological disorders.

    Science.gov (United States)

    Lee, Omay; Porteous, Mary

    2017-08-01

    Genetic testing is increasingly important for investigating suspected inherited neurological conditions. A genetic diagnosis can have a huge impact on patients and also their families. It is important for neurologists to appreciate the presymptomatic and prenatal testing options available to patients and their at-risk relatives once a genetic disorder is diagnosed. Asymptomatic family members can experience considerable psychological distress from the knowledge that they might have inherited a neurodegenerative condition. They may also be concerned about the risk of their children inheriting the condition. Information on reproductive options can provide hope and reassurance. This paper reviews the principles of genetic testing in neurological practice, and how they can be applied in prenatal and preimplantation genetic diagnosis. We explain the basis for direct and exclusion testing, use case examples to illustrate the process by which families are counselled and discuss the ethical implications of reproductive technologies. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  14. Sexual reproduction reshapes the genetic architecture of digital organisms.

    Science.gov (United States)

    Misevic, Dusan; Ofria, Charles; Lenski, Richard E

    2006-02-22

    Modularity and epistasis, as well as other aspects of genetic architecture, have emerged as central themes in evolutionary biology. Theory suggests that modularity promotes evolvability, and that aggravating (synergistic) epistasis among deleterious mutations facilitates the evolution of sex. Here, by contrast, we investigate the evolution of different genetic architectures using digital organisms, which are computer programs that self-replicate, mutate, compete and evolve. Specifically, we investigate how genetic architecture is shaped by reproductive mode. We allowed 200 populations of digital organisms to evolve for over 10 000 generations while reproducing either asexually or sexually. For 10 randomly chosen organisms from each population, we constructed and analysed all possible single mutants as well as one million mutants at each mutational distance from 2 to 10. The genomes of sexual organisms were more modular than asexual ones; sites encoding different functional traits had less overlap and sites encoding a particular trait were more tightly clustered. Net directional epistasis was alleviating (antagonistic) in both groups, although the overall strength of this epistasis was weaker in sexual than in asexual organisms. Our results show that sexual reproduction profoundly influences the evolution of the genetic architecture.

  15. Estimation of genetic parameters for reproductive traits in Shall sheep.

    Science.gov (United States)

    Amou Posht-e-Masari, Hesam; Shadparvar, Abdol Ahad; Ghavi Hossein-Zadeh, Navid; Hadi Tavatori, Mohammad Hossein

    2013-06-01

    The objective of this study was to estimate genetic parameters for reproductive traits in Shall sheep. Data included 1,316 records on reproductive performances of 395 Shall ewes from 41 sires and 136 dams which were collected from 2001 to 2007 in Shall breeding station in Qazvin province at the Northwest of Iran. Studied traits were litter size at birth (LSB), litter size at weaning (LSW), litter mean weight per lamb born (LMWLB), litter mean weight per lamb weaned (LMWLW), total litter weight at birth (TLWB), and total litter weight at weaning (TLWW). Test of significance to include fixed effects in the statistical model was performed using the general linear model procedure of SAS. The effects of lambing year and ewe age at lambing were significant (Psheep.

  16. Genetic strain and reproductive status affect endometrial fatty acid concentrations.

    Science.gov (United States)

    Meier, S; Peterson, A J; Mitchell, M D; Littlejohn, M; Walker, C G; Roche, J R

    2009-08-01

    Poor reproductive performance limits cow longevity in seasonal, pasture-based dairy systems. Few differences in ovarian dynamics have been reported in different strains of Holstein-Friesian cows, implying that the uterine environment may be a key component determining reproductive success. To test the hypothesis that the uterine environment differs among genetic strains of the Holstein-Friesian cow, endometrial fatty acids (FA) were analyzed from New Zealand (NZ), and North American (NA) Holstein-Friesian cows. The effect of reproductive status was also investigated, with cows from both Holstein-Friesian strains slaughtered on either d 17 of the estrous cycle (termed cyclic) or d 17 of pregnancy (after embryo transfer; termed pregnant). Endometrial tissues were collected from 22 cows (NZ pregnant, n = 6; NZ cyclic, n = 4; NA pregnant, n = 6; NA cyclic, n = 6), and FA composition was analyzed. Daily plasma progesterone concentrations, milk production, milk FA composition, body weight, and body condition score were determined. Milk yield (4% fat-corrected milk) was similar for the NZ (28.5 kg/d) and NA (29.3 kg/d; SE 2.07 kg/d) cows, but NZ cows had a greater mean milk fat percentage. Mean plasma progesterone concentrations were significantly greater in NZ cows. Plasma progesterone concentrations were similar in the pregnant and cyclic groups. Mean length of the trophoblast recovered from the pregnant cows (NZ: 20.8 +/- 2.84 cm; NA: 27.9 +/- 10.23 cm) was not affected by genetic strain. Endometrial tissues from NZ cows contained greater concentrations of C17:0, C20:3n-3, and total polyunsaturated FA. The endometria from pregnant cows contained greater concentrations of C17:0, C20:2, and C20:3n-6, and less C20:1, C20:2, C20:5n-3. The observed changes in endometrial FA between Holstein-Friesian cows of different genetic origins or reproductive states may reflect differences in endometrial function and may affect reproductive function.

  17. Genetic Dissection of Sexual Reproduction in a Primary Homothallic Basidiomycete.

    Directory of Open Access Journals (Sweden)

    Márcia David-Palma

    2016-06-01

    Full Text Available In fungi belonging to the phylum Basidiomycota, sexual compatibility is usually determined by two genetically unlinked MAT loci, one of which encodes one or more pheromone receptors (P/R and pheromone precursors, and the other comprehends at least one pair of divergently transcribed genes encoding homeodomain (HD transcription factors. Most species are heterothallic, meaning that sexual reproduction requires mating between two sexually compatible individuals harboring different alleles at both MAT loci. However, some species are known to be homothallic, one individual being capable of completing the sexual cycle without mating with a genetically distinct partner. While the molecular underpinnings of the heterothallic life cycles of several basidiomycete model species have been dissected in great detail, much less is known concerning the molecular basis for homothallism. Following the discovery in available draft genomes of the homothallic basidiomycetous yeast Phaffia rhodozyma of P/R and HD genes, we employed available genetic tools to determine their role in sexual development. Two P/R clusters, each harboring one pheromone receptor and one pheromone precursor gene were found in close vicinity of each other and were shown to form two redundant P/R pairs, each receptor being activated by the pheromone encoded by the most distal pheromone precursor gene. The HD locus is apparently genetically unlinked to the P/R locus and encodes a single pair of divergently transcribed HD1 and HD2 transcription factors, both required for normal completion of the sexual cycle. Given the genetic makeup of P. rhodozyma MAT loci, we postulate that it is a primarily homothallic organism and we propose a model for the interplay of molecular interactions required for sexual development in this species. Phaffia rhodozyma is considered one of the most promising microbial source of the carotenoid astaxanthin. Further development of this yeast as an industrial organism

  18. Genetic parameter estimation of reproductive traits of Litopenaeus vannamei

    Science.gov (United States)

    Tan, Jian; Kong, Jie; Cao, Baoxiang; Luo, Kun; Liu, Ning; Meng, Xianhong; Xu, Shengyu; Guo, Zhaojia; Chen, Guoliang; Luan, Sheng

    2017-02-01

    In this study, the heritability, repeatability, phenotypic correlation, and genetic correlation of the reproductive and growth traits of L. vannamei were investigated and estimated. Eight traits of 385 shrimps from forty-two families, including the number of eggs (EN), number of nauplii (NN), egg diameter (ED), spawning frequency (SF), spawning success (SS), female body weight (BW) and body length (BL) at insemination, and condition factor (K), were measured,. A total of 519 spawning records including multiple spawning and 91 no spawning records were collected. The genetic parameters were estimated using an animal model, a multinomial logit model (for SF), and a sire-dam and probit model (for SS). Because there were repeated records, permanent environmental effects were included in the models. The heritability estimates for BW, BL, EN, NN, ED, SF, SS, and K were 0.49 ± 0.14, 0.51 ± 0.14, 0.12 ± 0.08, 0, 0.01 ± 0.04, 0.06 ± 0.06, 0.18 ± 0.07, and 0.10 ± 0.06, respectively. The genetic correlation was 0.99 ± 0.01 between BW and BL, 0.90 ± 0.19 between BW and EN, 0.22 ± 0.97 between BW and ED, -0.77 ± 1.14 between EN and ED, and -0.27 ± 0.36 between BW and K. The heritability of EN estimated without a covariate was 0.12 ± 0.08, and the genetic correlation was 0.90 ± 0.19 between BW and EN, indicating that improving BW may be used in selection programs to genetically improve the reproductive output of L. vannamei during the breeding. For EN, the data were also analyzed using body weight as a covariate (EN-2). The heritability of EN-2 was 0.03 ± 0.05, indicating that it is difficult to improve the reproductive output by genetic improvement. Furthermore, excessive pursuit of this selection is often at the expense of growth speed. Therefore, the selection of high-performance spawners using BW and SS may be an important strategy to improve nauplii production.

  19. The reproductive performance of Bali cattle and it’s genetic variation

    Directory of Open Access Journals (Sweden)

    Sri Rahayu

    2015-07-01

    Full Text Available Bali cattle ( Bos sondaicus is one of the Indonesia native cattle which is the result of wild banteng domestication. The advantages of Bali cattle, among others, are having a high fertility rate (80-82% and good adaptability to the new environment. It was found that there are genetic variation in several genes associated with reproductive function in Bali cattle. Some studies have reported an association between genetic variation in reproductive function of cattle. However, studies on the correlation between genetic variation reproductive genes with reproductive performance of Bali cattle are still low. This article aims to provide an overview of Bali cattle genetic variation reproductive genes and making it possible as candidate marker for selection and improving reproductive performance of Bali cattle. Key words: Bali cattle, reproductive performance, genetic variation

  20. Genetic and phenotypic variation in reproductive traits of AI boars.

    Science.gov (United States)

    Flowers, William L

    2008-11-01

    The primary objective of this paper is to review our current understanding of phenotypic variation in reproductive traits of AI boars. The proportion of boars that cannot be trained for collection in commercial studs is low and differences among genetic lines are small. In contrast, there is a considerable variation in sperm production and significant differences are present among genotypes. The general pattern is for sperm numbers to increase rapidly between 9 and 13 months of age and then gradually reach a plateau. This initial period of enhanced production occurs over a longer period in some genetic lines, resulting in differences of 30 x 10(9) sperm cells or more per ejaculate. There also are genetic lines of boars that seem to have a high "heat tolerance". Decreases in sperm production during periods of high environmental temperatures average 5-7% in these lines, compared with 15-20% in others. Finally, there are boars currently being used in the industry that are capable of producing exceptional fertility results with low numbers of sperm. Unfortunately, several breeding practices common to swine AI make their routine identification difficult. Based on the phenotypic variation observed in modern terminal sire lines of AI boars, current prospects for influencing sperm production, boar fertility, and mounting behaviours through genetic selection are viewed as being good, moderate to low, and poor, respectively.

  1. Reproductive Affective Disorders: a Review of the Genetic Evidence for Premenstrual Dysphoric Disorder and Postpartum Depression.

    Science.gov (United States)

    McEvoy, Katherine; Osborne, Lauren M; Nanavati, Julie; Payne, Jennifer L

    2017-10-30

    The purpose of this study is to review and summarize the literature exploring the genetic basis for premenstrual dysphoric disorder (PMDD) and postpartum depression (PPD). There is more evidence for a genetic basis for PPD than for PMDD, but only when PPD is defined as beginning in the immediate postpartum time period. Familial, genome-wide linkage and association studies, and candidate gene studies, most in the past 10 years, have examined the genetic etiology of reproductive affective disorders, including PMDD and PPD. The most commonly studied genes include SERT, COMT, MAOA, BDNF, and ESR1 and 2. This qualitative review of the recent literature finds limited evidence so far for the genetic basis for PMDD, with both familial and candidate gene studies having negative or conflicting results. Evidence is stronger for the genetic basis for PPD, with positive associations found in family studies and in several genes associated with major depression as well as genes involved in estrogen signaling but only when PPD onset is shortly after delivery. Epigenetic biomarkers on genes responsive to estrogen have also been found to predict PPD. Our findings underscore the need for additional studies with larger samples, as well as the crucial importance of timing in the definition of PPD for genetic studies.

  2. (Re)Defining Reproductive Health With and For the Community: An ...

    African Journals Online (AJOL)

    Both the young people and `societal gatekeepers' (including religious leaders and traditional healers) perceived reproductive health to comprise the social dynamics in which reproductive health decision-making is embedded and not just the biological aspects of sexual relations and fertility. Their definitions of reproductive ...

  3. Thinking theologically about reproductive and genetic enhancements: the challenge.

    Science.gov (United States)

    Khushf, George

    1999-08-01

    Current philosophical and legal bioethical reflections on reprogenetics provides little more than a rationalization of the interests of science. There are two reasons for this. First, bioethicists attempt to address ethical issues in a "language of precision" that characterizes science, and this works against analogical and narratological modes of discourse that have traditionally provided guidance for understanding human nature and purpose. Second, the current ethical and legal debate is framed by a public/private distinction that banishes robust norms to the private realm, and leaves a minimalist public discourse of harm avoidance that is insuffucient for regulating the science. In this essay, I argue that Mark Hanson's account of anxiety provides a valuable starting point for addressing deficiencies in the current philosophical and legal debate, and it highlights the need for a theological discourse on genetic enhancements. Through an assessment of Joel Shuman's criticism of the public/private distinction, I show how the needed theological discourse should be situated in the context of robust communities, and how such a communitarian inter-ethic is compatible with a variant of liberalism. Finally, I critically assess James Keenan's account of virtue and perfection, in order to outline what a sufficient discourse on reproductive and genetic enhancements requires.

  4. Stocking the genetic supermarket: reproductive genetic technologies and collective action problems.

    Science.gov (United States)

    Gyngell, Chris; Douglas, Thomas

    2015-05-01

    Reproductive genetic technologies (RGTs) allow parents to decide whether their future children will have or lack certain genetic predispositions. A popular model that has been proposed for regulating access to RGTs is the 'genetic supermarket'. In the genetic supermarket, parents are free to make decisions about which genes to select for their children with little state interference. One possible consequence of the genetic supermarket is that collective action problems will arise: if rational individuals use the genetic supermarket in isolation from one another, this may have a negative effect on society as a whole, including future generations. In this article we argue that RGTs targeting height, innate immunity, and certain cognitive traits could lead to collective action problems. We then discuss whether this risk could in principle justify state intervention in the genetic supermarket. We argue that there is a plausible prima facie case for the view that such state intervention would be justified and respond to a number of arguments that might be adduced against that view. © 2014 The Authors. Bioethics published by John Wiley & Sons Ltd.

  5. Reproductive strategies and genetic variability in tropical freshwater fish

    Directory of Open Access Journals (Sweden)

    Maria Dolores Peres Lassala

    2007-01-01

    Full Text Available We estimated the genetic variability of nine fish species from the Brazilian upper Paraná River floodplain (Astyanax altiparanae, Hoplias malabaricus, Leporinus lacustris, Loricariichthys platymetopon, Parauchenipterus galeatus, Pimelodus maculatus, Rhaphiodon vulpinus, Roeboides paranensis and Serrasalmus marginatus based on data for 36 putative allozyme loci obtained using corn starch gel electrophoresis of 13 enzymatic systems: aspartate aminotransferase (EC 2.6.1.1, acid phosphatase (EC 3.1.3.2, esterase (EC 3.1.1.1, glycerol-3-phosphate dehydrogenase (EC 1.1.1.8, glucose-6-phosphate dehydrogenase (EC 1.1.1.49, glucose-6-phosphate isomerase (EC 5.3.1.9, Iditol dehydrogenase (EC 1.1.1.14, isocitrate dehydrogenase - NADP+ (EC 1.1.1.42, L-lactate dehydrogenase (EC 1.1.1.27, malate dehydrogenase (EC 1.1.1.37, malate dehydrogenase-NADP+ (EC 1.1.1.40, phosphoglucomutase (EC 5.4.2.2 and superoxide dismutase, (EC 1.15.1.1. The mean expected heterozygosity varied from zero to 0.147. When data from the literature for 75 species of tropical fish were added to the nine species of this study, the heterozygosity values differed significantly among the groups of different reproductive strategies. The highest mean heterozygosity was for the non-migratory without parental care, followed by the long-distance migratory, and the lowest mean was for the non-migratory with parental care or internal fecundation.

  6. Children of the new reproductive technologies: social and genetic parenthood.

    Science.gov (United States)

    Bos, Henny; van Balen, Frank

    2010-12-01

    To review empirical studies on families created by new reproductive technologies (NRT) in which only one parent has a genetic link to the child. Literature search was conducted among computerized databases. Inclusion criteria were that studies should focus on childrearing or parenting, as well as on the psychological adjustment of children in: heterosexual families formed through artificial insemination with donated semen (AID), single-mother AID families, oocyte-donation families, planned lesbian-mother families, planned gay-father families, and partial surrogacy families. Compared to natural-conception parents, parents in these NRT families have better relationships with their children, and their children are functioning well. Although several studies show that parents in NRT families are more emotionally involved in their parenting than are parents in naturally conceived families, no empirical evidence was found that the psychological adjustment of children in NRT families differs from that of their counterparts in natural-conception families. PRACTICAL IMPLICATION: The results inform counselors and infertile couples that concerns regarding the use of NRT in relation to negative consequences for the parent-child relationship or the psychological adjustment of the child are till now unfounded. Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.

  7. Multilayered genetic safeguards limit growth of microorganisms to defined environments.

    Science.gov (United States)

    Gallagher, Ryan R; Patel, Jaymin R; Interiano, Alexander L; Rovner, Alexis J; Isaacs, Farren J

    2015-02-18

    Genetically modified organisms (GMOs) are commonly used to produce valuable compounds in closed industrial systems. However, their emerging applications in open clinical or environmental settings require enhanced safety and security measures. Intrinsic biocontainment, the creation of bacterial hosts unable to survive in natural environments, remains a major unsolved biosafety problem. We developed a new biocontainment strategy containing overlapping 'safeguards'-engineered riboregulators that tightly control expression of essential genes, and an engineered addiction module based on nucleases that cleaves the host genome-to restrict viability of Escherichia coli cells to media containing exogenously supplied synthetic small molecules. These multilayered safeguards maintain robust growth in permissive conditions, eliminate persistence and limit escape frequencies to <1.3 × 10(-12). The staged approach to safeguard implementation revealed mechanisms of escape and enabled strategies to overcome them. Our safeguarding strategy is modular and employs conserved mechanisms that could be extended to clinically or industrially relevant organisms and undomesticated species. © The Author(s) 2015. Published by Oxford University Press on behalf of Nucleic Acids Research.

  8. (Re)Defining Reproductive Health With and For the Community: An ...

    African Journals Online (AJOL)

    Les jeunes gens et les gardiens de la société (y compris les leaders religieux et les guérisseurs traditionnels) ont aperçu la santé reproductive comme étant composée de la dynamique sociale à l'intérieur de laquelle est gravée la prise de décision sur la santé reproductive et non pas seulement les aspects biologiques des ...

  9. Genetic parameters for reproductive traits in female Nile tilapia (Oreochromis niloticus): II. Fecundity and fertility

    NARCIS (Netherlands)

    Trong, T.Q.; Arendonk, van J.A.M.; Komen, J.

    2013-01-01

    Harvest weight is the main trait in Nile tilapia (Oreochromis niloticus) breeding programmes. The effects of selection for harvest weight on female reproductive traits are unknown. In this paper we estimate genetic parameters for reproductive traits and their correlation with harvest weight using

  10. Reproductive genetics, gender and the body: 'please doctor, may I have a normal baby?'.

    Science.gov (United States)

    Ettorre, E

    2000-08-01

    This paper's purpose is to highlight key sociological issues, that come to light when 'the body' becomes a theoretical site in reproductive genetics. By positioning the body as a central feature in this analysis, the paper: (1) describes how a mechanistic view of the body continues to be privileged in this discourse and the effects of this view; (2) examines how reproductive limits are practised on the gendered body through a feminised regime of reproductive asceticism and the discourse on shame; and (3) explores the social effects and limitations of reproductive genetics in relation to disability as a cultural representation of impaired bodies. The central assumption concerning reproductive genetics are that it appears within surveillance medicine as a part of a disciplinary process in society's creation of a genetic moral order, that it is mobilised by experts for the management of reproductive bodies and that it constructs a limited view of the body. Thus, the way reproductive genetics operatives tends to hide the fact that what may appear as 'defective genes' is a result of a body's interaction not only with the environment but also gendered social practices valorised by difference as well as rigid definitions of health and illness. The research is from a 1995-96 European study of experts interviewed in four countries.

  11. Genetic variability and heritability studies of some reproductive traits ...

    African Journals Online (AJOL)

    GRACE

    2006-07-03

    Jul 3, 2006 ... genotypic variability of some reproductive traits and their heritability in some selected cowpea varieties. Results of ... Broad-sense heritability estimate (h2) was 98.9% for 100-seed weight, 94% for duration of reproductive phase, 84.5% for .... days interval to control flowering-and post-flowering insect pests.

  12. Genetic associations between reproductive and linear-type traits of Holstein cows in Brazil

    Directory of Open Access Journals (Sweden)

    Tatiana Prestes Almeida

    Full Text Available ABSTRACT This study aimed to estimate heritability, genetic, and residual correlations between reproductive traits such as age at first calving, calving interval, dry period, and first service period and linear type traits measured in Holstein cows born between the years 1990 and 2008 in Brazil. The (covariance components were estimated by restricted maximum likelihood, using the MTDFREML software. The heritability for reproductive traits and linear-type traits ranged from 0.02 to 0.03 and from 0.07 to 0.40, respectively. Estimates of genetic correlations between reproductive and linear-type traits ranged from -0.23 (top line to 0.28 (angularity to age at first calving, from -0.54 (final score to 0.34 (foot angle to calving interval, from -0.23 (angularity to 0.56 (stature to dry period, and from -0.52 (final score to 0.36 (height udder to first service period. Direct selection for any of the reproductive traits implies low genetic gains by virtue of their low heritabilities. Among the linear-type traits, the final score, chest width, top line, angularity, teat length, udder attachment, rear teat placement were highlighted as good auxiliary traits to improve reproductive efficiency of Holstein cows in Brazil. The simultaneous selection for reproductive and linear-type traits can lead a higher genetic progress in the reproductive traits.

  13. Genetic variation of male reproductive success in a laboratory population of Anopheles gambiae

    Directory of Open Access Journals (Sweden)

    Voordouw Maarten J

    2007-07-01

    Full Text Available Abstract Background For Anopheline mosquitoes, the vectors of human malaria, genetic variation in male reproductive success can have important consequences for any control strategy based on the release of transgenic or sterile males. Methods A quantitative genetics approach was used to test whether there was a genetic component to variation in male reproductive success in a laboratory population of Anopheles gambiae. Swarms of full sibling brothers were mated with a fixed number of females and their reproductive success was measured as (1 proportion of ovipositing females, (2 proportion of ovipositing females that produced larvae, (3 proportion of females that produced larvae, (4 number of eggs laid per female, (5 number of larvae per ovipositing female and (6 number of larvae per female. Results The proportion of ovipositing females (trait 1 and the proportion of ovipositing females that produced larvae (trait 2 differed among full sib families, suggesting a genetic basis of mating success. In contrast, the other measures of male reproductive success showed little variation due to the full sib families, as their variation are probably mostly due to differences among females. While age at emergence and wing length of the males were also heritable, they were not associated with reproductive success. Larger females produced more eggs, but males did not prefer such partners. Conclusion The first study to quantify genetic variation for male reproductive success in A. gambiae found that while the initial stages of male reproduction (i.e. the proportion of ovipositing females and the proportion of ovipositing females that produced larvae had a genetic basis, the overall reproductive success (i.e. the mean number of larvae per female did not.

  14. A method for identifying genetic heterogeneity within phenotypically defined disease subgroups.

    Science.gov (United States)

    Liley, James; Todd, John A; Wallace, Chris

    2017-02-01

    Many common diseases show wide phenotypic variation. We present a statistical method for determining whether phenotypically defined subgroups of disease cases represent different genetic architectures, in which disease-associated variants have different effect sizes in two subgroups. Our method models the genome-wide distributions of genetic association statistics with mixture Gaussians. We apply a global test without requiring explicit identification of disease-associated variants, thus maximizing power in comparison to standard variant-by-variant subgroup analysis. Where evidence for genetic subgrouping is found, we present methods for post hoc identification of the contributing genetic variants. We demonstrate the method on a range of simulated and test data sets, for which expected results are already known. We investigate subgroups of individuals with type 1 diabetes (T1D) defined by autoantibody positivity, establishing evidence for differential genetic architecture with positivity for thyroid-peroxidase-specific antibody, driven generally by variants in known T1D-associated genomic regions.

  15. Genetic association between leg conformation in young pigs and sow reproduction

    DEFF Research Database (Denmark)

    Le, Thu Hong; Nilsson, Katja; Norberg, Elise

    2015-01-01

    Lameness is an issue of concern in pig production due both to animal welfare and to economical aspects. Lame sows are believed to suffer from pain and stress which is reported to have a negative influence on reproduction. Leg conformation and locomotion traits in young animals are associated....... Estimates of heritabilities and genetic correlations between traits were obtained using a multi-trait linear animal mixed model. The heritability estimates were low to moderate, ranging from 0.02 to 0.20 for conformation traits and from 0.06 to 0.10 for reproduction traits. Significant genetic correlations...... with the risk of lameness at higher age. The purpose of this study was to estimate the genetic parameters of leg conformation traits recorded at performance testing (around 5 months of age) and their genetic correlations with reproduction traits. Information on leg conformation traits from 123,307 pigs scored...

  16. Recent developments in genetics and medically assisted reproduction: from research to clinical applications.

    Science.gov (United States)

    Harper, J C; Aittomäki, K; Borry, P; Cornel, M C; de Wert, G; Dondorp, W; Geraedts, J; Gianaroli, L; Ketterson, K; Liebaers, I; Lundin, K; Mertes, H; Morris, M; Pennings, G; Sermon, K; Spits, C; Soini, S; van Montfoort, A P A; Veiga, A; Vermeesch, J R; Viville, S; Macek, M

    2018-01-01

    Two leading European professional societies, the European Society of Human Genetics and the European Society for Human Reproduction and Embryology, have worked together since 2004 to evaluate the impact of fast research advances at the interface of assisted reproduction and genetics, including their application into clinical practice. In September 2016, the expert panel met for the third time. The topics discussed highlighted important issues covering the impacts of expanded carrier screening, direct-to-consumer genetic testing, voiding of the presumed anonymity of gamete donors by advanced genetic testing, advances in the research of genetic causes underlying male and female infertility, utilisation of massively parallel sequencing in preimplantation genetic testing and non-invasive prenatal screening, mitochondrial replacement in human oocytes, and additionally, issues related to cross-generational epigenetic inheritance following IVF and germline genome editing. The resulting paper represents a consensus of both professional societies involved.

  17. Additive genetic, non-additive genetic and permanent environmental effects for female reproductive performance in seasonal calving dairy females

    Directory of Open Access Journals (Sweden)

    Kelleher M.M.

    2016-06-01

    Full Text Available Excellent reproductive performance (i.e. 365-day calving interval is paramount to herd profit in seasonal-calving dairy systems. Reproductive targets are currently not being achieved in Irish dairy herds. Furthermore, most research on the genetics of reproductive performance in dairy cattle has focused primarily on lactating cows and relatively few studies have attempted to quantify the genetic contribution to differences in reproductive performance in nulliparae. The objective of the present study was to estimate the contribution of both the additive and non-additive genetic components, as well as the permanent environmental component, to phenotypic variation in the reproductive traits in nulliparous, primiparous and multiparous seasonal-calving dairy females. Reproductive phenotypes were available on up to 202,525 dairy females. Variance components were estimated using (repeatability where appropriate linear animal mixed models; fixed effects included in the mixed models were contemporary group, parity (where appropriate, breed proportion, inter-breed specific heterosis coefficients and inter-breed specific recombination loss coefficients. Heritability of the reproductive traits ranged from 0.004 (pregnancy rate to first service to 0.17 (age at first service in nulliparae, while repeatability estimates for the reproductive traits in cows ranged from 0.01 (calving interval to 0.11 (pregnant in the first 42 days of the breeding season. Breed-specific heterosis regression coefficients suggest that, relative to the parental mean, a first-cross Holstein–Jersey crossbred was almost 7 days younger at first calving, had a 9-day shorter calving interval, a 6 percentage unit greater pregnancy rate in the first 42 days of the breeding season and a 3 percentage unit greater survival rate to next lactation. Heifer calving rate traits were strongly genetically correlated with age at first calving (–0.97 to –0.66 and calving rate in the first 42 days

  18. [Genetic cancer syndromes and reproductive choice: dialogue between parents and politicians on preimplantation genetic diagnosis

    NARCIS (Netherlands)

    Niermeijer, M.F.; Die-Smulders, C.E.M. de; Page-Christiaens, G.C.; Wert, G.M.W.R. de

    2008-01-01

    Genetic cancer syndromes have identical clinical severity, limited therapeutic options, reduced life expectancy, and risks of genetic transmission, as do other genetic or congenital diseases for which prenatal genetic diagnosis or preimplantation genetic diagnosis (PGD) is allowed in the

  19. Genetic correlations between ewe reproduction and carcass and meat quality traits in Merino sheep.

    Science.gov (United States)

    Safari, E; Fogarty, N M; Hopkins, D L; Greeff, J C; Brien, F D; Atkins, K D; Mortimer, S I; Taylor, P J; van der Werf, J H J

    2008-12-01

    Genetic correlations between reproduction traits in ewes and carcass and meat quality traits in Merino rams were obtained using restricted maximum likelihood procedures. The carcass data were from 5870 Merino rams slaughtered at approximately 18 months of age that were the progeny of 543 sires from three research resource flocks over 7 years. The carcass traits included ultrasound scan fat and eye muscle depth (EMDUS) measured on live animals, dressing percentage and carcass tissue depth (at the GR site FATGR and C site FATC), eye muscle depth, width and area and the meat quality indicator traits of muscle final pH and colour (L*, a*, b*). The reproduction data consisted of 13 464 ewe joining records for number of lambs born and weaned and 9015 records for LS. The genetic correlations between reproduction and fat measurements were negative (range -0.06 +/- 0.12 to -0.37 +/- 0.12), with smaller correlations for live measurement than carcass traits. There were small favourable genetic correlations between reproduction traits and muscle depth in live rams (EMDUS, 0.10 +/- 0.12 to 0.20 +/- 0.12), although those with carcass muscle traits were close to zero. The reproduction traits were independent of meat colour L* (relative brightness), but tended to be favourably correlated with meat colour a* (relative redness, 0.12 +/- 0.17 to 0.19 +/- 0.16). There was a tendency for meat final pH to have small negative favourable genetic correlations with reproduction traits (0.05 +/- 0.11 to -0.17 +/- 0.12). This study indicates that there is no antagonism between reproduction traits and carcass and meat quality indicator traits, with scope for joint improvement of reproduction, carcass and meat quality traits in Merino sheep.

  20. Estimates of genetic and phenotypic parameters for reproductive traits in Iranian native Kordi sheep

    Directory of Open Access Journals (Sweden)

    Davoud Ali Saghi

    2017-07-01

    Full Text Available The data set for estimation of genetic and phenotypic parameters of reproductive traits in Kordi sheep were collected from 1996 to 2013. The reproductive traits included age at first lambing (AFL, number of lambs born (NLB/EL and weaned (NLW/EL per ewe in each lambing, total weight of lambs born (TWLB/EL and weaned (TWLW/EL per ewe in each lambing, total number of lambs born (TNLB and weaned (TNLW per ewe, total weight of lambs born (TWLB and weaned (TWLW per ewe. The genetic parameters were estimated through restricted maximum likelihood method using WOMBAT. The effects of environmental factors (year of lambing, type of birth, maternal age at lambing on all reproductive traits were significant (p < 0.01. Direct heritability, maternal heritability and the ratio of maternal permanent environmental variance to phenotypic variance for reproductive traits were estimated in the range from 0.07 to 0.18, 0.03 to 0.08 and 0.01 to 0.03, respectively. Genetic and phenotypic correlations between reproductive traits were estimated to be positive and within the range of 0.09 to 0.96 and 0.02 to 0.29, respectively. The results suggest that selection based on number of lambs born per ewe can be more effective than other traits in improving reproductive performance in Kordi ewes.

  1. Genetic relationship between boar taint compounds, human nose scores, and reproduction traits in pigs.

    Science.gov (United States)

    Mathur, P K; ten Napel, J; Crump, R E; Mulder, H A; Knol, E F

    2013-09-01

    A reduction in boar taint, an unpleasant odor arising in pork from some intact males, is desirable if routine castration of piglets needs to be stopped. Commercial slaughter pigs are typically crosses between sire lines mainly selected for finishing traits and dam lines mainly selected for reproduction traits. Previous studies suggest the possibility of reducing boar taint in sire lines due to favorable genetic correlations between boar taint and finishing traits. However, there are indications of unfavorable genetic associations between boar taint and female reproduction traits, but a lack of genetic correlation estimates remain a major roadblock in reducing boar taint in dam lines. This study was conducted to estimate genetic correlations between boar taint traits and female reproduction traits, investigate differences in these genetic relationships among sire and dam lines, and evaluate possible consequences of selection against boar taint in dam lines. The data consisted of 32,549 reproduction records from a Landrace dam line, 23,874 records from a Yorkshire dam line, and 3,745 records from a Pietrain sire line. Androstenone, skatole, and indole were measured on 1,896 carcasses, and human nose scores were recorded on 7,742 carcass samples. In general, the level of boar taint was significantly greater (P reproduction traits were either low or nonsignificant, except for those of skatole and indole, with age at first insemination in dam lines that were -0.32 and -0.46, respectively. Genetic correlations also differed (P reproduction traits only, boar taint traits only, and both boar taint and reproduction traits. Selection on an index of only reproduction traits increased the number of carcasses with boar taint from 4 to 7.3% in 5 generations. Selection on a combined index reduced carcasses with boar taint from 4 to reproduction traits. In markets for intact males, overall economic gain is 78% greater than with selection for reproduction only. Breeding programs

  2. Genetic variability and heritability studies of some reproductive traits ...

    African Journals Online (AJOL)

    The success of most crop improvement programs largely depends upon the genetic variability and the heritability of desirable traits. The magnitude and type of genetic variability help the breeder to determine the selection criteria and breeding schemes to be used for improvement purposes. A screen house experiment was ...

  3. No increase in autism-associated genetic events in children conceived by assisted reproduction.

    Science.gov (United States)

    Ackerman, Sean; Wenegrat, Julia; Rettew, David; Althoff, Robert; Bernier, Raphael

    2014-08-01

    To understand the rate of genetic events in patients with autism spectrum disorder (ASD) who were exposed to assisted reproduction. Case control study using genetics data. Twelve collaborating data collection sites across North America as part of the Simons Simplex Collection. 2,760 children with ASD, for whom 1,994 had published copy number variation data and 424 had published gene mutation status available. None. Rates of autism-associated genetic events in children with ASD conceived with assisted reproduction versus those conceived naturally. No statistically significant differences in copy number variations or autism-associated gene-disrupting events were found when comparing ASD patients exposed to assisted reproduction with those not exposed to assisted reproduction. This is the first large genetic association to concurrently examine the genotype of individuals with ASD in relation to their exposure to ART versus natural conception, and it adds reassuring evidence to the argument that ART does not increase the risk of ASD. Copyright © 2014 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  4. [Assisted Reproduction and Preimplantation Genetic Diagnosis in Patients Susceptible to Breast Cancer].

    Science.gov (United States)

    Veselá, K; Kocur, T; Horák, J; Horňák, M; Oráčová, E; Hromadová, L; Veselý, J; Trávník, P

    2016-01-01

    Assisted reproduction, as well as pregnancy itself, in patients with breast cancer or other hereditary type of cancer, is a widely discussed topic. In the past, patients treated for breast cancer were rarely involved in the discussion about reproductive possibilities or infertility treatment. However, current knowledge suggests, that breast cancer is neither a contraindication to pregnancy, nor to assisted reproduction techniques. On the contrary, assisted reproduction and preimplantation genetic diagnosis methods might prevent the transmission of genetic risks to the fetus. In this review we summarize data concerning pregnancy risks in patients with increased risk of breast cancer. In addition, we introduce current possibilities and approaches to fertility preservation prior to assisted reproduction treatment as well as novel methods improving the safety of fertility treatment. In the second part of this review, we focus on karyomapping--an advanced molecular genetic tool for elimination of germinal mutations in patients with predisposition to cancer. Moreover, the rapid development of preimplantation genetic diagnosis methods contributes to detection of both chromosomal aneuploidy and causal mutations in a relatively short time-span.

  5. Genetic and reproduction strategy in Crassostrea gigas mortality

    OpenAIRE

    Moal, Jeanne; Bedier, Edouard; Fleury, Pierre-gildas; Langlade, Aime; Le Coguic, Yvette; Degremont, Lionel; Boudry, Pierre; Le Coz, Jean-rene; Pouvreau, Stephane; Enriquez-diaz, M.; Lambert, Christophe; Quere, Christele; Soudant, Philippe; Samain, Jean-francois

    2003-01-01

    Bi-parental families were produced in hatchery and tested in the field in 2001. Two sets of 5 families were constituted, selected on their high (R) and low (S) survival. These two sets were reared in Brittany from March to November 2002. Samplings were performed twice a month to obtain data on biometry, survival, reproductive cycle, biochemical composition, adenylate energy charge, hemolymph parameters (ions and defense system) and muscle strength. "R" and "S" oysters exhibited different repr...

  6. Genetic relationships among traits related to reproduction and growth of Nelore females.

    Science.gov (United States)

    Eler, J P; Bignardi, A B; Ferraz, J B S; Santana, M L

    2014-09-15

    The objective of the study presented here was to analyze the genetic relationships among heifer pregnancy (HP), age at first calving (AFC), stayability (STAY), average annual productivity of the cow, in kilograms of weaned calf per cow per year (PRODAM), postweaning weight gain (PWG), and hip height (HH) of Nelore females from 12 Brazilian herds. (Co)variance components were obtained by six-trait animal model using Gibbs sampling. The posterior mean of the heritability estimates were 0.37, 0.18, 0.19, 0.16, 0.21, and 0.37 for HP, AFC, STAY, PRODAM, PWG, and HH, respectively. In general, the genetic correlations were strong between traits related to reproduction, for example, -0.85 between HP and AFC, and 0.94 between STAY and PRODAM. Weak genetic correlations were obtained between reproductive and growth traits (absolute values ranging from 0.02 to 0.30). Although weak, the genetic correlations between PWG and reproductive traits were favorable, whereas the genetic correlations between HH and reproductive traits were close to zero and slightly unfavorable for HP, AFC, and STAY. An increase of HH is therefore expected to have little or no negative effect on the reproductive performance of females. The posterior mean of genetic correlation between PWG and HH was moderate (0.50). On the basis of the heritability, genetic correlation estimates, and time to obtain data, HP and PRODAM seems to show the best potential as selection criteria to improve the productive and reproductive performance of Nelore females. In principle, it is possible to select for increased PWG without compromising the reproduction of Nelore females. However, selection for PWG may result in an increase of female HH as a correlated response, a fact that could increase management costs in advanced generations of selection. In the light of the results, all traits studied here can be used as selection criteria and there is no strong evidence of genetic antagonism among traits related to reproduction

  7. Reproductive ecology and genetic variability in natural populations of the wild potato, Solanum kurtzianum.

    Science.gov (United States)

    Marfil, C F; Masuelli, R W

    2014-03-01

    The cultivated potato (Solanum tuberosum ssp. tuberosum) has more than 200 related wild species distributed along the Andes, adapted to a wide range of geographical and ecological areas. Since the last century, several collection expeditions were carried out to incorporate genetic variability into the potato germplasm around the world. However, little is known about the reproductive ecology and genetic population structure of natural potato population from field studies. The aim of this work is to study, in the field, the genetic variability and reproductive strategies of populations of one of the most widely distributed potato species in Argentina, Solanum kurtzianum, growing in Mendoza province. AFLP markers showed that the genetic variability is mainly present among plants within populations, indicating that in the sampled populations, sexual reproduction is more relevant than clonal multiplication (by tubers). Additional evidence was obtained evaluating the genetic diversity in populations with a distribution in patches, where several genotypes were always detected. From a field study performed in the Villavicencio Natural Reserve, we found that the average number of plump seeds per fruit was 94.3, identified and calculated the foraging distance of four insect pollinators, and demonstrated the seed dispersal by storm water channels. We argue that the breeding system, the two modes of reproduction and the ecological interaction described here may have a prominent role in determining the genetic structure of S. kurtzianum populations, and discuss the importance of field studies on population genetics, reproductive biology and ecology to design collections and conservation strategies. © 2013 German Botanical Society and The Royal Botanical Society of the Netherlands.

  8. Consequences for conservation: population density and genetic effects on reproduction of an endangered lagomorph.

    Science.gov (United States)

    Demay, Stephanie M; Becker, Penny A; Waits, Lisette P; Johnson, Timothy R; Rachlow, Janet L

    2016-04-01

    Understanding reproduction and mating systems is important for managers tasked with conserving vulnerable species. Genetic tools allow biologists to investigate reproduction and mating systems with high resolution and are particularly useful for species that are otherwise difficult to study in their natural environments. We conducted parentage analyses using 19 nuclear DNA microsatellite loci to assess the influence of population density, genetic diversity, and ancestry on reproduction, and to examine the mating system of pygmy rabbits (Brachylagus idahoensis) bred in large naturalized enclosures for the reintroduction and recovery of the endangered distinct population in central Washington, USA. Reproductive output for females and males decreased as population density and individual homozygosity increased. We identified an interaction indicating that male reproductive output decreased as genetic diversity declined at high population densities, but there was no effect at low densities. Males with high amounts (> 50%) of Washington ancestry had higher reproductive output than the other ancestry groups, while reproductive output was decreased for males with high northern Utah/Wyoming ancestry and females with high Oregon/Nevada ancestry. Females and males bred with an average of 3.8 and 3.6 mates per year, respectively, and we found no evidence of positive or negative assortative mating with regards to ancestry. Multiple paternity was confirmed in 81% of litters, and we report the first documented cases of juvenile breeding by pygmy rabbits. This study demonstrates how variation in population density, genetic diversity, and ancestry impact fitness for an endangered species being bred for conservation. Our results advance understanding of basic life history characteristics for a cryptic species that is difficult to study in the wild and provide lessons for managing populations of vulnerable species in captive and free-ranging populations.

  9. Use of preimplantation genetic diagnosis and preimplantation genetic screening in the United States: a Society for Assisted Reproductive Technology Writing Group paper.

    Science.gov (United States)

    Ginsburg, Elizabeth S; Baker, Valerie L; Racowsky, Catherine; Wantman, Ethan; Goldfarb, James; Stern, Judy E

    2011-10-01

    To comprehensively report Society for Assisted Reproductive Technology (SART) member program usage of preimplantation genetic testing (PGT), preimplantation genetic diagnosis (PGD) for diagnosis of specific conditions, and preimplantation genetic screening for aneuploidy (PGS). Retrospective study. United States SART cohort data. Women undergoing a PGT cycle in which at least one embryo underwent biopsy. PGT. PGT use, indications, and delivery rates. Of 190,260 fresh, nondonor assisted reproductive technology (ART) cycles reported to SART CORS in 2007-2008, 8,337 included PGT. Of 6,971 cycles with a defined indication, 1,382 cycles were for genetic diagnosis, 3,645 for aneuploidy screening (PGS), 527 for translocation, and 1,417 for elective sex election. Although the total number of fresh, autologous cycles increased by 3.6% from 2007 to 2008, the percentage of cycles with PGT decreased by 5.8% (4,293 in 2007 and 4,044 in 2008). As a percentage of fresh, nondonor ART cycles, use dropped from 4.6% (4,293/93,433) in 2007 to 4.2% (4,044/96,827) in 2008. The primary indication for PGT was PGS: cycles performed for this indication decreased (-8.0%). PGD use for single-gene defects (+3.2%), elective sex selection (+5.3%), and translocation analysis (+0.5%) increased. PGT usage varied significantly by geographical region. PGT usage in the United States decreased between 2007 and 2008 owing to a decrease in PGS. Use of elective sex selection increased. High transfer cancellation rates correlated with reduced live-birth rates for some PGT indications. Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  10. Genetic control of complex traits, with a focus on reproduction in pigs.

    Science.gov (United States)

    Zak, Louisa J; Gaustad, Ann Helen; Bolarin, Alfonso; Broekhuijse, Marleen L W J; Walling, Grant A; Knol, Egbert F

    2017-09-01

    Reproductive traits are complex, and desirable reproductive phenotypes, such as litter size or semen quality, are true polygenetic traits determined by multiple gene regulatory pathways. Each individual gene contributes to the overall variation in these traits, so genetic improvements can be achieved using conventional selection methodology. In the past, a pedigree-based-relationship matrix was used; this is now replaced by a combination of pedigree-based- and genomic-relationship matrices. The heritability of reproductive traits is low to moderate, so large-scale data recording is required to identify specific, selectable attributes. Male reproductive traits-including ejaculate volume and sperm progressive motility-are moderately heritable, and could be used in selection programs. A few high-merit artificial-insemination boars can impact many sow populations, so additional knowledge about male reproduction-specifically pre-pubertal detection of infertility and the technologies of semen cryopreservation and sex sorting-should further improve global breeding efforts. Conversely, female pig reproduction is currently a limiting factor of genetic improvement. Litter size and farrowing interval are the main obstacles to increasing selection intensity and to reducing generation interval in a breeding program. Age at puberty and weaning-to-estrus interval can be selected for, thereby reducing the number of non-productive days. The number of piglets born alive and litter weights are also reliably influenced by genetic selection. Characterization of genotype-environment interactions will provide opportunities to match genetics to specific farm systems. Continued investment to understand physiological models for improved phenotyping and the development of technologies to facilitate pig embryo production for genetic selection are warranted to ensure optimal breeding in future generations. © 2017 Wiley Periodicals, Inc.

  11. Invited review: Reproductive and genomic technologies to optimize breeding strategies for genetic progress in dairy cattle

    Directory of Open Access Journals (Sweden)

    A. Fleming

    2018-01-01

    Full Text Available Dairy cattle breeders have exploited technological advances that have emerged in the past in regards to reproduction and genomics. The implementation of such technologies in routine breeding programs has permitted genetic gains in traditional milk production traits as well as, more recently, in low-heritability traits like health and fertility. As demand for dairy products increases, it is important for dairy breeders to optimize the use of available technologies and to consider the many emerging technologies that are currently being investigated in various fields. Here we review a number of technologies that have helped shape dairy breeding programs in the past and present, along with those potentially forthcoming. These tools have materialized in the areas of reproduction, genotyping and sequencing, genetic modification, and epigenetics. Although many of these technologies bring encouraging opportunities for genetic improvement of dairy cattle populations, their applications and benefits need to be weighed with their impacts on economics, genetic diversity, and society.

  12. Facultative asexual reproduction and genetic diversity of populations in the humivorous termite Cavitermes tuberosus

    Czech Academy of Sciences Publication Activity Database

    Fournier, D.; Hellemans, S.; Hanus, Robert; Roisin, Y.

    2016-01-01

    Roč. 283, č. 1832 (2016), č. článku 20160196. ISSN 0962-8452 R&D Projects: GA ČR(CZ) GA14-12774S Institutional support: RVO:61388963 Keywords : thelytokous parthenogenesis * breeding systems * termites * reproductive strategies * Isoptera * Termitidae Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 4.940, year: 2016

  13. The potential of cryopreservation and reproductive technologies for animal genetic resources conservation strategies

    NARCIS (Netherlands)

    Hiemstra, S.J.; Lende, van der T.; Woelders, H.

    2006-01-01

    This chapter focuses on ex situ conservation. An overview of the state of the art cryopreservation and reproductive technology for farm animals and fish is followed by a discussion on the implications of ex situ conservation strategies. Ex situ conservation of genetic material from livestock and

  14. Genetic mapping of quantitative trait loci for aseasonal reproduction in sheep.

    Science.gov (United States)

    Mateescu, R G; Thonney, M L

    2010-10-01

    The productivity and economic prosperity of sheep farming could benefit greatly from more effective methods of selection for year-round lambing. Identification of QTL for aseasonal reproduction in sheep could lead to more accurate selection and faster genetic improvement. One hundred and twenty microsatellite markers were genotyped on 159 backcross ewes from a Dorset × East Friesian crossbred pedigree. Interval mapping was undertaken to map the QTL underlying several traits describing aseasonal reproduction including the number of oestrous cycles, maximum level of progesterone prior to breeding, pregnancy status determined by progesterone level, pregnancy status determined by ultrasound, lambing status and number of lambs born. Seven chromosomes (1, 3, 12, 17, 19, 20 and 24) were identified to harbour putative QTL for one or more component traits used to describe aseasonal reproduction. Ovine chromosomes 12, 17, 19 and 24 harbour QTL significant at the 5% chromosome-wide level, chromosomes 3 and 20 harbour QTL that exceeded the threshold at the 1% chromosome-wide level, while the QTL identified on chromosome 1 exceeded the 1% experiment-wide significance level. These results are a first step towards understanding the genetic mechanism of this complex trait and show that variation in aseasonal reproduction is associated with multiple chromosomal regions. © 2010 The Authors, Animal Genetics © 2010 Stichting International Foundation for Animal Genetics.

  15. Genetic and phenotypic variation of some reproductive traits in ...

    African Journals Online (AJOL)

    The objectives of this study were to determine the effects of season, year of calving and parity on lactation period, calving interval, number of days open and dry period in Egyptian buffalo, and to estimate genetic and phenotypic parameters for these traits using a multi-trait animal model. Season of calving, year of calving ...

  16. Genetic and phenotypic variation of some reproductive traits in ...

    African Journals Online (AJOL)

    Unknown

    1Department of Animal Production, Faculty of Agriculture, Alexandria University, Alexandria, Egypt; 2 Department of. Animal Science ... genetic and phenotypic parameters for these traits using a multi-trait animal model. Season of calving, year ... were evaluated using the Duncan Multiple Range Test (Steel & Torrie, 1980).

  17. Genetic parameters for reproductive traits in a beef cattle herd ...

    African Journals Online (AJOL)

    Unknown

    South African Society of Animal Science. The South African Journal of Animal Science is available online at http://www.sasas.co.za/Sajas.html. 42 were to assess and to estimate heritabilities for and genetic correlations between CI, CD and AFC in a multibreed beef cattle herd using multitrait analysis, and to evaluate a ...

  18. Genetic analysis of reproductive performance of Frieswal cattle at Military Farm, Ambala

    Directory of Open Access Journals (Sweden)

    Jagdeep Kumar

    2015-09-01

    Full Text Available Aim: This study was carried out to investigate the genetic analysis of reproductive performance of Frieswal cattle at Military Farm, Ambala. Materials and Methods: A total number of 3005 lactation records of 1147 Frieswal cows over a period of 15 years extending from 1993 to 2007 were used to study at Military Dairy Farm, Ambala. The study period was divided into 5 period of 3 years each. The average performances of reproduction traits, effect of genetic and non-genetic factors were analyzed, and estimation of genetic and phenotypic parameters of reproduction traits was undertaken. Results: The age at first calving (AFC differed significantly across the periods of calving. The AFC was lowest during the third period (1999-2001 and longest in the first period (1993-95. The effect of season and period of calving, lactation order and regression of AFC on dry period, calving interval and service period was highly significant. The effect of sire was non-significant. The heritability estimates were low for almost all the traits under study. The service period had a high genetic correlation with dry period and calving interval. The dry period also found to have a low genetic correlation with calving interval in Frieswal cows. Service period had a high phenotypic correlation with dry period and very high with a calving interval. The phenotypic correlation between the dry period and calving interval was recognized high. Conclusions: Low heritability estimate for the reproduction traits indicates that there is a very little additive genetic variance in these traits, and individual selection will not be helpful for improving them. Improvement may be brought through better feeding and management of cows by reducing the environmental variability.

  19. Population genetic variation in the tree fern Alsophila spinulosa (Cyatheaceae: effects of reproductive strategy.

    Directory of Open Access Journals (Sweden)

    Ting Wang

    Full Text Available BACKGROUND: Essentially all ferns can perform both sexual and asexual reproduction. Their populations represent suitable study objects to test the population genetic effects of different reproductive systems. Using the diploid homosporous fern Alsophila spinulosa as an example species, the main purpose of this study was to assess the relative impact of sexual and asexual reproduction on the level and structure of population genetic variation. METHODOLOGY/PRINCIPAL FINDINGS: Inter-simple sequence repeats analysis was conducted on 140 individuals collected from seven populations (HSG, LCH, BPC, MPG, GX, LD, and ZHG in China. Seventy-four polymorphic bands discriminated a total of 127 multilocus genotypes. Character compatibility analysis revealed that 50.0 to 70.0% of the genotypes had to be deleted in order to obtain a tree-like structure in the data set from populations HSG, LCH, MPG, BPC, GX, and LD; and there was a gradual decrease of conflict in the data set when genotypes with the highest incompatibility counts were successively deleted. In contrast, in population ZHG, only 33.3% of genotypes had to be removed to achieve complete compatibility in the data set, which showed a sharp decline in incompatibility upon the deletion of those genotypes. All populations examined possessed similar levels of genetic variation. Population ZHG was not found to be more differentiated than the other populations. CONCLUSIONS/SIGNIFICANCE: Sexual recombination is the predominant source of genetic variation in most of the examined populations of A. spinulosa. However, somatic mutation contributes most to the genetic variation in population ZHG. This change of the primary mode of reproduction does not cause a significant difference in the population genetic composition. Character compatibility analysis represents an effective approach to separate the role of sexual and asexual components in shaping the genetic pattern of fern populations.

  20. Genetic Parameters of Reproductive and Meat Quality Traits in Korean Berkshire Pigs

    Directory of Open Access Journals (Sweden)

    Joon-Ho Lee

    2015-10-01

    Full Text Available Genetic parameters of Berkshire pigs for reproduction, carcass and meat quality traits were estimated using the records from a breeding farm in Korea. For reproduction traits, 2,457 records of the total number of piglets born (TNB and the number of piglets born alive (NBA from 781 sows and 53 sires were used. For two carcass traits which are carcass weight (CW and backfat thickness (BF and for 10 meat quality traits which are pH value after 45 minutes (pH45m, pH value after 24 hours (pH24h, lightness in meat color (LMC, redness in meat color (RMC, yellowness in meat color (YMC, moisture holding capacity (MHC, drip loss (DL, cooking loss (CL, fat content (FC, and shear force value (SH, 1,942 pig records were used to estimate genetic parameters. The genetic parameters for each trait were estimated using VCE program with animal model. Heritability estimates for reproduction traits TNB and NBA were 0.07 and 0.06, respectively, for carcass traits CW and BF were 0.37 and 0.57, respectively and for meat traits pH45m, pH24h, LMC, RMC, YMC, MHC, DL, CL, FC, and SH were 0.48, 0.15, 0.19, 0.36, 0.28, 0.21, 0.33, 0.45, 0.43, and 0.39, respectively. The estimate for genetic correlation coefficient between CW and BF was 0.27. The Genetic correlation between pH24h and meat color traits were in the range of −0.51 to −0.33 and between pH24h and DL and SH were −0.41 and −0.32, respectively. The estimates for genetic correlation coefficients between reproductive and meat quality traits were very low or zero. However, the estimates for genetic correlation coefficients between reproductive traits and drip and cooking loss were in the range of 0.12 to 0.17 and −0.14 to −0.12, respectively. As the estimated heritability of meat quality traits showed medium to high heritability, these traits may be applicable for the genetic improvement by continuous measurement. However, since some of the meat quality traits showed negative genetic correlations with

  1. Spatiotemporal Heterogeneity Characterizes the Genetic Landscape of Pheochromocytoma and Defines Early Events in Tumorigenesis.

    Science.gov (United States)

    Crona, Joakim; Backman, Samuel; Maharjan, Rajani; Mayrhofer, Markus; Stålberg, Peter; Isaksson, Anders; Hellman, Per; Björklund, Peyman

    2015-10-01

    Pheochromocytoma and paraganglioma (PPGL) patients display heterogeneity in the clinical presentation and underlying genetic cause. The degree of inter- and intratumor genetic heterogeneity has not yet been defined. In PPGLs from 94 patients, we analyzed LOH, copy-number variations, and mutation status of SDHA, SDHB, SDHC, SDHD, SDHAF2, VHL, EPAS1, NF1, RET, TMEM127, MAX, and HRAS using high-density SNP array and targeted deep sequencing, respectively. Genetic heterogeneity was determined through (i) bioinformatics analysis of individual samples that estimated absolute purity and ploidy from SNP array data and (ii) comparison of paired tumor samples that allowed reconstruction of phylogenetic trees. Mutations were found in 61% of the tumors and correlated with specific patterns of somatic copy-number aberrations (SCNA) and degree of nontumoral cell admixture. Intratumor genetic heterogeneity was observed in 74 of 136 samples using absolute bioinformatics estimations and in 22 of 24 patients by comparison of paired samples. In addition, a low genetic concordance was observed between paired primary tumors and distant metastases. This allowed for reconstructing the life history of individual tumors, identifying somatic mutations as well as copy-number loss of 3p and 11p (VHL subgroup), 1p (Cluster 2), and 17q (NF1 subgroup) as early events in PPGL tumorigenesis. Genomic landscapes of PPGL are specific to mutation subtype and characterized by genetic heterogeneity both within and between tumor lesions of the same patient. ©2015 American Association for Cancer Research.

  2. Strong spatial genetic structure reduces reproductive success in the critically endangered plant genus Pseudomisopates.

    Science.gov (United States)

    Amat, María E; Silvertown, Jonathan; Vargas, Pablo

    2013-01-01

    Clonal growth can be a double-edged sword for endangered species, because the short-term insurance against extinction may incur a longer-term hazard of creating small inbred populations with low fecundity. In the present study, we quantify the advantages and disadvantages of clonal growth regarding the fitness of the central Iberian monotypic endangered genus Pseudomisopates. Preliminary studies showed that the species is self-incompatible and exhibits extensive clonal growth with plants flowering profusely. However, seeds at many sites seemed to be unviable, and no seedlings have been observed in the field. A fully replicated nested sampling design (n = 100) was conducted to explore genetic (using seven SSR loci) and environmental factors potentially affecting seed viability, such as: 1) clonal and genetic diversity, 2) spatial genetic structure, and 3) environmental factors (shrub cover and grazing). Generalized Linear Mixed Models were fitted relating genetic and environmental variables to reproductive variables (seed viability and flower display). Our results indicate that the relatively low genotypic diversity of the population (PD = 0.23), as quantified by SSRs, and the strong spatial genetic structure observed are congruent with intense clonal growth. This clonal growth is enhanced by unfavorable environmental conditions, such as canopy closure and grazing. Under these circumstances, both flower display and mate availability decrease, thus hindering sexual reproduction. Indeed, a mixed reproductive system (clonal and sexual) to escape environmental stochasticity is crucial for the survival of Pseudomisopates, a species inhabiting a disturbance-prone ecosystem.

  3. Evidence for the evolution of bdelloid rotifers without sexual reproduction or genetic exchange.

    Science.gov (United States)

    Mark Welch, D; Meselson, M

    2000-05-19

    The Class Bdelloidea of the Phylum Rotifera is the largest metazoan taxon in which males, hermaphrodites, and meiosis are unknown. We conducted a molecular genetic test of this indication that bdelloid rotifers may have evolved without sexual reproduction or genetic exchange. The test is based on the expectation that after millions of years without these processes, genomes will no longer contain pairs of closely similar haplotypes and instead will contain highly divergent descendants of formerly allelic nucleotide sequences. We find that genomes of individual bdelloid rotifers, representing four different species, appear to lack pairs of closely similar sequences and contain representatives of two ancient lineages that began to diverge before the bdelloid radiation many millions of years ago when sexual reproduction and genetic exchange may have ceased.

  4. Genomic testing interacts with reproductive surplus in reducing genetic lag and increasing economic net return

    DEFF Research Database (Denmark)

    Hjortø, Line; Ettema, Jehan Frans; Kargo, Morten

    2015-01-01

    simulates the parity distribution of the dams of heifer calves. The ADAM program estimates genetic merit per year in a herd under different strategies for use of sexed semen and genomic tests. The annual net return per slot was calculated as the sum of operational return and value of genetic lag minus costs......Until now, genomic information has mainly been used to improve the accuracy of genomic breeding values for breeding animals at a population level. However, we hypothesize that the use of information from genotyped females also opens up the possibility of reducing genetic lag in a dairy herd......, especially if genomic tests are used in combination with sexed semen or a high management level for reproductive performance, because both factors provide the opportunity for generating a reproductive surplus in the herd. In this study, sexed semen is used in combination with beef semen to produce high-value...

  5. Sports selection of volley-ball players: genetic criteria to define motor endowments (information 2

    Directory of Open Access Journals (Sweden)

    Alisa Ablikova

    2016-04-01

    Full Text Available Purpose: to define genetic criteria which can be used while selecting gifted volley-ball players. Material & Methods: the study involved 50 high class volley-ball players and 50 women at the age of 20–29 years old. There were used methods of theoretical analysis and general conclusion, systematic analysis, genealogic methods of genetics, methods of dermatoglyphic and serologic analyses. Results: family gift for going in for sport was detected. At was revealed that gifted volley-ball players had peculiar finger tips prints and distribution of blood groups: the system AB0 in comparison with the total population. Conclusions: the obtained quantitative characteristics of finger dermatoglyphic, some blood groups and rhesus-factor as genetic markers of motor endowments of volley-ball players are proposed.

  6. Effect of clonal reproduction on genetic structure in Pentaclethra macroloba (Fabaceae: Mimosoideae

    Directory of Open Access Journals (Sweden)

    Keith D. Gaddis

    2014-08-01

    Full Text Available The existence of monodominant forests on well-drained soils in tropical regions has been widely reported. Such forests most likely result from a combination of both ecological and evolutionary factors. Under conditions of high seed and seedling mortality, vegetative reproduction could create a reproductive advantage leading to forest dominance, and profoundly affect the distribution of genetic variation in a clonal species. We investigated these effects in a low diversity forest site in Northeastern Costa Rica dominated by the species Pentaclethra macroloba, which sprouts from the root mass of fallen trees and from snapped trunks. We examined the population structure of juvenile P. macroloba growing in different soil types and across an elevational gradient. Using seven molecular markers, we genotyped 173 juvenile P. macroloba from 18 plots (six plots in seasonally inundated swamps, and 12 plots in upland non-swamp spanning 50-300m in elevation at La Selva Biological Station and the adjacent Reserva Ecológica Bijagual in Northeastern Costa Rica. We answered two specific questions: (1 How extensive is clonal reproduction? and (2 what is the distribution of genetic diversity and structure?. We found that clonal reproduction occurred exclusively within inundated swamp areas. However, there was no significant difference between genetic diversity measures in swamp and non-swamp plots, which were both generally low when compared with other tropical forest species. Genetic structure was significant across all plots (F ST=0.109. However, genetic structure among swamp plots (F ST=0.128 was higher than among non-swamp upland plots (F ST=0.093. Additionally, spatial autocorrelation among individuals within non-swamp upland plots was significant from the 25 to 100m spatial scale, but not within swamp plots. The degree of overall genetic structure we found in P. macroloba is high for a tropical forest tree. The incidence of clonal reproduction is a

  7. Genetic control of host resistance to porcine reproductive and respiratory syndrome virus (PRRSV) infection

    Science.gov (United States)

    This manuscript focuses on the advances made using genomic approaches to identify biomarkers that define genes and pathways that are correlated with swine resistance to infection with porcine reproductive and respiratory syndrome virus (PRRSV), the most economically important swine viral pathogen wo...

  8. Genetic correlations between body weight change and reproduction traits in Merino ewes depend on age.

    Science.gov (United States)

    Rose, G; Mulder, H A; van der Werf, J H J; Thompson, A N; van Arendonk, J A M

    2014-08-01

    Merino sheep in Australia experience periods of variable feed supply. Merino sheep can be bred to be more resilient to this variation by losing less BW when grazing poor quality pasture and gaining more BW when grazing good quality pasture. Therefore, selection on BW change might be economically attractive but correlations with other traits in the breeding objective need to be known. The genetic correlations (rg) between BW, BW change, and reproduction were estimated using records from approximately 7,350 fully pedigreed Merino ewes managed at Katanning in Western Australia. Number of lambs and total weight of lambs born and weaned were measured on approximately 5,300 2-yr-old ewes, approximately 4,900 3-yr-old ewes, and approximately 3,600 4-yr-old ewes. On a proportion of these ewes BW change was measured: approximately 1,950 2-yr-old ewes, approximately 1,500 3-yr-old ewes, and approximately 1,100 4-yr-old ewes. The BW measurements were for 3 periods. The first period was during mating period over 42 d on poor pasture. The second period was during pregnancy over 90 d for ewes that got pregnant on poor and medium quality pasture. The third period was during lactation over 130 d for ewes that weaned a lamb on good quality pasture. Genetic correlations between weight change and reproduction were estimated within age classes. Genetic correlations were tested to be significantly greater magnitude than 0 using likelihood ratio tests. Nearly all BW had significant positive genetic correlations with all reproduction traits. In 2-yr-old ewes, BW change during the mating period had a positive genetic correlation with number of lambs weaned (rg = 0.58); BW change during pregnancy had a positive genetic correlation with total weight of lambs born (rg = 0.33) and a negative genetic correlation with number of lambs weaned (rg = -0.49). All other genetic correlations were not significantly greater magnitude than 0 but estimates of genetic correlations for 3-yr-old ewes were

  9. Achievement of genetics in plant reproduction research: the past decade for the coming decade.

    Science.gov (United States)

    Suwabe, Keita; Suzuki, Go; Watanabe, Masao

    2010-01-01

    In the last decade, a variety of innovations of emerging technologies in science have been accomplished. Advanced research environment in plant science has made it possible to obtain whole genome sequence in plant species. But now we recognize this by itself is not sufficient to understand the overall biological significance. Since Gregor Mendel established a principle of genetics, known as Mendel's Laws of Inheritance, genetics plays a prominent role in life science, and this aspect is indispensable even in modern plant biology. In this review, we focus on achievements of genetics on plant sexual reproduction research in the last decade and discuss the role of genetics for the coming decade. It is our hope that this will shed light on the importance of genetics in plant biology and provide valuable information to plant biologists.

  10. Genetic structure of the population with rheumatoid arthritis in north east England: a genetic approach to define different subtypes.

    Science.gov (United States)

    Papiha, S S; Lanchbury, J S; Pal, B

    1986-11-01

    Clinically and immunologically rheumatoid arthritis (RA) is possibly a heterogeneous disorder. Despite numerous efforts clearer definition of this heterogeneity has been of limited success. Measurements of rheumatoid factor (RF) and antinuclear antibodies (ANA) by conventional methods define subpopulations of patients with RA and in a few recent studies an association of human leucocyte antigens (HLA) undoubtedly indicates the immunogenetic differences in the susceptibility of RA patients with different status of autoantibodies. The studies on a few isolated non-HLA genetic markers in RA are controversial. To understand the role of genetic factors in susceptibility 24 single gene characters other than HLA were investigated in 225 patients with RA classified by humoral status (presence or absence of RF and ANA) into three groups and in 104 healthy control individuals from the north east of England. Locus by locus comparison suggested associations of MN, Lewis, and Bf system with RF positive patients. Although the associations with MN and Lewis blood groups require further investigations, the involvement of the Bf locus is in agreement with the immunological component of the disease suggested by HLA associations and it could be due to the phenomenon of linkage disequilibrium. Measures of genetic distance applied to the subpopulations of patients with RA, divided according to the presence or absence of humoral factors, suggest that RF+ ANA+, RF- ANA-, and RF+ ANA- subgroups are distinct genetic diseases, each affecting a different subsection of the population which is genetically distinct. Such genetic heterogeneity may suggest a different pathogenetic mechanism for each of these subpopulations of rheumatoid arthritis.

  11. Small population size limits reproduction in an invasive grass through both demography and genetics.

    Science.gov (United States)

    Firestone, Jeffrey L; Jasieniuk, Marie

    2013-05-01

    Small populations of founding individuals or survivors of incomplete management programs often represent critical transitions in biological invasions. Theory predicts that population size affects reproduction and, consequently, a population's expansion, but there are few empirical tests, and fewer that account for the reduced genetic diversity that often accompanies small population size. We created experimental small populations of invasive ryegrass (Lolium multiflorum) with population size varying independently from genetic diversity. Treatment independence was achieved by cloning plants to increase population size without changing diversity. Plant fitness was measured as the proportion of florets producing a seed. We analyzed the effects of population size, genetic diversity, and their interaction using ANCOVAs, one of which accounted for variation in individual plant growth. As predicted, smaller populations produced significantly lower proportion seed set. Low genetic diversity also reduced seed set, but this was best interpreted as part of a significant interaction with population size. Specifically, the effect of population size on the proportion seed set was over five times larger for populations in the medium genetic diversity treatment than the highest diversity treatment, and 6.7 times larger for populations with the lowest level of diversity. Population size variation had biologically meaningful consequences, as the rate of seed set within the low diversity treatment increased by 80 % with increasing population size. The results indicate that both the demographics and genetics of populations can influence reproduction and invasive potential, and must be considered when assessing risk and designing management plans for invasive plants.

  12. Demographic and genetic connectivity: the role and consequences of reproduction, dispersal and recruitment in seagrasses.

    Science.gov (United States)

    Kendrick, Gary A; Orth, Robert J; Statton, John; Hovey, Renae; Ruiz Montoya, Leonardo; Lowe, Ryan J; Krauss, Siegfried L; Sinclair, Elizabeth A

    2017-05-01

    Accurate estimation of connectivity among populations is fundamental for determining the drivers of population resilience, genetic diversity, adaptation and speciation. However the separation and quantification of contemporary versus historical connectivity remains a major challenge. This review focuses on marine angiosperms, seagrasses, that are fundamental to the health and productivity of temperate and tropical coastal marine environments globally. Our objective is to understand better the role of sexual reproduction and recruitment in influencing demographic and genetic connectivity among seagrass populations through an integrated multidisciplinary assessment of our present ecological, genetic, and demographic understanding, with hydrodynamic modelling of transport. We investigate (i) the demographic consequences of sexual reproduction, dispersal and recruitment in seagrasses, (ii) contemporary transport of seagrass pollen, fruits and seed, and vegetative fragments with a focus on hydrodynamic and particle transport models, and (iii) contemporary genetic connectivity among seagrass meadows as inferred through the application of genetic markers. New approaches are reviewed, followed by a summary outlining future directions for research: integrating seascape genetic approaches; incorporating hydrodynamic modelling for dispersal of pollen, seeds and vegetative fragments; integrating studies across broader geographic ranges; and incorporating non-equilibrium modelling. These approaches will lead to a more integrated understanding of the role of contemporary dispersal and recruitment in the persistence and evolution of seagrasses. © 2016 Cambridge Philosophical Society.

  13. High incidence of monozygotic twinning after assisted reproduction is related to genetic information, but not to assisted reproduction technology itself.

    Science.gov (United States)

    Sobek, Aleš; Zbořilová, Blažena; Procházka, Martin; Šilhánová, Eva; Koutná, Olga; Klásková, Eva; Tkadlec, Emil; Sobek, Aleš

    2015-03-01

    To study the incidence of monozygotic twinning (MZT) in patients using in vitro fertilization, relative to their age, genetic background, ovarian function, and assisted reproductive techniques used. Analysis of a collected database. Infertility treatment center. A total of 1,876 patients receiving infertility treatment between 2000 and 2012. Pregnancies with monozygotic twins (A: 23) were compared with deliveries of dizygotic twins (B: 423), singleton pregnancies (C: 880), and aborted pregnancies (D: 389). None. A genetic survey on multiple pregnancies in the extended family. Measures were micromanipulation technique, the length of embryo cultivation, type of cultivation media, basal follicle-stimulating hormone level, estradiol level on the day of human chorionic gonadotropin administration, number of oocytes, total consumption of gonadotropins, and consumption of gonadotropins needed for recovery of 1 oocyte. No differences were found between the incidence of MZT in cycles that did vs. did not use micromanipulation techniques. In addition, the length of embryo cultivation or type of cultivation media used did not affect the results. Estradiol levels and implantation rates were significantly higher in group A. The incidence of MZT in families in group A was significantly higher than that in groups B and C. We propose that the high incidence of MZT in infertility-clinic patients is conditioned by hereditary factors, and good ovarian function only facilitates the expression. The resulting recommendation is that young women with a positive family history and good ovarian function undergo elective single-embryo transfer, and proper counseling is advisable. Copyright © 2015 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  14. Divergent selection on, but no genetic conflict over, female and male timing and rate of reproduction in a human population.

    Science.gov (United States)

    Bolund, Elisabeth; Bouwhuis, Sandra; Pettay, Jenni E; Lummaa, Virpi

    2013-12-07

    The sexes often have different phenotypic optima for important life-history traits, and because of a largely shared genome this can lead to a conflict over trait expression. In mammals, the obligate costs of reproduction are higher for females, making reproductive timing and rate especially liable to conflict between the sexes. While studies from wild vertebrates support such sexual conflict, it remains unexplored in humans. We used a pedigreed human population from preindustrial Finland to estimate sexual conflict over age at first and last reproduction, reproductive lifespan and reproductive rate. We found that the phenotypic selection gradients differed between the sexes. We next established significant heritabilities in both sexes for all traits. All traits, except reproductive rate, showed strongly positive intersexual genetic correlations and were strongly genetically correlated with fitness in both sexes. Moreover, the genetic correlations with fitness were almost identical in men and women. For reproductive rate, the intersexual correlation and the correlation with fitness were weaker but again similar between the sexes. Thus, in this population, an apparent sexual conflict at the phenotypic level did not reflect an underlying genetic conflict over the studied reproductive traits. These findings emphasize the need for incorporating genetic perspectives into studies of human life-history evolution.

  15. PHENOTYPIC PLASTICITY IN CHRYSOPERLA: GENETIC VARIATION IN THE SENSORY MECHANISM AND IN CORRELATED REPRODUCTIVE TRAITS.

    Science.gov (United States)

    Tauber, Catherine A; Tauber, Maurice J

    1992-12-01

    A genetically variable sensory mechanism provides phenotypic plasticity in the seasonal cycle of the Chrysoperla carnea species-complex of green lacewings. The mechanism functions as a switch during the pupal and early imaginal stages to determine aestival reproduction versus aestival dormancy, and it has two major components: (1) response to photoperiod and (2) response to a stimulus(i) associated with the prey of the larvae. Ultimately, the switch is based on the response to photoperiod-an all-or-nothing trait whose variation (long-day reproduction versus a short-day/long-day requirement for reproduction) is determined by alleles at two unlinked autosomal loci. In eastern North America, variation in this component of the switch differentiates two reproductively isolated "species" that are sympatric throughout the region: Chrysoperla carnea, in which both loci are homozygous for the dominant alleles that determine long-day, spring and summer reproduction and thus multivoltinism, and C. downesi, which has a very high incidence of the recessive alleles for the short-day/long-day requirement, and thus univoltine spring breeding. In contrast, geographical populations in western North America harbor variable amounts of within-and among-family genetic variation for the photoperiodic responses and also for the switch's second component-adult responsiveness to the prey of the larvae. The geographic pattern of genetic variation in the two components of the switch indicates that it is a highly integrated adaptation to environmental heterogeneity. Expression of among-family variation in the prey component of the switch is highly dependent on photoperiodic conditions and genotype (it requires a constant long daylength and the recessive short-day/long-day genotype). Thus, we infer that responsiveness to prey evolved as a modifier of the photoperiodic trait. The switch has a significant negative effect on a major determinant of fitness; it lengthens the preoviposition period in

  16. Recloned transgenic pigs possess normal reproductive performance and stable genetic transmission capacity.

    Science.gov (United States)

    Cao, Zubing; Li, Yan; Wen, Xiao; Li, Zhiyuan; Mi, Changsheng; Zhang, Zaihu; Li, Ning; Li, Qiuyan

    2014-02-01

    The present study investigated whether a recloning procedure would affect the reproductive performance or the germline transmission capacity of recloned transgenic pigs. This study has also laid the foundation for the development of elite transgenic swine breeds in the future. Recloned transgenic pigs were developed from ear tissue fibroblasts of primary transgenic cloned pigs using a recloning procedure, and their reproductive performance and exogenous gene transmission were analyzed. Two transgenic cell lines with different genetic backgrounds (derived from a female miniature pig and a male Landrace pig) with stable expression of green fluorescent protein (GFP) were established successfully. Furthermore, recloned transgenic embryos were developed to full term successfully. One female Chinese experimental miniature piglet (CEMP) (GFP+) and three male Landrace piglets (GFP+) were delivered naturally. Furthermore, the index values for the reproductive characteristics of the recloned transgenic pigs, such as puberty, gestation period, sperm volume and sperm concentration, were not significantly different from those of conventionally bred pigs. In addition, 53% of the F1 offspring of the recloned transgenic pigs were GFP positive. These results demonstrate that ear tissue fibroblasts from primary transgenic cloned pigs efficiently support the full-term development of recloned transgenic embryos. Furthermore, recloned transgenic pigs maintain normal reproductive performance and stable germline (genetic) transmission capacities.

  17. Unmanaged sexual reproduction and the dynamics of genetic diversity of a vegetatively propagated crop plant, cassava (Manihot esculenta Crantz), in a traditional farming system.

    Science.gov (United States)

    Elias, M; Penet, L; Vindry, P; McKey, D; Panaud, O; Robert, T

    2001-08-01

    Occurrence of intervarietal or interspecific natural crosses has been reported for many crop plants in traditional farming systems, underlining the potential importance of this source of genetic exchange for the dynamics of genetic diversity of crop plants. In this study, we use microsatellite loci to investigate the role of volunteer seedlings (plants originating from unmanaged sexual reproduction) in the dynamics of genetic diversity of cassava (Manihot esculenta Crantz), a vegetatively propagated crop, in a traditional farming system in Guyana. A previous field study showed that farmers incorporate such plants into the germplasm for vegetative propagation, and that many of them are likely to be assigned by farmers to recognized varieties. Under strict vegetative propagation clonality of varieties is expected. The high proportion of polyclonal varieties observed suggests that incorporation of seedlings into the germplasm for propagation is a frequent event. The molecular variability assessed with microsatellite markers shows that there is high differentiation among heterozygous varieties, whereas populations of seedlings do not depart from the proportions expected under Hardy-Weinberg assumptions. Assignment of seedlings to a recognized variety on the basis of morphological similarity greatly increases genetic diversity within the variety. We argue that recombination and gene flow play a major role in the dynamics of genetic diversity of cassava in traditional farming systems. Documenting unmanaged sexual reproduction and its genetic consequences is a prerequisite for defining strategies of in situ conservation of crop plant genetic resources.

  18. reproduction

    African Journals Online (AJOL)

    progress in terms of increasing healthy live births but decreasing multiple pregnancy rates.10. Development of assisted reproduction techniques. Alternatives to IVF and transcervical embryo transfer. Over the years IVF treatment has seen many modifications, and other options have been introduced. Prepared sperm may be ...

  19. reproduction

    African Journals Online (AJOL)

    Examination ofHurnan Semen and Semen-Cervical Mucus. Interaction.20 Furthermore, organisations such as the. WHO and the European Society of Human Reproduction and Embryology (ESHRE) now set up international training courses aiming at global standardisation. Micromanipulation of gametes and male infertility.

  20. Genetic Associations Between Personality Traits and Lifetime Reproductive Success in Humans.

    Science.gov (United States)

    Berg, Venla; Lummaa, Virpi; Rickard, Ian J; Silventoinen, Karri; Kaprio, Jaakko; Jokela, Markus

    2016-11-01

    Personality has been associated with reproductive success in humans and other animals, suggesting potential evolutionary selection pressures. However, studies to date have only examined these associations on a phenotypic level, which may be inadequate in estimating evolutionary change. Using a large longitudinal twin dataset of contemporary Finns, we compared the phenotypic (breeder's equation) and genetically informed (the Robertson-Price identity) associations between lifetime reproductive success (LRS) and two personality traits-neuroticism and extraversion. Neuroticism was not associated with LRS at the phenotypic nor genetic level, while extraversion was associated with higher LRS in men both phenotypically and genetically. Compared to the univariate phenotypic analysis, the genetic analysis suggested a larger selection response of extraversion, and a selection response of neuroticism due to indirect selection. We estimated that neuroticism decreases by .05 standard deviations and extraversion increases by .11 standard deviations by one generation. Our results highlight the importance of considering genetic associations between personality and fitness and investigating several inter-related personality traits and their covariance with each other to predict responses to selection more accurately.

  1. GENETIC PARAMETER ESTIMATES FOR PRODUCTION AND REPRODUCTION TRAITS IN DAIRY BUFFALOES

    Directory of Open Access Journals (Sweden)

    CAMILA DA COSTA BARROS

    2016-01-01

    Full Text Available The objective of this study was to determine the genetic variation in milk production, milk components, and reproductive traits in dairy buffaloes. A total of 9,318 lactation records from 3,061 cows were used to estimate the heritability of milk yield (MY, fat percentage (%F, protein percentage (%P, lactation length (LL, calving interval (CI, and age at first calving (AFC, as well as genetic and phenotypic correlations between these traits. Covariance components were estimated by Bayesian inference in a multitrait animal model using the GIBBS2F90 program. Contemporary groups and number of milkings (1 or 2 were included as fixed effects, age of dam at calving (linear and quadratic effects as a covariate, and additive genetic , permanent environmental, and residual effects as random effects. The heritability estimates (± standard deviation were 0.24 ± 0.02, 0.34 ± 0.05, 0.40 ± 0.05, 0.09 ± 0.01, 0.05 ± 0.01, and 0.16 ± 0.04 for MY, %F, %P, LL, CI, and AFC, respectively. The genetic correlations between MY and %F, %P, LL, CI, and AFC were - 0.29, - 0.18, 0.66, 0.08, and 0.24, respectively. Milk production and milk components showed sufficient genetic variation to obtain genetic gains through selection. The genetic correlations between MY and milk components were negative, and thus, undesirable because efforts to increase MY may decrease milk quality . Reproductive traits had little genetic influence, indicating that improvement of management would be sufficient to obtain better performance.

  2. Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic concept

    Science.gov (United States)

    Hamshere, M. L.; Green, E. K.; Jones, I. R.; Jones, L.; Moskvina, V.; Kirov, G.; Grozeva, D.; Nikolov, I.; Vukcevic, D.; Caesar, S.; Gordon-Smith, K.; Fraser, C.; Russell, E.; Breen, G.; St Clair, D.; Collier, D. A.; Young, A. H.; Ferrier, I. N.; Farmer, A.; McGuffin, P.; Holmans, P. A.; Owen, M. J.; O’Donovan, M. C.; Craddock, N.

    2009-01-01

    Background Psychiatric phenotypes are currently defined according to sets of descriptive criteria. Although many of these phenotypes are heritable, it would be useful to know whether any of the various diagnostic categories in current use identify cases that are particularly helpful for biological–genetic research. Aims To use genome-wide genetic association data to explore the relative genetic utility of seven different descriptive operational diagnostic categories relevant to bipolar illness within a large UK case–control bipolar disorder sample. Method We analysed our previously published Wellcome Trust Case Control Consortium (WTCCC) bipolar disorder genome-wide association data-set, comprising 1868 individuals with bipolar disorder and 2938 controls genotyped for 276 122 single nucleotide polymorphisms (SNPs) that met stringent criteria for genotype quality. For each SNP we performed a test of association (bipolar disorder group v. control group) and used the number of associated independent SNPs statistically significant at Pdisorder: Research Diagnostic Criteria (RDC): bipolar I disorder; manic disorder; bipolar II disorder; schizoaffective disorder, bipolar type; DSM–IV: bipolar I disorder; bipolar II disorder; schizoaffective disorder, bipolar type. Results The RDC schizoaffective disorder, bipolar type (v. controls) stood out from the other diagnostic subsets as having a significant excess of independent association signals (Pdisorder group data-set. The strongest association in this subset of participants with bipolar disorder was at rs4818065 (P = 2.42×10–7). Biological systems implicated included gamma amniobutyric acid (GABA)A receptors. Genes having at least one associated polymorphism at Pschizoaffective features have either a particularly strong genetic contribution or that, as a group, are genetically more homogeneous than the other phenotypes tested. The results point to the importance of using diagnostic approaches that recognise this

  3. Genetic architecture of threshold reaction norms for male alternative reproductive tactics in Atlantic salmon (Salmo salar L.)

    National Research Council Canada - National Science Library

    Olivier Lepais; Aurélie Manicki; Stéphane Glise; Mathieu Buoro; Agnès Bardonnet

    2017-01-01

    .... Here, we study the genetic effect and architecture of the variability in reproductive tactics among Atlantic salmon males which can either mature sexually early in life in freshwater or more commonly...

  4. Estimation of genetic parameters for traits associated with reproduction, lactation, and efficiency in sows.

    Science.gov (United States)

    Thekkoot, D M; Kemp, R A; Rothschild, M F; Plastow, G S; Dekkers, J C M

    2016-11-01

    Increased milk production due to high litter size, coupled with low feed intake, results in excessive mobilization of sow body reserves during lactation, which can have detrimental effects on future reproductive performance. A possibility to prevent this is to improve sow lactation performance genetically, along with other traits of interest. The aim of this study was to estimate breed-specific genetic parameters (by parity, between parities, and across parities) for traits associated with lactation and reproduction in Yorkshire and Landrace sows. Performance data were available for 2,107 sows with 1 to 3 parities (3,424 farrowings total). Sow back fat, loin depth and BW at farrowing, sow feed intake (SFI), and body weight loss (BWL) during lactation showed moderate heritabilities (0.21 to 0.37) in both breeds, whereas back fat loss (BFL), loin depth loss (LDL), and litter weight gain (LWG) showed low heritabilities (0.12 to 0.18). Among the efficiency traits, sow lactation efficiency showed extremely low heritability (near zero) in Yorkshire sows but a slightly higher (0.05) estimate in Landrace sows, whereas sow residual feed intake (SRFI) and energy balance traits showed moderate heritabilities in both breeds. Genetic correlations indicated that SFI during lactation had strong negative genetic correlations with body resource mobilization traits (BWL, BFL, and LDL; -0.35 to -0.70), and tissue mobilization traits in turn had strong positive genetic correlations with LWG (+0.24 to +0.54; < 0.05). However, SFI did not have a significant genetic correlation with LWG. These genetic correlations suggest that SFI during lactation is predominantly used for reducing sow body tissue losses, rather than for milk production. Estimates of genetic correlations for the same trait measured in parities 1 and 2 ranged from 0.64 to 0.98, which suggests that first and later parities should be treated as genetically different for some traits. Genetic correlations estimated between

  5. Malignant transformation of non-neoplastic Barrett's epithelial cells through well-defined genetic manipulations.

    Directory of Open Access Journals (Sweden)

    Xi Zhang

    2010-09-01

    Full Text Available Human Barrett's cancer cell lines have numerous, poorly-characterized genetic abnormalities and, consequently, those lines have limited utility as models for studying the early molecular events in carcinogenesis. Cell lines with well-defined genetic lesions that recapitulate various stages of neoplastic progression in Barrett's esophagus would be most useful for such studies.To develop such model cell lines, we started with telomerase-immortalized, non-neoplastic Barrett's epithelial (BAR-T cells, which are spontaneously deficient in p16, and proceeded to knock down p53 using RNAi, to activate Ras by introducing oncogenic H-Ras(G12V, or both. BAR-T cells infected with either p53 RNAi or oncogenic H-Ras(G12V alone maintained cell-to-cell contact inhibition and did not exhibit anchorage-independent growth in soft agar. In contrast, the combination of p53 RNAi knockdown with expression of oncogenic H-Ras(G12V transformed the p16-deficient BAR-T cells, as evidenced by their loss of contact inhibition, by their formation of colonies in soft agar, and by their generation of tumors in immunodeficient mice.Through these experiments, we have generated a number of transformed and non-transformed cell lines with well-characterized genetic abnormalities recapitulating various stages of carcinogenesis in Barrett's esophagus. These lines should be useful models for the study of carcinogenesis in Barrett's esophagus, and for testing the efficacy of chemopreventive and chemotherapeutic agents.

  6. Imaging Voltage in Genetically Defined Neuronal Subpopulations with a Cre Recombinase-Targeted Hybrid Voltage Sensor.

    Science.gov (United States)

    Bayguinov, Peter O; Ma, Yihe; Gao, Yu; Zhao, Xinyu; Jackson, Meyer B

    2017-09-20

    Genetically encoded voltage indicators create an opportunity to monitor electrical activity in defined sets of neurons as they participate in the complex patterns of coordinated electrical activity that underlie nervous system function. Taking full advantage of genetically encoded voltage indicators requires a generalized strategy for targeting the probe to genetically defined populations of cells. To this end, we have generated a mouse line with an optimized hybrid voltage sensor (hVOS) probe within a locus designed for efficient Cre recombinase-dependent expression. Crossing this mouse with Cre drivers generated double transgenics expressing hVOS probe in GABAergic, parvalbumin, and calretinin interneurons, as well as hilar mossy cells, new adult-born neurons, and recently active neurons. In each case, imaging in brain slices from male or female animals revealed electrically evoked optical signals from multiple individual neurons in single trials. These imaging experiments revealed action potentials, dynamic aspects of dendritic integration, and trial-to-trial fluctuations in response latency. The rapid time response of hVOS imaging revealed action potentials with high temporal fidelity, and enabled accurate measurements of spike half-widths characteristic of each cell type. Simultaneous recording of rapid voltage changes in multiple neurons with a common genetic signature offers a powerful approach to the study of neural circuit function and the investigation of how neural networks encode, process, and store information. SIGNIFICANCE STATEMENT Genetically encoded voltage indicators hold great promise in the study of neural circuitry, but realizing their full potential depends on targeting the sensor to distinct cell types. Here we present a new mouse line that expresses a hybrid optical voltage sensor under the control of Cre recombinase. Crossing this line with Cre drivers generated double-transgenic mice, which express this sensor in targeted cell types. In

  7. Male Reproductive Disorders and Fertility Trends: Influences of Environment and Genetic Susceptibility

    Science.gov (United States)

    Skakkebaek, Niels E.; Rajpert-De Meyts, Ewa; Buck Louis, Germaine M.; Toppari, Jorma; Andersson, Anna-Maria; Eisenberg, Michael L.; Jensen, Tina Kold; Jørgensen, Niels; Swan, Shanna H.; Sapra, Katherine J.; Ziebe, Søren; Priskorn, Lærke; Juul, Anders

    2015-01-01

    It is predicted that Japan and European Union will soon experience appreciable decreases in their populations due to persistently low total fertility rates (TFR) below replacement level (2.1 child per woman). In the United States, where TFR has also declined, there are ethnic differences. Caucasians have rates below replacement, while TFRs among African-Americans and Hispanics are higher. We review possible links between TFR and trends in a range of male reproductive problems, including testicular cancer, disorders of sex development, cryptorchidism, hypospadias, low testosterone levels, poor semen quality, childlessness, changed sex ratio, and increasing demand for assisted reproductive techniques. We present evidence that several adult male reproductive problems arise in utero and are signs of testicular dysgenesis syndrome (TDS). Although TDS might result from genetic mutations, recent evidence suggests that it most often is related to environmental exposures of the fetal testis. However, environmental factors can also affect the adult endocrine system. Based on our review of genetic and environmental factors, we conclude that environmental exposures arising from modern lifestyle, rather than genetics, are the most important factors in the observed trends. These environmental factors might act either directly or via epigenetic mechanisms. In the latter case, the effects of exposures might have an impact for several generations post-exposure. In conclusion, there is an urgent need to prioritize research in reproductive physiology and pathophysiology, particularly in highly industrialized countries facing decreasing populations. We highlight a number of topics that need attention by researchers in human physiology, pathophysiology, environmental health sciences, and demography. PMID:26582516

  8. Heritability of rectal temperature and genetic correlations with production and reproduction traits in dairy cattle.

    Science.gov (United States)

    Dikmen, S; Cole, J B; Null, D J; Hansen, P J

    2012-06-01

    Genetic selection for body temperature during heat stress might be a useful approach to reduce the magnitude of heat stress effects on production and reproduction. Objectives of the study were to estimate the genetic parameters of rectal temperature (RT) in dairy cows in freestall barns under heat stress conditions and to determine the genetic and phenotypic correlations of rectal temperature with other traits. Afternoon RT were measured in a total of 1,695 lactating Holstein cows sired by 509 bulls during the summer in North Florida. Genetic parameters were estimated with Gibbs sampling, and best linear unbiased predictions of breeding values were predicted using an animal model. The heritability of RT was estimated to be 0.17 ± 0.13. Predicted transmitting abilities for rectal temperature changed 0.0068 ± 0.0020°C/yr from (birth year) 2002 to 2008. Approximate genetic correlations between RT and 305-d milk, fat, and protein yields, productive life, and net merit were significant and positive, whereas approximate genetic correlations between RT and somatic cell count score and daughter pregnancy rate were significant and negative. Rectal temperature during heat stress has moderate heritability, but genetic correlations with economically important traits mean that selection for RT could lead to lower productivity unless methods are used to identify genes affecting RT that do not adversely affect other traits of economic importance. Copyright © 2012 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

  9. A geographical genetics framework for inferring homing reproductive behavior in fishes.

    Science.gov (United States)

    de Campos Telles, Mariana Pires; Collevatti, Rosane Garcia; da Costa, Marcio Candido; Barthem, Ronaldo Borges; da Silva, Nelson Jorge; Neto, Advaldo Carlos Souza; Diniz-Filho, José Alexandre Felizola

    2011-02-01

    One of the most intriguing patterns of migration and gene flow that affects genetic structure is the reproductive homing behavior of fishes, wherein the adults return to the areas in which they were spawned. Here we reviewed the literature on homing behavior in fish and propose an analytical framework for testing hypotheses regarding this behavior and its effects on the genetic structure of fish in an explicit geographical context, using a geographical genetics toolbox. Although disentangling the many potential causes underlying genetic population structure and unambiguously demonstrating that the homing behavior causes these genetic patterns is difficult, our framework allows the successive testing of homing behavior with increasing levels of complexity based on the following: (1) establishment of population structures among waterheads; (2) patterns of genetic variability throughout the adult migratory pool; (3) analyses of the non-migratory adult pool; and (4) comparisons among successive generations. We expect that the framework presented here will help delineating the appropriate uses of different sampling designs to make inferences regarding homing behavior and illustrate the limits imposed by the interpretation of different types of genetic data. More importantly, we hope this framework enables researchers to understand how a particular dataset can be utilized in a broader context as an ongoing part of a larger research program and thus guide future research by developing better and more integrated sampling designs.

  10. Discriminating between the effects of founding events and reproductive mode on the genetic structure of Triops populations (Branchiopoda: Notostraca).

    Science.gov (United States)

    Horn, Rebekah L; Kuehn, Ralph; Drechsel, Victoria; Cowley, David E

    2014-01-01

    Crustaceans that initially colonize a freshwater temporary pond can strongly bias the subsequent genetic composition of the population, causing nearby populations to be genetically distinct. In addition, these crustaceans have various reproductive modes that can influence genetic differentiation and diversity within and between populations. We report on two species of tadpole shrimp, Triops newberryi and Triops longicaudatus "short", with different reproductive modes. Reproduction in the tadpole shrimp can occur clonally (parthenogenesis), with self fertilization (hermaphroditism), or through outcrossing of hermaphrodites with males (androdioecy). For all these reproductive modes, population genetic theory predicts decreased genetic diversity and increased population differentiation. Here we use mitochondrial control region (mtCR) sequences and nuclear microsatellite loci to determine if the difference in reproductive mode affects the high genetic structure typical of persistent founder effects. Previous authors indicated that T. newberryi is androdioecious because populations are composed of hermaphrodites and males, and T. longicaudatus "short" is hermaphroditic or parthenogenetic because males are absent. In our data, T. newberryi and T. longicaudatus "short" populations were highly structured genetically over short geographic distances for mtCR sequences and microsatellite loci (T. newberryi: ΦST = 0.644, FST = 0.252, respectively; T. l. "short": invariant mtCR sequences, FST = 0.600). Differences between the two Triops species in a number of diversity measures were generally consistent with expectations from population genetic theory regarding reproductive mode; however, three of four comparisons were not statistically significant. We conclude the high genetic differentiation between populations is likely due to founder effects and results suggest both species are composed of selfing hermaphrodites with some level of outcrossing; the presence of

  11. Antineutrophil antibodies define clinical and genetic subgroups in primary sclerosing cholangitis.

    Science.gov (United States)

    Hov, Johannes R; Boberg, Kirsten M; Taraldsrud, Eli; Vesterhus, Mette; Boyadzhieva, Maria; Solberg, Inger Camilla; Schrumpf, Erik; Vatn, Morten H; Lie, Benedicte A; Molberg, Øyvind; Karlsen, Tom H

    2017-03-01

    The strongest genetic risk factors in primary sclerosing cholangitis (PSC) are encoded in the HLA complex. Antineutrophil cytoplasmic antibodies (ANCA) have been reported in up to 94% of PSC patients, but their clinical significance and immunogenetic basis are ill defined. We aimed to characterize clinical and genetic associations of ANCA in PSC. Antineutrophil cytoplasmic antibodies were analysed with indirect immunofluorescence in 241 Norwegian PSC patients. HLA-B and HLA-DRB1 genotyping was performed in the patients and in 368 healthy controls. Data on perinuclear ANCA (pANCA) and HLA-DRB1 were available from 274 ulcerative colitis (UC) patients without known liver disease. Antineutrophil cytoplasmic antibodies were found in 193 (80%) of the PSC patients, with pANCA in 169 (70%). ANCA-positive patients were younger than ANCA negative at diagnosis of PSC and had a lower frequency of biliary cancer (9% vs 19%, P=.047). There were no differences between PSC patients with and without inflammatory bowel disease. Genetically, the strong PSC risk factors HLA-B*08 (frequency in healthy 13%) and DRB1*03 (14%) were more prevalent in ANCA-positive than -negative patients (43% vs 25%, P=.0012 and 43% vs 25%, P=.0015 respectively). The results were similar when restricting the analysis to pANCA-positive patients. In UC patients without liver disease, HLA-DRB1*03 was more prevalent in pANCA-positive compared with -negative patients (P=.03). Antineutrophil cytoplasmic antibodies identified PSC patients with particular clinical and genetic characteristics, suggesting that ANCA may mark a clinically relevant pathogenetic subgroup in the PSC-UC disease spectrum. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  12. Comprehensive dissection of PDGF-PDGFR signaling pathways in PDGFR genetically defined cells.

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    Erxi Wu

    Full Text Available Despite the growing understanding of pdgf signaling, studies of pdgf function have encountered two major obstacles: the functional redundancy of PDGFRalpha and PDGFRbeta in vitro and their distinct roles in vivo. Here we used wild-type mouse embryonic fibroblasts (MEF, MEF null for either PDGFRalpha, beta, or both to dissect PDGF-PDGFR signaling pathways. These four PDGFR genetically defined cells provided us a platform to study the relative contributions of the pathways triggered by the two PDGF receptors. They were treated with PDGF-BB and analyzed for differential gene expression, in vitro proliferation and differential response to pharmacological effects. No genes were differentially expressed in the double null cells, suggesting minimal receptor-independent signaling. Protean differentiation and proliferation pathways are commonly regulated by PDGFRalpha, PDGFRbeta and PDGFRalpha/beta while each receptor is also responsible for regulating unique signaling pathways. Furthermore, some signaling is solely modulated through heterodimeric PDGFRalpha/beta.

  13. Macro- and microgeographic genetic structure in an ant species with alternative reproductive tactics in sexuals.

    Science.gov (United States)

    Foitzik, S; Rüger, M H; Kureck, I M; Metzler, D

    2011-12-01

    The genetic structure of social insect populations is influenced by their social organization and dispersal modes. The ant Hypoponera opacior shows diverse reproductive behaviours with regular cycles of outbreeding via winged sexuals and inbreeding via within-nest mating wingless sexuals that reproduce by budding. This unusual life cycle should be reflected in the genetic population structure, and we studied this on different scales using microsatellites. On a macrogeographic scale, populations were considerably structured and migration rates within the Chiricahuas were higher than those in between mountain ranges. On a local scale, our analyses revealed population viscosity through dependent colony foundation and a high genetic diversity with a multicolonial structure. The latter was also evident from recognition trials revealing consistent aggression between non-nestmates. Within-nest matings led to high inbreeding coefficients. Finally, the observed seasonal changes in relatedness can be explained by variation in queen number and differential dispersal of the two reproductive morphs. © 2011 The Authors. Journal of Evolutionary Biology © 2011 European Society For Evolutionary Biology.

  14. Defining genes using "blueprint" versus "instruction" metaphors: effects for genetic determinism, response efficacy, and perceived control.

    Science.gov (United States)

    Parrott, Roxanne; Smith, Rachel A

    2014-01-01

    Evidence supports mixed attributions aligned with personal and/or clinical control and gene expression for health in this era of genomic science and health care. We consider variance in these attributions and possible relationships to individual mind sets associated with essentialist beliefs that genes determine health versus threat beliefs that genes increase susceptibility for disease and severity linked to gene-environment interactions. Further, we contribute to theory and empirical research to evaluate the use of metaphors to define genes. Participants (N = 324) read a message that varied the introduction by providing a definition of genes that used either an "instruction" metaphor or a "blueprint" metaphor. The "instruction" metaphor compared to the "blueprint" metaphor promoted stronger threat perceptions, which aligned with both belief in the response efficacy of genetic research for health and perceived behavioral control linked to genes and health. The "blueprint" metaphor compared to the "instruction" metaphor promoted stronger essentialist beliefs, which aligned with more intense positive regard for the efficacy of genetic research and human health. Implications for health communicators include societal effects aligned with stigma and discrimination that such findings portend.

  15. Reproduction at the extremes: pseudovivipary, hybridization and genetic mosaicism in Posidonia australis (Posidoniaceae).

    Science.gov (United States)

    Sinclair, Elizabeth A; Statton, John; Hovey, Renae; Anthony, Janet M; Dixon, Kingsley W; Kendrick, Gary A

    2016-02-01

    Organisms occupying the edges of natural geographical ranges usually survive at the extreme limits of their innate physiological tolerances. Extreme and prolonged fluctuations in environmental conditions, often associated with climate change and exacerbated at species' geographical range edges, are known to trigger alternative responses in reproduction. This study reports the first observations of adventitious inflorescence-derived plantlet formation in the marine angiosperm Posidonia australis, growing at the northern range edge (upper thermal and salinity tolerance) in Shark Bay, Western Australia. These novel plantlets are described and a combination of microsatellite DNA markers and flow cytometry is used to determine their origin. Polymorphic microsatellite DNA markers were used to generate multilocus genotypes to determine the origin of the adventitious inflorescence-derived plantlets. Ploidy and genome size were estimated using flow cytometry. All adventitious plantlets were genetically identical to the maternal plant and were therefore the product of a novel pseudoviviparous reproductive event. It was found that 87 % of the multilocus genotypes contained three alleles in at least one locus. Ploidy was identical in all sampled plants. The genome size (2 C value) for samples from Shark Bay and from a separate site much further south was not significantly different, implying they are the same ploidy level and ruling out a complete genome duplication (polyploidy). Survival at range edges often sees the development of novel responses in the struggle for survival and reproduction. This study documents a physiological response at the trailing edge, whereby reproductive strategy can adapt to fluctuating conditions and suggests that the lower-than-usual water temperature triggered unfertilized inflorescences to 'switch' to growing plantlets that were adventitious clones of their maternal parent. This may have important long-term implications as both genetic and

  16. Genetic data, reproduction season and reproductive strategy data support the existence of biological species in Ophioderma longicauda.

    Science.gov (United States)

    Weber, Alexandra Anh-Thu; Stöhr, Sabine; Chenuil, Anne

    2014-10-01

    Cryptic species are numerous in the marine environment. The brittle star Ophioderma longicauda is composed of six mitochondrial lineages, encompassing brooders, which form a monophyletic group, and broadcasters, from which the brooders are derived. To clarify the species limits within O. longicauda, we compared the reproductive status of the sympatric lineages L1 and L3 (defined after sequencing a portion of the mitochondrial gene COI) during the month of May in Greece. In addition, we genotyped a nuclear marker, intron i51. Each L3 female was brooding, whereas all L1 specimens displayed full gonads, suggesting temporal pre-zygotic isolation between brooders and broadcasters. Statistical differences were found among lineages in morphology and bathymetric distribution. Finally, the intron i51 was polymorphic in L1 (60 individuals), but monomorphic in L3 (109 individuals), confirming the absence of gene flow between brooders and broadcasters. In conclusion, the broadcasting lineage L1 and the brooding lineage L3 are different biological species. Copyright © 2014 Académie des sciences. Published by Elsevier SAS. All rights reserved.

  17. Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy.

    Science.gov (United States)

    Harper, Joyce; Geraedts, Joep; Borry, Pascal; Cornel, Martina C; Dondorp, Wybo J; Gianaroli, Luca; Harton, Gary; Milachich, Tanya; Kääriäinen, Helena; Liebaers, Inge; Morris, Michael; Sequeiros, Jorge; Sermon, Karen; Shenfield, Françoise; Skirton, Heather; Soini, Sirpa; Spits, Claudia; Veiga, Anna; Vermeesch, Joris Robert; Viville, Stéphane; de Wert, Guido; Macek, Milan

    2014-08-01

    How has the interface between genetics and assisted reproduction technology (ART) evolved since 2005? The interface between ART and genetics has become more entwined as we increase our understanding about the genetics of infertility and we are able to perform more comprehensive genetic testing. In March 2005, a group of experts from the European Society of Human Genetics and European Society of Human Reproduction and Embryology met to discuss the interface between genetics and ART and published an extended background paper, recommendations and two Editorials. An interdisciplinary workshop was held, involving representatives of both professional societies and experts from the European Union Eurogentest2 Coordination Action Project. In March 2012, a group of experts from the European Society of Human Genetics, the European Society of Human Reproduction and Embryology and the EuroGentest2 Coordination Action Project met to discuss developments at the interface between clinical genetics and ART. As more genetic causes of reproductive failure are now recognized and an increasing number of patients undergo testing of their genome prior to conception, either in regular health care or in the context of direct-to-consumer testing, the need for genetic counselling and PGD may increase. Preimplantation genetic screening (PGS) thus far does not have evidence from RCTs to substantiate that the technique is both effective and efficient. Whole genome sequencing may create greater challenges both in the technological and interpretational domains, and requires further reflection about the ethics of genetic testing in ART and PGD/PGS. Diagnostic laboratories should be reporting their results according to internationally accepted accreditation standards (ISO 15189). Further studies are needed in order to address issues related to the impact of ART on epigenetic reprogramming of the early embryo. The legal landscape regarding assisted reproduction is evolving, but still remains very

  18. Defining management units for cetaceans by combining genetics, morphology, acoustics and satellite tracking

    Directory of Open Access Journals (Sweden)

    Signe Sveegaard

    2015-01-01

    Full Text Available Managing animal units is essential in biological conservation and requires spatial and temporal identification of such units. Since even neighbouring populations often have different conservation status and face different levels of anthropogenic pressure, detailed knowledge of population structure, seasonal range and overlap with animals from neighbouring populations is required to manage each unit separately. Previous studies on genetic structure and morphologic separation suggests three distinct populations of harbour porpoises with limited geographic overlap in the North Sea (NS, the Belt Sea (BS and the Baltic Proper (BP region. In this study, we aim to identify a management unit for the BS population of harbour porpoises. We use Argos satellite data and genetics from biopsies of tagged harbour porpoises as well as acoustic data from 40 passive acoustic data loggers to determine management areas with the least overlap between populations and thus the least error when abundance and population status is estimated. Discriminant analysis of the satellite tracking data from the BS and NS populations showed that the best fit of the management unit border during the summer months was an east–west line from Denmark to Sweden at latitude 56.95°N. For the border between BS and BP, satellite tracking data indicate a sharp decline in population density at 13.5°E, with 90% of the locations being west of this line. This was supported by the acoustic data with the average daily detection rate being 27.5 times higher west of 13.5°E as compared to east of 13.5°E. By using this novel multidisciplinary approach, we defined a management unit for the BS harbour porpoise population. We recommend that these boundaries are used for future monitoring efforts of this population under the EU directives. The boundaries may also be used for conservation efforts during the summer months, while seasonal movements of harbour porpoises should be considered during

  19. Genetic evaluation of reproduction performance of Jersey × Red Sindhi crossbred cows

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    S. Vinothraj

    2016-09-01

    Full Text Available Aim: The present investigation was undertaken to study the reproduction performance and effect of non-genetic factors on reproduction performance of Jersey crossbred cows. Materials and Methods: Data on 355 Jersey crossbred cattle maintained at the Post-graduate Research Institute in Animal Sciences, Kattupakkam, Tamil Nadu, distributed over 30 years (1985 to 2014. The effect of various non-genetic factors including the period of birth, season of birth, period of calving, season of calving and parity were analyzed through least-squares analyses using univariate general linear model. The different (covariance components for calculation of genetic parameters were estimated using restricted maximum likelihood method by fitting an animal model. Results: The overall least-squares means (±standard error of age at first service, age at first calving, weight at first calving, service period, calving interval, dry period, and number of services per conception were 848.06±9.72 days, 1204±12.20 days, 289.81±1.71 kg, 210.01±6.41 days, 489.12±6.45 days, 137.96±5.58 days, 2.50±0.07, respectively. Period of calving had either significant (p<0.05 or highly significant (p<0.01 effect on all reproduction traits studied except service period, calving interval, and dry period. Number of services per conception was affected by season of calving. Parity had significant influence (p<0.05 or highly significant (p<0.01 influence on all the traits studied except service period and dry period. Heritability estimates of age at first service, age at first calving, weight at first calving, service period, calving interval, dry period, and number of services per conception were 0.299, 0.220, 0.017, 0.142, 0.222, 0.177, and 0.042, respectively. The estimates of repeatability for service period, calving interval, dry period, and number of services per conception were 0.219, 0.234, 0.420, and 0.001, respectively. Conclusions: The reproduction performances of Jersey

  20. Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy. European Society of Human Genetics and European Society of Human Reproduction and Embryology.

    Science.gov (United States)

    Harper, Joyce C; Geraedts, Joep; Borry, Pascal; Cornel, Martina C; Dondorp, Wybo; Gianaroli, Luca; Harton, Gary; Milachich, Tanya; Kääriäinen, Helena; Liebaers, Inge; Morris, Michael; Sequeiros, Jorge; Sermon, Karen; Shenfield, Françoise; Skirton, Heather; Soini, Sirpa; Spits, Claudia; Veiga, Anna; Vermeesch, Joris Robert; Viville, Stéphane; de Wert, Guido; Macek, Milan

    2013-11-01

    In March 2005, a group of experts from the European Society of Human Genetics and European Society of Human Reproduction and Embryology met to discuss the interface between genetics and assisted reproductive technology (ART), and published an extended background paper, recommendations and two Editorials. Seven years later, in March 2012, a follow-up interdisciplinary workshop was held, involving representatives of both professional societies, including experts from the European Union Eurogentest2 Coordination Action Project. The main goal of this meeting was to discuss developments at the interface between clinical genetics and ARTs. As more genetic causes of reproductive failure are now recognised and an increasing number of patients undergo testing of their genome before conception, either in regular health care or in the context of direct-to-consumer testing, the need for genetic counselling and preimplantation genetic diagnosis (PGD) may increase. Preimplantation genetic screening (PGS) thus far does not have evidence from randomised clinical trials to substantiate that the technique is both effective and efficient. Whole-genome sequencing may create greater challenges both in the technological and interpretational domains, and requires further reflection about the ethics of genetic testing in ART and PGD/PGS. Diagnostic laboratories should be reporting their results according to internationally accepted accreditation standards (International Standards Organisation - ISO 15189). Further studies are needed in order to address issues related to the impact of ART on epigenetic reprogramming of the early embryo. The legal landscape regarding assisted reproduction is evolving but still remains very heterogeneous and often contradictory. The lack of legal harmonisation and uneven access to infertility treatment and PGD/PGS fosters considerable cross-border reproductive care in Europe and beyond. The aim of this paper is to complement previous publications and provide

  1. Malignant transformation in a defined genetic background: proteome changes displayed by 2D-PAGE

    Directory of Open Access Journals (Sweden)

    Vogiatzi Fotini

    2010-09-01

    Full Text Available Abstract Background Cancer arises from normal cells through the stepwise accumulation of genetic alterations. Cancer development can be studied by direct genetic manipulation within experimental models of tumorigenesis. Thereby, confusion by the genetic heterogeneity of patients can be circumvented. Moreover, identification of the critical changes that convert a pre-malignant cell into a metastatic, therapy resistant tumor cell, however, is one necessary step to develop effective and selective anti-cancer drugs. Thus, for the current study a cell culture model for malignant transformation was used: Primary human fibroblasts of the BJ strain were sequentially transduced with retroviral vectors encoding the genes for hTERT (cell line BJ-T, simian virus 40 early region (SV40 ER, cell line BJ-TE and H-Ras V12 (cell line BJ-TER. Results The stepwise malignant transformation of human fibroblasts was analyzed on the protein level by differential proteome analysis. We observed 39 regulated protein spots and therein identified 67 different proteins. The strongest change of spot patterns was detected due to integration of SV40 ER. Among the proteins being significantly regulated during the malignant transformation process well known proliferating cell nuclear antigen (PCNA as well as the chaperones mitochondrial heat shock protein 75 kDa (TRAP-1 and heat shock protein HSP90 were identified. Moreover, we find out, that TRAP-1 is already up-regulated by means of SV40 ER expression instead of H-Ras V12. Furthermore Peroxiredoxin-6 (PRDX6, Annexin A2 (p36, Plasminogen activator inhibitor 2 (PAI-2 and Keratin type II cytoskeletal 7 (CK-7 were identified to be regulated. For some protein candidates we confirmed our 2D-PAGE results by Western Blot. Conclusion These findings give further hints for intriguing interactions between the p16-RB pathway, the mitochondrial chaperone network and the cytoskeleton. In summary, using a cell culture model for malignant

  2. Recombinase-Dependent Mouse Lines for Chemogenetic Activation of Genetically Defined Cell Types

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    Natale R. Sciolino

    2016-06-01

    Full Text Available Chemogenetic technologies, including the mutated human Gq-coupled M3 muscarinic receptor (hM3Dq, have greatly facilitated our ability to directly link changes in cellular activity to altered physiology and behavior. Here, we extend the hM3Dq toolkit with recombinase-responsive mouse lines that permit hM3Dq expression in virtually any cell type. These alleles encode a fusion protein designed to increase effective expression levels by concentrating hM3Dq to the cell body and dendrites. To illustrate their broad utility, we targeted three different genetically defined cell populations: noradrenergic neurons of the compact, bilateral locus coeruleus and two dispersed populations, Camk2a+ neurons and GFAP+ glia. In all three populations, we observed reproducible expression and confirmed that activation of hM3Dq is sufficient to dose-dependently evoke phenotypic changes, without extreme phenotypes associated with hM3Dq overexpression. These alleles offer the ability to non-invasively control activity of diverse cell types to uncover their function and dysfunction at any developmental stage.

  3. Genetic fine-mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

    Science.gov (United States)

    Mahajan, Anubha; Locke, Adam; Rayner, N William; Robertson, Neil; Scott, Robert A; Prokopenko, Inga; Scott, Laura J; Green, Todd; Sparso, Thomas; Thuillier, Dorothee; Yengo, Loic; Grallert, Harald; Wahl, Simone; Frånberg, Mattias; Strawbridge, Rona J; Kestler, Hans; Chheda, Himanshu; Eisele, Lewin; Gustafsson, Stefan; Steinthorsdottir, Valgerdur; Thorleifsson, Gudmar; Qi, Lu; Karssen, Lennart C; van Leeuwen, Elisabeth M; Willems, Sara M; Li, Man; Chen, Han; Fuchsberger, Christian; Kwan, Phoenix; Ma, Clement; Linderman, Michael; Lu, Yingchang; Thomsen, Soren K; Rundle, Jana K; Beer, Nicola L; van de Bunt, Martijn; Chalisey, Anil; Kang, Hyun Min; Voight, Benjamin F; Abecasis, Goncalo R; Almgren, Peter; Baldassarre, Damiano; Balkau, Beverley; Benediktsson, Rafn; Blüher, Matthias; Boeing, Heiner; Bonnycastle, Lori L; Borringer, Erwin P; Burtt, Noël P; Carey, Jason; Charpentier, Guillaume; Chines, Peter S; Cornelis, Marilyn C; Couper, David J; Crenshaw, Andrew T; van Dam, Rob M; Doney, Alex SF; Dorkhan, Mozhgan; Edkins, Sarah; Eriksson, Johan G; Esko, Tonu; Eury, Elodie; Fadista, João; Flannick, Jason; Fontanillas, Pierre; Fox, Caroline; Franks, Paul W; Gertow, Karl; Gieger, Christian; Gigante, Bruna; Gottesman, Omri; Grant, George B; Grarup, Niels; Groves, Christopher J; Hassinen, Maija; Have, Christian T; Herder, Christian; Holmen, Oddgeir L; Hreidarsson, Astradur B; Humphries, Steve E; Hunter, David J; Jackson, Anne U; Jonsson, Anna; Jørgensen, Marit E; Jørgensen, Torben; Kerrison, Nicola D; Kinnunen, Leena; Klopp, Norman; Kong, Augustine; Kovacs, Peter; Kraft, Peter; Kravic, Jasmina; Langford, Cordelia; Leander, Karin; Liang, Liming; Lichtner, Peter; Lindgren, Cecilia M; Lindholm, Eero; Linneberg, Allan; Liu, Ching-Ti; Lobbens, Stéphane; Luan, Jian’an; Lyssenko, Valeriya; Männistö, Satu; McLeod, Olga; Meyer, Julia; Mihailov, Evelin; Mirza, Ghazala; Mühleisen, Thomas W; Müller-Nurasyid, Martina; Navarro, Carmen; Nöthen, Markus M; Oskolkov, Nikolay N; Owen, Katharine R; Palli, Domenico; Pechlivanis, Sonali; Perry, John RB; Platou, Carl GP; Roden, Michael; Ruderfer, Douglas; Rybin, Denis; van der Schouw, Yvonne T; Sennblad, Bengt; Sigurðsson, Gunnar; Stančáková, Alena; Steinbach, Gerald; Storm, Petter; Strauch, Konstantin; Stringham, Heather M; Sun, Qi; Thorand, Barbara; Tikkanen, Emmi; Tonjes, Anke; Trakalo, Joseph; Tremoli, Elena; Tuomi, Tiinamaija; Wennauer, Roman; Wood, Andrew R; Zeggini, Eleftheria; Dunham, Ian; Birney, Ewan; Pasquali, Lorenzo; Ferrer, Jorge; Loos, Ruth JF; Dupuis, Josée; Florez, Jose C; Boerwinkle, Eric; Pankow, James S; van Duijn, Cornelia; Sijbrands, Eric; Meigs, James B; Hu, Frank B; Thorsteinsdottir, Unnur; Stefansson, Kari; Lakka, Timo A; Rauramaa, Rainer; Stumvoll, Michael; Pedersen, Nancy L; Lind, Lars; Keinanen-Kiukaanniemi, Sirkka M; Korpi-Hyövälti, Eeva; Saaristo, Timo E; Saltevo, Juha; Kuusisto, Johanna; Laakso, Markku; Metspalu, Andres; Erbel, Raimund; Jöckel, Karl-Heinz; Moebus, Susanne; Ripatti, Samuli; Salomaa, Veikko; Ingelsson, Erik; Boehm, Bernhard O; Bergman, Richard N; Collins, Francis S; Mohlke, Karen L; Koistinen, Heikki; Tuomilehto, Jaakko; Hveem, Kristian; Njølstad, Inger; Deloukas, Panagiotis; Donnelly, Peter J; Frayling, Timothy M; Hattersley, Andrew T; de Faire, Ulf; Hamsten, Anders; Illig, Thomas; Peters, Annette; Cauchi, Stephane; Sladek, Rob; Froguel, Philippe; Hansen, Torben; Pedersen, Oluf; Morris, Andrew D; Palmer, Collin NA; Kathiresan, Sekar; Melander, Olle; Nilsson, Peter M; Groop, Leif C; Barroso, Inês; Langenberg, Claudia; Wareham, Nicholas J; O’Callaghan, Christopher A; Gloyn, Anna L; Altshuler, David; Boehnke, Michael; Teslovich, Tanya M; McCarthy, Mark I; Morris, Andrew P

    2015-01-01

    We performed fine-mapping of 39 established type 2 diabetes (T2D) loci in 27,206 cases and 57,574 controls of European ancestry. We identified 49 distinct association signals at these loci, including five mapping in/near KCNQ1. “Credible sets” of variants most likely to drive each distinct signal mapped predominantly to non-coding sequence, implying that T2D association is mediated through gene regulation. Credible set variants were enriched for overlap with FOXA2 chromatin immunoprecipitation binding sites in human islet and liver cells, including at MTNR1B, where fine-mapping implicated rs10830963 as driving T2D association. We confirmed that this T2D-risk allele increases FOXA2-bound enhancer activity in islet- and liver-derived cells. We observed allele-specific differences in NEUROD1 binding in islet-derived cells, consistent with evidence that the T2D-risk allele increases islet MTNR1B expression. Our study demonstrates how integration of genetic and genomic information can define molecular mechanisms through which variants underlying association signals exert their effects on disease. PMID:26551672

  4. Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy

    Science.gov (United States)

    Harper, Joyce C; Geraedts, Joep; Borry, Pascal; Cornel, Martina C; Dondorp, Wybo; Gianaroli, Luca; Harton, Gary; Milachich, Tanya; Kääriäinen, Helena; Liebaers, Inge; Morris, Michael; Sequeiros, Jorge; Sermon, Karen; Shenfield, Françoise; Skirton, Heather; Soini, Sirpa; Spits, Claudia; Veiga, Anna; Vermeesch, Joris Robert; Viville, Stéphane; de Wert, Guido; Macek, Milan

    2013-01-01

    In March 2005, a group of experts from the European Society of Human Genetics and European Society of Human Reproduction and Embryology met to discuss the interface between genetics and assisted reproductive technology (ART), and published an extended background paper, recommendations and two Editorials. Seven years later, in March 2012, a follow-up interdisciplinary workshop was held, involving representatives of both professional societies, including experts from the European Union Eurogentest2 Coordination Action Project. The main goal of this meeting was to discuss developments at the interface between clinical genetics and ARTs. As more genetic causes of reproductive failure are now recognised and an increasing number of patients undergo testing of their genome before conception, either in regular health care or in the context of direct-to-consumer testing, the need for genetic counselling and preimplantation genetic diagnosis (PGD) may increase. Preimplantation genetic screening (PGS) thus far does not have evidence from randomised clinical trials to substantiate that the technique is both effective and efficient. Whole-genome sequencing may create greater challenges both in the technological and interpretational domains, and requires further reflection about the ethics of genetic testing in ART and PGD/PGS. Diagnostic laboratories should be reporting their results according to internationally accepted accreditation standards (International Standards Organisation – ISO 15189). Further studies are needed in order to address issues related to the impact of ART on epigenetic reprogramming of the early embryo. The legal landscape regarding assisted reproduction is evolving but still remains very heterogeneous and often contradictory. The lack of legal harmonisation and uneven access to infertility treatment and PGD/PGS fosters considerable cross-border reproductive care in Europe and beyond. The aim of this paper is to complement previous publications and

  5. Genetic connectivity in the Florida reef system: comparative phylogeography of commensal invertebrates with contrasting reproductive strategies.

    Science.gov (United States)

    Richards, Vincent P; Thomas, James D; Stanhope, Michael J; Shivji, Mahmood S

    2007-01-01

    Effective spatial management of coral reefs including design of marine protected areas requires an understanding of interpopulation genetic connectivity. We assessed gene flow along 355 km of the Florida reef system and between Florida and Belize in three commensal invertebrates occupying the same host sponge (Callyspongia vaginalis) but displaying contrasting reproductive dispersal strategies: the broadcast-spawning brittle star Ophiothrix lineata and two brooding amphipods Leucothoe kensleyi and Leucothoe ashleyae. Multiple analytical approaches to sequence variation in the mitochondrial COI gene demonstrated a high degree of overall connectivity for all three species along the Florida reef system. Ophiothrix lineata showed significant genetic structuring between Florida and Belize, and a pattern of isolation by distance but no significant genetic structuring along the Florida coastline. Bayesian estimates of migration detected a strong southerly dispersal bias for O. lineata along the Florida reef system, contrary to the general assumption of northerly gene flow in this region based on the direction of the Florida Current. Both amphipods, despite direct development, also showed high gene flow along the Florida reef system. Multiple inferences of long-distance dispersal from a nested clade analysis support the hypothesis that amphipod transport, possibly in detached sponge fragments, could generate the high levels of overall gene flow observed. However, this transport mechanism appears much less effective across deep water as connectivity between Florida and Belize (1072 km) is highly restricted.

  6. Comparative preimplantation genetic diagnosis policy in Europe and the USA and its implications for reproductive tourism

    Directory of Open Access Journals (Sweden)

    Michelle J Bayefsky

    2016-12-01

    Full Text Available Unlike many European nations, the USA has no regulations concerning the use of preimplantation genetic diagnosis (PGD, a technique employed during some fertility treatments to select embryos based on their genes. As such, PGD can and is used for a variety of controversial purposes, including sex selection, selection for children with disabilities such as deafness, and selection for ‘saviour siblings’ who can serve as tissue donors for sick relatives. The lack of regulation, which is due to particular features of the US political and economic landscape, has ethical and practical implications for patients seeking PGD around the world. This paper contrasts the absence of PGD oversight in the USA with existing PGD policies in Switzerland, Italy, France and the UK. The primary reasons why PGD is not regulated in the USA are addressed, with consideration of factors such as funding for assisted reproductive technology treatmemt and the proximity of PGD to the contentious abortion debate. The obstacles that would need to be overcome in the USA for PGD to be regulated in the future are outlined. Then, the significance of the current divergence in PGD policy for patients around the world are discussed. Regulatory differences create opportunities for reproductive tourism, which result in legal, health and moral challenges. The paper concludes with comments on the need for policymakers around the world to balance respect for the characters and constitutions of their individual countries with appreciation of the needs of infertile patients across the globe.

  7. Cell and genetic predictors of human blastocyst hatching success in assisted reproduction.

    Science.gov (United States)

    Syrkasheva, Anastasiya G; Dolgushina, Nataliya V; Romanov, Andrey Yu; Burmenskaya, Olga V; Makarova, Nataliya P; Ibragimova, Espet O; Kalinina, Elena A; Sukhikh, Gennady T

    2017-10-01

    The aim was to identify cell and genetic predictors of human blastocyst hatching success in assisted reproduction programmes via a prospective case-control study. Blastocysts, donated by couples in assisted reproduction programmes were used. Hatching success assessment was performed after 144-146 h post-fertilization. The mRNA expression levels of cathepsin V (CTSV), GATA-binding protein 3 (GATA3) and human chorionic gonadotropin beta subunit 3, 5, 7 and 8 (CGB) genes were detected by quantitative real-time polymerase chain reaction. The odds ratio (OR) of hatching due to zona pellucida (ZP) thickness, oocyte and sperm quality, embryo quality and mRNA expression of CTSV, GATA3 and CGB genes in blastocysts was determined. From 62 blastocysts included in the study, 47 (75.8%) were unable to hatch spontaneously. The ZP thickening, and oocyte and sperm quality did not affect human blastocyst ability to hatch, except the combination of cytoplasmic and extracytoplasmic oocyte dysmorphisms (OR = 1.25; 95% confidence interval = 1.08, 1.45). Hatching-capable blastocysts had higher Gardner scale grade and mRNA expression of CTSV, GATA3 and CGB genes than hatching-incapable blastocysts. The human blastocyst hatching success depends on the blastocyst Gardner grade, but not on ZP and gamete quality. Blastocyst development was regulated by CTSV, GATA3 and CGB gene expression.

  8. Comparative preimplantation genetic diagnosis policy in Europe and the USA and its implications for reproductive tourism.

    Science.gov (United States)

    Bayefsky, Michelle J

    2016-12-01

    Unlike many European nations, the USA has no regulations concerning the use of preimplantation genetic diagnosis (PGD), a technique employed during some fertility treatments to select embryos based on their genes. As such, PGD can and is used for a variety of controversial purposes, including sex selection, selection for children with disabilities such as deafness, and selection for 'saviour siblings' who can serve as tissue donors for sick relatives. The lack of regulation, which is due to particular features of the US political and economic landscape, has ethical and practical implications for patients seeking PGD around the world. This paper contrasts the absence of PGD oversight in the USA with existing PGD policies in Switzerland, Italy, France and the UK. The primary reasons why PGD is not regulated in the USA are addressed, with consideration of factors such as funding for assisted reproductive technology treatmemt and the proximity of PGD to the contentious abortion debate. The obstacles that would need to be overcome in the USA for PGD to be regulated in the future are outlined. Then, the significance of the current divergence in PGD policy for patients around the world are discussed. Regulatory differences create opportunities for reproductive tourism, which result in legal, health and moral challenges. The paper concludes with comments on the need for policymakers around the world to balance respect for the characters and constitutions of their individual countries with appreciation of the needs of infertile patients across the globe.

  9. Linkage Map of Lissotriton Newts Provides Insight into the Genetic Basis of Reproductive Isolation

    Directory of Open Access Journals (Sweden)

    Marta Niedzicka

    2017-07-01

    Full Text Available Linkage maps are widely used to investigate structure, function, and evolution of genomes. In speciation research, maps facilitate the study of the genetic architecture of reproductive isolation by allowing identification of genomic regions underlying reduced fitness of hybrids. Here we present a linkage map for European newts of the Lissotriton vulgaris species complex, constructed using two families of F2 L. montandoni × L. vulgaris hybrids. The map consists of 1146 protein-coding genes on 12 linkage groups, equal to the haploid chromosome number, with a total length of 1484 cM (1.29 cM per marker. It is notably shorter than two other maps available for salamanders, but the differences in map length are consistent with cytogenetic estimates of the number of chiasmata per chromosomal arm. Thus, large salamander genomes do not necessarily translate into long linkage maps, as previously suggested. Consequently, salamanders are an excellent model to study evolutionary consequences of recombination rate variation in taxa with large genomes and a similar number of chromosomes. A complex pattern of transmission ratio distortion (TRD was detected: TRD occurred mostly in one family, in one breeding season, and was clustered in two genomic segments. This is consistent with environment-dependent mortality of individuals carrying L. montandoni alleles in these two segments and suggests a role of TRD blocks in reproductive isolation. The reported linkage map will empower studies on the genomic architecture of divergence and interactions between the genomes of hybridizing newts.

  10. Analyses between Reproductive Behavior, Genetic Diversity and Pythium Responsiveness in Zingiber spp. Reveal an Adaptive Significance for Hemiclonality.

    Science.gov (United States)

    Thomas, Geethu E; Geetha, Kiran A; Augustine, Lesly; Mamiyil, Sabu; Thomas, George

    2016-01-01

    Mode of reproduction is generally considered to have long-range evolutionary implications on population survival. Because sexual reproduction produces genetically diverse genotypes, this mode of reproduction is predicted to positively influence the success potential of offspring in evolutionary arms race with parasites (Red queen) whereas, without segregation and recombination, the obligate asexual multiplication may push a species into extinction due to the steady accumulation of deleterious mutations (Muller's ratchet). However, the extent of linearity between reproductive strategies, genetic diversity and population fitness, and the contributions of different breeding strategies to population fitness are yet to be understood clearly. Genus Zingiber belonging to the pan-tropic family Zingiberaceae represents a good system to study contributions of different breeding behavior on genetic diversity and population fitness, as this genus comprises species with contrasting breeding systems. In this study, we analyzed breeding behavior, amplified fragment length polymorphism diversity and response to the soft-rot pathogen Pythium aphanidermatum in 18 natural populations of three wild Zingiber spp.: Z. neesanum, Z. nimmonii, and Z. zerumbet, together with the obligately asexual cultivated congener, ginger (Z. officinale). Ginger showed an exceptionally narrow genetic base, and adding to this, all the tested cultivars were uniformly susceptible to soft-rot. Concordant with the postulates of Muller's ratchet, the background selection may be continuously pushing ginger into the ancestral state, rendering it inefficient in host-pathogen coevolution. Z. neesanum and Z. nimmonii populations were sexual and genetically diverse; however, contrary to Red Queen expectations, the populations were highly susceptible to soft-rot. Z. zerumbet showed a hemiclonal breeding behavior. The populations inhabiting forest understory were large and continuous, sexual and genetically diverse

  11. Analyses between Reproductive Behavior, Genetic Diversity and Pythium Responsiveness in Zingiber spp. Reveal an Adaptive Significance for Hemiclonality

    Science.gov (United States)

    Thomas, Geethu E.; Geetha, Kiran A.; Augustine, Lesly; Mamiyil, Sabu; Thomas, George

    2016-01-01

    Mode of reproduction is generally considered to have long-range evolutionary implications on population survival. Because sexual reproduction produces genetically diverse genotypes, this mode of reproduction is predicted to positively influence the success potential of offspring in evolutionary arms race with parasites (Red queen) whereas, without segregation and recombination, the obligate asexual multiplication may push a species into extinction due to the steady accumulation of deleterious mutations (Muller’s ratchet). However, the extent of linearity between reproductive strategies, genetic diversity and population fitness, and the contributions of different breeding strategies to population fitness are yet to be understood clearly. Genus Zingiber belonging to the pan-tropic family Zingiberaceae represents a good system to study contributions of different breeding behavior on genetic diversity and population fitness, as this genus comprises species with contrasting breeding systems. In this study, we analyzed breeding behavior, amplified fragment length polymorphism diversity and response to the soft-rot pathogen Pythium aphanidermatum in 18 natural populations of three wild Zingiber spp.: Z. neesanum, Z. nimmonii, and Z. zerumbet, together with the obligately asexual cultivated congener, ginger (Z. officinale). Ginger showed an exceptionally narrow genetic base, and adding to this, all the tested cultivars were uniformly susceptible to soft-rot. Concordant with the postulates of Muller’s ratchet, the background selection may be continuously pushing ginger into the ancestral state, rendering it inefficient in host-pathogen coevolution. Z. neesanum and Z. nimmonii populations were sexual and genetically diverse; however, contrary to Red Queen expectations, the populations were highly susceptible to soft-rot. Z. zerumbet showed a hemiclonal breeding behavior. The populations inhabiting forest understory were large and continuous, sexual and genetically

  12. Allopatric speciation in ticks: genetic and reproductive divergence between geographic strains of Rhipicephalus (Boophilus microplus

    Directory of Open Access Journals (Sweden)

    Jongejan Frans

    2009-02-01

    Full Text Available Abstract Background The cattle tick, Rhipicephalus (Boophilus microplus, economically impact cattle industry in tropical and subtropical regions of the world. The morphological and genetic differences among R. microplus strains have been documented in the literature, suggesting that biogeographical and ecological separation may have resulted in boophilid ticks from America/Africa and those from Australia being different species. To test the hypothesis of the presence of different boophilid species, herein we performed a series of experiments to characterize the reproductive performance of crosses between R. microplus from Australia, Africa and America and the genetic diversity of strains from Australia, Asia, Africa and America. Results The results showed that the crosses between Australian and Argentinean or Mozambican strains of boophilid ticks are infertile while crosses between Argentinean and Mozambican strains are fertile. These results showed that tick strains from Africa (Mozambique and America (Argentina are the same species, while ticks from Australia may actually represent a separate species. The genetic analysis of mitochondrial 12S and 16S rDNA and microsatellite loci were not conclusive when taken separately, but provided evidence that Australian tick strains were genetically different from Asian, African and American strains. Conclusion The results reported herein support the hypothesis that at least two different species share the name R. microplus. These species could be redefined as R. microplus (Canestrini, 1887 (for American and African strains and probably the old R. australis Fuller, 1899 (for Australian strains, which needs to be redescribed. However, experiments with a larger number of tick strains from different geographic locations are needed to corroborate these results.

  13. Experiences of faith group members using new reproductive and genetic technologies: A qualitative interview study.

    Science.gov (United States)

    Scully, Jackie Leach; Banks, Sarah; Song, Robert; Haq, Jackie

    2017-04-01

    This paper explores the experiences of members of faith groups deciding whether or not to use new reproductive or genetic technologies (NRGTs). It is based on 16 in-depth, semi-structured interviews with people with direct experience of NRGTs. Participants identified as members of Christian or Muslim faith traditions and had been faced with deciding whether or not to make use of novel forms of fertility treatment or genetic testing. The findings show that members of faith groups may experience specific barriers of access, and distinctive ethical difficulties, when considering the use of different forms of NRGTs. Both Christian and Muslim interviewees reported difficulties in obtaining information on the official faith teaching, or found that their faith group had not yet crafted an official position. Participants' needs for information, and the opportunity to discuss the faith implications of their clinical choices, were not being met in either the clinic or the faith setting. This paper concludes that clinics should indicate more clearly their acknowledgement of patients' faith concerns. Appropriate training is needed for both healthcare professionals and chaplains, while faith groups should be encouraged to engage with healthcare providers to ensure that guidance is available to their members.

  14. Conceptual Incongruence between Prion Disease and Genetic Diversity in Ovine Species within European Union defined by Informational Statistics Terms

    Directory of Open Access Journals (Sweden)

    Gheorghe Hrinca

    2016-11-01

    Full Text Available Biodiversity and the studies of spongiform encephalopathies in the farm animals are highly topical concerns of the contemporary scientific world. Both themes are very interesting for the life sciences and very important for the application field of animal breeding. The implementation of these two concepts creates an antithetical paradigm: the achievement of genetic prophylaxis joins with the decrease of genetic diversity. The paper examines the genetic diversity and its evolution in sheep livestock from the European space in the context in which the European Community has developed very laborious and costly programs targeted both for conservation and enhancement of biodiversity and to eradicate the scrapie in small ruminants. This paper utilises a precise method to quantify the genetic biodiversity in all sheep populations in Europe by a modern concept derived from informational statistics - informational energy. In addition, the paper proposes concrete and viable solutions to achieve these two desiderata at optimal levels in connection with a perfect perspicacity of sheep breeder which consists in accuracy of the reproduction process and correct application of the selection criteria.

  15. Control of porcine reproductive and respiratory syndrome (PRRS through genetic improvements in disease resistance and tolerance

    Directory of Open Access Journals (Sweden)

    Raymond eRowland

    2012-12-01

    Full Text Available Infections caused by porcine reproductive and respiratory syndrome virus (PRRSV have a severe economic impact on pig production in North America, Europe and Asia. The emergence and eventual predominance of PRRS in the 1990s are the likely result of changes in the pork industry initiated in the late 1970s, which allowed the virus to occupy a unique niche within a modern commercial production system. PRRSV infection is responsible for severe clinical disease, but can maintain a life-long subclinical infection, as well as participate in several polymicrobial syndromes. Current vaccines lessen clinical signs, but are of limited use for disease control and elimination. The relatively poor protective immunity following vaccination is a function of the virus’s capacity to generate a large degree of genetic diversity, combined with several strategies to evade innate and adaptive immune responses. In 2007, the PRRS Host Genetics consortium (PHGC was established to explore the role of host genetics as as an avenue for PRRS control. The PHGC model for PRRS incorporates the experimental infection of large numbers of growing pigs and has created the opportunity to study experimental PRRSV infection at the population level. The results show that pigs can be placed into distinct phenotypic groups, including pigs that show resistance or pigs that exhibit tolerance to infection. Tolerance is best illustrated by pigs that gain weight normally in the face of a relatively high virus load. Genome-wide association analysis has identified a region on chromosome 4 (SSC4 correlated with resistance; i.e., higher weight gain combined with lower virus load. The genomic region is near a family of genes involved in innate immunity. These results create the opportunity to develop breeding programs that will produce pigs with increased resistance to PRRS. The identification of genomic markers involved in tolerance will likely prove more difficult, primarily because tolerance

  16. Revealing genetic relationships between compounds affecting boar taint and reproduction in pigs.

    Science.gov (United States)

    Grindflek, E; Meuwissen, T H E; Aasmundstad, T; Hamland, H; Hansen, M H S; Nome, T; Kent, M; Torjesen, P; Lien, S

    2011-03-01

    Boar taint is characterized by an unpleasant taste or odor in intact male pigs and is primarily attributed to increased concentrations of androstenone and skatole and to a lesser extent by increased indole. The boar taint compounds skatole and indole are produced by gut bacteria, metabolized in the liver, and stored in the fat tissue. Androstenone, on the other hand, is synthesized in the testis along with testosterone and estrogens, which are known to be important factors affecting fertility. The main goal of this study was to investigate the relationship between genetic factors involved in the primary boar taint compounds in an attempt to discover ways to reduce boar taint without decreasing fertility-related compounds. Heritabilities and genetic correlations between traits were estimated for compounds related to boar taint (androstenone, skatole, indole) and reproduction (testosterone, 17β-estradiol, and estrone sulfate). Heritabilities in the range of 0.47 to 0.67 were detected for androstenone concentrations in both fat and plasma, whereas those for skatole and indole were slightly less (0.27 to 0.41). The genetic correlations between androstenone in plasma and fat were extremely high (0.91 to 0.98) in Duroc and Landrace. In addition, genetic correlations between androstenone (both plasma and fat) and the other sex steroids (estrone sulfate, 17β-estradiol, and testosterone) were very high, in the range of 0.80 to 0.95. Furthermore, a genome-wide association study (GWA) and a combined linkage disequilibrium and linkage analysis (LDLA) were conducted on 1,533 purebred Landrace and 1,027 purebred Duroc to find genome regions involved in genetic control of the boar taint compounds androstenone, skatole, and indole, and sex hormones related to fertility traits. Up to 3,297 informative SNP markers were included for both breeds, including SNP from several boar taint candidate genes. From the GWA study, we found that altogether 27 regions were significant at a

  17. Reproductive Potential and Genetics of Triploid Pacific Oysters, Crassostrea gigas (Thunberg).

    Science.gov (United States)

    Guo, X; Allen, S K

    1994-12-01

    The reproductive potential and genetics of triploidy were studied in the Pacific oyster. DNA content in sperm from triploids showed a single peak at 1.5c as determined by flow cytometry. In eggs from triploids, trivalents were the dominant form of synapsed chromosomes, although the degree of synapsis varied considerably within and among females. Some eggs went through complete synapsis and formed 10 trivalents, chromosomes; most had a mixture of 11-13 trivalents, bivalents, and univalents. Factorial matings were produced from diploid (D) and triploid (T) parent oysters, creating four crosses: DD, DT, TD, and TT (female first). Gametes from triploids were fully capable of fertilization. After fertilization, eggs from triploids went through two meioses and released two polar bodies as diploid eggs did. Karyological analyses showed that average ploidy of the resultant embryos was 2.0 n for DD, 2.46 n for DT, 2.52 n for TD, and 2.88 n for TT. Survival of fertilized eggs to metamorphosis and settlement was about 21% for DD, but considerably lower on other crosses: 0.0007% for DT, 0.0463% for TD, and 0.0085% for TT. Nine months after matings, all survivors from DT crosses were diploid. Survivors from TD crosses consisted of 33% diploids, 57% triploids, and 10% tetraploids. Survivors from the TT crosses consisted of 90% triploids, 4% diploids, and 6% mosaics. We hypothesize that differences in ploidy composition between DT and TD embryos and survivors were caused by pro-egg segregations that favor the retention, rather than loss, of extra chromosomes in the egg. The reproductive potential of triploids and evolutionary implications are discussed.

  18. Wild gazelles of the southern Levant: genetic profiling defines new conservation priorities.

    Directory of Open Access Journals (Sweden)

    Lia Hadas

    Full Text Available The mountain gazelle (Gazella gazelle, Dorcas gazelle (Gazella Dorcas and acacia gazelle (Gazella arabica acacia were historically abundant in the southern Levant, and more specifically in Israel. Anthropogenic and natural changes have caused a rapid decline in gazelle populations, raising concerns about their conservation status and future survival. The genetic profile of 111 wild gazelles from Israel was determined based on three regions of mitochondrial DNA (control region, Cytochrome b and 12S ribosomal RNA and nine nuclear microsatellite markers. Genetic analysis of the mountain gazelle population, the largest known population of this rare species, revealed adequate diversity levels and gene flow between subpopulations. Nevertheless, ongoing habitat degradation and other human effects, such as poaching, suggest the need for drastic measures to prevent species extinction. Dorcas gazelles in Israel displayed inbreeding within subpopulations while still maintaining considerable genetic diversity overall. This stable population, represented by a distinctive genetic profile, is fragmented and isolated from its relatives in neighboring localities. Based on the genetic profile of a newly sampled subpopulation in Israel, we provide an alternative hypothesis for the historic dispersal of Dorcas gazelle, from the Southern Levant to northern Africa. The small acacia gazelle population was closest to gazelles from the Farasan Islands of Saudi Arabia, based on mitochondrial markers. The two populations did not share haplotypes, suggesting that these two populations may be the last remnant wild gazelles of this species worldwide. Only a dozen acacia gazelles survive in Israel, and urgent steps are needed to ensure the survival of this genetically distinctive lineage. The genetic assessments of our study recognize new conservation priorities for each gazelle species in the Southern Levant.

  19. Maternal and genetic influences on production and reproduction traits in pigs

    OpenAIRE

    Steen, van, M.

    1983-01-01

    The profitability of pig production may be expressed as a function of reproductivity and productivity. The optimal selection pressure on reproductivity relative to productivity depends on the response to selection and the economic value of the response. Reproductive performance is primarily a function of the dam and involves age at first oestrus, conception rate, litter size and the interval between weaning and oestrus. An increase in the litter size would improve the reproductive performance...

  20. Why Cells Grow and Divide? General Growth Mechanism and How it Defines Cells’ Growth, Reproduction and Metabolic Properties

    Science.gov (United States)

    Shestopaloff, Yuri K.

    2015-02-01

    We consider a general growth mechanism, which acts at cellular level and above (organs, systems and whole organisms). Using its mathematical representation, the growth equation, we study the growth and division mechanisms of amoeba and fission yeast Schizosaccharomyces pombe. We show how this mechanism, together with biomolecular machinery, governs growth and reproduction of cells, and these organisms in particular. This mechanism provides revealing answers to fundamental questions of biology, like why cells grow and divide, why and when cells’ growth stops. It also sheds light on questions like why and how life originated and developed. Solving the growth equation, we obtain analytical expression for the growth curve of fission yeast as a function of geometrical characteristics and nutrient influxes for RNA and protein synthesis, and compare the computed growth curves with 85 experiments. Statistical evaluation shows that these growth curves correspond to experimental data significantly better than all previous approximations. Also, using the general growth mechanism, we show how metabolic characteristics of cells, their size and evolutionary traits relate, considering fission yeast. In particular, we found that fission yeast S. pombe consumes about 16-18 times more nutrients for maintenance needs than for biomass synthesis.

  1. Analyses between Reproductive Behaviour, Genetic Diversity and Pythium Responsiveness in Zingiber spp. reveal an adaptive significance for hemiclonality

    Directory of Open Access Journals (Sweden)

    Geethu Elizabath Thomas

    2016-12-01

    Full Text Available AbstractMode of reproduction is generally considered to have long-range evolutionary implications on population survival. Because sexual reproduction produces genetically diverse genotypes, this mode of reproduction is predicted to positively influence the success potential of offspring in evolutionary arms race with parasites (Red queen whereas, without segregation and recombination, the obligate asexual multiplication may push a species into extinction due to the steady accumulation of deleterious mutations (Muller’s ratchet. However, the extent of linearity between reproductive strategies, genetic diversity and population fitness, and the contributions of different breeding strategies to population fitness are yet to be understood clearly. Genus Zingiber belonging to the pan-tropic family Zingiberaceae represents a good system to study contributions of different breeding behaviour on genetic diversity and population fitness, as this genus comprises species with contrasting breeding systems. In this study, we analyzed breeding behaviour, amplified fragment length polymorphism (AFLP diversity and response to the soft-rot pathogen Pythium aphanidermatum in 18 natural populations of three wild Zingiber spp.: Z. neesanum, Z. nimmonii and Z. zerumbet, together with the obligately asexual cultivated congener, ginger (Z. officinale. Ginger showed an exceptionally narrow genetic base, and adding to this, all the tested cultivars were uniformly susceptible to soft-rot. Concordant with the postulates of Muller’s ratchet, the background selection may be continuously pushing ginger into the ancestral state, rendering it inefficient in host-pathogen coevolution. Z. neesanum and Z. nimmonii populations were sexual and genetically diverse; however, contrary to Red Queen expectations, the populations were highly susceptible to soft-rot. Z. zerumbet showed a hemiclonal breeding behaviour. The populations inhabiting forest understory were large and

  2. Maternal and genetic influences on production and reproduction traits in pigs

    NARCIS (Netherlands)

    Steen, van der H.A.M.

    1983-01-01

    The profitability of pig production may be expressed as a function of reproductivity and productivity. The optimal selection pressure on reproductivity relative to productivity depends on the response to selection and the economic value of the response. Reproductive performance is primarily a

  3. Long-term implications of feed energy source in different genetic types of reproductive rabbit females: III. Fitness and productivity.

    Science.gov (United States)

    Arnau-Bonachera, A; Savietto, D; Pascual, J J

    2017-12-11

    The specialization process associated with genetic selection could be associated with functional disorders, affecting the reproductive success of females (fitness). We hypothesized that by modulating energy acquisition and allocation of females we could balance productivity and reproductive success. To test this hypothesis, we used 203 rabbit females belonging to three genetic types: H (n=66) maternal line specialized in prolificacy, LP (n=67) generalist maternal line, R (n=70) paternal line specialized in growth rate. We fed each genetic type with two diets specifically designed to promote milk yield (AF) or body reserves recovery (CS). We controlled females between their first and fifth reproductive cycles, recording traits related with productivity and fitness of females. H females fed CS had on average 11.2±0.43 kits with an individual weight of 54±1.2 g at birth and 525±11 g at weaning. Their conception rate when multiparous was 44% and their survival rate at the end of the experiment 30%. When they were fed AF, the individual weight of kits was 3.8 g heavier (Pcomponents and that diets could affected them. In this sense, seems that more specialized genetic types, were more sensitive to diets than the more generalist type.

  4. Elevation and connectivity define genetic refugia for mountain sheep as climate warms

    NARCIS (Netherlands)

    Epps, Clinton W.; Palsboll, Per J.; Wehausen, John D.; Roderick, George K.; McCullough, Dale R.

    2006-01-01

    Global warming is predicted to affect the evolutionary potential of natural populations. We assessed genetic diversity of 25 populations of desert bighorn sheep (Ovis canadensis nelsoni) in southeastern California, where temperatures have increased and precipitation has decreased during the 20th

  5. Murine Gut Microbiota Is Defined by Host Genetics and Modulates Variation of Metabolic Traits

    NARCIS (Netherlands)

    McKnite, A.M.; Lu, L.; Williams, E.; Bastiaansen, J.W.M.

    2012-01-01

    The gastrointestinal tract harbors a complex and diverse microbiota that has an important role in host metabolism. Microbial diversity is influenced by a combination of environmental and host genetic factors and is associated with several polygenic diseases. In this study we combined next-generation

  6. Emerging Technologies to Create Inducible and Genetically Defined Porcine Cancer Models

    Science.gov (United States)

    Schook, Lawrence B.; Rund, Laurie; Begnini, Karine R.; Remião, Mariana H.; Seixas, Fabiana K.; Collares, Tiago

    2016-01-01

    There is an emerging need for new animal models that address unmet translational cancer research requirements. Transgenic porcine models provide an exceptional opportunity due to their genetic, anatomic, and physiological similarities with humans. Due to recent advances in the sequencing of domestic animal genomes and the development of new organism cloning technologies, it is now very feasible to utilize pigs as a malleable species, with similar anatomic and physiological features with humans, in which to develop cancer models. In this review, we discuss genetic modification technologies successfully used to produce porcine biomedical models, in particular the Cre-loxP System as well as major advances and perspectives the CRISPR/Cas9 System. Recent advancements in porcine tumor modeling and genome editing will bring porcine models to the forefront of translational cancer research. PMID:26973698

  7. Emerging technologies to create inducible and genetically defined porcine cancer models

    Directory of Open Access Journals (Sweden)

    Lawrence B Schook

    2016-02-01

    Full Text Available There is an emerging need for new animal models that address unmet translational cancer research requirements. Transgenic porcine models provide an exceptional opportunity due to their genetic, anatomic and physiological similarities with humans. Due to recent advances in the sequencing of domestic animal genomes and the development of new organism cloning technologies, it is now very feasible to utilize pigs as a malleable species, with similar anatomic and physiological features with humans, in which to develop cancer models. In this review, we discuss genetic modification technologies successfully used to produce porcine biomedical models, in particular the Cre-loxP System as well as major advances and perspectives the CRISPR/Cas9 System. Recent advancements in porcine tumor modeling and genome editing will bring porcine models to the forefront of translational cancer research.

  8. Genetic diversity of currently circulating rubella viruses: a need to define more precise viral groups.

    Science.gov (United States)

    Rivailler, P; Abernathy, E; Icenogle, J

    2017-03-01

    Recent studies have shown that the currently circulating rubella viruses are mostly members of two genotypes, 1E and 2B. Also, genetically distinct viruses of genotype 1G have been found in East and West Africa. This study used a Mantel test to objectively include both genetic diversity and geographic location in the definition of lineages, and identified statistically justified lineages (n=13) and sub-lineages (n=9) of viruses within genotypes 1G, 1E and 2B. Genotype 2B viruses were widely distributed, while viruses of genotype 1E as well as 1G and 1J were much more geographically restricted. This analysis showed that more precise groupings for rubella viruses are possible, which should improve the ability to track rubella viruses worldwide. A year-by-year analysis revealed gaps in surveillance that need to be resolved in order to support the surveillance needed for enhanced control and elimination goals for rubella.

  9. Immunity to Visceral Leishmaniasis Using Genetically Defined Live-Attenuated Parasites

    Science.gov (United States)

    Selvapandiyan, Angamuthu; Dey, Ranadhir; Gannavaram, Sreenivas; Lakhal-Naouar, Ines; Duncan, Robert; Salotra, Poonam; Nakhasi, Hira L.

    2012-01-01

    Leishmaniasis is a protozoan parasitic disease endemic to the tropical and subtropical regions of the world, with three major clinical forms, self-healing cutaneous leishmaniasis (CL), mucocutaneous leishmaniasis (MCL), and visceral leishmaniasis (VL). Drug treatments are expensive and often result in the development of drug resistance. No vaccine is available against leishmaniasis. Subunit Leishmania vaccine immunization in animal models has shown some efficacy but little or none in humans. However, individuals who recover from natural infection are protected from reinfection and develop life-long protection, suggesting that infection may be a prerequisite for immunological memory. Thus, genetically altered live-attenuated parasites with controlled infectivity could achieve such memory. In this paper, we discuss development and characteristics of genetically altered, live-attenuated Leishmania donovani parasites and their possible use as vaccine candidates against VL. In addition, we discuss the challenges and other considerations in the use of live-attenuated parasites. PMID:21912560

  10. Immunity to Visceral Leishmaniasis Using Genetically Defined Live-Attenuated Parasites

    Directory of Open Access Journals (Sweden)

    Angamuthu Selvapandiyan

    2012-01-01

    Full Text Available Leishmaniasis is a protozoan parasitic disease endemic to the tropical and subtropical regions of the world, with three major clinical forms, self-healing cutaneous leishmaniasis (CL, mucocutaneous leishmaniasis (MCL, and visceral leishmaniasis (VL. Drug treatments are expensive and often result in the development of drug resistance. No vaccine is available against leishmaniasis. Subunit Leishmania vaccine immunization in animal models has shown some efficacy but little or none in humans. However, individuals who recover from natural infection are protected from reinfection and develop life-long protection, suggesting that infection may be a prerequisite for immunological memory. Thus, genetically altered live-attenuated parasites with controlled infectivity could achieve such memory. In this paper, we discuss development and characteristics of genetically altered, live-attenuated Leishmania donovani parasites and their possible use as vaccine candidates against VL. In addition, we discuss the challenges and other considerations in the use of live-attenuated parasites.

  11. Complementation of Arginine Auxotrophy for Genetic Transformation of Coxiella burnetii by Use of a Defined Axenic Medium.

    Science.gov (United States)

    Sandoz, Kelsi M; Beare, Paul A; Cockrell, Diane C; Heinzen, Robert A

    2016-05-15

    Host cell-free (axenic) culture of Coxiella burnetii in acidified citrate cysteine medium-2 (ACCM-2) has provided important opportunities for investigating the biology of this naturally obligate intracellular pathogen and enabled the development of tools for genetic manipulation. However, ACCM-2 has complex nutrient sources that preclude a detailed study of nutritional factors required for C. burnetii growth. Metabolic reconstruction of C. burnetii predicts that the bacterium cannot synthesize all amino acids and therefore must sequester some from the host. To examine C. burnetii amino acid auxotrophies, we developed a nutritionally defined medium with known amino acid concentrations, termed ACCM-D. Compared to ACCM-2, ACCM-D supported longer logarithmic growth, a more gradual transition to stationary phase, and approximately 5- to 10-fold greater overall replication. Small-cell-variant morphological forms generated in ACCM-D also showed increased viability relative to that generated in ACCM-2. Lack of growth in amino acid-deficient formulations of ACCM-D revealed C. burnetii auxotrophy for 11 amino acids, including arginine. Heterologous expression of Legionella pneumophila argGH in C. burnetii permitted growth in ACCM-D missing arginine and supplemented with citrulline, thereby providing a nonantibiotic means of selection of C. burnetii genetic transformants. Consistent with bioinformatic predictions, the elimination of glucose did not impair C. burnetii replication. Together, these results highlight the advantages of a nutritionally defined medium in investigations of C. burnetii metabolism and the development of genetic tools. Host cell-free growth and genetic manipulation of Coxiella burnetii have revolutionized research of this intracellular bacterial pathogen. Nonetheless, undefined components of growth medium have made studies of C. burnetii physiology difficult and have precluded the development of selectable markers for genetic transformation based on

  12. Genetic contribution to aging: deleterious and helpful genes define life expectancy.

    Science.gov (United States)

    Lao, J I; Montoriol, C; Morer, I; Beyer, K

    2005-12-01

    For the best understanding of aging, we must consider a genetic pool in which genes with negative effects (deleterious genes that shorten the life span) interact with genes with positive effects (helpful genes that promote longevity) in a constant epistatic relationship that results in a modulation of the final expression under particular environmental influences. Examples of deleterious genes affecting aging (predisposition to early-life pathology and disease) are those that confer risk for developing vascular disease in the heart, brain, or peripheral vessels (APOE, ACE, MTFHR, and mutation at factor II and factor V genes), a gene associated with sporadic late-onset Alzheimer's disease (APOE E4), a polymorphism (COLIA1 Sp1) associated with an increased fracture risk, and several genetic polymorphisms involved in hormonal metabolism that affect adverse reactions to estrogen replacement in postmenopausal women. In summary, the process of aging can be regarded as a multifactorial trait that results from an interaction between stochastic events and sets of epistatic alleles that have pleiotropic age-dependent effects. Lacking those alleles that predispose to disease and having the longevity-enabling genes (those beneficial genetic variants that confer disease resistance) are probably both important to such a remarkable survival advantage.

  13. Indirect genetic effects and sexual conflicts: Partner genotype influences multiple morphological and behavioral reproductive traits in a flatworm.

    Science.gov (United States)

    Marie-Orleach, Lucas; Vogt-Burri, Nadja; Mouginot, Pierick; Schlatter, Aline; Vizoso, Dita B; Bailey, Nathan W; Schärer, Lukas

    2017-05-01

    The expression of an individual's phenotypic traits can be influenced by genes expressed in its social partners. Theoretical models predict that such indirect genetic effects (IGEs) on reproductive traits should play an important role in determining the evolutionary outcome of sexual conflict. However, empirical tests of (i) whether reproductive IGEs exist, (ii) how they vary among genotypes, and (iii) whether they are uniform for different types of reproductive traits are largely lacking. We addressed this in a series of experiments in the simultaneously hermaphroditic flatworm Macrostomum lignano. We found strong evidence for IGEs on both morphological and behavioral reproductive traits. Partner genotype had a significant impact on the testis size of focal individuals-varying up to 2.4-fold-suggesting that IGEs could mediate sexual conflicts that target the male sex function. We also found that time to first copulation was affected by a genotype × genotype interaction between mating partners, and that partner genotype affected the propensity to copulate and perform the postcopulatory suck behavior, which may mediate conflicts over the fate of received ejaculate components. These findings provide clear empirical evidence for IGEs on multiple behavioral and morphological reproductive traits, which suggests that the evolutionary dynamics of these traits could be altered by genes contained in the social environment. © 2017 The Author(s). Evolution © 2017 The Society for the Study of Evolution.

  14. Association between chronological change of reproductive factors and breast cancer risk defined by hormone receptor status: results from the Seoul Breast Cancer Study.

    Science.gov (United States)

    Chung, Seokang; Park, Sue K; Sung, Hyuna; Song, Nan; Han, Wonshik; Noh, Dong-Young; Ahn, Sei-Hyun; Yoo, Keun-Young; Choi, Ji-Yeob; Kang, Daehee

    2013-08-01

    Lifestyle factors have been chronologically changed into western style ones, which could result in the rapid increase of breast cancer incidence in Korea. It is plausible that reproductive factors through hormonal mechanisms are differentially related to the risk of breast cancer subtypes. We investigated the association of reproductive risk factors on breast cancer by birth year groups and also evaluated the differential associations on the hormone receptor-defined subtypes. Using the data from the Seoul Breast Cancer Study (SeBCS), a multicenter case-control study, 3,332 breast cancer patients and 3,620 control subjects were analyzed. The distribution of subtypes among cases was as follows: 61.0 % estrogen receptor (ER)-positive, 51.9 % progesterone receptor (PR)-positive, and 43.4 % both ER/PR-positive status, respectively. Polytomous logistic regression and Wald tests for heterogeneity have been used across the subtypes. The frequencies of reproductive-related risk factors including early age at menarche, nulligravid, age at first full-term pregnancy (FFTP), duration of estrogen exposure before FFTP (EEBF), less number of children, never breastfeeding, and short duration of breastfeeding has increased as women were born later in both cases and controls, respectively (p trend breast cancer patients, either ER- or PR-positive subtypes were increased in women born in 1960s compared to women born in 1940s. Early age at menarche increased the risk of breast cancer regardless of the subtypes while nulligravid, late age at FFTP, and longer duration of EEBP were associated with hormone receptor-positive cancer risk only (p heterogeneity age at menarche, parity, age at FFTP, and duration of EEBF with breast cancer risk were different based on the hormone receptor status and birth year groups in Korea.

  15. Reproductive cloning, genetic engineering and the autonomy of the child: the moral agent and the open future.

    Science.gov (United States)

    Mameli, M

    2007-02-01

    Some authors have argued that the human use of reproductive cloning and genetic engineering should be prohibited because these biotechnologies would undermine the autonomy of the resulting child. In this paper, two versions of this view are discussed. According to the first version, the autonomy of cloned and genetically engineered people would be undermined because knowledge of the method by which these people have been conceived would make them unable to assume full responsibility for their actions. According to the second version, these biotechnologies would undermine autonomy by violating these people's right to an open future. There is no evidence to show that people conceived through cloning and genetic engineering would inevitably or even in general be unable to assume responsibility for their actions; there is also no evidence for the claim that cloning and genetic engineering would inevitably or even in general rob the child of the possibility to choose from a sufficiently large array of life plans.

  16. Conservation biology of the last Italian population of Cistus laurifolius (Cistaceae: demographic structure, reproductive success and population genetics

    Directory of Open Access Journals (Sweden)

    Giovanni Astuti

    2017-10-01

    Full Text Available Isolated populations are usually subject to low fitness and reduced genetic diversity, both of which may negatively affect their survival and adaptive potential. Hence, these issues cannot be neglected when planning conservation actions for isolated populations. The Italian population of Cistus laurifolius subsp. laurifolius is extremely isolated. Furthermore, it is affected by fragmentation, being constituted by a single larger subpopulation, surrounded by three much smaller subpopulations, a few hundred metres to a few kilometres apart. In order to fill gaps in demographic and genetic knowledge concerning the Italian population, its area of occupancy, size, age-stage structure and phenology were investigated and its reproductive fitness, pollination strategies and genetic variability were assessed. The population was inferred as fully xenogamous and showed good reproductive performance. Despite this, its genetic variability was low and it showed relatively high levels of inbreeding depression (Fis, seemingly not affected by sub-population size. These results suggest that the Italian population recently suffered fragmentation and reduction in size. The low genetic diversity observed could be explained by the high percentage of mature individuals found in the population, possibly established before fragmentation. For these reasons, the Italian population of C. laurifolius subsp. laurifolius should be monitored and concrete actions aimed at its conservation planned.

  17. Bayesian inference on field data for genetic parameters for some reproductive and related traits of Nellore cattle (Bos indicus

    Directory of Open Access Journals (Sweden)

    Carina Ubirajara de Faria

    2007-03-01

    Full Text Available We used Gibbs sampling in single and two-trait animal models to estimate genetic parameters for some reproductive and related traits of Nellore cattle (Bos indicus. Female traits were age at first calving (AFC, cumulative productivity (CP and adult weight (AW. For males, scrotal circumferences at 365 and 450 days of age were analyzed. Gibbs sampling using the ‘Multiple Trait using Gibbs Sampling under Animal Model’ (MTGSAM program of Van Tassel and Van Vleck was used to estimate the (covariance components of the traits and conduct genetic analyses. Heritabilities were AFC = 0.26, AW = 0.36 and CP = 0.25 under the single-trait animal model. The mean, mode and median estimates for genetic parameters obtained from the marginal posterior distributions were similar for all traits except AW, which presented lower values for the mode than the mean and median. However, the marginal posterior distributions for the traits studied presented a tendency toward normality. Favorable, but low, negative genetic correlations were found between male scrotal circumference and female age at first calving. The reproductive traits showed medium-magnitude heritabilities, which indicates that these traits should respond to selection and therefore should be included in genetic improvement programs.

  18. Pharmacogenomics in cancer treatment defining genetic bases for inter-individual differences in responses to chemotherapy.

    Science.gov (United States)

    Ansari, Marc; Krajinovic, Maja

    2007-02-01

    Pharmacogenomics is evolving rapidly due to the expansion of genomics and proteomics, the emerging technologies, knowledge of the molecular basis of neoplasms and of drug pathways. This article will give an update on the genetic basis of variable therapeutic responses to anticancer agents in children. The majority of recent findings concern the pharmacogenetics of key components of acute lymphoblastic leukemia treatment, 6-mercaptopurine and methotrexate. This is not surprising given that leukemia is the most common cancer affecting children, accounting for 25-35% of childhood malignancies worldwide with acute lymphoblastic leukemia comprising 80% of leukemia cases. In certain patients treatment fails due to drug resistance, rendering acute lymphoblastic leukemia the leading cause of cancer-related death in children. Most of the studies use a candidate gene approach adding a new body of evidence to existing knowledge. Recent findings relating to other childhood tumors and the potential to optimize treatment of these malignancies are briefly discussed. Interindividual differences in drug responses are an important cause of resistance to treatment and adverse drug reactions. Pharmacogenetics tends to identify the genetic basis of these suboptimal responses allowing traditional treatment to be complemented by genotype-based drug dose adjustment.

  19. Patterns of genetic and reproductive traits differentiation in Mainland vs. Corsican populations of bumblebees

    National Research Council Canada - National Science Library

    Lecocq, Thomas; Vereecken, Nicolas J; Michez, Denis; Dellicour, Simon; Lhomme, Patrick; Valterová, Irena; Rasplus, Jean-Yves; Rasmont, Pierre

    2013-01-01

    .... While phenotypic differentiation in characters, such as size or shape among insular organisms, has been well studied, insular differentiation in quantitative reproductive traits involved in chemical...

  20. A Systematic Review on Confidentiality, Disclosure, and Stigma in the United States: Lessons for HIV Care in Pregnancy From Reproductive Genetics.

    Science.gov (United States)

    Wilkinson, Barbara; Arora, Kavita Shah

    2015-01-01

    The fields of HIV care in pregnancy and reproductive genetics have always been 'exceptional' in that patients are highly concerned about the potential for stigma and the corresponding need for privacy and confidentiality. However, the two fields have diverged in how they have addressed these concerns. The systematic review analyzed 61 manuscripts for similarities and differences between the fields of HIV care in pregnancy and reproductive genetics in the United States, with respect to privacy, confidentiality, disclosure, and stigma. The systematic review revealed that the field of HIV care in pregnancy has insufficiently addressed patient concerns about privacy, confidentiality, and stigma compared to the field of reproductive genetics. Failure to adequately protect confidentiality of HIV-positive patients, and failure to reduce stigma associated with HIV testing and treatment are deficiencies in the delivery of care to HIV-positive pregnant woman and barriers to reducing vertical transmission of HIV. Improvements in care and policy should mirror the field of reproductive genetics.

  1. Genetic variation and reproductive timing: African American women from the Population Architecture using Genomics and Epidemiology (PAGE Study.

    Directory of Open Access Journals (Sweden)

    Kylee L Spencer

    Full Text Available Age at menarche (AM and age at natural menopause (ANM define the boundaries of the reproductive lifespan in women. Their timing is associated with various diseases, including cancer and cardiovascular disease. Genome-wide association studies have identified several genetic variants associated with either AM or ANM in populations of largely European or Asian descent women. The extent to which these associations generalize to diverse populations remains unknown. Therefore, we sought to replicate previously reported AM and ANM findings and to identify novel AM and ANM variants using the Metabochip (n = 161,098 SNPs in 4,159 and 1,860 African American women, respectively, in the Women's Health Initiative (WHI and Atherosclerosis Risk in Communities (ARIC studies, as part of the Population Architecture using Genomics and Epidemiology (PAGE Study. We replicated or generalized one previously identified variant for AM, rs1361108/CENPW, and two variants for ANM, rs897798/BRSK1 and rs769450/APOE, to our African American cohort. Overall, generalization of the majority of previously-identified variants for AM and ANM, including LIN28B and MCM8, was not observed in this African American sample. We identified three novel loci associated with ANM that reached significance after multiple testing correction (LDLR rs189596789, p = 5×10⁻⁰⁸; KCNQ1 rs79972789, p = 1.9×10⁻⁰⁷; COL4A3BP rs181686584, p = 2.9×10⁻⁰⁷. Our most significant AM association was upstream of RSF1, a gene implicated in ovarian and breast cancers (rs11604207, p = 1.6×10⁻⁰⁶. While most associations were identified in either AM or ANM, we did identify genes suggestively associated with both: PHACTR1 and ARHGAP42. The lack of generalization coupled with the potentially novel associations identified here emphasize the need for additional genetic discovery efforts for AM and ANM in diverse populations.

  2. Improving toxicity screening and drug development by using genetically defined strains.

    Science.gov (United States)

    Festing, Michael F W

    2010-01-01

    According to the US Food and Drugs Administration (Food and Drug Administration (2004) Challenge and opportunity on the critical path to new medical products.) "The inability to better assess and predict product safety leads to failures during clinical development and, occasionally, after marketing". This increases the cost of new drugs as clinical trials are even more expensive than pre-clinical testing.One relatively easy way of improving toxicity testing is to improve the design of animal experiments. A fundamental principle when designing an experiment is to control all variables except the one of interest: the treatment. Toxicologist and pharmacologists have widely ignored this principle by using genetically heterogeneous "outbred" rats and mice, increasing the chance of false-negative results. By using isogenic (inbred or F1 hybrid, see Note 1) rats and mice instead of outbred stocks the signal/noise ratio and the power of the experiments can be increased at little extra cost whilst using no more animals. Moreover, the power of the experiment can be further increased by using more than one strain, as this reduces the chance of selecting one which is resistant to the test chemical. This can also be done without increasing the total number of animals by using a factorial experimental design, e.g. if the ten outbred animals per treatment group in a 28-day toxicity test were replaced by two animals of each of five strains (still ten animals per treatment group) selected to be as genetically diverse as possible, this would increase the signal/noise ratio and power of the experiment. This would allow safety to be assessed using the most sensitive strain.Toxicologists should also consider making more use of the mouse instead of the rat. They are less costly to maintain, use less test substance, there are many inbred and genetically modified strains, and it is easier to identify gene loci controlling variation in response to xenobiotics in this species.We demonstrate

  3. Defining management units for cetaceans by combining genetics, morphlogy, acoustics and satellite tracking

    DEFF Research Database (Denmark)

    Sveegaard, Signe; Galatius, Anders; Dietz, Rune

    2015-01-01

    Managing animal units is essential in biological conservation and requires spatial and temporal identification of such units. Since even neighbouring populations often have different conservation status and face different levels of anthropogenic pressure, detailed knowledge of population structure...... higher west of 13.5°E as compared to east of 13.5°E. By using this novel multidisciplinary approach, we defined a management unit for the BS harbour porpoise population. We recommend that these boundaries are used for future monitoring efforts of this population under the EU directives. The boundaries...

  4. Alteration of sexual reproduction and genetic diversity in the kelp species Laminaria digitata at the southern limit of its range.

    Directory of Open Access Journals (Sweden)

    Luz Valeria Oppliger

    Full Text Available Adaptation to marginal habitats at species range-limits has often been associated with parthenogenetic reproduction in terrestrial animals and plants. Laboratory observations have shown that brown algae exhibit a high propensity for parthenogenesis by various mechanisms. The kelp Laminaria digitata is an important component of the ecosystem in Northern European rocky intertidal habitats. We studied four L. digitata populations for the effects of marginality on genetic diversity and sexual reproduction. Two populations were marginal: One (Locquirec, in Northern Brittany was well within the geographic range, but was genetically isolated from other populations by large stretches of sandy beaches. Another population was at the range limits of the species (Quiberon, in Southern Brittany and was exposed to much higher seasonal temperature changes. Microsatellite analyses confirmed that these populations showed decreased genetic and allelic diversity, consistent with marginality and genetic isolation. Sporophytes from both marginal populations showed greatly diminished spore-production compared to central populations, but only the southern-limit population (Quiberon showed a high propensity for producing unreduced (2N spores. Unreduced 2N spores formed phenotypically normal gametophytes with nuclear area consistent with ≥2N DNA contents, and microsatellite studies suggested these were produced at least in part by automixis. However, despite this being the dominant path of spore production in Quiberon sporophyte individuals, the genetic evidence indicated the population was maintained mostly by sexual reproduction. Thus, although spore production and development showed the expected tendency of geographical parthenogenesis in marginal populations, this appeared to be a consequence of maladaptation, rather than an adaptation to, life in a marginal habitat.

  5. Implementing an evolutionary framework for understanding genetic relationships of phenotypically defined insect biotypes in the invasive soybean aphid (Aphis glycines)

    Science.gov (United States)

    Wenger, Jacob A; Michel, Andy P

    2013-01-01

    Adaptive evolution of pest insects in response to the introduction of resistant cultivars is well documented and commonly results in virulent (i.e., capable of feeding upon resistant cultivars) insect populations being labeled as distinct biotypes. Phenotypically defined, biotypes frequently remain evolutionarily indistinct, resulting in ineffective application of virulence control measures and shorter durability of resistant cultivars. Here, we utilize an evolutionary framework to discern the genetic relationship between biotypes of the soybean aphid (Aphis glycines, Matsumura). The soybean aphid is invasive in North America and is among the most destructive pests of commercial soybean on the continent. Attempts to breed host-plant-resistant soybean have been hampered by the emergence of virulent aphid biotypes that are unaffected by the plant's resistance mechanism(s). Comparative population genetic analysis of virulent and avirulent (i.e., unable to feed on resistant cultivars) biotypes found populations to be genetically indistinguishable across biotype and geographic distance, with high rates of interpopulation immigration and admixture. The lack of genetic distinction between biotypes coupled with elevated genotypic diversity within all populations suggested virulence has a nongenetic-based or includes a gene complex that is widely distributed throughout soybean aphid populations, which undergo regular dispersal and unimpeded sexual recombination. PMID:24187586

  6. A set of highly informative rat simple sequence length polymorphism (SSLP markers and genetically defined rat strains

    Directory of Open Access Journals (Sweden)

    Yamasaki Ken-ichi

    2006-04-01

    Full Text Available Abstract Background The National Bio Resource Project for the Rat in Japan (NBRP-Rat is focusing on collecting, preserving and distributing various rat strains, including spontaneous mutant, transgenic, congenic, and recombinant inbred (RI strains. To evaluate their value as models of human diseases, we are characterizing them using 109 phenotypic parameters, such as clinical measurements, internal anatomy, metabolic parameters, and behavioral tests, as part of the Rat Phenome Project. Here, we report on a set of 357 simple sequence length polymorphism (SSLP markers and 122 rat strains, which were genotyped by the marker set. Results The SSLP markers were selected according to their distribution patterns throughout the whole rat genome with an average spacing of 7.59 Mb. The average number of informative markers between all possible pairs of strains was 259 (72.5% of 357 markers, showing their high degree of polymorphism. From the genetic profile of these rat inbred strains, we constructed a rat family tree to clarify their genetic background. Conclusion These highly informative SSLP markers as well as genetically and phenotypically defined rat strains are useful for designing experiments for quantitative trait loci (QTL analysis and to choose strategies for developing new genetic resources. The data and resources are freely available at the NBRP-Rat web site 1.

  7. Quantitative trait loci define genes and pathways underlying genetic variation in longevity.

    Science.gov (United States)

    Shmookler Reis, Robert J; Kang, Ping; Ayyadevara, Srinivas

    2006-10-01

    Quantitative trait locus (QTL) mapping provides a means to discover and roughly position regions of the genome that harbor genes responsible for natural variation in a complex trait. QTL mapping has been utilized extensively in the pursuit of genes contributing to longevity, chiefly in two animal models, the nematode Caenorhabditis elegans and the dipteran insect Drosophila melanogaster. Research on both species has demonstrated that a relatively small set of loci accounts for most of their genetic variance in lifespan. QTL mapping complements the discovery of longevity genes by mutagenesis screens, because the two procedures are predicted to unveil overlapping but distinct types of genes. We argue that information gained from animal models, even invertebrates, can greatly facilitate the process of gene identification and testing of homologous genes in humans.

  8. Draft genome sequence, and a sequence-defined genetic linkage map of the legume crop species Lupinus angustifolius L.

    Science.gov (United States)

    Yang, Huaan; Tao, Ye; Zheng, Zequn; Zhang, Qisen; Zhou, Gaofeng; Sweetingham, Mark W; Howieson, John G; Li, Chengdao

    2013-01-01

    Lupin (Lupinus angustifolius L.) is the most recently domesticated crop in major agricultural cultivation. Its seeds are high in protein and dietary fibre, but low in oil and starch. Medical and dietetic studies have shown that consuming lupin-enriched food has significant health benefits. We report the draft assembly from a whole genome shotgun sequencing dataset for this legume species with 26.9x coverage of the genome, which is predicted to contain 57,807 genes. Analysis of the annotated genes with metabolic pathways provided a partial understanding of some key features of lupin, such as the amino acid profile of storage proteins in seeds. Furthermore, we applied the NGS-based RAD-sequencing technology to obtain 8,244 sequence-defined markers for anchoring the genomic sequences. A total of 4,214 scaffolds from the genome sequence assembly were aligned into the genetic map. The combination of the draft assembly and a sequence-defined genetic map made it possible to locate and study functional genes of agronomic interest. The identification of co-segregating SNP markers, scaffold sequences and gene annotation facilitated the identification of a candidate R gene associated with resistance to the major lupin disease anthracnose. We demonstrated that the combination of medium-depth genome sequencing and a high-density genetic linkage map by application of NGS technology is a cost-effective approach to generating genome sequence data and a large number of molecular markers to study the genomics, genetics and functional genes of lupin, and to apply them to molecular plant breeding. This strategy does not require prior genome knowledge, which potentiates its application to a wide range of non-model species.

  9. A Multistate Toggle Switch Defines Fungal Cell Fates and Is Regulated by Synergistic Genetic Cues.

    Directory of Open Access Journals (Sweden)

    Matthew Z Anderson

    2016-10-01

    Full Text Available Heritable epigenetic changes underlie the ability of cells to differentiate into distinct cell types. Here, we demonstrate that the fungal pathogen Candida tropicalis exhibits multipotency, undergoing stochastic and reversible switching between three cellular states. The three cell states exhibit unique cellular morphologies, growth rates, and global gene expression profiles. Genetic analysis identified six transcription factors that play key roles in regulating cell differentiation. In particular, we show that forced expression of Wor1 or Efg1 transcription factors can be used to manipulate transitions between all three cell states. A model for tristability is proposed in which Wor1 and Efg1 are self-activating but mutually antagonistic transcription factors, thereby forming a symmetrical self-activating toggle switch. We explicitly test this model and show that ectopic expression of WOR1 can induce white-to-hybrid-to-opaque switching, whereas ectopic expression of EFG1 drives switching in the opposite direction, from opaque-to-hybrid-to-white cell states. We also address the stability of induced cell states and demonstrate that stable differentiation events require ectopic gene expression in combination with chromatin-based cues. These studies therefore experimentally test a model of multistate stability and demonstrate that transcriptional circuits act synergistically with chromatin-based changes to drive cell state transitions. We also establish close mechanistic parallels between phenotypic switching in unicellular fungi and cell fate decisions during stem cell reprogramming.

  10. Sweating the small stuff: microRNAs and genetic changes define pancreatic cancer.

    Science.gov (United States)

    Tang, Siuwah; Bonaroti, Jillian; Unlu, Sebnem; Liang, Xiaoyan; Tang, Daolin; Zeh, Herbert J; Lotze, Michael T

    2013-07-01

    MicroRNAs (miRNAs) are 18- to 22-nucleotide-long, single-stranded, noncoding RNAs that regulate important biological processes including differentiation, proliferation, and response to cellular stressors such as hypoxia, nutrient depletion, and traversion of the cell cycle by controlling protein expression within the cell. Many investigators have profiled cancer tissue and serum miRNAs to identify potential therapeutic targets, understand the pathways involved in tumorigenesis, and identify diagnostic tumor signatures. In the setting of pancreatic cancer, obtaining pancreatic tissue is invasive and impractical for early diagnosis. Several groups have profiled miRNAs that are present in the blood as a means to diagnose tumor progression and predict prognosis/survival or drug resistance. Several miRNA signatures found in pancreatic tissue and the peripheral blood, as well as the pathways that are associated with pancreatic cancer, are reviewed here in detail. Three miRNA biomarkers (miR-21, miR-155, and miR-200) have been repetitively identified in both pancreatic cancer tissue and patients' blood. Those miRNAs regulate and are regulated by the central genetic and epigenetic changes observed in pancreatic cancer including p53, transforming growth factor β, p16(INK4A), BRCA1/2, and Kras. These miRNAs are involved in DNA repair, cell cycle, and cell invasion and also play important roles in promoting metastases.

  11. Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders.

    Directory of Open Access Journals (Sweden)

    Manu Jokela

    Full Text Available The objective of this study was to characterize and compare muscle histopathological findings in 3 different genetic motor neuron disorders. We retrospectively re-assessed muscle biopsy findings in 23 patients with autosomal dominant lower motor neuron disease caused by p.G66V mutation in CHCHD10 (SMAJ, 10 X-linked spinal and bulbar muscular atrophy (SBMA and 11 autosomal dominant c9orf72-mutated amyotrophic lateral sclerosis (c9ALS patients. Distinct large fiber type grouping consisting of non-atrophic type IIA muscle fibers were 100% specific for the late-onset spinal muscular atrophies (SMAJ and SBMA and were never observed in c9ALS. Common, but less specific findings included small groups of highly atrophic rounded type IIA fibers in SMAJ/SBMA, whereas in c9ALS, small group atrophies consisting of small-caliber angular fibers involving both fiber types were more characteristic. We also show that in the 2 slowly progressive motor neuron disorders (SMAJ and SBMA the initial neurogenic features are often confused with considerable secondary "myopathic" changes at later disease stages, such as rimmed vacuoles, myofibrillar aggregates and numerous fibers reactive for fetal myosin heavy chain (dMyHC antibodies. Based on our findings, muscle biopsy may be valuable in the diagnostic work-up of suspected motor neuron disorders in order to avoid a false ALS diagnosis in patients without clear findings of upper motor neuron lesions.

  12. Quantitative Genetics Model as the Unifying Model for Defining Genomic Relationship and Inbreeding Coefficient

    Science.gov (United States)

    Wang, Chunkao; Da, Yang

    2014-01-01

    The traditional quantitative genetics model was used as the unifying approach to derive six existing and new definitions of genomic additive and dominance relationships. The theoretical differences of these definitions were in the assumptions of equal SNP effects (equivalent to across-SNP standardization), equal SNP variances (equivalent to within-SNP standardization), and expected or sample SNP additive and dominance variances. The six definitions of genomic additive and dominance relationships on average were consistent with the pedigree relationships, but had individual genomic specificity and large variations not observed from pedigree relationships. These large variations may allow finding least related genomes even within the same family for minimizing genomic relatedness among breeding individuals. The six definitions of genomic relationships generally had similar numerical results in genomic best linear unbiased predictions of additive effects (GBLUP) and similar genomic REML (GREML) estimates of additive heritability. Predicted SNP dominance effects and GREML estimates of dominance heritability were similar within definitions assuming equal SNP effects or within definitions assuming equal SNP variance, but had differences between these two groups of definitions. We proposed a new measure of genomic inbreeding coefficient based on parental genomic co-ancestry coefficient and genomic additive correlation as a genomic approach for predicting offspring inbreeding level. This genomic inbreeding coefficient had the highest correlation with pedigree inbreeding coefficient among the four methods evaluated for calculating genomic inbreeding coefficient in a Holstein sample and a swine sample. PMID:25517971

  13. Using genetic algorithm to define the governor parameters of a hydraulic turbine

    Energy Technology Data Exchange (ETDEWEB)

    Andrade, J G P; Ribeiro, L C L J [School of Technology, UNICAMP Rua Paschoal Marmo, 1888, Limeira, Postal Code:13484-332 (Brazil); Junior, E L, E-mail: josegeraldo@ft.unicamp.b [School of Civil Engineering, Architecture and Urbanism, UNICAMP Avenida Albert Einstein, 951, Campinas, Postal Code: 13083-852 (Brazil)

    2010-08-15

    There are several governor architectures, but in general, all of them are designed to maintain the controlled variable fluctuations within acceptable range. The Proportional, Integral and Derivative (PID) governor is one of the types used to regulate a hydraulic turbine, in which the deviation of the variable controlled is corrected through earnings proportional, integral and derivative. For a definition of the governor parameters and its stability analysis there are several methods that in general can be classified into a time domain and frequency domain. The frequency domain method, based on the control theory, have ease application, expeditious manner of obtaining the parameters, but the physical phenomena involved are linearized. However the time domain methods are more difficult to be applied, but have the advantage of being able to take into account the non-linearities presents in physical phenomena. Despite the time-domain method offers advantages, it does not provides a structured way to optimize the parameters of the governor, since the parameters are obtained through simulations with adopted values. This paper presents a methodology to obtain the turbine governor appropriate parameters through a hybrid model (simulation and optimization model), based on method of characteristic to the hydraulic simulation (time domain) and Genetic Algorithm (GA) to obtain appropriate values. Examples are presented showing the application of the proposed methodology.

  14. Genetic parameters estimation for preweaning traits and their relationship with reproductive, productive and morphological traits in alpaca.

    Science.gov (United States)

    Cruz, A; Cervantes, I; Burgos, A; Morante, R; Gutiérrez, J P

    2017-05-01

    The aim of this study was to estimate the genetic parameters for preweaning traits and their relationship with reproductive, productive and morphological traits in alpacas. The data were collected from 2001 to 2015 in the Pacomarca experimental farm. The data set contained data from 4330 females and 3788 males corresponding to 6396 and 1722 animals for Huacaya and Suri variants, respectively. The number of records for Huacaya and Suri variants were 5494 and 1461 for birth weight (BW), 5429 and 1431 for birth withers height (BH), 3320 and 896 for both weaning weight (WW) and average daily gain (DG) from birth to weaning, 3317 and 896 for weaning withers height (WH), and 5514 and 1474 for survival to weaning. The reproductive traits analyzed were age at first calving and calving interval. The fiber traits were fiber diameter (FD), standard deviation of FD (SD), comfort factor and coefficient of variation of FD and the morphological traits studied were density, crimp in Huacaya and lock structure in Suri, head, coverage and balance. Regarding preweaning traits, model of analysis included additive, maternal and residual random effects for all traits, with sex, coat color, number of calving, month-year and contemporary group as systematic effects, and age at weaning as linear covariate for WW and WH. The most relevant direct heritabilities for Huacaya and Suri were 0.50 and 0.34 for WW, 0.36 and 0.66 for WH, 0.45 and 0.20 for DG, respectively. Maternal heritabilities were 0.25 and 0.38 for BW, 0.18 and 0.32 for BH, 0.29 and 0.39 for WW, 0.19 and 0.26 for WH, 0.27 and 0.36 for DG, respectively. Direct genetic correlations within preweaning traits were high and favorable and lower between direct and maternal genetic effects. The genetic correlations of preweaning traits with fiber traits were moderate and unfavorable. With morphological traits they were high and positive for Suri but not for Huacaya and favorable for direct genetic effect but unfavorable for maternal

  15. Defining conservation units in a stocking-induced genetic melting pot: unraveling native and multiple exotic genetic imprints of recent and historical secondary contact in Adriatic grayling.

    Science.gov (United States)

    Meraner, Andreas; Cornetti, Luca; Gandolfi, Andrea

    2014-04-01

    The definition of conservation units is crucial for the sustainable management of endangered species, though particularly challenging when recent and past anthropogenic and natural gene flow might have played a role. The conservation of the European grayling, Thymallus thymallus, is particularly complex in its southern distribution area, where the Adriatic evolutionary lineage is endangered by a long history of anthropogenic disturbance, intensive stocking and potentially widespread genetic introgression. We provide mtDNA sequence and microsatellite data of 683 grayling from 30 sites of Adriatic as well as Danubian and Atlantic origin. We apply Bayesian clustering and Approximate Bayesian Computation (ABC) to detect microgeographic population structure and to infer the demographic history of the Adriatic populations, to define appropriate conservation units. Varying frequencies of indigenous genetic signatures of the Adriatic grayling were revealed, spanning from marginal genetic introgression to the collapse of native gene pools. Genetic introgression involved multiple exotic source populations of Danubian and Atlantic origin, thus evidencing the negative impact of few decades of stocking. Within the Adige River system, a contact zone of western Adriatic and eastern Danubian populations was detected, with ABC analyses suggesting a historical anthropogenic origin of eastern Adige populations, most likely founded by medieval translocations. Substantial river-specific population substructure within the Adriatic grayling Evolutionary Significant Unit points to the definition of different conservation units. We finally propose a catalog of management measures, including the legal prohibition of stocking exotic grayling and the use of molecular markers in supportive- and captive-breeding programs.

  16. Defined morphological criteria allow reliable diagnosis of colorectal serrated polyps and predict polyp genetics.

    Science.gov (United States)

    Rau, Tilman T; Agaimy, Abbas; Gehoff, Anastasia; Geppert, Carol; Jung, Klaus; Knobloch, Katharina; Langner, Cord; Lugli, Alessandro; Groenbus-Lurkin, Irene; Nagtegaal, Iris D; Rüschoff, Josef; Saegert, Xavier; Sarbia, Mario; Schneider-Stock, Regine; Vieth, Michael; Zwarthoff, Ellen C; Hartmann, Arndt

    2014-06-01

    Criteria for the diagnosis of serrated colorectal lesions (hyperplastic polyp, sessile serrated adenoma without or with dysplasia--which we called mixed polyp--and traditional serrated adenoma) for which consensus has been reached should be validated for applicability in daily practice in terms of inter-observer reproducibility and their association with clinical features and (epi)genetic events. A study set was created from a consecutive series of colorectal polyps (n = 1,926) by selecting all sessile serrated adenomas, traditional serrated adenomas and mixed polyps. We added consecutive series of hyperplastic polyps, classical adenomas and normal mucosa samples for a total of 200 specimens. With this series, we conducted an inter-observer study, encompassing ten pathologists with gastrointestinal pathology experience from five European countries, in three rounds in which all cases were microscopically evaluated. An assessment of single morphological criteria was included, and these were correlated with clinical parameters and the mutation status of KRAS, BRAF and PIK3CA and the methylation status of MLH1. Gender, age and localisation were significantly associated with certain types of lesions. Kappa statistics revealed moderate to good inter-observer agreement for polyp classification (κ = 0.56 to 0.63), but for single criteria, this varied considerably (κ = 0.06 to 0.82). BRAF mutations were frequently found in hyperplastic polyps (86 %, 62/72) and sessile serrated adenomas (80 %, 41/51). KRAS mutations occurred more frequently in traditional serrated adenomas (78 %, 7/9) and less so in classical adenomas (20 %, 10/51). Single morphological criteria for sessile serrated adenomas showed significant correlation with BRAF mutation (all p ≤ 0.001), and those for classical adenomas or traditional serrated adenoma correlated significantly with KRAS mutation (all p polyps.

  17. Genetic variants affecting meat and milk production traits appear to have effects on reproduction traits in cattle.

    Science.gov (United States)

    Collis, E; Fortes, M R S; Zhang, Y; Tier, B; Schutt, K; Barendse, W; Hawken, R

    2012-08-01

    Polymorphisms located in the genes ABCG2, DGAT1, LEP, PRLR, RORC, CAPN1 and CAST previously have been associated with milk or meat production traits. In this study, these polymorphisms were examined for significant effects on reproductive traits [age at puberty (AGECL), post-partum anoestrus interval (PPAI) and the ability ovulate prior to weaning (PW)] and on a panel of correlated traits such as weight, growth and serum concentration of insulin-like growth factor I. The effects of the polymorphisms were examined in two samples of tropically adapted beef cattle: Brahman (N = 932) and Tropical Composites (N = 1097). A polymorphism in the gene DGAT1 was associated with age at puberty in the combined sample (P = 0.042), and two polymorphisms in CAPN1 were associated with PPAI (P = 0.033) and with the ability ovulate PW (P = 0.017). The favourable allele for reproductive traits was not always the favourable allele associated with production traits. The effects of these polymorphisms on reproductive traits were small compared to their effects on the traits for which they were originally discovered. © 2011 The Authors, Animal Genetics © 2011 Stichting International Foundation for Animal Genetics.

  18. Genetic markers, which define the occurrence and course of bronchial asthma in children

    Directory of Open Access Journals (Sweden)

    Banadyha N.V.

    2016-03-01

    Full Text Available Purpose: to analyze the frequency of polymorphic loci associations rs 1042713 (Arg16Gly of ADRβ2 gene in children with bronchial asthma. Patients and methods: in-depth clinical examination using the special methods of investigation, conducted to 62 children suffering from bronchial asthma. The results of investigation. As a result of depth collection of anamnesis, it was revealed that in 73.68% of patients the anamnesis was unburdened. Among the examined patients, bronchial asthma manifested at the early age in 18 children (33.96% in preschool age in 17 children (32.08%, and in a primary school in 18 children (33.96%. The early debut of disease associated with genotype Arg16Gly, while late manifestation observed in children with genotype Gly16Gly. Mostly the family inheritance depends on mother health, regardless of the severity of bronchial asthma. Іt was found that in both types of inheritance (paternal and maternal dominated genotype Arg16Gly. Found that girls often associated with asthma genotype Gly16Gly (56.52% and Arg16Gly (39.13% while the boys with genotype Arg16Gly (53.84%, less with Gly16Gly (38.89%. However, genotype Arg16Arg was observed in individual patients and in the case of intermittent disease. In case of allergen-induced and virus-induced phenotypes the genotype Arg16Gly was more often diagnosed. It was clarified that intermittent flow associated with two genotypes: Arg16Gly (47.37% and Gly16Gly (42.11%. The persistent mild course of bronchial asthma replied to genotype Gly16Gly (64.71%, but with moderate persistent — to Arg16Gly (57.69%. A good bronchodilator response was observed in patients with genotype diagnosed Arg16Gly and Gly16Gly. At the same time, patients with genotype Arg16Arg ADRβ2 needed the use of combined drugs to overcome the attack. Conclusions: Allelic polymorphism differences of ADRβ2 gene in children with asthma were diagnosed and it indicates that dependence of debut was genetically based as well

  19. An association study of established breast cancer reproductive and lifestyle risk factors with tumour subtype defined by the prognostic 70-gene expression signature (MammaPrint®).

    Science.gov (United States)

    Makama, M; Drukker, C A; Rutgers, E J Th; Slaets, L; Cardoso, F; Rookus, M A; Tryfonidis, K; Van't Veer, L J; Schmidt, M K

    2017-04-01

    Reproductive and lifestyle factors influence both breast cancer risk and prognosis; this might be through breast cancer subtype. Subtypes defined by immunohistochemical hormone receptor markers and gene expression signatures are used to predict prognosis of breast cancer patients based on their tumour biology. We investigated the association between established breast cancer risk factors and the 70-gene prognostication signature in breast cancer patients. Standardised questionnaires were used to obtain information on established risk factors of breast cancer from the Dutch patients of the MINDACT trial. Clinical-pathological and genomic information were obtained from the trial database. Logistic regression analyses were used to estimate the associations between lifestyle risk factors and tumour prognostic subtypes, measured by the 70-gene MammaPrint® signature (i.e. low-risk or high-risk tumours). Of the 1555 breast cancer patients included, 910 had low-risk and 645 had high-risk tumours. Current body mass index (BMI), age at menarche, age at first birth, age at menopause, hormonal contraceptive use and hormone replacement therapy use were not associated with MammaPrint®. In parous women, higher parity was associated with a lower risk (OR: 0.75, [95% confidence interval {CI}: 0.59-0.95] P = 0.018) and longer breastfeeding duration with a higher risk (OR: 1.03, [95% CI: 1.01-1.05] P = 0.005) of developing high-risk tumours; risk estimates were similar within oestrogen receptor-positive disease. After stratifying by menopausal status, the associations remained present in post-menopausal women. Using prognostic gene expression profiles, we have indications that specific reproductive factors may be associated with prognostic tumour subtypes beyond hormone receptor status. Copyright © 2017 Elsevier Ltd. All rights reserved.

  20. Cow-calf reproductive, genetic, and nutritional management to improve the sustainability of whole beef production systems.

    Science.gov (United States)

    White, R R; Brady, M; Capper, J L; McNamara, J P; Johnson, K A

    2015-06-01

    Optimizing efficiency in the cow-calf sector is an important step toward improving beef sustainability. The objective of the study was to use a model to identify the relative roles of reproductive, genetic, and nutritional management in minimizing beef production systems' environmental impact in an economically viable, socially acceptable manner. An economic and environmental diet optimizer was used to identify ideal nutritional management of beef production systems varying in genetic and reproductive technology use. Eight management scenarios were compared to a least cost baseline: average U.S. production practices (CON), CON with variable nutritional management (NUT), twinning cattle (TWN), early weaning (EW), sire selection by EPD using either on-farm bulls (EPD-B) or AI (EPD-AI), decreasing the calving window (CW), or selecting bulls by EPD and reducing the calving window (EPD-CW). Diets to minimize land use, water use, and/or greenhouse gas (GHG) emissions were optimized under each scenario. Increases in diet cost attributable to reducing environmental impact were constrained to less than stakeholder willingness to pay for improved efficiency and reduced environmental impact. Baseline land use, water use, and GHG emissions were 188 m, 712 L, and 21.9 kg/kg HCW beef. The NUT scenario, which assessed opportunities to improve sustainability by altering nutritional management alone, resulted in a simultaneous 1.5% reduction in land use, water use, and GHG emissions. The CW scenario improved calf uniformity and simultaneously decreased land use, water use, and GHG emissions by 3.2%. Twinning resulted in a 9.2% reduction in the 3 environmental impact metrics. The EW scenario allowed for an 8.5% reduction in the 3 metrics. The EPD-AI scenario resulted in an 11.1% reduction, which was comparable to the 11.3% reduction achieved by EPD-B in the 3 metrics. Improving genetic selection by using AI or by purchasing on-farm bulls based on their superior EPD demonstrated

  1. Genetic analysis of ORF5 porcine reproductive and respiratory syndrome virus isolated in Vietnam.

    Science.gov (United States)

    Thuy, Nguyen Thi Dieu; Thu, Nguyen Thi Dieu; Son, Nguyen Giang; Ha, Le Thi Thu; Hung, Vo Khanh; Nguyen, Nguyen Thao; Khoa, Do Vo Anh

    2013-07-01

    Porcine reproductive and respiratory syndrome virus (PRRSV) is one of the most economically important swine pathogens because it is highly infectious and causes economic losses due to decreased pig productivity. In this study, the 603 bp complete major envelope protein encoding gene (ORF5) of 32 field PRRSV isolates from Vietnam collected during 2008-2012 were sequenced and analyzed. Multiple nucleotide (nt) and deduced amino acid (aa) alignments of ORF5 were performed on the 32 isolates: the representative strains (European and North American genotypes), Chinese strains available in GenBank and vaccine strains licensed for use in Vietnam. The results showed 94.8-100.0% nt identity and 94.0-100% aa similarity among the 32 isolates. These isolates shared similarities with the prototype of the North American PRRSV strain (VR-2332; nt 87.8-89.3%, aa 87.5-90.0%), and Lelystat virus, the prototype of the European PRRSV strain (LV; nt 61.1-61.9%, aa 55.1-57.0%). There was greater similarity with QN07 (nt 96.5-98.5%, aa 96.0-99.0%) from the 2007 PRRS outbreak in QuangNam Province, CH-1a (nt 93.2-95.1%, 91.5-93.5%) isolated in China in 1995 and JXA1 (nt 96.5-98.6%, aa 95.0-98.0%), the highly pathogenic strain from China isolated in 2006. The Vietnamese isolates were more similar to JXA1-R (nt 96.5-98.6%, aa 95.0-98.0%), the strain used in Chinese vaccines, than to Ingelvac MLV/BSL-PS (nt 87.2-89.0%, aa 86.0-89.0%). Phylogenetic analysis showed that the 32 isolates were of the North American genotype and classified into sub-lineage 8.7. This sub-lineage contains highly pathogenic Chinese PRRSV strains. This study documents genetic variation in circulating PRRSV strains and could assist more effective use of PRRS vaccines in Vietnam. © 2013 The Societies and Wiley Publishing Asia Pty Ltd.

  2. Effect of including genetic progress in milk yield on evaluating the use of sexed semen and other reproduction strategies in a dairy herd

    DEFF Research Database (Denmark)

    Ettema, Jehan Frans; Østergaard, Søren; Sørensen, M K

    2010-01-01

    strategies based on the phenotypical states of the individual animals over a number of years. Typically, the genetic levels of replacement heifers in these models are not different from those of the culling candidates in the herd; continuous genetic improvement in the population is ignored. The importance...... of including genetic progress when evaluating reproductive strategies with simulation models has not been explored. Improved reproductive efficiency does allow a higher selection intensity of which cows to stay in the herd and give birth to own young stock....

  3. Genetic selection on abdominal fat content alters the reproductive performance of broilers.

    Science.gov (United States)

    Zhang, X Y; Wu, M Q; Wang, S Z; Zhang, H; Du, Z Q; Li, Y M; Cao, Z P; Luan, P; Leng, L; Li, H

    2017-10-25

    The effects of obesity on reproduction have been widely reported in humans and mice. The present study was designed to compare the reproductive performance of lean and fat chicken lines, divergently selected for abdominal fat content. The following parameters were determined and analyzed in the two lines: (1) reproductive traits, including age at first egg and total egg numbers from generations 14 to 18, absolute and relative testicular weights at 7, 14, 25, 30, 45 and 56 weeks of age, semen quality at 30, 45 and 56 weeks of age in generation 18, and fertility and hatchability from generations 14 to 18; (2) reproductive hormones at 7, 14, 25, 30, 45 and 56 weeks of age in generation 18; (3) and the relative mRNA abundance of genes involved in reproduction at 7, 14, 25, 30, 45 and 56 weeks of age in generation 18. In females, birds in the lean line laid more eggs from the first egg to 40 weeks of age than the birds in the fat line. In male broilers, the birds in the lean line had higher absolute and relative testicular weights at 7, 14 and 25 weeks of age, but lower absolute and relative testicular weights at 56 weeks of age than the birds in the fat line. Male birds in the lean line had greater sperm concentrations and larger numbers of motile and morphologically normal sperms at 30, 45 and 56 weeks of age than the birds in the fat line. Fertility and hatchability were also higher in the lean line than in the fat line. Significant differences in the plasma levels of reproductive hormones and the expression of reproduction-associated genes were also found at different ages in the lean and fat birds, in both males and females. These results suggest that reproductive performance is better in lean birds than in fat birds. In view of the unique divergent lines used in this study, these results imply that selecting for abdominal fat deposition negatively affects the reproductive performance of birds.

  4. Large contribution of clonal reproduction to the distribution of deciduous liana species (Wisteria floribunda) in an old-growth cool temperate forest: evidence from genetic analysis.

    Science.gov (United States)

    Mori, Hideki; Ueno, Saneyoshi; Matsumoto, Asako; Kamijo, Takashi; Tsumura, Yoshihiko; Masaki, Takashi

    2017-12-25

    Extensive clonal (vegetative) reproduction in lianas is a common and important life history strategy for regeneration and colonization success. However, few studies have evaluated the contribution of clonal reproduction to stand-level distribution of lianas in their natural habitat using genetic tools. The objectives of the present study were to investigate (1) the contribution of clonal reproduction to the distribution of Wisteria floribunda, (2) the size of clonal patches and (3) how the distribution patterns of W. floribunda clones are affected by micro-topography. The contribution of clonal reproduction to the distribution of the deciduous liana species W. floribunda was evaluated using genetic analysis across a 6-ha plot of an old-growth temperate forest in Japan and preference in landform between clonal ramets and non-clonal ramets was assessed. Of the 391 ramets sampled, clonal reproduction contributed to 71 and 62 % of the total abundance and basal area, respectively, or 57 and 31 % when the largest ramet within a genet was excluded. The large contribution of clonal reproduction to the density and basal area of W. floribunda was consistent with previous observational studies. The largest genet included a patch size of 0.47 ha and ranged over 180 m. Preferred landforms of clonal and non-clonal ramets were significantly different when evaluated by both abundance and basal area. Non-clonal ramets distributed more on lower part of the slope than other landforms in comparison with clonal ramets and trees, possibly reflecting the limitation of clonal growth by stolons. Using genetic analysis, the present study found evidence of a large contribution of clonal reproduction on the distribution of W. floribunda in its natural habitat. The results indicate that clonal reproduction plays an important role not only in the formation of populations but also in determining the distribution patterns of liana species.

  5. A critical view of the use of genetic tools to unveil neural circuits: the case of leptin action in reproduction

    Science.gov (United States)

    2013-01-01

    The remarkable development and refinement of the Cre-loxP system coupled with the nonstop production of new mouse models and virus vectors have impelled the growth of various fields of investigation. In this article, I will discuss the data collected using these genetic tools in our area of interest, giving specific emphasis to the identification of the neuronal populations that relay leptin action in reproductive physiology. A series of mouse models that allow manipulation of the leptin receptor gene have been generated. Of those, I will discuss the use of two models of leptin receptor gene reexpression (LepRneo/neo and LepRloxTB/loxTB) and one model of leptin signaling blockade (LepRflox/flox). I will also highlight the differences of using stereotaxic delivery of virus vectors expressing DNA-recombinases (Flp and Cre) and mouse models expressing Cre-recombinase. Our findings indicate that leptin action in the ventral premammillary nucleus is sufficient, but not required, for leptin action in reproduction and that leptin action in Kiss1 neurons arises after pubertal maturation; therefore, direct leptin signaling in Kiss1 neurons is neither required nor sufficient for the permissive action of leptin in pubertal development. It also became evident that the full action of leptin in the reproductive neuroendocrine axis requires the engagement of an integrated circuitry, yet to be fully unveiled. PMID:24196667

  6. 2017 in-training initiative of the Journal of Assisted Reproduction and Genetics: the JARG Young Investigator Forum.

    Science.gov (United States)

    Goldman, Kara N; Patrizio, Pasquale; Albertini, David

    2017-01-01

    The Journal of Assisted Reproduction and Genetics introduces the JARG Young Investigator Forum, an in-training initiative aimed to expand opportunities for young investigators. The JARG Young Investigator Forum has three primary goals: first, to increase opportunities for trainees and young investigators to contribute as researchers and writers. Trainees will be invited to publish mini-reviews based on their area of research interest/expertise and will have the opportunity to indicate "in-training" when submitting manuscripts as first author Educational research pertaining to reproductive medicine training will be added to the purview of the journal. Second, the Young Investigator Forum will increase opportunities for trainees to serve as journal reviewers and will provide mentorship throughout the peer review process. Third, trainees will have the unique opportunity to gain editorial experience by serving as a "guest editor" of the Young Investigator Forum, overseeing all editorial aspects of their assigned particular issue. Through authorship, peer review, and editorial experience, we seek to nurture the academic skills that are critical to a well-rounded career. The JARG Young Investigator Forum aims to foster career development for a generation of trainees who represent the future of reproductive medicine, and here, we outline the primary goals and objectives of the initiative.

  7. Demographic History and Reproductive Output Correlates with Intraspecific Genetic Variation in Seven Species of Indo-Pacific Mangrove Crabs.

    Directory of Open Access Journals (Sweden)

    Sara Fratini

    Full Text Available The spatial distribution and the amount of intraspecific genetic variation of marine organisms are strongly influenced by many biotic and abiotic factors. Comparing biological and genetic data characterizing species living in the same habitat can help to elucidate the processes driving these variation patterns. Here, we present a comparative multispecies population genetic study on seven mangrove crabs co-occurring in the West Indian Ocean characterized by planktotrophic larvae with similar pelagic larval duration. Our main aim was to investigate whether a suite of biological, behavioural and ecological traits could affect genetic diversities of the study species in combination with historical demographic parameters. As possible current explanatory factors, we used the intertidal micro-habitat colonised by adult populations, various parameters of individual and population fecundity, and the timing of larval release. As the genetic marker, we used partial sequences of cytochrome oxidase subunit I gene. Genetic and ecological data were collected by the authors and/or gathered from primary literature. Permutational multiple regression models and ANOVA tests showed that species density and their reproductive output in combination with historical demographic parameters could explain the intraspecific genetic variation indexes across the seven species. In particular, species producing consistently less eggs per spawning event showed higher values of haplotype diversity. Moreover, Tajima's D parameters well explained the recorded values for haplotype diversity and average γst. We concluded that current intraspecific gene diversities in crabs inhabiting mangrove forests were affected by population fecundity as well as past demographic history. The results were also discussed in terms of management and conservation of fauna in the Western Indian Ocean mangroves.

  8. Genetics of Sex Hormone-Binding Globulin and Testosterone Levels in Fertile and Infertile Men of Reproductive Age.

    Science.gov (United States)

    Grigorova, Marina; Punab, Margus; Poolamets, Olev; Adler, Mart; Vihljajev, Vladimir; Laan, Maris

    2017-06-01

    Testosterone (T) is a central androgenic hormone, and sex hormone-binding globulin (SHBG) is the major determinant of its bioactivity. There are no acknowledged genetic variants with clear-cut clinical implications, modulating T levels in men. To confirm genetic associations of top loci (SHBG, GCKR, SLCO1B1, and JMJD1C) from genome-wide association (GWA) studies for serum SHBG and T. Groups differing in general and reproductive parameters: young men (n = 540; 19.3 ± 1.8 years), severe idiopathic male infertility patients (n = 641; 31.6 ± 6.0 years), and male partners of pregnant women (n = 324; 31.9 ± 6.6 years). All patients were recruited at the Andrology Centre, Tartu University Hospital, Estonia. Genetic associations with reproductive hormones, testicular and sperm parameters (linear regression, additive model); intergroup allele/genotype distribution comparisons. Associations with serum SHBG levels were robust for SHBG -68 G>A [rs1799941; meta-analysis: P = 3.7 × 10-14; allelic effect (standard error) = 4.67 (0.62) nmol/L], SHBG +1091 C>T [rs727428; P = 7.3 × 10-11; -3.74 (0.57)], SHBG Pro185Leu [rs6258; P = 1.2 × 10-4, -12.2 (3.17)], and GCKR Pro446Leu [rs1260326; P = 1.5 × 10-4; -2.2 (0.59)]. Measured T concentrations correlated with genetically modulated levels of SHBG (r = 0.48 to 0.74, P rs4149056), and JMJD1C intronic variant rs7910927. Claims were replicated and additional associations were detected for four of seven tested GWAS top loci. Perspective clinical investigations of these variants are hypotestosteronemia among aging men and pharmacogenetics of hormone replacement therapy.

  9. Asexual reproduction in a close relative of Arabidopsis: a genetic investigation of apomixis in Boechera ( Brassicaceae).

    NARCIS (Netherlands)

    Schranz, M.E.; Kantama, L.; Jong, de J.H.S.G.M.; Mitchell-Olds, T.

    2006-01-01

    Understanding apomixis (asexual reproduction through seeds) is of great interest to both plant breeders and evolutionary biologists. The genus Boechera is an excellent system for studying apomixis because of its close relationship to Arabidopsis, the occurrence of apomixis at the diploid level, and

  10. Reproductive biology and genetic diversity of a cryptoviviparous mangrove aegiceras corniculatum (Myrsinaceae) using allozyme and intersimple sequence repeat (ISSR) analysis

    Science.gov (United States)

    Ge; Sun

    1999-12-01

    Mangroves consist of a group of taxonomically diverse species representing about 20 families of angiosperms. However, little is known about their reproductive biology, genetic structure, and the ecological and genetic factors affecting this structure. Comparative studies of various mangrove species are needed to fill such gaps in our knowledge. The pollination biology, outcrossing rate, and genetic diversity of Aegiceras corniculatum were investigated in this study. Pollination experiments suggested that the species is predominantly pollinator-dependent in fruit setting. A quantitative analysis of the mating system was performed using progeny arrays assayed for intersimple sequence repeat (ISSR) markers. The multilocus outcrossing rate (tm) was estimated to be 0.653 in a wild population. Both allozyme and ISSR were used to investigate genetic variation within and among populations. The combined effects of founder events and enhanced local gene flow through seedling dispersal by ocean currents apparently played an important role in shaping the population genetic structure in this mangrove species. Both allozyme variation (P = 4.76%, A = 1.05, HE = 0.024) and ISSR diversity (P = 16.18%, A = 1.061, HE = 0.039) were very low at the species level, in comparison with other woody plants with mixed-mating or outcrossing systems. Gene differentiation among populations was also low: allozyme GST = 0.106 and ISSR GST = 0.178. The unusually high genetic identities (0.997 for allozyme and 0.992 for ISSR loci), however, suggest that these populations are probably all descended from a common ancestral population with low polymorphism.

  11. Mito-nuclear genetic comparison in a Wolbachia infected weevil: insights on reproductive mode, infection age and evolutionary forces shaping genetic variation

    Science.gov (United States)

    2010-01-01

    Background Maternally inherited endosymbionts like Wolbachia pipientis are in linkage disequilibrium with the mtDNA of their hosts. Therefore, they can induce selective sweeps, decreasing genetic diversity over many generations. This sex ratio distorter, that is involved in the origin of parthenogenesis and other reproductive alterations, infects the parthenogenetic weevil Naupactus cervinus, a serious pest of ornamental and fruit plants. Results Molecular evolution analyses of mitochondrial (COI) and nuclear (ITS1) sequences from 309 individuals of Naupactus cervinus sampled over a broad range of its geographical distribution were carried out. Our results demonstrate lack of recombination in the nuclear fragment, non-random association between nuclear and mitochondrial genomes and the consequent coevolution of both genomes, being an indirect evidence of apomixis. This weevil is infected by a single Wolbachia strain, which could have caused a moderate bottleneck in the invaded population which survived the initial infection. Conclusions Clonal reproduction and Wolbachia infection induce the coevolution of bacterial, mitochondrial and nuclear genomes. The time elapsed since the Wolbachia invasion would have erased the traces of the demographic crash in the mtDNA, being the nuclear genome the only one that retained the signal of the bottleneck. The amount of genetic change accumulated in the mtDNA and the high prevalence of Wolbachia in all populations of N. cervinus agree with the hypothesis of an ancient infection. Wolbachia probably had great influence in shaping the genetic diversity of N. cervinus. However, it would have not caused the extinction of males, since sexual and asexual infected lineages coexisted until recent times. PMID:21050430

  12. DNA Markers and FCSS Analyses Shed Light on the Genetic Diversity and Reproductive Strategy of Jatropha curcas L.

    Directory of Open Access Journals (Sweden)

    Daria Gigliola Ambrosi

    2010-05-01

    Full Text Available Jatropha curcas L. (2n = 2x = 22 is becoming a popular non-food oleaginous crop in several developed countries due to its proposed value in the biopharmaceutical industry. Despite the potentials of its oil-rich seeds as a renewable source of biodiesel and an interest in large-scale cultivation, relatively little is known with respect to plant reproduction strategies and population dynamics. Here, genomic DNA markers and FCSS analyses were performed to gain insights into ploidy variation and heterozygosity levels of multiple accessions, and genomic relationships among commercial varieties of Jatropha grown in different geographical areas. The determination of ploidy and the differentiation of either pseudogamous or autonomous apomixis from sexuality were based on the seed DNA contents of embryo and endosperm. The presence of only a high 2C embryo peak and a smaller 3C endosperm peak (ratio 2:3 is consistent with an obligate sexual reproductive system. Because of the lack of either 4C or 5C endosperm DNA estimates, the occurrence of gametophytic apomixis seems unlikely in this species but adventitious embryony cannot be ruled out. The investigation of genetic variation within and between cultivated populations was carried out using dominant RAPD and Inter-SSR markers, and codominant SSR markers. Nei’s genetic diversity, corresponding to the expected heterozygosity, was equal to He = 0.3491 and the fixation index as low as Fst = 0.2042. The main finding is that seeds commercialized worldwide include a few closely related genotypes, which are not representative of the original Mexican gene pool, revealing high degrees of homozygosity for single varieties and very low genetic diversity between varieties.

  13. The genetic architecture of local adaptation and reproductive isolation in sympatry within the Mimulus guttatus species complex.

    Science.gov (United States)

    Ferris, Kathleen G; Barnett, Laryssa L; Blackman, Benjamin K; Willis, John H

    2017-01-01

    The genetic architecture of local adaptation has been of central interest to evolutionary biologists since the modern synthesis. In addition to classic theory on the effect size of adaptive mutations by Fisher, Kimura and Orr, recent theory addresses the genetic architecture of local adaptation in the face of ongoing gene flow. This theory predicts that with substantial gene flow between populations local adaptation should proceed primarily through mutations of large effect or tightly linked clusters of smaller effect loci. In this study, we investigate the genetic architecture of divergence in flowering time, mating system-related traits, and leaf shape between Mimulus laciniatus and a sympatric population of its close relative M. guttatus. These three traits are probably involved in M. laciniatus' adaptation to a dry, exposed granite outcrop environment. Flowering time and mating system differences are also reproductive isolating barriers making them 'magic traits'. Phenotypic hybrids in this population provide evidence of recent gene flow. Using next-generation sequencing, we generate dense SNP markers across the genome and map quantitative trait loci (QTLs) involved in flowering time, flower size and leaf shape. We find that interspecific divergence in all three traits is due to few QTL of large effect including a highly pleiotropic QTL on chromosome 8. This QTL region contains the pleiotropic candidate gene TCP4 and is involved in ecologically important phenotypes in other Mimulus species. Our results are consistent with theory, indicating that local adaptation and reproductive isolation with gene flow should be due to few loci with large and pleiotropic effects. © 2016 John Wiley & Sons Ltd.

  14. Conservation priorities for Prunus africana defined with the aid of spatial analysis of genetic data and climatic variables.

    Directory of Open Access Journals (Sweden)

    Barbara Vinceti

    Full Text Available Conservation priorities for Prunus africana, a tree species found across Afromontane regions, which is of great commercial interest internationally and of local value for rural communities, were defined with the aid of spatial analyses applied to a set of georeferenced molecular marker data (chloroplast and nuclear microsatellites from 32 populations in 9 African countries. Two approaches for the selection of priority populations for conservation were used, differing in the way they optimize representation of intra-specific diversity of P. africana across a minimum number of populations. The first method (S1 was aimed at maximizing genetic diversity of the conservation units and their distinctiveness with regard to climatic conditions, the second method (S2 at optimizing representativeness of the genetic diversity found throughout the species' range. Populations in East African countries (especially Kenya and Tanzania were found to be of great conservation value, as suggested by previous findings. These populations are complemented by those in Madagascar and Cameroon. The combination of the two methods for prioritization led to the identification of a set of 6 priority populations. The potential distribution of P. africana was then modeled based on a dataset of 1,500 georeferenced observations. This enabled an assessment of whether the priority populations identified are exposed to threats from agricultural expansion and climate change, and whether they are located within the boundaries of protected areas. The range of the species has been affected by past climate change and the modeled distribution of P. africana indicates that the species is likely to be negatively affected in future, with an expected decrease in distribution by 2050. Based on these insights, further research at the regional and national scale is recommended, in order to strengthen P. africana conservation efforts.

  15. Conservation priorities for Prunus africana defined with the aid of spatial analysis of genetic data and climatic variables.

    Science.gov (United States)

    Vinceti, Barbara; Loo, Judy; Gaisberger, Hannes; van Zonneveld, Maarten J; Schueler, Silvio; Konrad, Heino; Kadu, Caroline A C; Geburek, Thomas

    2013-01-01

    Conservation priorities for Prunus africana, a tree species found across Afromontane regions, which is of great commercial interest internationally and of local value for rural communities, were defined with the aid of spatial analyses applied to a set of georeferenced molecular marker data (chloroplast and nuclear microsatellites) from 32 populations in 9 African countries. Two approaches for the selection of priority populations for conservation were used, differing in the way they optimize representation of intra-specific diversity of P. africana across a minimum number of populations. The first method (S1) was aimed at maximizing genetic diversity of the conservation units and their distinctiveness with regard to climatic conditions, the second method (S2) at optimizing representativeness of the genetic diversity found throughout the species' range. Populations in East African countries (especially Kenya and Tanzania) were found to be of great conservation value, as suggested by previous findings. These populations are complemented by those in Madagascar and Cameroon. The combination of the two methods for prioritization led to the identification of a set of 6 priority populations. The potential distribution of P. africana was then modeled based on a dataset of 1,500 georeferenced observations. This enabled an assessment of whether the priority populations identified are exposed to threats from agricultural expansion and climate change, and whether they are located within the boundaries of protected areas. The range of the species has been affected by past climate change and the modeled distribution of P. africana indicates that the species is likely to be negatively affected in future, with an expected decrease in distribution by 2050. Based on these insights, further research at the regional and national scale is recommended, in order to strengthen P. africana conservation efforts.

  16. Direct and indirect genetic effects of sex-specific mitonuclear epistasis on reproductive ageing

    DEFF Research Database (Denmark)

    Immonen, Elina; Collet, Marie; Goenaga, Julieta

    2016-01-01

    Mitochondria are involved in ageing and their function requires coordinated action of both mitochondrial and nuclear genes. Epistasis between the two genomes can influence lifespan but whether this also holds for reproductive senescence is unclear. Maternal inheritance of mitochondria predicts sex...... to slower senescence relative to novel mitonuclear combinations. We found no evidence for mitonuclear coadaptation in males. Mitonuclear epistasis not only affected age-specific ejaculate weight, but also influenced male age-dependent indirect effects on traits expressed by their female partners (fecundity...... beetle Callosobruchus maculatus, using introgression lines harbouring distinct mitonuclear genotypes. Our results reveal both direct and indirect sex-specific effects of mitonuclear epistasis on reproductive ageing. Females harbouring coadapted mitonuclear genotypes showed higher lifetime fecundity due...

  17. Association between genetic subgroups of pancreatic ductal adenocarcinoma defined by high density 500 K SNP-arrays and tumor histopathology.

    Directory of Open Access Journals (Sweden)

    María Laura Gutiérrez

    Full Text Available The specific genes and genetic pathways associated with pancreatic ductal adenocarcinoma are still largely unknown partially due to the low resolution of the techniques applied so far to their study. Here we used high-density 500 K single nucleotide polymorphism (SNP-arrays to define those chromosomal regions which most commonly harbour copy number (CN alterations and loss of heterozygozity (LOH in a series of 20 PDAC tumors and we correlated the corresponding genetic profiles with the most relevant clinical and histopathological features of the disease. Overall our results showed that primary PDAC frequently display (>70% extensive gains of chromosomes 1q, 7q, 8q and 20q, together with losses of chromosomes 1p, 9p, 12q, 17p and 18q, such chromosomal regions harboring multiple cancer- and PDAC-associated genes. Interestingly, these alterations clustered into two distinct genetic profiles characterized by gains of the 2q14.2, 3q22.1, 5q32, 10q26.13, 10q26.3, 11q13.1, 11q13.3, 11q13.4, 16q24.1, 16q24.3, 22q13.1, 22q13.31 and 22q13.32 chromosomal regions (group 1; n = 9 versus gains at 1q21.1 and losses of the 1p36.11, 6q25.2, 9p22.1, 9p24.3, 17p13.3 and Xp22.33 chromosomal regions (group 2; n = 11. From the clinical and histopathological point of view, group 1 cases were associated with smaller and well/moderately-differentiated grade I/II PDAC tumors, whereas and group 2 PDAC displayed a larger size and they mainly consisted of poorly-differentiated grade III carcinomas. These findings confirm the cytogenetic complexity and heterozygozity of PDAC and provide evidence for the association between tumor cytogenetics and its histopathological features. In addition, we also show that the altered regions identified harbor multiple cancer associate genes that deserve further investigation to determine their relevance in the pathogenesis of PDAC.

  18. Genetic and Trend Evaluation of Productive and Reproductive Traits of Dairy Cattle in Razavi Khorasan Province by Using Multivariate Analysis

    Directory of Open Access Journals (Sweden)

    M Nosrati

    2012-02-01

    Full Text Available In this study, Data comprising 10479 production and reproduction records of Razavi Khorasan province's dairy cattle, were collected by Animal Breeding Center of Iran during 1986 to 2006, were used. Genetic parameters were estimated by Restricted Maximum Likelihood procedure using WOMBAT software. Genetic and phonotype trends were estimated via linear regression as means genetic and phonotype value on year of calving. Estimates of Heritability for age at first calving (AFC, calving interval1 (CI1, calving interval2 (CI2, dry period (DP, milk yield (MILK305 and fat yield(FAT305 were 0.07±0.02, 0.03±0.01, 0.06±0.02, 0.04± 0.02, 0.31 ± 0.01 and 0.18 ± 0.02 respectively. Genetic correlations of MILK305 and FAT305 with AFC, CI1, CI2 and DP were -0.38, 0.89, 0.55, 0.02, -0.39, 0.82, 0.52 and 0.04 respectively. Regression coefficient for Genetic trend of MILK305, FAT305, DP, AFC, CI1 and CI2 were 8.68±2.5, 0.11±0.07 (Kg/year, 0.01±0.001, -0.23±0.15, 0.13±0.04 and 0.1±0.06 (days/year respectively and Phonotypic regression coefficients for these traits were 147.51±12.14, 6.71±0.36 (Kg/year, -0.1± 0.001, -5.85±3.2, 0.7± 0.06 and 1.29± 0.9 (days/year, respectively.

  19. Plants and Photosynthesis: Level III, Unit 3, Lesson 1; The Human Digestive System: Lesson 2; Functions of the Blood: Lesson 3; Human Circulation and Respiration: Lesson 4; Reproduction of a Single Cell: Lesson 5; Reproduction by Male and Female Cells: Lesson 6; The Human Reproductive System: Lesson 7; Genetics and Heredity: Lesson 8; The Nervous System: Lesson 9; The Glandular System: Lesson 10. Advanced General Education Program. A High School Self-Study Program.

    Science.gov (United States)

    Manpower Administration (DOL), Washington, DC. Job Corps.

    This self-study program for the high-school level contains lessons in the following subjects: Plants and Photosynthesis; The Human Digestive System; Functions of the Blood; Human Circulation and Respiration; Reproduction of a Single Cell; Reproduction by Male and Female Cells; The Human Reproductive System; Genetics and Heredity; The Nervous…

  20. Genetic architecture of threshold reaction norms for male alternative reproductive tactics in Atlantic salmon (Salmo salar L.).

    Science.gov (United States)

    Lepais, Olivier; Manicki, Aurélie; Glise, Stéphane; Buoro, Mathieu; Bardonnet, Agnès

    2017-03-10

    Alternative mating tactics have important ecological and evolutionary implications and are determined by complex interactions between environmental and genetic factors. Here, we study the genetic effect and architecture of the variability in reproductive tactics among Atlantic salmon males which can either mature sexually early in life in freshwater or more commonly only after completing a migration at sea. We applied the latent environmental threshold model (LETM), which provides a conceptual framework linking individual status to a threshold controlling the decision to develop alternative traits, in an innovative experimental design using a semi-natural river which allowed for ecologically relevant phenotypic expression. Early male parr maturation rates varied greatly across families (10 to 93%) which translated into 90% [64-100%] of the phenotypic variation explained by genetic variation. Three significant QTLs were found for the maturation status, however only one collocated with a highly significant QTL explaining 20.6% of the variability of the maturation threshold located on chromosome 25 and encompassing a locus previously shown to be linked to sea age at maturity in anadromous Atlantic salmon. These results provide new empirical illustration of the relevance of the LETM for a better understanding of alternative mating tactics evolution in natural populations.

  1. Genetic evidence for a Janzen-Connell recruitment pattern in reproductive offspring of Pinus halepensis trees.

    Science.gov (United States)

    Steinitz, O; Troupin, D; Vendramin, G G; Nathan, R

    2011-10-01

    Effective seed dispersal, combining both dispersal and postdispersal (establishment) processes, determines population dynamics and colonization ability in plants. According to the Janzen-Connell (JC) model, high mortality near the mother plant shifts the offspring establishment distribution farther away from the mother plant relative to the seed dispersal distribution. Yet, extending this prediction to the distribution of mature (reproductive) offspring remains a challenge for long-living plants. To address this challenge, we selected an isolated natural Aleppo pine (Pinus halepensis) population in Mt. Pithulim (Israel), which expanded from five ancestor trees in the beginning of the 20th century into ∼2000 trees today. Using nine microsatellite markers, we assigned parents to trees established during the early stages of population expansion. To elucidate the effect of the distance from the mother plant on postdispersal survival, we compared the effective seed dispersal kernel, based on the distribution of mother-offspring distances, with the seed dispersal kernel, based on simulations of a mechanistic wind dispersal model. We found that the mode of the effective dispersal kernel is shifted farther away than the mode of the seed dispersal kernel, reflecting increased survival with increasing distance from the mother plant. The parentage analysis demonstrated a highly skewed reproductive success and a strong directionality in effective dispersal corresponding to the wind regime. We thus provide compelling evidence that JC effects act also on offspring that become reproductive and persist as adults for many decades, a key requirement in assessing the role of postdispersal processes in shaping population and community dynamics. © 2011 Blackwell Publishing Ltd.

  2. Reproductive and genetic effects of continuous prenatal irradiation in the pig

    Energy Technology Data Exchange (ETDEWEB)

    Erickson, B.H.; Martin, P.G.

    1984-08-01

    The stem germ cells of the prenatal pig are highly vulnerable to the cytotoxic effects of ionizing irradiation. This study was conducted to determine whether sensitivity to killing was also marked by a sensitivity to mutation and how prenatal depletion of the germ-cell population affects reproductive performance. Germ-cell populations were reduced by continuously irradiating sows at dose rates of either 0.25 or 1.0 rad/day for the first 108 days of gestation. The prenatally irradiated boars were tested for sperm-producing ability, sperm abnormalities, dominant lethality, reciprocal translocations, and fertility. Prenatally irradiated females were allowed to bear and nurture one litter, then tested for dominant lethality in a second litter; germ cell survival and follicular development were assessed in their serially sectioned ovaries. Sperm production was not significantly affected in the 0.25-rad boars, but boars irradiated with 1.0 rad per day produced sperm at only 17% of the control level. Incidence of defective sperm was 4.9% and 11.1% in the 0.25 and 1.0 groups, respectively. Four of the 1.0-rad boars were infertile, but prenatal irradiation apparently caused neither dominant lethality nor reciprocal translocations in fertile males. Number of oocytes was reduced to 66 +/- 7% of control in the 0.25-rad gilts, but reproductive performance was unaffected and no dominant lethality was observed. Only 7 +/- 1% of the oocytes survived in the 1.0-rad group. Reproductive performance was normal for the first litter, but four of the 23 sows tested were infertile at the second litter and a significant incidence of dominant lethality was observed.

  3. Genetics of growth and reproduction in the Turkey. 17. Changes in genetic parameters over forty generations of selection for increased sixteen-week body weight.

    Science.gov (United States)

    Nestor, K E; Anderson, J W; Patterson, R A; Velleman, S G

    2008-10-01

    A line (F) of turkeys was selected over 40 generations for increased 16-wk BW. The base population for the F line was a randombred control population that was maintained without conscious selection and used to remove yearly environmental variation in the F line. Selection was effective in increasing 16-wk BW in the F line. Selection differentials based on the mean of the selected parents minus the mean of the entire population (intended) and intended selection differentials weighted for number of offspring produced (actual) did not differ consistently, indicating that natural selection was not opposing artificial selection during the reproduction of the F line. The realized heritability of 16-wk BW in the F line, based on the linear regression of the selection response on accumulated actual selection differential, declined with selection. For both sexes combined, the realized heritability was 0.309 +/- 0.022 (SE), 0.268 +/- 0.033, 0.268 +/- 0.026, 0.166 +/- 0.016, and 0.242 +/- 0.004, respectively, for generations 1 to 10, 11 to 20, 21 to 30, 31 to 40, and 1 to 40. Genetic increases in 16-wk BW in the F line over 40 generations of selection were positively associated with BW at other ages (8 and 20 wk of age and at 50% production), shank length and width at 16 wk of age, days from stimulatory lighting to production of the first egg, and egg weight but were negatively associated with egg production, intensity of lay (maximum and average clutch length and rate of lay), and walking ability. Over the 40 generations of selection, genetic increases in BW in the F line were not associated with changes in broodiness or mortality to 8 wk of age. During generations 31 to 40, BW at 8 and 20 wk of age continued to increase in the F line, but there was no significant change in adult BW, and the only significant change in reproduction traits was for average clutch length (-0.030). Because the genetic changes in some correlated traits were not consistent in all generation

  4. Ecological adaptation and reproductive isolation in sympatry: genetic and phenotypic evidence for native host races of Rhagoletis pomonella.

    Science.gov (United States)

    Powell, Thomas H Q; Forbes, Andrew A; Hood, Glen R; Feder, Jeffrey L

    2014-02-01

    Ecological speciation with gene flow may be an important mode of diversification for phytophagous insects. The recent shift of Rhagoletis pomonella from its native host downy hawthorn (Crataegus mollis) to introduced apple (Malus domestica) in the northeastern United States is a classic example of sympatric host race formation. Here, we test whether R. pomonella has similarly formed host races on four native Crataegus species in the southern United States: western mayhaw (C. opaca), blueberry hawthorn (C. brachyacantha), southern red hawthorn (C. mollis var. texana) and green hawthorn (C. viridis). These four southern hosts differ from each other in their fruiting phenology and in the volatile compounds emitted from the surface of their fruits. These two traits form the basis of ecological reproductive isolation between downy hawthorn and apple flies in the north. We report evidence from microsatellite population surveys and eclosion studies supporting the existence of genetically differentiated and partially reproductively isolated host races of southern hawthorn flies. The results provide an example of host shifting and ecological divergence involving native plants and imply that speciation with gene flow may be commonly initiated in Rhagoletis when ecological opportunity presents itself. © 2013 John Wiley & Sons Ltd.

  5. On new reproductive technologies and family ethics: pre-implantation genetic diagnosis for sibling donor in Israel and Germany.

    Science.gov (United States)

    Hashiloni-Dolev, Yael; Shkedi, Shiri

    2007-11-01

    This paper discusses the policy debate and ethical discussion surrounding pre-implantation genetic diagnosis (PGD) for sibling donor (SD) in Germany and Israel. Based on an analysis of the regulations and ethical discourse concerning a unique form of new reproductive technology (NRT)--PGD for SD--we complement the scholarly discussion of NRTs in these countries, by pointing to an explanatory factor that has been so far neglected, namely the hegemonic notions regarding the ideal relationship between the generations, and the mutual obligations between different family members in Germany and Israel. We argue the fact that PGD (in general) and PGD for SD (in particular) have been banned in Germany, but were endorsed without hesitation in Israel, has to do with different perceptions of family ethics within the two societies. Furthermore, we argue that this factor contributes significantly to the more general understanding of German and Israeli policies regarding NRTs.

  6. Genetic structure and reproductive strategy of the ant Cardiocondyla elegans: strictly monogynous nests invaded by unrelated sexuals.

    Science.gov (United States)

    Lenoir, J-C; Schrempf, A; Lenoir, A; Heinze, J; Mercier, J-L

    2007-01-01

    Cardiocondyla elegans is a Mediterranean ant that nests on river banks. It rears only wingless (ergatoid) males that live peacefully in the same nest as opposed to other species of the same genus, which have both peaceful, winged and mutually aggressive 'ergatoid' males. Using microsatellite analysis, we investigated the genetic structure of 21 colonies from three different locations as well as the parentage of sexuals of two colonies of C. elegans. We show that C. elegans is strictly monogynous, and that its nests can contain foreign sexuals. The presence of alien sexuals inside ant nests is described for the first time and probably counteracts inbreeding resulting from matings between siblings. In the laboratory, aggression tests showed that workers only allow alien males to enter their nests, while all winged female sexuals attempting to enter were attacked. Nevertheless, the presence of alien female sexuals in nests in the field seems to result from active carrying behaviour by workers during the reproductive period.

  7. Reproduction in farm animals in an era of rapid genetic change: will genetic change outpace our knowledge of physiology?

    Science.gov (United States)

    Foxcroft, G R

    2012-08-01

    Compared with other domestic species, genetic nucleus selection has gradually increased both prolificacy and productivity of the breeding sow and the post-natal growth performance of commercial progeny. However, increasing variation in litter birth weight and foetal development may be indirect consequences of interactions among multiple genes controlling prolificacy and prenatal development. Phenotypic plasticity in the litter phenotype also results from effects of sow metabolic state on the developing embryo. New genomic tools may provide the opportunity to better balance the selection of genes controlling the component traits affecting the size and quality of litters born, particularly in multiparous sows. © 2012 Blackwell Verlag GmbH.

  8. Management of goat reproduction and insemination for genetic improvement in France.

    Science.gov (United States)

    Leboeuf, B; Delgadillo, J A; Manfredi, E; Piacère, A; Clément, V; Martin, P; Pellicer, M; Boué, P; de Cremoux, R

    2008-07-01

    Reproductive seasonality observed in all breeds of goats originating from temperate latitudes and in some breeds from subtropical latitudes can now be controlled by artificial changes in photoperiod. Short days stimulate sexual activity, while long days inhibit it. This knowledge has allowed the development of photoperiodic treatments to control sexual activity in goats, for both the buck and doe. In the French intensive milk production system, goat AI plays an important role to control reproduction and, in conjunction with progeny testing, to improve milk production. Most dairy goats are inseminated out of the breeding season with deep frozen semen, after induction of oestrus and ovulation by hormonal treatments. This protocol provides a kidding rate of approximately 65%. New breeding strategies have been developed, based on the buck effect associated with AI, to reduce the use of hormones. With the development of insemination with frozen semen, a classical selection programme was set up, including planned mating, progeny testing and the diffusion of proved sires by inseminations in herds. Functional traits have become important for efficient breeding schemes in the dairy goat industries. Based on knowledge gained over the past decade, the emphasis in selective breeding has been placed on functional traits related to udder morphology and health. New windows have been opened based on new molecular tools, allowing the detection and mapping of genes of economic importance.

  9. Genetic dissection of the planarian reproductive system through characterization of Schmidtea mediterranea CPEB homologs.

    Science.gov (United States)

    Rouhana, Labib; Tasaki, Junichi; Saberi, Amir; Newmark, Phillip A

    2017-06-01

    Cytoplasmic polyadenylation is a mechanism of mRNA regulation prevalent in metazoan germ cells; it is largely dependent on Cytoplasmic Polyadenylation Element Binding proteins (CPEBs). Two CPEB homologs were identified in the planarian Schmidtea mediterranea. Smed-CPEB1 is expressed in ovaries and yolk glands of sexually mature planarians, and required for oocyte and yolk gland development. In contrast, Smed-CPEB2 is expressed in the testes and the central nervous system; its function is required for spermatogenesis as well as non-autonomously for development of ovaries and accessory reproductive organs. Transcriptome analysis of CPEB knockdown animals uncovered a comprehensive collection of molecular markers for reproductive structures in S. mediterranea, including ovaries, testes, yolk glands, and the copulatory apparatus. Analysis by RNA interference revealed contributions for a dozen of these genes during oogenesis, spermatogenesis, or capsule formation. We also present evidence suggesting that Smed-CPEB2 promotes translation of Neuropeptide Y-8, a prohormone required for planarian sexual maturation. These findings provide mechanistic insight into potentially conserved processes of germ cell development, as well as events involved in capsule deposition by flatworms. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

  10. Genetic diversity of porcine reproductive and respiratory syndrome virus in Thailand and Southeast Asia from 2008 to 2013.

    Science.gov (United States)

    Jantafong, Tippawan; Sangtong, Pradit; Saenglub, Wimontiane; Mungkundar, Chatthapon; Romlamduan, Narin; Lekchareonsuk, Chalermpol; Lekcharoensuk, Porntippa

    2015-04-17

    Porcine reproductive and respiratory syndrome virus (PRRSV) affects the swine industry worldwide. Annual surveillances taken from 2008 to 2013 revealed a 13.86% prevalence of PRRSVs in swine populations in Thailand. The selected positive samples were genetically characterized based on global systems and phylogenetic trees that were constructed using 967 ORF5 samples from this study, the collective sequences from Thailand and Southeast Asia and reference sequences. The results showed that both types I and II have been circulating in Thai swine and that genotype II was more prevalent than genotype I. Only type II was found in other countries in Southeast Asia. Type I PRRSVs from Thailand are clustered in subtype 1, clades A, D and H. Type II PRRSVs are topologically classified in lineage 1 and sublineages 5.1, 5.2 and 8.7, of which sublineage 8.7 was predominant, especially after 2010. PRRSVs in sublineage 8.7 are divided into two groups: classical NA and HP-PRRSV. An analysis of all HP-PRRSVs in Southeast Asia revealed four separate clades--A (SX2009-like), B (09HEN1-like), JXA1-like and GXFCH08-like--reflecting four different introductions of these viruses into Thailand, Lao PDR, Cambodia and Vietnam. HP-PRRSV first appeared in Thailand and Cambodia in 2008, 2 years before the first epidemic outbreaks. Recently, the genetics of PRRSVs in Southeast Asia have become more diverse. Thus, PRRSV genetics must be continually characterized and phylogenetically analyzed using global systematic classifications to provide annual genetic information for PRRS control and vaccine selection. Copyright © 2015 Elsevier B.V. All rights reserved.

  11. Association of single nucleotide polymorphisms in candidate genes previously related to genetic variation in fertility with phenotypic measurements of reproductive function in Holstein cows

    Science.gov (United States)

    The objectives of this study were to evaluate the effect of 68 SNP previously associated with genetic merit for fertility and production on phenotype for reproductive and productive traits in a population of Holstein cows. In addition, we determined which SNP had repeated effects across three studie...

  12. Phenotype and genetic parameters for body measurements, reproductive traits and gut lenght of Nile tilapia (Oreochromis niloticus) selected for growth in low-input earthen ponds

    NARCIS (Netherlands)

    Charo-Karisa, H.; Bovenhuis, H.; Rezk, M.A.; Ponzoni, R.W.; Arendonk, van J.A.M.; Komen, J.

    2007-01-01

    In this study we present estimates of phenotypic and genetic parameters for body size measurements, reproductive traits, and gut length for Nile tilapia (Oreochromis niloticus) selected for growth in fertilized earthen ponds for two generations. Throughout the experiment, ponds were fertilized daily

  13. Reproductive aging-associated common genetic variants and the risk of breast cancer

    NARCIS (Netherlands)

    C. He (Chunyan); D.I. Chasman (Daniel); H. Dreyfus (Hélène); S.J. Hwang; R. Ruiter (Rikje); S. Sanna (Serena); J.E. Buring (Julie); L. Fernández-Rhodes (Lindsay); N. Franceschini (Nora); S.E. Hankinson (Susan); A. Hofman (Albert); K.L. Lunetta (Kathryn); D. Palmieri (Dario); E. Porcu (Eleonora); F. Rivadeneira Ramirez (Fernando); L.M. Rose (Lynda); G.L. Splansky (Greta); L. Stolk (Lisette); A.G. Uitterlinden (André); S.J. Chanock (Stephen); L. Crisponi (Laura); E.W. Demerath (Ellen); J. Murabito (Joanne); P.M. Ridker (Paul); B.H.Ch. Stricker (Bruno); D. Hunter (David)

    2012-01-01

    textabstractIntroduction: A younger age at menarche and an older age at menopause are well established risk factors for breast cancer. Recent genome-wide association studies have identified several novel genetic loci associated with these two traits. However, the association between these loci and

  14. Surviving in isolation: genetic variation, bottlenecks and reproductive strategies in the Canarian endemic Limonium macrophyllum (Plumbaginaceae).

    Science.gov (United States)

    Jiménez, Ares; Weigelt, Barbara; Santos-Guerra, Arnoldo; Caujapé-Castells, Juli; Fernández-Palacios, José María; Conti, Elena

    2017-02-01

    Oceanic archipelagos are typically rich in endemic taxa, because they offer ideal conditions for diversification and speciation in isolation. One of the most remarkable evolutionary radiations on the Canary Islands comprises the 16 species included in Limonium subsection Nobiles, all of which are subject to diverse threats, and legally protected. Since many of them are single-island endemics limited to one or a few populations, there exists a risk that a loss of genetic variation might limit their long-term survival. In this study, we used eight newly developed microsatellite markers to characterize the levels of genetic variation and inbreeding in L. macrophyllum, a species endemic to the North-east of Tenerife that belongs to Limonium subsection Nobiles. We detected generally low levels of genetic variation over all populations (H T = 0.363), and substantial differentiation among populations (F ST = 0.188; R ST = 0.186) coupled with a negligible degree of inbreeding (F = 0.042). Obligate outcrossing may have maintained L. macrophyllum relatively unaffected by inbreeding despite the species' limited dispersal ability and the genetic bottlenecks likely caused by a prolonged history of grazing. Although several factors still constitute a risk for the conservation of L. macrophyllum, the lack of inbreeding and the recent positive demographic trends observed in the populations of this species are factors that favour its future persistence.

  15. Dietary and genetic determinants of homocysteine levels among Mexican women of reproductive age.

    Science.gov (United States)

    Torres-Sánchez, L; Chen, J; Díaz-Sánchez, Y; Palomeque, C; Bottiglieri, T; López-Cervantes, M; López-Carrillo, L

    2006-06-01

    To evaluate the independent and joint effects of dietary folate, vitamin B(12) consumption and methylenetetrahydrofolate reductase (MTHFR) polymorphisms (677C>T and 1298A>C) on the circulating folate and homocysteine (Hcy) levels among Mexican women of reproductive age. A cross-sectional, population-based study. The first 130 healthy non-pregnant women (aged 16-34 years) who agreed to participate in a reproductive cohort in Morelos, Mexico. Dietary intakes of vitamin B(12) and folate were estimated using a semiquantitative food frequency questionnaire. MTHFR 677C>T and 1298A>C polymorphisms were ascertained using the PCR-based method. Serum levels of Hcy and folate were determined using high-performance liquid chromatography and radioimmunoassay, respectively. Genotype frequencies for the MTHFR 677C>T polymorphism were 21.5% (CC), 52.3% (CT) and 26.2% (TT) among Mexican women. Of the population, 22% had the MTHFR 1298AC genotype, while no individual carried the 1298CC genotype. We observed an increased level of Hcy among carriers of the 677TT genotype, compared to carriers of the 677CC genotype. The highest level of Hcy was observed among MTHFR 677TT carriers with low B(12) intake (<2.0 microg/day), which resulted with a significant interaction (P=0.01). Vitamin B(12) is an important determinant of Hcy levels in Mexico. Supplementation of folic acid with vitamin B(12) may be preferable when the MTHFR 677T variant allele is prevalent.

  16. The European Court legitimates access of Italian couples to assisted reproductive techniques and to pre-implantation genetic diagnosis.

    Science.gov (United States)

    Turillazzi, Emanuela; Frati, Paola; Busardò, Francesco Paolo; Gulino, Matteo; Fineschi, Vittorio

    2015-07-01

    On 28 August 2012, the European Court of Human Rights (ECHR) issued a judgment regarding the requirements for the legitimate access of couples to assisted reproductive techniques (ART) and to pre-implantation genetic diagnosis (PGD). This judgment concerns the case of an Italian couple who found out after their first child was born with cystic fibrosis that they were healthy carriers of the disease. When the woman became pregnant again in 2010 and underwent fetal screening, it was found that the unborn child also had cystic fibrosis, whereupon she had the pregnancy terminated on medical grounds. In order to have the embryo genetically screened prior to implantation under the procedure of PGD, the couple sought to use in vitro fertilisation to have another child. Since article 1 of the Italian law strictly limits access to ART to sterile/infertile couples or those in which the man has a sexually transmissible disease, the couple appealed to the European court, raising the question of the violation of articles 8 and 14 of the European Convention on Human Rights. The applicants lodged a complaint that they were not allowed legitimate access to ART and to PGD to select an embryo not affected by the disease. The European Court affirmed that the prohibition imposed by Italian law violated article 8 of the European Convention on Human Rights. Focusing on important regulatory and legal differences among EU Nations in providing ART treatments and PGD, we derived some important similarities and differences. © The Author(s) 2014.

  17. A genetically female brain is required for a regular reproductive cycle in chicken brain chimeras.

    Science.gov (United States)

    Maekawa, Fumihiko; Sakurai, Miyano; Yamashita, Yuki; Tanaka, Kohichi; Haraguchi, Shogo; Yamamoto, Kazutoshi; Tsutsui, Kazuyoshi; Yoshioka, Hidefumi; Murakami, Shizuko; Tadano, Ryo; Goto, Tatsuhiko; Shiraishi, Jun-ichi; Tomonari, Kohei; Oka, Takao; Ohara, Ken; Maeda, Teruo; Bungo, Takashi; Tsudzuki, Masaoki; Ohki-Hamazaki, Hiroko

    2013-01-01

    Sexual differentiation leads to structural and behavioural differences between males and females. Here we investigate the intrinsic sex identity of the brain by constructing chicken chimeras in which the brain primordium is switched between male and female identities before gonadal development. We find that the female chimeras with male brains display delayed sexual maturation and irregular oviposition cycles, although their behaviour, plasma concentrations of sex steroids and luteinizing hormone levels are normal. The male chimeras with female brains show phenotypes similar to typical cocks. In the perinatal period, oestrogen concentrations in the genetically male brain are higher than those in the genetically female brain. Our study demonstrates that male brain cells retain male sex identity and do not differentiate into female cells to drive the normal oestrous cycle, even when situated in the female hormonal milieu. This is clear evidence for a sex-specific feature that develops independent of gonadal steroids.

  18. Genetic analysis of post-mating reproductive barriers in hybridizing European Populus species.

    Science.gov (United States)

    Macaya-Sanz, D; Suter, L; Joseph, J; Barbará, T; Alba, N; González-Martínez, S C; Widmer, A; Lexer, C

    2011-10-01

    Molecular genetic analyses of experimental crosses provide important information on the strength and nature of post-mating barriers to gene exchange between divergent populations, which are topics of great interest to evolutionary geneticists and breeders. Although not a trivial task in long-lived organisms such as trees, experimental interspecific recombinants can sometimes be created through controlled crosses involving natural F(1)'s. Here, we used this approach to understand the genetics of post-mating isolation and barriers to introgression in Populus alba and Populus tremula, two ecologically divergent, hybridizing forest trees. We studied 86 interspecific backcross (BC(1)) progeny and >350 individuals from natural populations of these species for up to 98 nuclear genetic markers, including microsatellites, indels and single nucleotide polymorphisms, and inferred the origin of the cytoplasm of the cross with plastid DNA. Genetic analysis of the BC(1) revealed extensive segregation distortions on six chromosomes, and >90% of these (12 out of 13) favored P. tremula donor alleles in the heterospecific genomic background. Since selection was documented during early diploid stages of the progeny, this surprising result was attributed to epistasis, cyto-nuclear coadaptation, heterozygote advantage at nuclear loci experiencing introgression or a combination of these. Our results indicate that gene flow across 'porous' species barriers affects these poplars and aspens beyond neutral, Mendelian expectations and suggests the mechanisms responsible. Contrary to expectations, the Populus sex determination region is not protected from introgression. Understanding the population dynamics of the Populus sex determination region will require tests based on natural interspecific hybrid zones.

  19. External and internal modulators of sheep reproduction.

    Science.gov (United States)

    Blache, Dominique; Bickell, Samantha L

    2011-12-01

    Several factors such as season, genetics, social interaction and metabolic status control or modulate the reproductive capacity of sheep. In addition to these well-studied factors in sheep, the influence of emotional reactivity on the reproductive success of sheep has started to be investigated over the last two decades. In this paper, after briefly reviewing the impact of classical factors affecting reproduction in sheep, we define emotional reactivity and the expression of its inter-individual variability, named temperament. Then, following a description of the protocol to measure temperament in sheep and discussion on the heritability of temperament traits, we illustrate how this selection affects the reproductive biology of sheep. We will be mainly using results obtained from a unique flock of sheep selected for low or high emotional reactivity. In conclusion, we propose that energy partitioning could be one of the mechanisms by which selection for temperament in sheep affects the different steps of the reproductive cycle.

  20. Genetic Parameters for Reproduction Traits of Prolificacy and Conventional Purebred Sows

    Directory of Open Access Journals (Sweden)

    Vitomir Vidović

    2012-05-01

    Full Text Available Research was performed on four farms were included in 1567 a highly fertile females Landrace and Yorkshire, and 24 boars of Danish origin, or 5294 consecutive parities, and in period 2009 - 2011 year. Studies of evaluations genetic parameters conventional breeds Landrace and Yorkshire were included in 2987 female mating with 46 male or 11 674 litters in the same period. Evaluated genetic parameters for litter size traits show the same tendency as the legality of the pure breed sows that produce 11-14 piglets weaned less per sow per year. Environmental factors, HYS, food technology and management showed no significant effect on the traits. Heritability and repeatability of live and still born piglets, litter size and the fifth days after birth and the number of piglets weaned in category of low hereditary traits whose values vary within the limits of 0.08 to 0.11 for the heritability and from 0.14 to 0.18 for the repeatability. There was tendency to lower values of genetic parameters in the conventional compared to highly fertile cows, which is considered the effect of selection on gene frequency for the observed properties.

  1. Population Genetic Structure and Reproductive Strategy of the Introduced Grass Centotheca lappacea in Tropical Land-Use Systems in Sumatra.

    Science.gov (United States)

    Hodač, Ladislav; Ulum, Fuad Bahrul; Opfermann, Nicole; Breidenbach, Natalie; Hojsgaard, Diego; Tjitrosoedirdjo, Sri Sudarmiyati; Vornam, Barbara; Finkeldey, Reiner; Hörandl, Elvira

    2016-01-01

    Intensive transformation of lowland rainforest into oil palm and rubber monocultures is the most common land-use practice in Sumatra (Indonesia), accompanied by invasion of weeds. In the Jambi province, Centotheca lappacea is one of the most abundant alien grass species in plantations and in jungle rubber (an extensively used agroforest), but largely missing in natural rainforests. Here, we investigated putative genetic differentiation and signatures for adaptation in the introduced area. We studied reproductive mode and ploidy level as putative factors for invasiveness of the species. We sampled 19 populations in oil palm and rubber monocultures and in jungle rubber in two regions (Bukit Duabelas and Harapan). Amplified fragment length polymorphisms (AFLP) revealed a high diversity of individual genotypes and only a weak differentiation among populations (FST = 0.173) and between the two regions (FST = 0.065). There was no significant genetic differentiation between the three land-use systems. The metapopulation of C. lappacea consists of five genetic partitions with high levels of admixture; all partitions appeared in both regions, but with different proportions. Within the Bukit Duabelas region we observed significant isolation-by-distance. Nine AFLP loci (5.3% of all loci) were under natural diversifying selection. All studied populations of C. lappacea were diploid, outcrossing and self-incompatible, without any hints of apomixis. The estimated residence time of c. 100 years coincides with the onset of rubber and oil palm planting in Sumatra. In the colonization process, the species is already in a phase of establishment, which may be enhanced by efficient selection acting on a highly diverse gene pool. In the land-use systems, seed dispersal might be enhanced by adhesive spikelets. At present, the abundance of established populations in intensively managed land-use systems might provide opportunities for rapid dispersal of C. lappacea across rural landscapes

  2. Newly breeding an inbred strain of ischemia-prone Mongolian gerbils and its reproduction and genetic characteristics.

    Science.gov (United States)

    Du, Xiaoyan; Wang, Dongping; Li, Ying; Huo, Xueyun; Li, Changlong; Lu, Jing; Wang, Ying; Guo, Meng; Chen, Zhenwen

    2018-02-09

    The Mongolian gerbil has been a useful laboratory animal in many research fields, especially in ischemia studies. However, due to the variation of the circle of Willis (COW), the ischemic model is unstable and various. To solve this problem, we newly established an inbred strain of gerbils, restricting breeding and keeping to F 23 . The data on the breeding and growth of the animals are described in the present study. The genetic characteristics of F 4 to F 20 detected by microsatellite DNA and biochemical markers are also shown here. The results demonstrated that the frequency of ischemic model by unilateral carotid occlusion and the frequency of incomplete COW increased, increasing from 50% and 75% in F 1 to 88.89% and 100% in F 20 , respectively. The ratios of consistent patterns of COW in parents were positively related with the number of inbred generations. A reproductive performance analysis indicated that the average size of litters in the inbred gerbils was less than that of outbred gerbils and that adult body weight was also lower in inbred gerbils; also, the pups in the 2nd litter were the best ones chosen to reproduce. The genetic detection results indicated that 26 out of 28 microsatellite loci and all 26 biochemical markers were homozygous in F 20 , showing comparably identical genetic composition in inbred gerbils. All the data demonstrated that an inbred strain of ischemia-prone gerbil has been established successfully. This strain can be used in stroke research and can largely reduce the number of animals needed in experiments.

  3. Functional genetic polymorphisms and female reproductive disorders: Part I: polycystic ovary syndrome and ovarian response

    OpenAIRE

    Simoni, M.; Tempfer, C.B.; Destenaves, B.; Fauser, B.C.J.M.

    2008-01-01

    BACKGROUND The identification of polymorphisms associated with a disease can help to elucidate its pathogenesis, and this knowledge can be used to improve prognosis for women with a particular disorder, such as polycystic ovary syndrome (PCOS). Since an altered response to ovarian stimulation is also a characteristic of the disease, further knowledge about its aetiology could help in defining the parameters that determine the response of an individual to ovarian stimulation. METHODS PubMed an...

  4. Management of primary ciliary dyskinesia/Kartagener's syndrome in infertile male patients and current progress in defining the underlying genetic mechanism

    Directory of Open Access Journals (Sweden)

    Yan-Wei Sha

    2014-02-01

    Full Text Available Kartagener's syndrome (KS is an autosomal recessive genetic disease accounting for approximately 50% of the cases of primary ciliary dyskinesia (PCD. As it is accompanied by many complications, PCD/KS severely affects the patient's quality of life. Therapeutic approaches for PCD/KS aim to enhance prevention, facilitate rapid definitive diagnosis, avoid misdiagnosis, maintain active treatment, control infection and postpone the development of lesions. In male patients, sperm flagella may show impairment in or complete absence of the ability to swing, which ultimately results in male infertility. Assisted reproductive technology will certainly benefit such patients. For PCD/KS patients with completely immotile sperm, intracytoplasmic sperm injection may be very important and even indispensable. Considering the number of PCD/KS susceptibility genes and mutations that are being identified, more extensive genetic screening is indispensable in patients with these diseases. Moreover, further studies into the potential molecular mechanisms of these diseases are required. In this review, we summarize the available information on various aspects of this disease in order to delineate the therapeutic objectives more clearly, and clarify the efficacy of assisted reproductive technology as a means of treatment for patients with PCD/KS-associated infertility.

  5. Simulation of quantitative characters by genes with biochemically definable action. III. The components of genetic effects in the inheritance of anthocyanins in Matthiola incana R. Br.

    Science.gov (United States)

    Jana, S; Seyffert, W

    1971-01-01

    In a self-pollinated plant species, Matthiola incana R. Br., six groups of isogenic lines were developed which were ideally suited for investigating the properties of individual genes controlling a quantitative character. Each group consisted of four homozygous parents for two alleles at each of the two loci in a common genetic background. A complete 4 × 4 diallel cross was obtained in each group. Because of the identical genetic background each diallel set could be considered as a genetic system of two loci. The biochemical functions of the alleles at each locus modifying the structure of the anthocyanin molecule were known. The phenotypes of the nine possible genotypes were qualitatively distinguishable by their flower colour differences. A quantitative measure of the phenotypic value associated with a genotype is the concentration of anthocyanins in flower tissues. In these simplified genetic systems, the nine phenotypic values could be expressed in terms of nine biometrical quantities, eight of which are attributable to the genetic effects of the alleles at the two loci under consideration. An unique solution of the set of nine equations in nine unknowns provided direct estimates of the parameters specifying additive, dominance and epistatic effects. Thus the effects of individual genes in a well-defined genetic background could be estimated by the use of a simple additive genetic model. An extension of the model provided estimates of the genetic parameters in different years and genetic backgrounds.Dominance was found to be the most important type of gene action in the inheritance of anthocyanin content in the flower tissues of M. incana. There was considerable epistasis, but the effect was very unstable over years and genetic backgrounds. The relative magnitude of additive effect was most stable. Heterosis was observed and was found to be largely due to dominance and additive × dominance interactions.

  6. The combination of genetic variants of the FSHB and FSHR genes affects serum FSH in women of reproductive age.

    Science.gov (United States)

    La Marca, A; Papaleo, E; Alviggi, C; Ruvolo, G; De Placido, G; Candiani, M; Cittadini, E; De Michele, F; Moriondo, V; Catellani, V; Volpe, A; Simoni, M

    2013-05-01

    What is the effect of FSHB-211G>T together with the FSHR 2039 A>G on serum FSH in women? Serum FSH levels are affected by the combination of genetic polymorphisms in FSHR and FSHB. The relationship between SNPs of the FSHR gene and serum FSH has not been completely clarified. Genetic variants of the FSHB gene have been associated with variation in gene transcription and serum FSH levels in men. No data have been published on the effect of the FSHB-211G>T in women, alone or in combination with the FSHR 2039 A>G. This study was a prospective study including 193 healthy women of reproductive age. Infertile and otherwise healthy eumenorrheic women (n = 193) with normal BMI and serum FSH levels were recruited for the study. In all women early follicular phase FSH and AMH were measured by commercial assays, and antral follicle count was measured by transvaginal ultrasound. Genomic DNA was purified from total peripheral blood and genotyping for the two SNPs was performed. No significant gradients of increasing or decreasing Day 3 FSH across the FSHR 2039 (AA/AG/GG) and FSHB-211 (GG/GT/TT) genotypes, respectively, were observed. When women were stratified according to the FSHR 2039, and FSHB-211 genotypes a statistically significant reduction of d3 FSH was shown in the group of women with the FSHB-211 GT + TT/FSHR2039 AA genotype compared with the FSHB-211 GG/FSHR2039 GG genotype, hence confirming a possible additive effect of the different SNPs in FSHR and FSHB on regulating serum FSH. This finding requires an independent confirmation. However, it confirms the relationship between serum FSH and FSHB together with FSHR gene polymorphisms already reported in males. The knowledge of the FSHB/FSHR genotype combination is fundamental for the proper interpretation of serum FSH levels in women of reproductive age. Merck Serono supported the study in the form of a research grant for the laboratory session. None of the authors have any competing interest to declare.

  7. Clonal reproduction and genetic caste differences in a queen-polymorphic ant, Vollenhovia emeryi.

    Science.gov (United States)

    Ohkawara, Kyohsuke; Nakayama, Megumi; Satoh, Atsumi; Trindl, Andreas; Heinze, Jürgen

    2006-09-22

    Most social Hymenoptera are characterized by simple haploid sex determination and environment-based caste differentiation. This appears to be strikingly different in the queen-polymorphic ant Vollenhovia emeryi. Almost all long- and short-winged queens from a population in Central Japan were homozygous at three microsatellite loci, whereas workers were mostly heterozygous, suggesting either a complex system of genetic caste determination or, more likely, the production of female sexuals from unfertilized eggs by thelytokous parthenogenesis and of workers from fertilized eggs. Furthermore, male genotypes were not compatible with those of the queens and had exclusively the paternal allele found in the sterile, heterozygous workers, probably because males are produced from fertilized eggs after the exclusion of maternal nuclear DNA as recently reported for Wasmannia auropunctata. The genus Vollenhovia might provide an interesting model system to trace the evolution of unusual caste and sex determination systems.

  8. Genetic and environmental variance and covariance parameters for some reproductive traits of Holstein and Jersey cattle in Antioquia (Colombia

    Directory of Open Access Journals (Sweden)

    Juan Carlos Zambrano

    2014-03-01

    Full Text Available The objective of this study was to estimate the genetic, phenotypic and environmental parameters for calving interval (CI, days open (DO, number of services per conception (NSC and conception rate (CR in Holstein and Jersey cattle in Antioquia (Colombia. Variance and covariance component estimates were obtained by an animal model that was solved using the derivative-free restricted maximum likelihood method. The means and standard deviations for CI, DO, NSC and CR were: 430.32±77.93 days, 127.15±76.96 days, 1.58±1.03 services per conception and 79.88±28.66% in Holstein cattle, and 409.33±86.48 days, 125.62±86.09 days, 1.48±0.98 services per conception and 84.08±27.23% in Jersey cattle, respectively. The heritability estimates (standard errors were: 0.088(0.037, 0.082(0.037, 0.040(0.025 and 0.030(0.026 in Holstein cattle and 0.072(0.098, 0.090(0.104, 0.093(0.097 and 0.147(0.117 in Jersey cattle, respectively. The results show that the genetic, phenotypic and permanent environmental correlations in the two evaluated breeds were favorable for CI × DO, CI × NSC and DO × NSC, but not for CI × CR, DO × CR and NSC × CR. Genetic and permanent environmental correlations were high in most cases in Holstein cattle, whereas in Jersey cattle they were moderate. In contrast, phenotypic correlations were very low in both breeds, except for CI × DO and NSC × CR, which were high. Overall, the genetic component found was very low (<8% in both evaluated breeds and this implies that their selection would take long time and that a good practical management of the herd will be essential in order to improve the reproductive performance.

  9. Contrasting effects of chloride on growth, reproduction, and toxicant sensitivity in two genetically distinct strains of Hyalella azteca.

    Science.gov (United States)

    Soucek, David J; Mount, David R; Dickinson, Amy; Hockett, J Russell; McEwen, Abigail R

    2015-10-01

    The strain of Hyalella azteca (Saussure: Amphipoda) commonly used for aquatic toxicity testing in the United States has been shown to perform poorly in some standardized reconstituted waters frequently used for other test species. In 10-d and 42-d experiments, the growth and reproduction of the US laboratory strain of H. azteca was shown to vary strongly with chloride concentration in the test water, with declining performance observed below 15 mg/L to 20 mg/L. In contrast to the chloride-dependent performance of the US laboratory strain of H. azteca, growth of a genetically distinct strain of H. azteca obtained from an Environment Canada laboratory in Burlington, Ontario, Canada, was not influenced by chloride concentration. In acute toxicity tests with the US laboratory strain of H. azteca, the acute toxicity of sodium nitrate increased with decreasing chloride in a pattern similar not only to that observed for control growth, but also to previous acute toxicity testing with sodium sulfate. Subsequent testing with the Burlington strain showed no significant relationship between chloride concentration and the acute toxicity of sodium nitrate or sodium sulfate. These findings suggest that the chloride-dependent toxicity shown for the US laboratory strain may be an unusual feature of that strain and perhaps not broadly representative of aquatic organisms as a whole. © 2015 SETAC.

  10. Ubiquitous LEA29Y Expression Blocks T Cell Co-Stimulation but Permits Sexual Reproduction in Genetically Modified Pigs.

    Science.gov (United States)

    Bähr, Andrea; Käser, Tobias; Kemter, Elisabeth; Gerner, Wilhelm; Kurome, Mayuko; Baars, Wiebke; Herbach, Nadja; Witter, Kirsti; Wünsch, Annegret; Talker, Stephanie C; Kessler, Barbara; Nagashima, Hiroshi; Saalmüller, Armin; Schwinzer, Reinhard; Wolf, Eckhard; Klymiuk, Nikolai

    2016-01-01

    We have successfully established and characterized a genetically modified pig line with ubiquitous expression of LEA29Y, a human CTLA4-Ig derivate. LEA29Y binds human B7.1/CD80 and B7.2/CD86 with high affinity and is thus a potent inhibitor of T cell co-stimulation via this pathway. We have characterized the expression pattern and the biological function of the transgene as well as its impact on the porcine immune system and have evaluated the potential of these transgenic pigs to propagate via assisted breeding methods. The analysis of LEA29Y expression in serum and multiple organs of CAG-LEA transgenic pigs revealed that these animals produce a biologically active transgenic product at a considerable level. They present with an immune system affected by transgene expression, but can be maintained until sexual maturity and propagated by assisted reproduction techniques. Based on previous experience with pancreatic islets expressing LEA29Y, tissues from CAG-LEA29Y transgenic pigs should be protected against rejection by human T cells. Furthermore, their immune-compromised phenotype makes CAG-LEA29Y transgenic pigs an interesting large animal model for testing human cell therapies and will provide an important tool for further clarifying the LEA29Y mode of action.

  11. From brute luck to option luck? On genetics, justice, and moral responsibility in reproduction.

    Science.gov (United States)

    Denier, Yvonne

    2010-04-01

    The structure of our ethical experience depends, crucially, on a fundamental distinction between what we are responsible for doing or deciding and what is given to us. As such, the boundary between chance and choice is the spine of our conventional morality, and any serious shift in that boundary is thoroughly dislocating. Against this background, I analyze the way in which techniques of prenatal genetic diagnosis (PGD) pose such a fundamental challenge to our conventional ideas of justice and moral responsibility. After a short description of the situation, I first examine the influential luck egalitarian theory of justice, which is based on the distinction between choice and luck or, more specifically, between option luck and brute luck, and the way in which it would approach PGD (section II), followed by an analysis of the conceptual incoherencies (in section III) and moral problems (in section IV) that come with such an approach. Put shortly, the case of PGD shows that the luck egalitarian approach fails to express equal respect for the individual choices of people. The paradox of the matter is that by overemphasizing the fact of choice as such, without regard for the social framework in which they are being made, or for the fundamental and existential nature of particular choices-like choosing to have children and not to undergo PGD or not to abort a handicapped fetus-such choices actually become impossible.

  12. A Quantitative Genetic Basis for Leaf Morphology in a Set of Precisely Defined Tomato Introgression Lines[C][W][OPEN

    Science.gov (United States)

    Chitwood, Daniel H.; Kumar, Ravi; Headland, Lauren R.; Ranjan, Aashish; Covington, Michael F.; Ichihashi, Yasunori; Fulop, Daniel; Jiménez-Gómez, José M.; Peng, Jie; Maloof, Julin N.; Sinha, Neelima R.

    2013-01-01

    Introgression lines (ILs), in which genetic material from wild tomato species is introgressed into a domesticated background, have been used extensively in tomato (Solanum lycopersicum) improvement. Here, we genotype an IL population derived from the wild desert tomato Solanum pennellii at ultrahigh density, providing the exact gene content harbored by each line. To take advantage of this information, we determine IL phenotypes for a suite of vegetative traits, ranging from leaf complexity, shape, and size to cellular traits, such as stomatal density and epidermal cell phenotypes. Elliptical Fourier descriptors on leaflet outlines provide a global analysis of highly heritable, intricate aspects of leaf morphology. We also demonstrate constraints between leaflet size and leaf complexity, pavement cell size, and stomatal density and show independent segregation of traits previously assumed to be genetically coregulated. Meta-analysis of previously measured traits in the ILs shows an unexpected relationship between leaf morphology and fruit sugar levels, which RNA-Seq data suggest may be attributable to genetically coregulated changes in fruit morphology or the impact of leaf shape on photosynthesis. Together, our results both improve upon the utility of an important genetic resource and attest to a complex, genetic basis for differences in leaf morphology between natural populations. PMID:23872539

  13. Estimation of heritabilities, genetic correlations, and breeding values of four traits that collectively define hip dysplasia in dogs.

    Science.gov (United States)

    Zhang, Zhiwu; Zhu, Lan; Sandler, Jody; Friedenberg, Steven S; Egelhoff, Jill; Williams, Alma J; Dykes, Nathan L; Hornbuckle, William; Krotscheck, Ursula; Moise, N Sydney; Lust, George; Todhunter, Rory J

    2009-04-01

    OBJECTIVE-To estimate heritabilities and genetic correlations among 4 traits of hip joints (distraction index [DI], dorsolateral subluxation [DLS] score, Norberg angle [NA], and extended-hip joint radiograph [EHR] score) and to derive the breeding values for these traits in dogs. ANIMALS-2,716 dogs of 17 breeds (1,551 dogs in which at least 1 hip joint trait was measured). PROCEDURES-The NA was measured, and an EHR score was assigned. Hip joint radiographs were obtained from some dogs to allow calculation of the DI and DLS score. Heritabilities, genetic correlations, and breeding values among the DI, DLS score, NA, and EHR score were calculated by use of a set of multiple-trait, derivative-free, restricted maximum likelihood computer programs. RESULTS-Among 2,716 dogs, 1,411 (52%) had an estimated inbreeding coefficient of 0%; the remaining dogs had a mean inbreeding coefficient of 6.21%. Estimated heritabilities were 0.61, 0.54, 0.73, and 0.76 for the DI, DLS score, NA, and EHR score, respectively. The EHR score was highly genetically correlated with the NA (r = -0.89) and was moderately genetically correlated with the DI (r = 0.69) and DLS score (r = -0.70). The NA was moderately genetically correlated with the DI (r = -0.69) and DLS score (r = 0.58). Genetic correlation between the DI and DLS score was high (r = -0.91). CONCLUSIONS AND CLINICAL RELEVANCE-Establishment of a selection index that makes use of breeding values jointly estimated from the DI, DLS score, NA, and EHR score should enhance breeding programs to reduce the incidence of hip dysplasia in dogs.

  14. Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect.

    Science.gov (United States)

    Vogelaar, Ingrid P; Ligtenberg, Marjolijn J L; van der Post, Rachel S; de Voer, Richarda M; Kets, C Marleen; Jansen, Trees J G; Jacobs, Liesbeth; Schreibelt, Gerty; de Vries, I Jolanda M; Netea, Mihai G; Hoogerbrugge, Nicoline

    2016-04-01

    Gastric cancer is caused by both genetic and environmental factors. A woman who suffered from recurrent candidiasis throughout her life developed diffuse-type gastric cancer at the age of 23 years. Using whole-exome sequencing we identified a germline homozygous missense variant in MYD88. Immunological assays on peripheral blood mononuclear cells revealed an impaired immune response upon stimulation with Candida albicans, characterized by a defective production of the cytokine interleukin-17. Our data suggest that a genetic defect in MYD88 results in an impaired immune response and may increase gastric cancer risk.

  15. An Analysis of the Influence of Selected Genetic and Hormonal Factors on the Occurrence of Depressive Symptoms in Late-Reproductive-Age Women

    Directory of Open Access Journals (Sweden)

    Anna Jurczak

    2015-03-01

    Full Text Available Background: The aim of this study was to analyze the influence of genetic and hormonal factors on incidences of depressive symptoms in late-reproductive-age women. Methods: The study was performed using the Beck Depression Inventory, the PCR, and genetic tests of 347 healthy late-reproductive-age Polish women. Results: The relationship between the level of anti-Müllerian hormone (AMH and depressive symptoms was not statistically significant (p > 0.05. Increases in age and FSH levels were accompanied by a decrease in AMH level in a significant way (p < 0.05. There were no statistically significant relationships between the distribution of genotypes and the frequency of alleles of the investigated polymorphisms and depressive symptoms according to the Beck Depression Inventory. Conclusions: (1 The presence of the s/s genotype of the 5-HTTLPR polymorphism in the serotonin transporter promoter region and the 3/3 genotype of the 30-bp VNTR polymorphism in the monoamine oxidase A promoter region does not contribute to the development of depressive symptoms in late-reproductive-age women. (2 A relationship between the level of anti-Müllerian hormone and depressive symptoms was not confirmed in the group of healthy late-reproductive-age women. (3 AMH level correlates negatively with FSH level and age, which confirms that AMH can be regarded as a factor reflecting the ovarian reserve.

  16. Effect of including genetic progress in milk yield on evaluating the use of sexed semen and other reproduction strategies in a dairy herd

    OpenAIRE

    Ettema, Jehan Frans; Østergaard, Søren,; Sørensen, M K

    2010-01-01

    Herd simulation modelling has been recognized as a relevant method to study reproduction management strategies in a dairy herd (Dijkhuizen et al., 1997; Marsh et al., 1987; Østergaard et al., 2005a). These models estimate the technical and economic effects of certain replacement and breeding strategies based on the phenotypical states of the individual animals over a number of years. Typically, the genetic levels of replacement heifers in these modelsare not different from those of the cullin...

  17. The Breda Study: Search for genetic factors involved in type 2 diabetes mellitus in a defined Dutch population

    NARCIS (Netherlands)

    Tilburg, Jonathan Hendrik Otto van

    2002-01-01

    Little is known about the nature of genetic variation underlying complex diseases in humans. The recognition that susceptibility to type 2 diabetes mellitus has a strong inherited component provides a mechanism for developing the molecular understanding of the pathogenesis of type 2 diabetes

  18. Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect

    NARCIS (Netherlands)

    Vogelaar, Ingrid P.; Ligtenberg, Marjolijn J L; van der Post, Rachel S.; de Voer, Richarda M.; Kets, C. Marleen; Jansen, Trees J G; Jacobs, Liesbeth; Schreibelt, Gerty; de Vries, I. Jolanda M; Netea, Mihai G.; Hoogerbrugge, Nicoline; Lubinski, Jan; Jakubowska, Anna; Teodorczyk, Urszula; Schackert, Hans K.; Aalfs, Cora M.; Gómez García, Encarna B.; Ranzani, Guglielmina N.; Molinaro, Valeria; van Hest, Liselotte P.; Hes, Frederik J.; Holinski-Feder, Elke; Genuardi, Maurizio; Ausems, Margreet G E M; Sijmons, Rolf H.; Wagner, Anja; van der Kolk, Lizet E.; Pinheiro, Hugo; Oliveira, Carla; Bjørnevoll, Inga; Høberg Vetti, Hildegunn; Van Krieken, J. Han J M

    2016-01-01

    Gastric cancer is caused by both genetic and environmental factors. A woman who suffered from recurrent candidiasis throughout her life developed diffuse-type gastric cancer at the age of 23 years. Using whole-exome sequencing we identified a germline homozygous missense variant in MYD88.

  19. Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect

    NARCIS (Netherlands)

    I.P. Vogelaar (Ingrid P.); M.J. Ligtenberg (Marjolijn); R.S. Van Der Post (Rachel S.); R.M. de Voer (Richarda M.); C.M. Kets; T.J.G. Jansen (Trees J. G.); L. Jacobs (Liesbeth); G. Schreibelt (Gerty); I.J.M. de Vries (Jolanda); M.G. Netea (Mihai); N. Hoogerbrugqe (N.); J. Lubinski (Jan); A. Jakubowska (Anna); U. Teodorczyk (Urszula); H.K. Schackert (Hans); C.M. Aalfs (Cora); E.B. Gómez García (Encarna); G.N. Ranzani (Guglielmina N.); V. Molinaro (Valeria); L.P. van Hest (Liselot); F.J. Hes (Frederik); E. Holinski-Feder (Elke); M. Genuardi (Maurizio); M.G.E.M. Ausems (Margreet); R.H. Sijmons (Rolf); A. Wagner (Anja); L. van der Kolk (Lizet); H. Pinheiro (Hugo); C. Oliveira (Carla); I. Bjørnevoll (Inga); H. Høberg Vetti (Hildegunn); J. Han; J.M. van Krieken

    2016-01-01

    textabstractGastric cancer is caused by both genetic and environmental factors. A woman who suffered from recurrent candidiasis throughout her life developed diffuse-type gastric cancer at the age of 23 years. Using whole-exome sequencing we identified a germline homozygous missense variant in

  20. Effect of including genetic Progress in milk yield on evaluating the use of sexed semen and other reproduction strategies in a dairy herd

    DEFF Research Database (Denmark)

    Ettema, Jehan F.; Østergaard, Søren; Sørensen, Morten Kargo

    2011-01-01

    The objective of this study was to explore the importance of including genetic progress in milk yield when evaluating different reproductive strategies in a dairy herd by simulation modeling. The model used in this study was SimHerd V, a dynamic and mechanistic Monte Carlo simulation model...... of a dairy herd including young stock. A daily increasing trend describing genetic milk yield potential of the sire population was included in the model. The inaccuracy of assuming that replacement heifers have the same (milk yield) potential as the cows present in the herd was hereby dealt with. Improving...... estrus detection rate from 0.45 to 0.80 increased gross margin (GM) per cow-year by €20 when genetic progress was not included in the model. When genetic progress was included in the model, then the same improvement in estrus detection decreased the GM per cow-year by €7.4. This reduced effect...

  1. Genetic and antigenic drift of Porcine Reproductive and Respiratory Syndrome Virus (PRRSV) in a closed population evaluated by full genome sequencing

    DEFF Research Database (Denmark)

    Kvisgaard, Lise Kirstine; Hjulsager, Charlotte Kristiane; Larsen, Lars Erik

    of circulating PRRS viruses in Danish pigs and to investigate the genetic drift of the virus in a closed population with very limited introductions of new animals. The study included phylogenetic analysis of full genome sequences of eight Type 1 and nine Type 2 PRRS viruses, including the very first Danish......Porcine Reproductive and Respiratory Syndrome (PRRS) viruses are divided into two major genotypes (Type 1 and Type 2) based on their genetic diversity. Type 1 PRRSV is further divided into at least 3 subtypes, but until now only subtype 1 has been detected in Western Europe and North America. Both...... isolated Type 1 virus and the very first Danish Type 2 PRRS virus isolated from a non-vaccinated pig herd. Furthermore, by sequencing ORF5 and ORF7 of 43 Type 1 and 57 Type 2 viruses isolated between 2003 and 2013, the level of genetic diversity was assessed. The results showed a very high genetic...

  2. Poppr: an R package for genetic analysis of populations with clonal, partially clonal, and/or sexual reproduction

    Directory of Open Access Journals (Sweden)

    Zhian N. Kamvar

    2014-03-01

    Full Text Available Many microbial, fungal, or oomcyete populations violate assumptions for population genetic analysis because these populations are clonal, admixed, partially clonal, and/or sexual. Furthermore, few tools exist that are specifically designed for analyzing data from clonal populations, making analysis difficult and haphazard. We developed the R package poppr providing unique tools for analysis of data from admixed, clonal, mixed, and/or sexual populations. Currently, poppr can be used for dominant/codominant and haploid/diploid genetic data. Data can be imported from several formats including GenAlEx formatted text files and can be analyzed on a user-defined hierarchy that includes unlimited levels of subpopulation structure and clone censoring. New functions include calculation of Bruvo’s distance for microsatellites, batch-analysis of the index of association with several indices of genotypic diversity, and graphing including dendrograms with bootstrap support and minimum spanning networks. While functions for genotypic diversity and clone censoring are specific for clonal populations, several functions found in poppr are also valuable to analysis of any populations. A manual with documentation and examples is provided. Poppr is open source and major releases are available on CRAN: http://cran.r-project.org/package=poppr. More supporting documentation and tutorials can be found under ‘resources’ at: http://grunwaldlab.cgrb.oregonstate.edu/.

  3. Increased genetic gains in sheep, beef and dairy breeding programs from using female reproductive technologies combined with optimal contribution selection and genomic breeding values.

    Science.gov (United States)

    Granleese, Tom; Clark, Samuel A; Swan, Andrew A; van der Werf, Julius H J

    2015-09-14

    Female reproductive technologies such as multiple ovulation and embryo transfer (MOET) and juvenile in vitro embryo production and embryo transfer (JIVET) can boost rates of genetic gain but they can also increase rates of inbreeding. Inbreeding can be managed using the principles of optimal contribution selection (OCS), which maximizes genetic gain while placing a penalty on the rate of inbreeding. We evaluated the potential benefits and synergies that exist between genomic selection (GS) and reproductive technologies under OCS for sheep and cattle breeding programs. Various breeding program scenarios were simulated stochastically including: (1) a sheep breeding program for the selection of a single trait that could be measured either early or late in life; (2) a beef breeding program with an early or late trait; and (3) a dairy breeding program with a sex limited trait. OCS was applied using a range of penalties (severe to no penalty) on co-ancestry of selection candidates, with the possibility of using multiple ovulation and embryo transfer (MOET) and/or juvenile in vitro embryo production and embryo transfer (JIVET) for females. Each breeding program was simulated with and without genomic selection. All breeding programs could be penalized to result in an inbreeding rate of 1 % increase per generation. The addition of MOET to artificial insemination or natural breeding (AI/N), without the use of GS yielded an extra 25 to 60 % genetic gain. The further addition of JIVET did not yield an extra genetic gain. When GS was used, MOET and MOET + JIVET programs increased rates of genetic gain by 38 to 76 % and 51 to 81 % compared to AI/N, respectively. Large increases in genetic gain were found across species when female reproductive technologies combined with genomic selection were applied and inbreeding was managed, especially for breeding programs that focus on the selection of traits measured late in life or that are sex-limited. Optimal contribution selection was

  4. Phylogenomics of the reproductive parasite Wolbachia pipientis wMel: a streamlined genome overrun by mobile genetic elements.

    Directory of Open Access Journals (Sweden)

    Martin Wu

    2004-03-01

    Full Text Available The complete sequence of the 1,267,782 bp genome of Wolbachia pipientis wMel, an obligate intracellular bacteria of Drosophila melanogaster, has been determined. Wolbachia, which are found in a variety of invertebrate species, are of great interest due to their diverse interactions with different hosts, which range from many forms of reproductive parasitism to mutualistic symbioses. Analysis of the wMel genome, in particular phylogenomic comparisons with other intracellular bacteria, has revealed many insights into the biology and evolution of wMel and Wolbachia in general. For example, the wMel genome is unique among sequenced obligate intracellular species in both being highly streamlined and containing very high levels of repetitive DNA and mobile DNA elements. This observation, coupled with multiple evolutionary reconstructions, suggests that natural selection is somewhat inefficient in wMel, most likely owing to the occurrence of repeated population bottlenecks. Genome analysis predicts many metabolic differences with the closely related Rickettsia species, including the presence of intact glycolysis and purine synthesis, which may compensate for an inability to obtain ATP directly from its host, as Rickettsia can. Other discoveries include the apparent inability of wMel to synthesize lipopolysaccharide and the presence of the most genes encoding proteins with ankyrin repeat domains of any prokaryotic genome yet sequenced. Despite the ability of wMel to infect the germline of its host, we find no evidence for either recent lateral gene transfer between wMel and D. melanogaster or older transfers between Wolbachia and any host. Evolutionary analysis further supports the hypothesis that mitochondria share a common ancestor with the alpha-Proteobacteria, but shows little support for the grouping of mitochondria with species in the order Rickettsiales. With the availability of the complete genomes of both species and excellent genetic tools for

  5. Defining genetic and chemical diversity in wheat grain by 1H-NMR spectroscopy of polar metabolites.

    Science.gov (United States)

    Shewry, Peter R; Corol, Delia I; Jones, Huw D; Beale, Michael H; Ward, Jane L

    2017-07-01

    The application of high-throughput 1H nuclear magnetic resonance (1H-NMR) of unpurified extracts to determine genetic diversity and the contents of polar components in grain of wheat. Milled whole wheat grain was extracted with 80:20 D2 O:CD3 OD containing 0.05% d4 -trimethylsilylpropionate. 1H-NMR spectra were acquired under automation at 300°K using an Avance Spectrometer operating at 600.0528 MHz. Regions for individual metabolites were identified by comparison to a library of known standards run under identical conditions. The individual 1H-NMR peaks or levels of known metabolites were then compared by Principal Component Analysis using SIMCA-P software. High-throughput 1H-NMR is an excellent tool to compare the extent of genetic diversity within and between wheat species, and to quantify specific components (including glycine betaine, choline, and asparagine) in individual genotypes. It can also be used to monitor changes in composition related to environmental factors and to support comparisons of the substantial equivalence of transgenic lines. © 2017 Rothamsted Research. Molecular Nutrition & Food Research Published by Wiley-VCH Verlag GmbH & Co. KGaA, Weinheim.

  6. [Public health ethics and reproduction].

    Science.gov (United States)

    Alexandrova-Yankulovska, S; Bozhinov, P; Bojinova, S

    2014-01-01

    Medical progress has enabled achievements that were not even thinkable earlier but at the same time society and public health have had to face new challenges. What are we ready to accept in the area of human reproduction? This paper aims at ethical analysis of Bulgarian laws on reproduction. The abortion debate nowadays has got new dimiension focusing not that much on its moral acceptability but rather on the acceptable indications for its performance. Is it ethical to perform abortion in case of undesired gender of the embryo or genetic malformations? Lots of moral issues mark the area of assisted reproduction which is due to the separation of the reproductive functions (ova, sperm and embryo donation, surrogacy), fragmentation of motherhood and fatherhood, differentiation of biological and social parenthood. Defining limits of acceptable interference or non-interference in human reproduction will never be easy, but dynamics of moral judgment shouldn't bother us. The rigidity of moral norms is what should be alarming because it threatens procreative autonomy.

  7. Reproductive autonomy: A case study

    African Journals Online (AJOL)

    Reproductive autonomy (RA) has been challenged by the availability of genetic information, disability and the ethics of selective reproduction. ... inclusivity, recognising and providing persons with disabilities opportunities for capability and worthwhile lives. ... Many feminist authors postulate that malestream moral theory.

  8. Association of single nucleotide polymorphisms in candidate genes previously related to genetic variation in fertility with phenotypic measurements of reproductive function in Holstein cows.

    Science.gov (United States)

    Ortega, M Sofia; Denicol, Anna C; Cole, John B; Null, Daniel J; Taylor, Jeremy F; Schnabel, Robert D; Hansen, Peter J

    2017-05-01

    Many genetic markers related to health or production traits are not evaluated in populations independent of the discovery population or related to phenotype. Here we evaluated 68 single nucleotide polymorphisms (SNP) in candidate genes previously associated with genetic merit for fertility and production traits for association with phenotypic measurements of fertility in a population of Holstein cows that was selected based on predicted transmitting ability (PTA) for daughter pregnancy rate (DPR; high, ≥1, n = 989; low, ≤ -1.0, n = 1,285). Cows with a high PTA for DPR had higher pregnancy rate at first service, fewer services per conception, and fewer days open than cows with a low PTA for DPR. Of the 68 SNP, 11 were associated with pregnancy rate at first service, 16 with services per conception, and 19 with days open. Single nucleotide polymorphisms in 12 genes (BDH2, BSP3, CAST, CD2, CD14, FUT1, FYB, GCNT3, HSD17B7, IBSP, OCLN, and PCCB) had significant associations with 2 fertility traits, and SNP in 4 genes (CSPP1, FCER1G, PMM2, and TBC1D24) had significant associations with each of the 3 traits. Results from this experiment were compared with results from 2 earlier studies in which the SNP were associated with genetic estimates of fertility. One study involved the same animals as used here, and the other study was of an independent population of bulls. A total of 13 SNP associated with 1 or more phenotypic estimates of fertility were directionally associated with genetic estimates of fertility in the same cow population. Moreover, 14 SNP associated with reproductive phenotype were directionally associated with genetic estimates of fertility in the bull population. Nine SNP (located in BCAS, BSP3, CAST, FUT1, HSD17B7, OCLN, PCCB, PMM2, and TBC1D24) had a directional association with fertility in all 3 studies. Examination of the function of the genes with SNP associated with reproduction in more than one study indicates the importance of steroid hormones

  9. Whole exome sequencing: a state-of-the-art approach for defining (and exploring!) genetic landscapes in pediatric nephrology.

    Science.gov (United States)

    Gulati, Ashima; Somlo, Stefan

    2017-06-29

    The genesis of whole exome sequencing as a powerful tool for detailing the protein coding sequence of the human genome was conceptualized based on the availability of next-generation sequencing technology and knowledge of the human reference genome. The field of pediatric nephrology enriched with molecularly unsolved phenotypes is allowing the clinical and research application of whole exome sequencing to enable novel gene discovery and provide amendment of phenotypic misclassification. Recent studies in the field have informed us that newer high-throughput sequencing techniques are likely to be of high yield when applied in conjunction with conventional genomic approaches such as linkage analysis and other strategies used to focus subsequent analysis. They have also emphasized the need for the validation of novel genetic findings in large collaborative cohorts and the production of robust corroborative biological data. The well-structured application of comprehensive genomic testing in clinical and research arenas will hopefully continue to advance patient care and precision medicine, but does call for attention to be paid to its integrated challenges.

  10. Induced variations in brassinosteroid genes define barley height and sturdiness, and expand the green revolution genetic toolkit.

    Science.gov (United States)

    Dockter, Christoph; Gruszka, Damian; Braumann, Ilka; Druka, Arnis; Druka, Ilze; Franckowiak, Jerome; Gough, Simon P; Janeczko, Anna; Kurowska, Marzena; Lundqvist, Joakim; Lundqvist, Udda; Marzec, Marek; Matyszczak, Izabela; Müller, André H; Oklestkova, Jana; Schulz, Burkhard; Zakhrabekova, Shakhira; Hansson, Mats

    2014-12-01

    Reduced plant height and culm robustness are quantitative characteristics important for assuring cereal crop yield and quality under adverse weather conditions. A very limited number of short-culm mutant alleles were introduced into commercial crop cultivars during the Green Revolution. We identified phenotypic traits, including sturdy culm, specific for deficiencies in brassinosteroid biosynthesis and signaling in semidwarf mutants of barley (Hordeum vulgare). This set of characteristic traits was explored to perform a phenotypic screen of near-isogenic short-culm mutant lines from the brachytic, breviaristatum, dense spike, erectoides, semibrachytic, semidwarf, and slender dwarf mutant groups. In silico mapping of brassinosteroid-related genes in the barley genome in combination with sequencing of barley mutant lines assigned more than 20 historic mutants to three brassinosteroid-biosynthesis genes (BRASSINOSTEROID-6-OXIDASE, CONSTITUTIVE PHOTOMORPHOGENIC DWARF, and DIMINUTO) and one brassinosteroid-signaling gene (BRASSINOSTEROID-INSENSITIVE1 [HvBRI1]). Analyses of F2 and M2 populations, allelic crosses, and modeling of nonsynonymous amino acid exchanges in protein crystal structures gave a further understanding of the control of barley plant architecture and sturdiness by brassinosteroid-related genes. Alternatives to the widely used but highly temperature-sensitive uzu1.a allele of HvBRI1 represent potential genetic building blocks for breeding strategies with sturdy and climate-tolerant barley cultivars. © 2014 American Society of Plant Biologists. All Rights Reserved.

  11. EGLN1 involvement in high-altitude adaptation revealed through genetic analysis of extreme constitution types defined in Ayurveda

    Science.gov (United States)

    Aggarwal, Shilpi; Negi, Sapna; Jha, Pankaj; Singh, Prashant K.; Stobdan, Tsering; Pasha, M. A. Qadar; Ghosh, Saurabh; Agrawal, Anurag; Prasher, Bhavana; Mukerji, Mitali; Brahmachari, S. K.; Majumder, P. P.; Mukerji, M.; Habib, S.; Dash, D.; Ray, K.; Bahl, S.; Singh, L.; Sharma, A.; Roychoudhury, S.; Chandak, G. R.; Thangaraj, K.; Parmar, D.; Sengupta, S.; Bharadwaj, D.; Rath, S. K.; Singh, J.; Jha, G. N.; Virdi, K.; Rao, V. R.; Sinha, S.; Singh, A.; Mitra, A. K.; Mishra, S. K.; Pasha, Q.; Sivasubbu, S.; Pandey, R.; Baral, A.; Singh, P. K.; Sharma, A.; Kumar, J.; Stobdan, T.; Bhasin, Y.; Chauhan, C.; Hussain, A.; Sundaramoorthy, E.; Singh, S. P.; Bandyopadhyay, A.; Dasgupta, K.; Reddy, A. K.; Spurgeon, C. J.; Idris, M. M.; Khanna, V.; Dhawan, A.; Anand, M.; Shankar, R.; Bharti, R. S.; Singh, M.; Singh, A. P.; Khan, A. J.; Shah, P. P.; Pant, A. B.; Kaur, R.; Bisht, K. K.; Kumar, A.; Rajamanickam, V.; Wilson, E.; Thangadurai, A.; Jha, P. K.; Maulik, M.; Makhija, N.; Rahim, A.; Sharma, S.; Chopra, R.; Rana, P.; Chidambaram, M.; Maitra, A.; Chawla, R.; Soni, S.; Khurana, P.; Khan, M. N.; Sutar, S. D.; Tuteja, A.; Narayansamy, K.; Shukla, R.; Prakash, S.; Mahurkar, S.; Mani, K. Radha; Hemavathi, J.; Bhaskar, S.; Khanna, P.; Ramalakshmi, G. S.; Tripathi, S. M.; Thakur, N.; Ghosh, B.; Kukreti, R.; Madan, T.; Verma, R.; Sudheer, G.; Mahajan, A.; Chavali, S.; Tabassum, R.; Grover, S.; Gupta, M.; Batra, J.; Kumar, A.; Nejatizadeh, A.; Vaid, M.; Das, S. K.; Sharma, S.; Sharma, M.; Chatterjee, R.; Paul, J. A.; Srivastava, P.; Rajput, C.; Mittal, U.; Singh, M.; Hariharan, M.; Das, S.; Chaudhuri, K.; Sengupta, M.; Acharya, M.; Bhattacharyya, A.; Saha, A.; Biswas, A.; Chaki, M.; Gupta, A.; Mukherjee, S.; Mookherjee, S.; Chattopadhyay, I.; Banerjee, T.; Chakravorty, M.; Misra, C.; Monadal, G.; Sengupta, S.; Dutta, De. D.; Bajaj, S.; Deb, I.; Banerjee, A.; Chowdhury, R.; Banerjee, D.; Kumar, D.; Das, S. R.; Tiwari, S.; Bharadwaj, A.; Khanna, S.; Ahmed, I.; Parveen, S.; Singh, N.; Dasgupta, D.; Bisht, S. S.; Rajput, R.; Ghosh, B.; Kumar, N.; Chaurasia, A.; Abraham, J. K.; Sinha, A.; Scaria, V.; Sethi, T. P.; Mandal, A. K.; Mukhopadhyay, A.

    2010-01-01

    It is being realized that identification of subgroups within normal controls corresponding to contrasting disease susceptibility is likely to lead to more effective predictive marker discovery. We have previously used the Ayurvedic concept of Prakriti, which relates to phenotypic differences in normal individuals, including response to external environment as well as susceptibility to diseases, to explore molecular differences between three contrasting Prakriti types: Vata, Pitta, and Kapha. EGLN1 was one among 251 differentially expressed genes between the Prakriti types. In the present study, we report a link between high-altitude adaptation and common variations rs479200 (C/T) and rs480902 (T/C) in the EGLN1 gene. Furthermore, the TT genotype of rs479200, which was more frequent in Kapha types and correlated with higher expression of EGLN1, was associated with patients suffering from high-altitude pulmonary edema, whereas it was present at a significantly lower frequency in Pitta and nearly absent in natives of high altitude. Analysis of Human Genome Diversity Panel-Centre d’Etude du Polymorphisme Humain (HGDP-CEPH) and Indian Genome Variation Consortium panels showed that disparate genetic lineages at high altitudes share the same ancestral allele (T) of rs480902 that is overrepresented in Pitta and positively correlated with altitude globally (P < 0.001), including in India. Thus, EGLN1 polymorphisms are associated with high-altitude adaptation, and a genotype rare in highlanders but overrepresented in a subgroup of normal lowlanders discernable by Ayurveda may confer increased risk for high-altitude pulmonary edema. PMID:20956315

  12. [Aggression and acoustic startle response in adult and infant rats with genetically defined aggression towards man and its absence].

    Science.gov (United States)

    Naumenko, V S; Kozhemiakina, R V; Pliusnina, I Z; Popova, N K

    2013-01-01

    The aim of the current study was to investigate the association between expression of acoustic startle response and fear-induced aggression. The intensity of aggressive response towards man and acoustic startle response in adult and 15-day old Norway rats selectively bred for 70 generation for high level or the lack of fear-induced aggression was studied. Adult rats of aggressive strain demonstrated high aggression and increased amplitude of acoustic startle response compared to rats selectively bred for the lack of fear-induced aggression. It was found that, in contrast to infant rats of tame strain, 15-day old rat pups of aggressive strain demonstrated distinct aggressive response towards man, although this response was not as intensive as in adult rats of this strain. There was no considerable difference between aggressive and tame infants in amplitude of acoustic startle response. Significant habituation of startle response was shown in adult rats of aggressive strain, whereas in 15-day old rat pups of aggressive rat strain amplitude of startle response remained unaltered. Both adult and infant rats of tame strain demonstrated considerable habituation of startle response. Thus, defensive aggression in rats with genetic predisposition to fear-induced aggression appears quite early--at eyes opening they demonstrate a pronounced aggressive response toward man. The acoustic startle reflex is one of the elements of complex behavior--fear-induced aggression, and this element is involved in the enhancement of aggressive response towards man in adult rats but does not play any essential role in infant aggressiveness.

  13. Reproductive isolation and genetic differentiation of dry land and bog populations of Pinus sylvestris L. in Western Siberia and Russian Plain

    Directory of Open Access Journals (Sweden)

    I. V. Petrova

    2017-08-01

    Full Text Available The results of large-scale interdisciplinary ecological and geographical researches (1973–2015 years, environmental gradients, reproductive isolation, genetic and phenotypic differentiation of Scots pine (Pinus sylvestris L. populations of the dry lands and the adjacent bogs in Western Siberia and the Russian Plain have been generalized. The strong regime gradients of the physical, chemical, and especially hydrothermal factors of the pine populations edafotope on dry lands and adjacent high bogs in the sub-forest-steppe, in the middle and northern taiga (in a less degree of Western Siberia have been revealed. The stable reproductive isolation of populations on the high bogs and (to a lesser extent on the transitional bogs from the dry land ones, which is determinated by a later dates of the peat substrate heating, a differences in the phases of pollination-“flowering” (reception of trees, and its increase in the general direction from the northwest to the southeast of the Russian Plain and the Western Siberia, has been determined. The significant genetic distances Nei (1978 and their gradients (bounds between the dry land and adjacent bog populations in the south of forest zone (at the local population level, and lower gradients in the northern taiga subzones, as well as in transitional bogs have been found. For the first time the clear boundary between populations of P. sylvestris L. on the dry land and adjacent high bog (in the continuous areal has been determined as a result of stationary palaeobotanical, ecological, phenological, morphological-anatomical-phenotypic and allozyme studies. An outline of hypothetical-deductive theory of genetic divergence of bog P. sylvestris populations from dry land ones in Holocene under the influence of the disruptive selection and the other factors of microevolution, which is proceed in the conditions of strongly contrasting environment and reproductive isolation has been substantiated through the

  14. The episode of genetic drift defining the migration of humans out of Africa is derived from a large east African population size.

    Science.gov (United States)

    Elhassan, Nuha; Gebremeskel, Eyoab Iyasu; Elnour, Mohamed Ali; Isabirye, Dan; Okello, John; Hussien, Ayman; Kwiatksowski, Dominic; Hirbo, Jibril; Tishkoff, Sara; Ibrahim, Muntaser E

    2014-01-01

    Human genetic variation particularly in Africa is still poorly understood. This is despite a consensus on the large African effective population size compared to populations from other continents. Based on sequencing of the mitochondrial Cytochrome C Oxidase subunit II (MT-CO2), and genome wide microsatellite data we observe evidence suggesting the effective size (Ne) of humans to be larger than the current estimates, with a foci of increased genetic diversity in east Africa, and a population size of east Africans being at least 2-6 fold larger than other populations. Both phylogenetic and network analysis indicate that east Africans possess more ancestral lineages in comparison to various continental populations placing them at the root of the human evolutionary tree. Our results also affirm east Africa as the likely spot from which migration towards Asia has taken place. The study reflects the spectacular level of sequence variation within east Africans in comparison to the global sample, and appeals for further studies that may contribute towards filling the existing gaps in the database. The implication of these data to current genomic research, as well as the need to carry out defined studies of human genetic variation that includes more African populations; particularly east Africans is paramount.

  15. The episode of genetic drift defining the migration of humans out of Africa is derived from a large east African population size.

    Directory of Open Access Journals (Sweden)

    Nuha Elhassan

    Full Text Available Human genetic variation particularly in Africa is still poorly understood. This is despite a consensus on the large African effective population size compared to populations from other continents. Based on sequencing of the mitochondrial Cytochrome C Oxidase subunit II (MT-CO2, and genome wide microsatellite data we observe evidence suggesting the effective size (Ne of humans to be larger than the current estimates, with a foci of increased genetic diversity in east Africa, and a population size of east Africans being at least 2-6 fold larger than other populations. Both phylogenetic and network analysis indicate that east Africans possess more ancestral lineages in comparison to various continental populations placing them at the root of the human evolutionary tree. Our results also affirm east Africa as the likely spot from which migration towards Asia has taken place. The study reflects the spectacular level of sequence variation within east Africans in comparison to the global sample, and appeals for further studies that may contribute towards filling the existing gaps in the database. The implication of these data to current genomic research, as well as the need to carry out defined studies of human genetic variation that includes more African populations; particularly east Africans is paramount.

  16. Genetic correlations between first parity and accumulated second to last parity reproduction traits as selection aids to improve sow lifetime productivity

    Directory of Open Access Journals (Sweden)

    Udomsak Noppibool

    2017-03-01

    Full Text Available Objective The objective of this research was to estimate genetic correlations between number of piglets born alive in the first parity (NBA1, litter birth weight in the first parity (LTBW1, number of piglets weaned in the first parity (NPW1, litter weaning weight in the first parity (LTWW1, number of piglets born alive from second to last parity (NBA2+, litter birth weight from second to last parity (LTBW2+, number of piglets weaned from second to last parity (NPW2+ and litter weaning weight from second to last parity (LTWW2+, and to identify the percentages of animals (the top 10%, 25%, and 50% for first parity and sums of second and later parity traits. Methods The 9,830 records consisted of 2,124 Landrace (L, 724 Yorkshire (Y, 2,650 LY, and 4,332 YL that had their first farrowing between July 1989 and December 2013. The 8-trait animal model included the fixed effects of first farrowing year-season, additive genetic group, heterosis of the sow and the litter, age at first farrowing, and days to weaning (NPW1, LTWW1, NPW2+, and LTWW2+. Random effects were animal and residual. Results Heritability estimates ranged from 0.08±0.02 (NBA1 and NPW1 to 0.29±0.02 (NPW2+. Genetic correlations between reproduction traits in the first parity and from second to last parity ranged from 0.17±0.08 (LTBW1 and LTBW2+ to 0.67±0.06 (LTWW1 and LTWW2+. Phenotypic correlations between reproduction traits in the first parity and from second to last parity were close to zero. Rank correlations between LTWW1 and LTWW2+ estimated breeding value tended to be higher than for other pairs of traits across all replacement percentages. Conclusion These rank correlations indicated that selecting boars and sows using genetic predictions for first parity reproduction traits would help improve reproduction traits in the second and later parities as well as lifetime productivity in this swine population.

  17. pH dependency of sclerotial development and pathogenicity revealed by using genetically defined oxalate-minus mutants of Sclerotinia sclerotiorum.

    Science.gov (United States)

    Xu, Liangsheng; Xiang, Meichun; White, David; Chen, Weidong

    2015-08-01

    The devastating plant pathogen Sclerotinia sclerotiorum produces copious (up to 50 mM) amounts of oxalic acid, which, for over a quarter century, has been claimed as the pathogenicity determinant based on UV-induced mutants that concomitantly lost oxalate production and pathogenicity. Such a claim was made without fulfilling the molecular Koch's postulates because the UV mutants are genetically undefined and harbour a developmental defect in sclerotial production. Here, we generated oxalate-minus mutants of S. sclerotiorum using two independent mutagenesis techniques, and tested the resulting mutants for growth at different pHs and for pathogenicity on four host plants. The oxalate-minus mutants accumulated fumaric acid, produced functional sclerotia and have reduced ability to acidify the environment. The oxalate-minus mutants retained pathogenicity on plants, but their virulence varied depending on the pH and buffering capacity of host tissue. Acidifying the host tissue enhanced virulence of the oxalate-minus mutants, whereas supplementing with oxalate did not. These results suggest that it is low pH, not oxalic acid itself, that establishes the optimum conditions for growth, reproduction, pathogenicity and virulence expression of S. sclerotiorum. Exonerating oxalic acid as the primary pathogenicity determinant will stimulate research into identifying additional candidates as pathogenicity factors towards better understanding and managing Sclerotinia diseases. © 2015 Society for Applied Microbiology and John Wiley & Sons Ltd.

  18. Dietary protein:carbohydrate balance is a critical modulator of lifespan and reproduction in Drosophila melanogaster: a test using a chemically defined diet.

    Science.gov (United States)

    Lee, Kwang Pum

    2015-04-01

    Macronutrient balance is an important determinant of fitness in many animals, including insects. Previous studies have shown that altering the concentrations of yeast and sugar in the semi-synthetic media has a profound impact on lifespan in Drosophila melanogaster, suggesting that dietary protein:carbohydrate (P:C) balance is the main driver of lifespan and ageing processes. However, since yeast is rich in multiple nutrients other than proteins, this lifespan-determining role of dietary P:C balance needs to be further substantiated through trials using a chemically-defined, synthetic diet. In the present study, the effects of dietary P:C balance on lifespan and fecundity were investigated in female D. melanogaster flies fed on one of eight isocaloric synthetic diets differing in P:C ratio (0:1, 1:16, 1:8, 1:4, 1:2, 1:1, 2:1 or 4:1). Lifespan and dietary P:C ratio were related in a convex manner, with lifespan increasing to a peak at the two intermediate P:C ratios (1:2 and 1:4) and falling at the imbalanced ratios (0:1 and 4:1). Ingesting nutritionally imbalanced diets not only caused an earlier onset of senescence but also accelerated the age-dependent increase in mortality. Egg production was suppressed when flies were fed on a protein-deficient food (0:1), but increased with increasing dietary P:C ratio. Long-lived flies at the intermediate P:C ratios (1:2 and 1:4) stored a greater amount of lipids than those short-lived ones at the two imbalanced ratios (0:1 and 4:1). These findings provide a strong support to the notion that adequate dietary P:C balance is crucial for extending lifespan in D. melanogaster and offer new insights into how dietary P:C balance affects lifespan and ageing through its impacts on body composition. Copyright © 2015 Elsevier Ltd. All rights reserved.

  19. Alternative reproductive strategies of Hypocrea orientalis and genetically close but clonal Trichoderma longibrachiatum, both capable of causing invasive mycoses of humans.

    Science.gov (United States)

    Druzhinina, Irina S; Komoń-Zelazowska, Monika; Kredics, László; Hatvani, Lóránt; Antal, Zsuzsanna; Belayneh, Temesgen; Kubicek, Christian P

    2008-11-01

    The common soil fungus Trichoderma (teleomorph Hypocrea, Ascomycota) shows increasing medical importance as an opportunistic human pathogen, particularly in immunocompromised and immunosuppressed patients. Regardless of the disease type and the therapy used, the prognosis for Trichoderma infection is usually poor. Trichoderma longibrachiatum has been identified as the causal agent in the majority of reported Trichoderma mycoses. As T. longibrachiatum is very common in environmental samples from all over the world, the relationship between its clinical and wild strains remains unclear. Here we performed a multilocus (ITS1 and 2, tef1, cal1 and chit18-5) phylogenetic analysis of all available clinical isolates (15) and 36 wild-type strains of the fungus including several cultures of its putative teleomorph Hypocrea orientalis. The concordance of gene genealogies recognized T. longibrachiatum and H. orientalis to be different phylogenetic species, which are reproductively isolated from each other. The majority of clinical strains (12) were attributed to T. longibrachiatum but three isolates belonged to H. orientalis, which broadens the phylogenetic span of human opportunists in the genus. Despite their genetic isolation, T. longibrachiatum and H. orientalis were shown to be cosmopolitan sympatric species with no bias towards certain geographical locations. The analysis of haplotype association, incongruence of tree topologies and the split decomposition method supported the conclusion that H. orientalis is sexually recombining whereas strict clonality prevails in T. longibrachiatum. This is a rare case of occurrence of sexual reproduction in opportunistic pathogenic fungi. The discovery of the different reproduction strategies in these two closely related species is medically relevant because it is likely that they would also differ in virulence and/or drug resistance. Genetic identity of environmental and clinical isolates of T. longibrachiatum and H. orientalis

  20. Reproductive strategy, clonal structure and genetic diversity in populations of the aquatic macrophyte Sparganium emersum in river systems

    NARCIS (Netherlands)

    Pollux, B.J.A.; de Jong, M.D.E.; Steegh, A.; Verbruggen, E.; Van Groenendael, J.M.; Ouborg, N.J.

    2007-01-01

    Many aquatic and riparian plant species are characterized by the ability to reproduce both sexually and asexually. Yet, little is known about how spatial variation in sexual and asexual reproduction affects the genotypic diversity within populations of aquatic and riparian plants. We used six

  1. Role of evolutionary and ecological factors in the reproductive success and the spatial genetic structure of the temperate gorgonian Paramuricea clavata.

    Science.gov (United States)

    Mokhtar-Jamaï, Kenza; Coma, Rafel; Wang, Jinliang; Zuberer, Frederic; Féral, Jean-Pierre; Aurelle, Didier

    2013-06-01

    Dispersal and mating features strongly influence the evolutionary dynamics and the spatial genetic structure (SGS) of marine populations. For the first time in a marine invertebrate, we examined individual reproductive success, by conducting larval paternity assignments after a natural spawning event, combined with a small-scale SGS analysis within a population of the gorgonian Paramuricea clavata. Thirty four percent of the larvae were sired by male colonies surrounding the brooding female colonies, revealing that the bulk of the mating was accomplished by males from outside the studied area. Male success increased with male height and decreased with increasing male to female distance. The parentage analyses, with a strong level of self-recruitment (25%), unveiled the occurrence of a complex family structure at a small spatial scale, consistent with the limited larval dispersal of this species. However, no evidence of small scale SGS was revealed despite this family structure. Furthermore, temporal genetic structure was not observed, which appears to be related to the rather large effective population size. The low level of inbreeding found suggests a pattern of random mating in this species, which disagrees with expectations that limited larval dispersal should lead to biparental inbreeding. Surface brooding and investment in sexual reproduction in P. clavata contribute to multiple paternity (on average 6.4 fathers were assigned per brood), which enhance genetic diversity of the brood. Several factors may have contributed to the lack of biparental inbreeding in our study such as (i) the lack of sperm limitation at a small scale, (ii) multiple paternity, and (iii) the large effective population size. Thus, our results indicate that limited larval dispersal and complex family structure do not necessarily lead to biparental inbreeding and SGS. In the framework of conservation purposes, our results suggested that colony size, proximity among colonies and the

  2. Pollen limitation and reduced reproductive success are associated with local genetic effects in Prunus virginiana, a widely distributed self-incompatible shrub.

    Science.gov (United States)

    Suarez-Gonzalez, Adriana; Good, Sara V

    2014-03-01

    A vast quantity of empirical evidence suggests that insufficient quantity or quality of pollen may lead to a reduction in fruit set, in particular for self-incompatible species. This study uses an integrative approach that combines field research with marker gene analysis to understand the factors affecting reproductive success in a widely distributed self-incompatible species, Prunus virginiana (Rosaceae). Twelve patches of P. virginiana distributed within three populations that differed in degree of disturbance were examined. Two of the sites were small (7-35 km(2)) remnants of forest in an intensively used agricultural landscape, while the third was continuous (350 km(2)) and less disturbed. Field studies (natural and hand cross-pollinations) were combined with marker gene analyses (microsatellites and S-locus) in order to explore potential factors affecting pollen delivery and consequently reproductive success at landscape (between populations) and fine scales (within populations). Reductions in reproductive output were found in the two fragments compared with the continuous population, and suggest that pollen is an important factor limiting fruit production. Genetic analyses carried out in one of the fragments and in the continuous site suggest that even though S-allele diversity is high in both populations, the fragment exhibits an increase in biparental inbreeding and correlated paternity. The increase in biparental inbreeding in the fragment is potentially attributable to variation in the density of individuals and/or the spatial distribution of genotypes among populations, both of which could alter mating dynamics. By using a novel integrative approach, this study shows that even though P. virginiana is a widespread species, fragmented populations can experience significant reductions in fruit set and pollen limitation in the field. Deatiled examination of one fragmented population suggests that these linitations may be explained by an increase in

  3. Novel ETHE1 mutation in a carrier couple having prior offspring affected with ethylmalonic encephalopathy: Genetic analysis, clinical management and reproductive outcome.

    LENUS (Irish Health Repository)

    Walsh, David J

    2010-03-01

    Ethylmalonic encephalopathy (EE) is an autosomally recessive inherited disorder with a relentlessly progressive decline in neurological function, usually fatal by the age of ten. It is characterised by generalised hypotonia, psychomotor regression, spastic tetraparesis, dystonia, seizures and, eventually, global neurological failure. Approximately 50 reports have been published worldwide describing this devastating disease, most involving patients of Mediterranean or Arab origin. The fundamental defect in EE likely involves the impairment of a mitochondrial sulphur dioxygenase coded by the ETHE1 gene responsible for the catabolism of sulphide, which subsequently accumulates to toxic levels. A diagnosis of EE should initiate careful genetic evaluation and counselling, particularly if the parents intend to have additional offspring. The present report describes the diagnosis of EE in a reproductive endocrinology context, where both members of a non-consanguineous couple were confirmed to be carriers of an identical A↷G mutation. This previously unknown mutation at nucleotide position c.494 resulted in an amino acid substitution, p.Asp165Gly. Although consideration was given to in vitro fertilisation, embryo biopsy and single gene pre-implantation genetic diagnosis, the couple decided to first utilise a less aggressive therapeutic approach with donor sperm insemination. Pregnancy with a low risk of EE was indeed achieved; however, the infant was affected with a different anomaly (hypoplastic left heart). As this case demonstrates, prior to the initiation of fertility therapy, genetic analysis may be used to provide a confirmatory diagnosis when EE is suspected.

  4. Humans are not cooperative breeders but practice biocultural reproduction.

    Science.gov (United States)

    Bogin, Barry; Bragg, Jared; Kuzawa, Christopher

    2014-01-01

    Alloparental care and feeding of young is often called "cooperative breeding" and humans are increasingly described as being a cooperative breeding species. To critically evaluate whether the human offspring care system is best grouped with that of other cooperative breeders. (1) Review of the human system of offspring care in the light of definitions of cooperative, communal and social breeding; (2) re-analysis of human lifetime reproductive effort. Human reproduction and offspring care are distinct from other species because alloparental behaviour is defined culturally rather than by genetic kinship alone. This system allows local flexibility in provisioning strategies and ensures that care and resources often flow between unrelated individuals. This review proposes the term "biocultural reproduction" to describe this unique human reproductive system. In a re-analysis of human life history data, it is estimated that the intense alloparenting typical of human societies lowers the lifetime reproductive effort of individual women by 14-29% compared to expectations based upon other mammals. Humans are not cooperative breeders as classically defined; one effect of the unique strategy of human biocultural reproduction is a lowering of human lifetime reproductive effort, which could help explain lifespan extension.

  5. Family-based analysis using a dense single-nucleotide polymorphism-based map defines genetic variation at PSORS1, the major psoriasis-susceptibility locus.

    Science.gov (United States)

    Veal, Colin D; Capon, Francesca; Allen, Michael H; Heath, Emma K; Evans, Julie C; Jones, Andrew; Patel, Shanta; Burden, David; Tillman, David; Barker, Jonathan N W N; Trembath, Richard C

    2002-09-01

    Psoriasis is a common skin disorder of multifactorial origin. Genomewide scans for disease susceptibility have repeatedly demonstrated the existence of a major locus, PSORS1 (psoriasis susceptibility 1), contained within the major histocompatibility complex (MHC), on chromosome 6p21. Subsequent refinement studies have highlighted linkage disequilibrium (LD) with psoriasis, along a 150-kb segment that includes at least three candidate genes (encoding human leukocyte antigen-C [HLA-C], alpha-helix-coiled-coil-rod homologue, and corneodesmosin), each of which has been shown to harbor disease-associated alleles. However, the boundaries of the minimal PSORS1 region remain poorly defined. Moreover, interpretations of allelic association with psoriasis are compounded by limited insight of LD conservation within MHC class I interval. To address these issues, we have pursued a high-resolution genetic characterization of the PSORS1 locus. We resequenced genomic segments along a 220-kb region at chromosome 6p21 and identified a total of 119 high-frequency SNPs. Using 59 SNPs (18 coding and 41 noncoding SNPs) whose position was representative of the overall marker distribution, we genotyped a data set of 171 independently ascertained parent-affected offspring trios. Family-based association analysis of this cohort highlighted two SNPs (n.7 and n.9) respectively lying 7 and 4 kb proximal to HLA-C. These markers generated highly significant evidence of disease association (Prisk haplotype. These data demonstrate the power of SNP haplotype-based association analyses and provide high-resolution dissection of genetic variation across the PSORS1 interval, the major susceptibility locus for psoriasis.

  6. Serum vaspin concentrations are closely related to insulin resistance, and rs77060950 at SERPINA12 genetically defines distinct group with higher serum levels in Japanese population.

    Science.gov (United States)

    Teshigawara, Sanae; Wada, Jun; Hida, Kazuyuki; Nakatsuka, Atsuko; Eguchi, Jun; Murakami, Kazutoshi; Kanzaki, Motoko; Inoue, Kentaro; Terami, Takahiro; Katayama, Akihiro; Iseda, Izumi; Matsushita, Yuichi; Miyatake, Nobuyuki; McDonald, John F; Hotta, Kikuko; Makino, Hirofumi

    2012-07-01

    Vaspin is an adipokine with insulin-sensitizing effects identified from visceral adipose tissues of genetically obese rats. We investigated genetic and nongenetic factors that define serum concentrations of vaspin. Vaspin levels were measured with RIA in Japanese subjects with normal fasting plasma glucose (NFG; n = 259) and type 2 diabetes patients (T2D; n = 275). Single nucleotide polymorphisms (SNP) at SERPINA12 (vaspin) gene locus were discovered, and five SNP were genotyped in the subjects with varied body mass index (n = 1138). The level of serum vaspin in 93% of the samples was found to vary from 0.2 to nearly 2 ng/ml in NFG subjects (n = 259) and from 0.2 to nearly 3 ng/ml in T2D patients (n = 275) (Vaspin(Low) group), whereas a significant subpopulation (7%) in both groups displayed much higher levels of 10-40 ng/ml (Vaspin(High) group). In the Vaspin(Low) group, serum vaspin levels in T2D were significantly higher than healthy subjects (0.99 ± 0.04 vs. 0.86 ± 0.02 ng/ml; P population, serum vaspin levels closely correlated with homeostasis model of assessment for insulin resistance rather than anthropometric parameters. By genotyping, rs77060950 tightly linked to serum vaspin levels, i.e. CC (0.6 ± 0.4 ng/ml), CA (18.4 ± 9.6 ng/ml), and AA (30.5 ± 5.1 ng/ml) (P population are closely linked to minor allele sequence (A) of rs77060950.

  7. Differences in the genetic control of early egg development and reproduction between C. elegans and its parthenogenetic relative D. coronatus

    Directory of Open Access Journals (Sweden)

    Christopher Kraus

    2017-10-01

    Full Text Available Abstract Background The free-living nematode Diploscapter coronatus is the closest known relative of Caenorhabditis elegans with parthenogenetic reproduction. It shows several developmental idiosyncracies, for example concerning the mode of reproduction, embryonic axis formation and early cleavage pattern (Lahl et al. in Int J Dev Biol 50:393–397, 2006. Our recent genome analysis (Hiraki et al. in BMC Genomics 18:478, 2017 provides a solid foundation to better understand the molecular basis of developmental idiosyncrasies in this species in an evolutionary context by comparison with selected other nematodes. Our genomic data also yielded indications for the view that D. coronatus is a product of interspecies hybridization. Results In a genomic comparison between D. coronatus, C. elegans, other representatives of the genus Caenorhabditis and the more distantly related Pristionchus pacificus and Panagrellus redivivus, certain genes required for central developmental processes in C. elegans like control of meiosis and establishment of embryonic polarity were found to be restricted to the genus Caenorhabditis. The mRNA content of early D. coronatus embryos was sequenced and compared with similar stages in C. elegans and Ascaris suum. We identified 350 gene families transcribed in the early embryo of D. coronatus but not in the other two nematodes. Looking at individual genes transcribed early in D. coronatus but not in C. elegans and A. suum, we found that orthologs of most of these are present in the genomes of the latter species as well, suggesting heterochronic shifts with respect to expression behavior. Considerable genomic heterozygosity and allelic divergence lend further support to the view that D. coronatus may be the result of an interspecies hybridization. Expression analysis of early acting single-copy genes yields no indication for silencing of one parental genome. Conclusions Our comparative cellular and molecular studies support the

  8. Shift work and circadian dysregulation of reproduction

    Directory of Open Access Journals (Sweden)

    Karen L. Gamble

    2013-08-01

    Full Text Available Health impairments, including reproductive issues, are associated with working nights or rotating shifts. For example, shift work has been associated with an increased risk of irregular menstrual cycles, endometriosis, infertility, miscarriage, low birth weight or pre-term delivery, and reduced incidence of breastfeeding. Based on what is known about circadian regulation of endocrine rhythms in rodents (and much less in humans, the circadian clock is an integral regulatory part of the reproductive system. When this 24-h program is disordered by environmental perturbation (such as shift work or genetic alterations, the endocrine system can be impaired. The purpose of this review is to explore the hypothesis that misalignment of reproductive hormones with the environmental light-dark cycle and/or sleep wake rhythms can disrupt menstrual cycles, pregnancy, and parturition. We highlight the role of the circadian clock in regulating human reproductive physiology and shift work-induced pathology within each step of the reproductive axis while exploring potential mechanisms from the animal model literature. In addition to documenting the reproductive hazards of shift work, we also point out important gaps in our knowledge as critical areas for future investigation. For example, future studies should examine whether forced desynchronization disrupts gonadotropin secretion rhythms and whether there are sleep/wake schedules that are better or worse for the adaptation of the reproductive system to shift work. These studies are necessary in order to define not only whether or not shift-work induced circadian misalignment impairs reproductive capacity, but also to identify strategies for the future that can minimize this desynchronization.

  9. [Population-genetic structure of beaver (Castor fiber L., 1758) communities and estimation of effective reproductive size Ne of an elementary population].

    Science.gov (United States)

    2004-07-01

    The absence of panmixia at all hierarchical levels of the European beaver communities down to individual families implies a complex organization of the population-genetic structures of the species, in particular, a large intergroup component of gene diversity in the populations. Testing this assumption by analysis of 39 allozyme loci in the communities of reintroduced beaver from the Vyatka river basin (Kirov oblast) has shown that only the beaver colonies exhibit high intergroup gene diversity (Gst = 0.32) whereas this parameter is much lower when estimated among beaver groups from individual Vyatka River tributaries and among localities of one of the tributaries (0.07 and 0.11, respectively). The data suggesting genetic heterogeneity among individual settles within colonies have been obtained. The factors affecting the structure of the beaver communities of the lower hierarchical ranks are considered: the common origin, founder effect, selection, gene drift, assortative mating, and social and behavior features of the species. The conclusion is drawn that the founder effect could be the primary factor of population differentiation only at the time of their formation. The heterogeneity among colonies and among settles is maintained largely by isolation of colonies from one another. The strong interspecific competition for food resources, which is behaviorally implemented in the species at the level of minimal structural units (individual settles) creates a profound and unique population-genetic subdivision of the species. These results substantiate the suggestion that an elementary population (micropopulation) of European beaver is a colony, i.e., a set of related settles of different types. Based on ecological and genetic parameters, the effective reproductive size Ne of the minimum beaver population was estimated to be equal to three animals. This extremely low value of effective reproductive population size largely explains the high tolerance of European beaver

  10. Comparative genetics: a lens through which to clarify the genomes, the transmission history, and the reproductive biology of Trichinella spp.

    Science.gov (United States)

    Progress in studying the biology of Trichinella spp. was greatly advanced with the publication and analysis of the draft genome sequence of T. spiralis. Those data provide a basis for constructing testable hypothesis concerning parasite physiology, immunology, and genetics. They also provide tools...

  11. Genetics of growth and reproduction in the turkey. 9. Long-term selection for increased 16-week body weight.

    Science.gov (United States)

    Nestor, K E

    1984-11-01

    Sixteen generations of selection of turkeys for increased 16-week body weight alone resulted in a large increase in body weight at 8, 16, 20, and 24 weeks of age of both males and females and at sexual maturity for females. The realized heritability for 16-week body weight was .29 +/- .02 for males and .24 +/- .01 for females. There was no significant effect on egg production during the first three generations of selection. However, egg production of the growth strain relative to the corresponding randombred control declined greatly during the next two generations. Eleven further generations of selection did not result in additional declines in egg production. These results suggest that the genetic correlation between 16-week body weight and egg production was zero initially, became strongly negative for Generations 4 and 5, and then ultimately returned to zero. Genetic increases in body weight were associated with decreases in intensity of lay with no effect on broodiness. Based on a subjective rating of deviation of legs and ability to walk, the legs of the growth strain were poorer than those of its corresponding randombred control in the last four generations of selection. This indicates that there is a positive genetic correlation between 16-week body weight and frequency of leg problems. Genetic increases in 16-week body weight were accompanied by increases in egg weight and a decrease in rate of response to stimulatory lighting. The effect on fertility was inconsistent. There was no effect on hatch of fertile eggs.

  12. Genetics of growth and reproduction in the turkey. 14. Changes in genetic parameters over thirty generations of selection for increased body weight.

    Science.gov (United States)

    Nestor, K E; Anderson, J W; Patterson, R A

    2000-04-01

    A line (F) of turkeys was selected over 30 generations for increased 16-wk BW. The base population for the F line was a randombred control population (RBC2) that was maintained without conscious selection and used to remove yearly environmental variation in the F line. Selection was effective in increasing 16-wk BW in the F line. Selection differentials based on the mean of selected parents minus mean of entire population (intended) and intended selection differentials weighted for number of offspring produced (actual) did not consistently differ, indicating that natural selection was not significantly opposing artificial selection. The realized heritability (h2) of 16-wk BW in the F line, based on the linear regression of the selection response on accumulated actual selection differentials, declined with selection; the decline appeared to be slightly different for males than females. For both sexes combined, the realized h2 was 0.309+/-0.022 (SE), 0.268+/-0.033, 0.242+/-0.026, and 0.254+/-0.007, respectively, for Generations 1 to 10, 11 to 20, 21 to 30, and 1 to 30. Genetic increases in 16-wk BW in the F line were positively associated with BW at other ages (8, 20, and 24 wk of age and at 50% production), days from stimulatory lighting to production of the first egg, and egg weight. Genetic increases were negatively associated with egg production, intensity of lay (maximum and average clutch length and rate of lay), and hatch of fertile eggs. There was no significant relationship between 16-wk BW and total days lost from broodiness or fertility. The genetic changes in some correlated traits were not consistent in all generation intervals studied, indicating that the genetic correlation between the selected trait (16 wk BW) and the correlated trait changed with selection.

  13. Testing for biases in selection on avian reproductive traits and partitioning direct and indirect selection using quantitative genetic models.

    Science.gov (United States)

    Reed, Thomas E; Gienapp, Phillip; Visser, Marcel E

    2016-10-01

    Key life history traits such as breeding time and clutch size are frequently both heritable and under directional selection, yet many studies fail to document microevolutionary responses. One general explanation is that selection estimates are biased by the omission of correlated traits that have causal effects on fitness, but few valid tests of this exist. Here, we show, using a quantitative genetic framework and six decades of life-history data on two free-living populations of great tits Parus major, that selection estimates for egg-laying date and clutch size are relatively unbiased. Predicted responses to selection based on the Robertson-Price Identity were similar to those based on the multivariate breeder's equation (MVBE), indicating that unmeasured covarying traits were not missing from the analysis. Changing patterns of phenotypic selection on these traits (for laying date, linked to climate change) therefore reflect changing selection on breeding values, and genetic constraints appear not to limit their independent evolution. Quantitative genetic analysis of correlational data from pedigreed populations can be a valuable complement to experimental approaches to help identify whether apparent associations between traits and fitness are biased by missing traits, and to parse the roles of direct versus indirect selection across a range of environments. © 2016 The Author(s). Evolution © 2016 The Society for the Study of Evolution.

  14. The more the better - polyandry and genetic similarity are positively linked to reproductive success in a natural population of terrestrial salamanders (Salamandra salamandra).

    Science.gov (United States)

    Caspers, Barbara A; Krause, E Tobias; Hendrix, Ralf; Kopp, Michael; Rupp, Oliver; Rosentreter, Katrin; Steinfartz, Sebastian

    2014-01-01

    Although classically thought to be rare, female polyandry is widespread and may entail significant fitness benefits. If females store sperm over extended periods of time, the consequences of polyandry will depend on the pattern of sperm storage, and some of the potential benefits of polyandry can only be realized if sperm from different males is mixed. Our study aimed to determine patterns and consequences of polyandry in an amphibian species, the fire salamander, under fully natural conditions. Fire salamanders are ideal study objects, because mating, fertilization and larval deposition are temporally decoupled, females store sperm for several months, and larvae are deposited in the order of fertilization. Based on 18 microsatellite loci, we conducted paternity analysis of 24 female-offspring arrays with, in total, over 600 larvae fertilized under complete natural conditions. More than one-third of females were polyandrous and up to four males were found as sires. Our data clearly show that sperm from multiple males is mixed in the female's spermatheca. Nevertheless, paternity is biased, and the most successful male sires on average 70% of the larvae, suggesting a 'topping off' mechanism with first-male precedence. Female reproductive success increased with the number of sires, most probably because multiple mating ensured high fertilization success. In contrast, offspring number was unaffected by female condition and genetic characteristics, but surprisingly, it increased with the degree of genetic relatedness between females and their sires. Sires of polyandrous females tended to be genetically similar to each other, indicating a role for active female choice. © 2013 John Wiley & Sons Ltd.

  15. Pollen gene flow, male reproductive success, and genetic correlations among offspring in a northern red oak (Quercus rubra L.) seed orchard.

    Science.gov (United States)

    Alexander, Lisa; Woeste, Keith

    2017-01-01

    Northern red oak is a high-value hardwood used for lumber, furniture and veneer. Intensively managed northern red oak seed orchards are required to obtain genetic gain for trait improvement. Data from conifer seed orchards and natural and managed stands of hardwood trees have shed light on the distance over which pollen can move, and underscore the need for managerial attention to seed orchard design, placement, and maintenance. We used eleven microsatellite markers to investigate pollen gene flow, female mate choice, and male reproductive success in a clonal seed orchard of northern red oak based on paternity analysis of seed orchard offspring in progeny tests. Nearly all (93%) offspring were sired by a male parent within the seed orchard. The mean number of male parents per year was 69.5, or 47.6% of all clones in the seed orchard. Female clones in the early phenology group had more offspring sired from extra-orchard pollen (13%) than clones in the intermediate (5%) and late (1%) phenology groups. Distance was the largest influence on pollination success, and pollination occurred most often by male trees in the same subline as the maternal tree. Males in the early phenology group sired more offspring overall in the progeny pool and more offspring per mother tree than males in the intermediate or late phenology groups. Average genetic correlations among all OP progeny ranged between 0.2557 and 0.3529 with a mean of 0.28±0.01. The importance of progeny test genotyping for northern red oak improvement likely is increasing with the demand for improved varieties. The current study demonstrated the feasibility of post hoc assembly of full-sib families for genetic analysis.

  16. Pollen gene flow, male reproductive success, and genetic correlations among offspring in a northern red oak (Quercus rubra L. seed orchard.

    Directory of Open Access Journals (Sweden)

    Lisa Alexander

    Full Text Available Northern red oak is a high-value hardwood used for lumber, furniture and veneer. Intensively managed northern red oak seed orchards are required to obtain genetic gain for trait improvement. Data from conifer seed orchards and natural and managed stands of hardwood trees have shed light on the distance over which pollen can move, and underscore the need for managerial attention to seed orchard design, placement, and maintenance. We used eleven microsatellite markers to investigate pollen gene flow, female mate choice, and male reproductive success in a clonal seed orchard of northern red oak based on paternity analysis of seed orchard offspring in progeny tests. Nearly all (93% offspring were sired by a male parent within the seed orchard. The mean number of male parents per year was 69.5, or 47.6% of all clones in the seed orchard. Female clones in the early phenology group had more offspring sired from extra-orchard pollen (13% than clones in the intermediate (5% and late (1% phenology groups. Distance was the largest influence on pollination success, and pollination occurred most often by male trees in the same subline as the maternal tree. Males in the early phenology group sired more offspring overall in the progeny pool and more offspring per mother tree than males in the intermediate or late phenology groups. Average genetic correlations among all OP progeny ranged between 0.2557 and 0.3529 with a mean of 0.28±0.01. The importance of progeny test genotyping for northern red oak improvement likely is increasing with the demand for improved varieties. The current study demonstrated the feasibility of post hoc assembly of full-sib families for genetic analysis.

  17. The influence of genetic increases in shank width on body weight, walking ability, and reproduction of turkeys.

    Science.gov (United States)

    Nestor, K E; Bacon, W L; Saif, Y M; Renner, P A

    1985-12-01

    Body weight and breast width have been greatly increased in the modern turkey. However, the relative amounts of leg muscles and leg bones have declined. A similar decline also occurs with age. It was theorized that this is an inherent weakness that magnifies other causes of leg problems. In an attempt to increase the relative amount of leg bone, a subline (FL) was developed by mass selection for increased shank width at 16 weeks of age from a long-term growth-selected line of turkeys (F). Shank width of FL was increased greatly by selection. The realized heritability of shank width, based on the regression of accumulated selection response on accumulated selection differential, was .33 +/- .05 over five generations of selection. Body weight of males from FL increased at a rate comparable to that of F at 16 weeks of age. However, there was no comparable improvement in body weight of FL females, resulting in a significant line X sex interaction. A similar interaction was observed for body weight at 8 and 20 weeks of age in these lines. The genetic increases in shank width in FL resulted in significantly improved walking ability of males at 16 weeks of age in comparison to F, even though body weight of males from the two lines was similar. The walking ability of FL did not change relative to the control line from which F originated. Thus, large genetic increases in body weight of males can be achieved without loss in walking ability by genetic increases in shank width.(ABSTRACT TRUNCATED AT 250 WORDS)

  18. Genetics of growth and reproduction in the turkey. 15. Effect of long-term selection for increased egg production on the genetics of growth and egg production traits.

    Science.gov (United States)

    Emmerson, D A; Velleman, S G; Nestor, K E

    2002-03-01

    A line (E) of turkeys selected long-term (37 generations) for increased egg production was reciprocally crossed with its randombred control population (RBC1) that served as the base population of the E line to study the influence of long-term selection on the development of nonadditive genetic variation for egg production and body weight traits. Heterosis was significant for BW at 8, 16, and 20 wk of age and at 50% production (females only). At 16 and 20 wk of age, heterosis for BW was significant only for male offspring. No heterosis was observed in the reciprocal crosses for egg production when measured for 84, 180, or 250 d. Heterosis was significant for rate of response to stimulatory lighting of 14 h light per day (days from stimulatory lighting to production of first egg). Based on data for a 250-d production period, heterosis was observed in average clutch length but not in total days lost from broodiness or the effective length of the laying period (250-d lost in periods of 5 or more consecutive d at the end of the laying period). The present results suggest that long-term selection for increased egg production and the correlated decrease in BW increased the relative nonadditive genetic variation in BW. Reciprocal effects were significant for BW at 8 and 16 wk of age, probably due to a large difference in egg weight between the E and RBC1 lines.

  19. The morality of assisted reproduction and genetic manipulation A moralidade da reprodução assistida e da manipulação genética

    Directory of Open Access Journals (Sweden)

    Maurizio Mori

    1999-01-01

    Full Text Available The author analyzes the pros and cons of various forms of assisted reproduction, including the use of so-called 'genetic manipulation'. He shows how in ethics the only arguments with any chance of reaching a consensus (or at least an agreement are those of the rational type, based on universally acceptable ethical principles or corroborated by empirical facts and real life experience (as the starting point for identifying problems requiring analysis. After an analysis in which he identifies the incoherence and inconsistency of arguments against assisted reproduction, the author defends the right of human beings to decide autonomously about the most healthy forms of procreation, including those involving genetic manipulation. His starting point is the moral principle by which it is morally preferable to intervene in natural processes (as opposed to not intervening whenever this implies preventing and reducing disease and sufferingO autor se propõe a analisar os argumentos pró e contra as várias formas de reprodução assistida, inclusive aquela dependente da assim chamada manipulação genética. Mostra como os únicos argumentos com chance de chegar ao consenso, ou, pelo menos, a um acordo, sejam os argumentos racionais, embasados em princípios éticos (universalmente aceitáveis, ou corroborados por fatos empíricos e experiências de vida (como ponto de partida para identificar os problemas que requerem análise. Após uma parte desconstrutiva, na qual aponta a incoerência e a inconsistência dos argumentos contrários, o autor defende o direito dos humanos em decidir autonomamente acerca das formas mais saudáveis de procriação, inclusive aquelas que envolvem manipulações genéticas. Para tanto, baseia-se no princípio moral segundo o qual é moralmente preferível interferir nos processos naturais que não intervir quando isso implica prevenir e reduzir doenças e sofrimento.

  20. Genetics

    Science.gov (United States)

    ... Heterozygous; Inheritance patterns; Heredity and disease; Heritable; Genetic markers ... mother and medications). These include: Asthma Cancer Coronary heart disease Diabetes Hypertension Stroke MITOCHONDRIAL DNA-LINKED DISORDERS Mitochondria ...

  1. [Assisted reproduction and artificial insemination and genetic manipulation in the Criminal Code of the Federal District, Mexico].

    Science.gov (United States)

    Brena Sesma, Ingrid

    2004-01-01

    The article that one presents has for purpose outline and comment on the recent modifications to the Penal Code for the Federal District of México which establish, for the first time, crimes related to the artificial procreation and to the genetic manipulation. Also one refers to the interaction of the new legal texts with the sanitary legislation of the country. Since it will be stated in some cases they present confrontations between the penal and the sanitary reglamentation and some points related to the legality or unlawfulness of a conduct that stayed without the enough development. These lacks will complicate the application of the new rules of the Penal Code of the Federal District.

  2. Define Project

    DEFF Research Database (Denmark)

    Munk-Madsen, Andreas

    2005-01-01

    "Project" is a key concept in IS management. The word is frequently used in textbooks and standards. Yet we seldom find a precise definition of the concept. This paper discusses how to define the concept of a project. The proposed definition covers both heavily formalized projects and informally...... organized, agile projects. Based on the proposed definition popular existing definitions are discussed....

  3. [The impact of components of conventional and genetically modified soybeans on parameters of the immune and reproductive systems in female rats].

    Science.gov (United States)

    Dolaĭchuk, O P; Fedoruk, R S; Koval'chuk, I I

    2013-01-01

    The article presents results of research of the content of glycoproteins and their specific carbohydrate components, total protein, hemoglobin, erythrocyte, leucocytes molecules of average mass and circulating immune complexes in the blood of female rats under conditions feeding of conventional and transgenic soybeans. Also the reproductive function and mass coefficient of fetus of the studied animals was analyzed. The studies were conducted in three groups of female rats aged 3 months. Animals of I group (control) were kept on a balanced diet during the study period. Animals of groups II and III (research) received a diet according to the scheme of the control group with the addition of 30% from the nutritional value diet native or transgenic soybean, respectively. We found that soy feeding had no significant effect on hematological data in the second and third experimental groups versus control. However, addition to the diet of soybeans, including genetically modified, has a significant impact on the content of glycoproteins and their specific carbohydrate components, female's fertility and less pronounced impact on the data of functional status of their immune system. A generalized analysis of the results of research leads to the conclusion that there is no definite negative or positive impact of GM soy components on their physiological state compared with animals fed native soybeans.

  4. Modifications to the Patient Rule-Induction Method that utilize non-additive combinations of genetic and environmental effects to define partitions that predict ischemic heart disease

    DEFF Research Database (Denmark)

    Dyson, Greg; Frikke-Schmidt, Ruth; Nordestgaard, Børge G

    2009-01-01

    This article extends the Patient Rule-Induction Method (PRIM) for modeling cumulative incidence of disease developed by Dyson et al. (Genet Epidemiol 31:515-527) to include the simultaneous consideration of non-additive combinations of predictor variables, a significance test of each combination...... that assesses the utility of genetic variants in predicting the presence of ischemic heart disease beyond the established risk factors....

  5. Defining Cyberbullying.

    Science.gov (United States)

    Englander, Elizabeth; Donnerstein, Edward; Kowalski, Robin; Lin, Carolyn A; Parti, Katalin

    2017-11-01

    Is cyberbullying essentially the same as bullying, or is it a qualitatively different activity? The lack of a consensual, nuanced definition has limited the field's ability to examine these issues. Evidence suggests that being a perpetrator of one is related to being a perpetrator of the other; furthermore, strong relationships can also be noted between being a victim of either type of attack. It also seems that both types of social cruelty have a psychological impact, although the effects of being cyberbullied may be worse than those of being bullied in a traditional sense (evidence here is by no means definitive). A complicating factor is that the 3 characteristics that define bullying (intent, repetition, and power imbalance) do not always translate well into digital behaviors. Qualities specific to digital environments often render cyberbullying and bullying different in circumstances, motivations, and outcomes. To make significant progress in addressing cyberbullying, certain key research questions need to be addressed. These are as follows: How can we define, distinguish between, and understand the nature of cyberbullying and other forms of digital conflict and cruelty, including online harassment and sexual harassment? Once we have a functional taxonomy of the different types of digital cruelty, what are the short- and long-term effects of exposure to or participation in these social behaviors? What are the idiosyncratic characteristics of digital communication that users can be taught? Finally, how can we apply this information to develop and evaluate effective prevention programs? Copyright © 2017 by the American Academy of Pediatrics.

  6. Direct genetic evidence for reproductive philopatry and associated fine-scale migrations in female blacktip reef sharks (Carcharhinus melanopterus) in French Polynesia.

    Science.gov (United States)

    Mourier, Johann; Planes, Serge

    2013-01-01

    Conservation of top predators has been emphasized as essential in an ecosystem due to their role in trophic chain regulation. Optimizing conservation strategies for these endangered marine top predators requires direct estimates of breeding patterns and connectivity as these are essential to understanding the population dynamics. There have been some attempts to investigate breeding patterns of reef sharks from litter reconstruction using molecular analyses. However, direct fine-scale migrations of female sharks for parturition as well as connectivity at a medium scale like between islands remain mostly unknown. We used microsatellite DNA markers and a likelihood-based parentage analysis to determine breeding patterns of female blacktip reef sharks in Moorea (Society Islands, French Polynesia). Most females gave birth at their home island but some migrated to specific nursery areas outside the area they are attached to, sometimes going to another island 50 km away across deep ocean. Our analysis also revealed that females migrated to the same nursery for every birthing event. Many offspring showed a high level of inbreeding indicating an overall reduced population size, restricted movements and dispersal, or specific mating behaviour. Females represent the vectors that transport the genes at nursery grounds, and their fidelity should thus define reproductive units. As females seem to be philopatric, males could be the ones dispersing genes between populations. These results highlight the need to conserve coastal zones where female reef sharks seem to exhibit philopatry during the breeding season. © 2012 Blackwell Publishing Ltd.

  7. Genome constraint through sexual reproduction: application of 4D-Genomics in reproductive biology.

    Science.gov (United States)

    Horne, Steven D; Abdallah, Batoul Y; Stevens, Joshua B; Liu, Guo; Ye, Karen J; Bremer, Steven W; Heng, Henry H Q

    2013-06-01

    Assisted reproductive technologies have been used to achieve pregnancies since the first successful test tube baby was born in 1978. Infertile couples are at an increased risk for multiple miscarriages and the application of current protocols are associated with high first-trimester miscarriage rates. Among the contributing factors of these higher rates is a high incidence of fetal aneuploidy. Numerous studies support that protocols including ovulation-induction, sperm cryostorage, density-gradient centrifugation, and embryo culture can induce genome instability, but the general mechanism is less clear. Application of the genome theory and 4D-Genomics recently led to the establishment of a new paradigm for sexual reproduction; sex primarily constrains genome integrity that defines the biological system rather than just providing genetic diversity at the gene level. We therefore propose that application of assisted reproductive technologies can bypass this sexual reproduction filter as well as potentially induce additional system instability. We have previously demonstrated that a single-cell resolution genomic approach, such as spectral karyotyping to trace stochastic genome level alterations, is effective for pre- and post-natal analysis. We propose that monitoring overall genome alteration at the karyotype level alongside the application of assisted reproductive technologies will improve the efficacy of the techniques while limiting stress-induced genome instability. The development of more single-cell based cytogenomic technologies are needed in order to better understand the system dynamics associated with infertility and the potential impact that assisted reproductive technologies have on genome instability. Importantly, this approach will be useful in studying the potential for diseases to arise as a result of bypassing the filter of sexual reproduction.

  8. Ultra-High Density, Transcript-Based Genetic Maps of Pepper Define Recombination in the Genome and Synteny Among Related Species.

    Science.gov (United States)

    Hill, Theresa; Ashrafi, Hamid; Chin-Wo, Sebastian Reyes; Stoffel, Kevin; Truco, Maria-Jose; Kozik, Alexander; Michelmore, Richard; Van Deynze, Allen

    2015-09-08

    Our ability to assemble complex genomes and construct ultradense genetic maps now allows the determination of recombination rates, translocations, and the extent of genomic collinearity between populations, species, and genera. We developed two ultradense genetic linkage maps for pepper from single-position polymorphisms (SPPs) identified de novo with a 30,173 unigene pepper genotyping array. The Capsicum frutescens × C. annuum interspecific and the C. annuum intraspecific genetic maps were constructed comprising 16,167 and 3,878 unigene markers in 2108 and 783 genetic bins, respectively. Accuracies of marker groupings and orders are validated by the high degree of collinearity between the two maps. Marker density was sufficient to locate the chromosomal breakpoint resulting in the P1/P8 translocation between C. frutescens and C. annuum to a single bin. The two maps aligned to the pepper genome showed varying marker density along the chromosomes. There were extensive chromosomal regions with suppressed recombination and reduced intraspecific marker density. These regions corresponded to the pronounced nonrecombining pericentromeric regions in tomato, a related Solanaceous species. Similar to tomato, the extent of reduced recombination appears to be more pronounced in pepper than in other plant species. Alignment of maps with the tomato and potato genomes shows the presence of previously known translocations and a translocation event that was not observed in previous genetic maps of pepper. Copyright © 2015 Hill et al.

  9. Stress and its influence on reproduction in pigs: a review

    Directory of Open Access Journals (Sweden)

    Madej Andrzej

    2008-12-01

    Full Text Available Abstract The manifestations of stress, defined as a biological response to an event that the individual perceives as a threat to its homeostasis, are commonly linked to enhanced activity of the hypothalamo-pituitary-adrenal (HPA axis and the activation of the sympathetic adreno-medullary (SA system. Activation of the HPA system results in the secretion of peptides from the hypothalamus, principally corticotropin releasing hormone (CRH, which stimulates the release of adrenocorticotropic hormone (ACTH and beta-endorphin. ACTH induces the secretion of corticosteroids from the adrenal cortex, which can be seen in pigs exposed to acute physical and/or psychological stressors. The present paper is a review of studies on the influence of stressors on reproduction in pigs. The effects of stress on reproduction depend on the critical timing of stress, the genetic predisposition to stress, and the type of stress. The effect of stress on reproduction is also influenced by the duration of the responses induced by various stressors. Prolonged or chronic stress usually results in inhibition of reproduction, while the effects of transient or acute stress in certain cases is stimulatory (e.g. anoestrus, but in most cases is of impairment for reproduction. Most sensitive of the reproductive process are ovulation, expression of sexual behaviour and implantation of the embryo, since they are directly controlled by the neuroendocrine system.

  10. Stress and its influence on reproduction in pigs: a review.

    Science.gov (United States)

    Einarsson, Stig; Brandt, Ylva; Lundeheim, Nils; Madej, Andrzej

    2008-12-10

    The manifestations of stress, defined as a biological response to an event that the individual perceives as a threat to its homeostasis, are commonly linked to enhanced activity of the hypothalamo-pituitary-adrenal (HPA) axis and the activation of the sympathetic adreno-medullary (SA) system. Activation of the HPA system results in the secretion of peptides from the hypothalamus, principally corticotropin releasing hormone (CRH), which stimulates the release of adrenocorticotropic hormone (ACTH) and beta-endorphin. ACTH induces the secretion of corticosteroids from the adrenal cortex, which can be seen in pigs exposed to acute physical and/or psychological stressors. The present paper is a review of studies on the influence of stressors on reproduction in pigs. The effects of stress on reproduction depend on the critical timing of stress, the genetic predisposition to stress, and the type of stress. The effect of stress on reproduction is also influenced by the duration of the responses induced by various stressors. Prolonged or chronic stress usually results in inhibition of reproduction, while the effects of transient or acute stress in certain cases is stimulatory (e.g. anoestrus), but in most cases is of impairment for reproduction. Most sensitive of the reproductive process are ovulation, expression of sexual behaviour and implantation of the embryo, since they are directly controlled by the neuroendocrine system.

  11. Stress and its influence on reproduction in pigs: a review

    Science.gov (United States)

    Einarsson, Stig; Brandt, Ylva; Lundeheim, Nils; Madej, Andrzej

    2008-01-01

    The manifestations of stress, defined as a biological response to an event that the individual perceives as a threat to its homeostasis, are commonly linked to enhanced activity of the hypothalamo-pituitary-adrenal (HPA) axis and the activation of the sympathetic adreno-medullary (SA) system. Activation of the HPA system results in the secretion of peptides from the hypothalamus, principally corticotropin releasing hormone (CRH), which stimulates the release of adrenocorticotropic hormone (ACTH) and beta-endorphin. ACTH induces the secretion of corticosteroids from the adrenal cortex, which can be seen in pigs exposed to acute physical and/or psychological stressors. The present paper is a review of studies on the influence of stressors on reproduction in pigs. The effects of stress on reproduction depend on the critical timing of stress, the genetic predisposition to stress, and the type of stress. The effect of stress on reproduction is also influenced by the duration of the responses induced by various stressors. Prolonged or chronic stress usually results in inhibition of reproduction, while the effects of transient or acute stress in certain cases is stimulatory (e.g. anoestrus), but in most cases is of impairment for reproduction. Most sensitive of the reproductive process are ovulation, expression of sexual behaviour and implantation of the embryo, since they are directly controlled by the neuroendocrine system. PMID:19077201

  12. Promoting Self-Directed Learning in Developing or Poorly Defined Subject Areas: A Problem-Based Course in Molecular Biology, Genetics, and Cancer.

    Science.gov (United States)

    Edmondson, Katherine M.

    A new problem-based course in molecular biology, genetics, and cancer for first-year veterinary students was developed at the College of Veterinary Medicine at Cornell University (New York). The course was developed out of a desire to foster student-centered and lifelong learning and to integrate basic and clinical science knowledge despite a lack…

  13. Genetics

    DEFF Research Database (Denmark)

    Christensen, Kaare; McGue, Matt

    2016-01-01

    The sequenced genomes of individuals aged ≥80 years, who were highly educated, self-referred volunteers and with no self-reported chronic diseases were compared to young controls. In these data, healthy ageing is a distinct phenotype from exceptional longevity and genetic factors that protect...

  14. Are male reproductive disorders a common entity?

    DEFF Research Database (Denmark)

    Boisen, K A; Main, K M; Rajpert-De Meyts, E

    2001-01-01

    Growing evidence from clinical and epidemiological studies points to a synchronized increase in the incidence of male reproductive problems, such as genital abnormalities, testicular cancer, reduced semen quality, and subfertility. Together these male reproductive problems may reflect the existence...... affecting genetically susceptible individuals. We recommend that future epidemiological studies on trends in male reproduction do not focus on one symptom only, but take all aspects of TDS into account. The potential impact of adverse environmental factors and the role of genetic polymorphisms involved...

  15. Primer in Genetics and Genomics, Article 5-Further Defining the Concepts of Genotype and Phenotype and Exploring Genotype-Phenotype Associations.

    Science.gov (United States)

    Wright, Fay; Fessele, Kristen

    2017-10-01

    As nurses begin to incorporate genetic and genomic sciences into clinical practice, education, and research, it is essential that they have a working knowledge of the terms foundational to the science. The first article in this primer series provided brief definitions of the basic terms (e.g., genetics and genomics) and introduced the concept of phenotype during the discussion of Mendelian inheritance. These terms, however, are inconsistently used in publications and conversations, and the linkage between genotype and phenotype requires clarification. The goal of this fifth article in the series is to elucidate these terms, provide an overview of the research methods used to determine genotype-phenotype associations, and discuss their significance to nursing through examples from the current nursing literature.

  16. Reproductive emergencies.

    Science.gov (United States)

    Jutkowitz, L Ari

    2005-03-01

    The emergency clinician is frequently called on to manage problems relating to the female reproductive tract. Because owners sel-dom have the medical knowledge needed to differentiate normal from abnormal reproductive behaviors, they frequently look to the emergency veterinarian for guidance and information during and after parturition. For this reason, it is essential that the veterinarian have a good understanding of the normal reproductive cycle as well as the common emergencies that may occur. This article reviews the events surrounding normal parturition in the dog and cat and the reproductive emergencies seen most commonly in practice.

  17. Molecular Analysis of the Drosophila Egf Receptor Homolog Reveals That Several Genetically Defined Classes of Alleles Cluster in Subdomains of the Receptor Protein

    OpenAIRE

    Clifford, R.; Schupbach, T.

    1994-01-01

    Mutations in the torpedo gene, which encodes the fruitfly homolog of the epidermal growth factor receptor (DER), disrupt a variety of developmental processes in Drosophila. These include the survival of certain embryonic ectodermal tissues, the proliferation of the imaginal discs, the morphogenesis of several adult ectodermal structures and oogenesis. torpedo is genetically complex: a number of alleles of the gene differentially affect the development of specific tissues, such as the eye, win...

  18. Body mass index bias in defining obesity of diverse young adults: The Training Intervention and Genetics of Exercise Response (TIGER) Study

    Science.gov (United States)

    The BMI cut-score used to define overweight and obesity was derived primarily using data from Caucasian men and women. The present study evaluated the racial/ethnic bias of BMI to estimate the adiposity of young men and women (aged 17–35 years) using dual-energy X-ray absorptiometry (DXA) determinat...

  19. Hood River Steelhead Genetics Study; Relative Reproductive Success of Hatchery and Wild Steelhead in the Hood River, Final Report 2002-2003.

    Energy Technology Data Exchange (ETDEWEB)

    Blouin, Michael

    2003-05-01

    microsatellite-based pedigree analysis, the relative total reproductive success (adult-to-adult production) of hatchery (H{sub old} or H{sub new}) and wild (W) fish for two populations, over multiple brood years. Our analyses of samples from fish that bred in the early to mid 1990's show that fish of 'old' hatchery stocks have much lower total fitness than wild fish (17% to 54% of wild fitness), but that 'new' stocks have fitness that is similar to that of wild fish (ranging from 85% to 108% of wild fitness, depending on parental gender and run year). Therefore, our results show that the decision to phase out the old, out-of-basin stocks and replace them with new, conservation hatchery stocks was well founded. We also conclude that the H{sub new} fish are leaving behind substantial numbers of wild-born offspring. The similar fitnesses of H{sub new} and W fish suggests that wild-born offspring of H{sub new} fish are unlikely to have negative genetic effects on the population when they in turn spawn in the wild. We will test this hypothesis once enough F2 offspring have returned. Another interesting result is that we were unable to match a large fraction of the unclipped, returning fish with parents from their brood year. Furthermore, we were missing more fathers than mothers. Because we sampled almost every possible anadromous parent, these results suggest that nonanadromous trout or precocious parr may be obtaining a substantial number of matings. Substantial reproduction by precocious parr could be one unintended consequence of the hatchery program.

  20. Reproductive Health and Reproductive Vulnerability

    Directory of Open Access Journals (Sweden)

    Bojan Žikić

    2016-03-01

    Full Text Available Reproductive health represents, almost to an equal extent, a socio-cultural and a medical fact. What influences it, both positively and negatively, stems from the ways in which we culturally cognize and act with regard to reproductive behavior. These thoughts and actions are conditioned by a culturally contextualized conceptualization of human physiology which is, in turn, based on the conceptualization of sexuality, and especially, the normativization of gender roles. Therefore, reproductive health is, above all, female health, when viewed as a socio-cultural category, meaning that reproductive vulnerability mostly refers to those factors that negatively influence female reproductive health. These factors are social – they negatively influence reproductive health through the institutional and legally normative aspects, they are economic – they decrease the number of those who, in a certain socio-cultural context, have timely access to quality medical care, and they are cultural – they reinforce modes of thinking and behavior which do not take into consideration the right of every human being to his or her own sexual and reproductive life, but rather insist on conforming individual sexuality and reproductive desires and capacities to the dominant cultural norm.

  1. Altruism and Reproductive Limitations

    Directory of Open Access Journals (Sweden)

    Carey J. Fitzgerald

    2009-04-01

    Full Text Available We examined how different types of reproductive limitations — functional (schizoid personality disorder and schizophrenia, physical (malnutrition, and sexual (bisexuality and homosexuality — influenced altruistic intentions toward hypothetical target individuals of differing degrees of relatedness (r = 0, .25, and .50. Participants were 312 undergraduate students who completed a questionnaire on altruism toward hypothetical friends, half-siblings, and siblings with these different types of reproductive limitations. Genetic relatedness and reproductive limitations did not influence altruistic decision-making when the cost of altruism was low but did as the cost of altruism increased, with participants being more likely to help a sibling over a half-sibling and a half-sibling over a friend. Participants also indicated they were more likely to help a healthy (control person over people with a reproductive limitation. Of the three types of reproductive limitations, functional limitations had the strongest effect on altruistic decision-making, indicating that people were less likely to help those who exhibit abnormal social behavior.

  2. Patterns of reproductive isolation in Mediterranean deceptive orchids.

    Science.gov (United States)

    Scopece, Giovanni; Musacchio, Aldo; Widmer, Alex; Cozzolino, Salvatore

    2007-11-01

    The evolution of reproductive isolation is of central interest in evolutionary biology. In plants, this is typically achieved by a combination of pre- and postpollination mechanisms that prevent, or limit, the amount of interspecific gene flow. Here, we investigated and compared two ecologically defined groups of Mediterranean orchids that differ in pollination biology and pollinator specificity: sexually deceptive orchids versus food-deceptive orchids. We used experimental crosses to assess the strength of postmating prezygotic, and postzygotic reproductive isolation, and a phylogenetic framework to determine their relative rates of evolution. We found quantitative and qualitative differences between the two groups. Food-deceptive orchids have weak premating isolation but strong postmating isolation, whereas the converse situation characterizes sexually deceptive orchids. Only postzygotic reproductive isolation among food-deceptive orchids was found to evolve in a clock-like manner. Comparison of evolutionary rates, within a common interval of genetic distance, showed that the contribution of postmating barriers was more relevant in the food-deceptive species than in the sexually deceptive species. Asymmetry in prezygotic isolation was found among food-deceptive species. Our results indicate that postmating barriers are most important for reproductive isolation in food-deceptive orchids, whereas premating barriers are most important in sexually deceptive orchids. The different rate of evolution of reproductive isolation and the relative strength of pre- and postmating barriers may have implication for speciation processes in the two orchid groups.

  3. Reproductive autonomy: A case study

    Directory of Open Access Journals (Sweden)

    David R Hall

    2016-11-01

    Full Text Available Reproductive autonomy (RA has been challenged by the availability of genetic information, disability and the ethics of selective reproduction. Utilitarian and rights-based approaches, as well as procreative beneficence (PB fail to provide compelling reasons for infringing RA, and may even be likened to dangerous eugenics. Parents are not morally obliged to prevent the birth of a disabled child. Society should rather adopt inclusivity, recognising and providing persons with disabilities opportunities for capability and worthwhile lives.

  4. Controlul materialelor forestiere de reproducere: trasabilitatea genetică, contribuţie la gestionarea durabilă a pădurilor [The control of the forest reproductive material: the genetic traceability, support for forest certifi cation and a sustainable forest management

    Directory of Open Access Journals (Sweden)

    Teodosiu Maria

    2014-12-01

    Full Text Available For a sustainable forest management, beside the choice of the right species in artificial regeneration, the right provenances present their own importance. The existing legal regulation on forest reproductive material moving in trade can only provide an absolute proof of identity, at an unproportionally intense level of controlling. Techniques based on the analysis of DNA markers are a powerful tool for the genetic traceability of forest reproductive material, but on a European level, the traceability systems are yet missing, excepting the two certification systems implemented in Germany (ZüF and FfV. The reference samples collected from individuals in different steps of the forest reproductive material production, and the comparison of their genetic composition, are the principle underlying the German certification systems. The seeds from seed orchards can be identified with highly polymorphic SSR markers, once the the genetic profile of the reference clone is known, without reference samples. For different pourpose, suitable DNA markers are available, and the nuclear microsatellies are the more usefull in individual identification. Different statistical approaches can still be used to assign individual or groups of individuals to a population, but this requires further evaluation for their use in traceability. The control procedures are under development at European level. Their implementation are necessary also in Romania, as connecting to the present scientifical trends, and also related to its position as seeds provided for other European countries.

  5. Defining genetically meaningful language and personality traits in relatives of individuals with fragile X syndrome and relatives of individuals with autism.

    Science.gov (United States)

    Losh, Molly; Klusek, Jessica; Martin, Gary E; Sideris, John; Parlier, Morgan; Piven, Joseph

    2012-09-01

    Substantial phenotypic overlap exists between fragile X syndrome (FXS) and autism, suggesting that FMR1 (the gene causing FXS) poses a significant risk for autism. Cross-population comparisons of FXS and autism therefore offer a potentially valuable method for refining the range of phenotypes associated with variation in FMR1. This study adopted a broader phenotype approach, focusing on parents who are at increased genetic liability for autism or FXS. Women who were carriers of FMR1 in its premutation state were compared with mothers of individuals with autism, and controls in an attempt to determine whether subtle features of the broad autism phenotype may express at elevated rates among FMR1 premutation carriers. The principal personality and language features comprising the broad autism phenotype (i.e., rigid and aloof personality, and particular patterns of pragmatic language use) were assessed among 49 premutation carriers who were mothers of individuals with FXS, 89 mothers of individuals with autism, and 23 mothers of typically developing individuals. Relative to controls, the autism and premutation parent groups showed elevated rates of certain personality and language characteristics of the broad autism phenotype. Findings suggest partially overlapping personality and language profiles among autism and premutation parent groups, with rigid personality style and patterns of pragmatic language use emerging as features most clearly shared between groups. These results provide further evidence for the overlap of autism and FXS, and may implicate FMR1 in some of the subtle features comprising the broad autism phenotype. Copyright © 2012 Wiley Periodicals, Inc.

  6. Induced Variations in Brassinosteroid Genes Define Barley Height and Sturdiness, and Expand the Green Revolution Genetic Toolkit1[C][W][OPEN

    Science.gov (United States)

    Dockter, Christoph; Gruszka, Damian; Braumann, Ilka; Druka, Arnis; Druka, Ilze; Franckowiak, Jerome; Gough, Simon P.; Janeczko, Anna; Kurowska, Marzena; Lundqvist, Joakim; Lundqvist, Udda; Marzec, Marek; Matyszczak, Izabela; Müller, André H.; Oklestkova, Jana; Schulz, Burkhard; Zakhrabekova, Shakhira; Hansson, Mats

    2014-01-01

    Reduced plant height and culm robustness are quantitative characteristics important for assuring cereal crop yield and quality under adverse weather conditions. A very limited number of short-culm mutant alleles were introduced into commercial crop cultivars during the Green Revolution. We identified phenotypic traits, including sturdy culm, specific for deficiencies in brassinosteroid biosynthesis and signaling in semidwarf mutants of barley (Hordeum vulgare). This set of characteristic traits was explored to perform a phenotypic screen of near-isogenic short-culm mutant lines from the brachytic, breviaristatum, dense spike, erectoides, semibrachytic, semidwarf, and slender dwarf mutant groups. In silico mapping of brassinosteroid-related genes in the barley genome in combination with sequencing of barley mutant lines assigned more than 20 historic mutants to three brassinosteroid-biosynthesis genes (BRASSINOSTEROID-6-OXIDASE, CONSTITUTIVE PHOTOMORPHOGENIC DWARF, and DIMINUTO) and one brassinosteroid-signaling gene (BRASSINOSTEROID-INSENSITIVE1 [HvBRI1]). Analyses of F2 and M2 populations, allelic crosses, and modeling of nonsynonymous amino acid exchanges in protein crystal structures gave a further understanding of the control of barley plant architecture and sturdiness by brassinosteroid-related genes. Alternatives to the widely used but highly temperature-sensitive uzu1.a allele of HvBRI1 represent potential genetic building blocks for breeding strategies with sturdy and climate-tolerant barley cultivars. PMID:25332507

  7. Genetic- and Lifestyle-dependent Dental Caries Defined by the Acidic Proline-rich Protein Genes PRH1 and PRH2

    Directory of Open Access Journals (Sweden)

    Nicklas Strömberg

    2017-12-01

    Full Text Available Dental caries is a chronic infectious disease that affects billions of people with large individual differences in activity. We investigated whether PRH1 and PRH2 polymorphisms in saliva acidic proline-rich protein (PRP receptors for indigenous bacteria match and predict individual differences in the development of caries. PRH1 and PRH2 variation and adhesion of indigenous and cariogenic (Streptococcus mutans model bacteria were measured in 452 12-year-old Swedish children along with traditional risk factors and related to caries at baseline and after 5-years. The children grouped into low-to-moderate and high susceptibility phenotypes for caries based on allelic PRH1, PRH2 variation. The low-to-moderate susceptibility children (P1 and P4a− experienced caries from eating sugar or bad oral hygiene or infection by S. mutans. The high susceptibility P4a (Db, PIF, PRP12 children had more caries despite receiving extra prevention and irrespective of eating sugar or bad oral hygiene or S. mutans-infection. They instead developed 3.9-fold more caries than P1 children from plaque accumulation in general when treated with orthodontic multibrackets; and had basic PRP polymorphisms and low DMBT1-mediated S. mutans adhesion as additional susceptibility traits. The present findings thus suggest genetic autoimmune-like (P4a and traditional life style (P1 caries, providing a rationale for individualized oral care.

  8. HLA class II polymorphisms associated with the physiologic characteristics defined by Traditional Chinese Medicine: linking modern genetics with an ancient medicine.

    Science.gov (United States)

    Chen, Shangwu; Lv, Fengjuan; Gao, Jie; Lin, Jianghai; Liu, Zehuan; Fu, Yonggui; Liu, Yin; Lin, Bin; Xie, Yi; Ren, Xiangpeng; Xu, Yunping; Fan, Xinlan; Xu, Anlong

    2007-03-01

    The aim of this study was to test whether human leukocyte antigen (HLA) polymorphism contributes to the physical constitutions classified in Traditional Chinese Medicine (TCM). Seven hundred six (706) individuals of the Han ethnic group inhabiting South China were classified into 7 TCM constitution groups, according to the criteria described in Theories of Physical Constitutions of Traditional Chinese Medicine, and the distributions of HLA-DRB1, DPB1, and DQB1 were investigated using the polymerase chain reaction-sequencing-based typing method. The allele frequencies of DPB1*0501 in the Yin-deficiency group, DRB1*09012 in the Phlegm-wetness group, and DQB1*03032 in the Qi-deficiency and Phlegm-wetness groups were significantly different from that of the corresponding alleles in the Normality constitution, suggesting those alleles might be group-specific alleles and thus related to a particular constitution. Based on our analysis of serological groups of HLA, the associations of DR*04 with the Blood-stasis group and DQ*09 with the Qi-deficiency and Phlegm-wetness groups were observed. This was the first study to systematically investigate the relationship between HLA and TCM constitution using a high-resolution typing technique. The results suggested a genetic basis for the classification of physical constitution in TCM. This study laid the foundation, for the first time ever, toward gaining insight into the theory of traditional medicine using modern biological approaches.

  9. Genetic and biological characterization of a Porcine Reproductive and Respiratory Syndrome Virus 2 (PRRSV-2)causing significant clinical disease in the field

    DEFF Research Database (Denmark)

    Kvisgaard, Lise Kirstine; Larsen, Lars Erik; Hjulsager, Charlotte Kristiane

    2017-01-01

    Porcine Reproductive and Respiratory Syndrome Virus (PRRSV) is the cause of severe reproductive and respiratory disease in swine worldwide. In Denmark, both PRRSV-1 and PRRSV-2 are circulating and approximately 35% of pig herds are seropositive for PRRSV. In November 2010, a pig herd...... in the Northern part of Denmark experienced an infection with PRRSV-2 with clinical signs that were much more severe than normally reported from current Danish PRRSV-2 affected herds. Due to the clinical observations of reproductive failure in sows and high mortality in piglets, it was speculated that a new, more....... Virus shedding, acute phase protein responses and serological responses were comparable to those seen after experimental challenge with a Danish PRRSV-2 reference strain isolated in 1997. Vaccination with a commercial modified live PRRSV-2 vaccine had a clear reducing effect on virus shedding, magnitude...

  10. Long-term implications of feed energy source in different genetic types of reproductive rabbit females: I. Resource acquisition and allocation

    DEFF Research Database (Denmark)

    Arnau-Bonachera, Alberto; Cervera, Concha; Blas, Enrique

    2017-01-01

    ) enhancing milk yield; cereal starch (CS) promoting body reserves recovery. Feed intake, weight, perirenal fat thickness (PFT), milk yield and blood traits were controlled during five consecutive reproductive cycles (RCs). Females fed with CS presented higher PFT (+0.2 mm, P

  11. Genetic and antigenic characterization of complete genomes of Type 1 Porcine Reproductive and Respiratory Syndrome viruses (PRRSV) isolated in Denmark over a period of 10 years

    DEFF Research Database (Denmark)

    Kvisgaard, Lise Kirstine; Hjulsager, Charlotte Kristiane; Kristensen, Charlotte

    2013-01-01

    Porcine Reproductive and Respiratory Syndrome (PRRS) caused by the PRRS virus (PRRSV) is considered one of the most devastating swine diseases worldwide. PRRS viruses are divided into two major genotypes, Type 1 and Type 2, with pronounced diversity between and within the genotypes. In Denmark more...

  12. Estudo da biologia floral e mecanismos reprodutivos do alfavacão (Ocimum officinalis L. visando o melhoramento - DOI: 10.4025/actascibiolsci.v26i3.1598 Study of the floral biology and reproductive mechanisms of Alfavacão (Ocimum officinalis L. aiming at genetic improvement - DOI: 10.4025/actascibiolsci.v26i3.1598

    Directory of Open Access Journals (Sweden)

    Cláudio Lúcio Fernandes Amaral

    2004-04-01

    Full Text Available O Gênero Ocimum, da Família Lamiaceae, compreende plantas ricas em óleos essenciais destinados às industrias para produção de fármacos, perfumes e cosméticos. O conhecimento do sistema reprodutivo é extremamente relevante, pois permite definir estratégias de seleção com base em cruzamentos intra e interpopulacionais. O objetivo deste trabalho foi estudar a biologia floral e os mecanismos reprodutivos do alfavacão com vistas ao melhoramento genético. A atividade floral compreendeu três estádios florais: primeiro, pré-antese, quando ocorreu a polinização; segundo, antese, quando aconteceu a abertura assincrônica de estames e, terceiro, pós-antese, quando houve a fecundação dos óvulos. O processo de antese está intimamente relacionado com as condições climáticas. Os acessos de O. officinalis do Banco de Germoplasma de Plantas Medicinais da UESB, apesar de se reproduzirem, predominantemente, por autofecundação, podem apresentar fecundação cruzada, o que evidencia a ampla versatilidade reprodutiva dessa espécie, acentuando a variabilidade genética, a qual é essencial para sua evoluçãoSome of the plants from Ocimum genus in Lamiaceae family are source of essential oils used in pharmacy, perfume and cosmetics industry. The knowledge of mate systems is extremely important because it allows to define selection strategies based on intra and interpopulation crossbreeding. The aim of this work was to study floral biology and reproductive mechanisms of alfavacão aiming at genetic improvement. The floral activity included three floral stages: first, pre-anthesis, when the pollination happened; second, anthesis, when the asynchronous opening of stamens happened; and third, pos-anthesis, when there was the fecundation of the ova. The anthesis process is intimately related to climatic conditions. The accesses of O. officinalis from Banco de Germoplasma de Plantas Medicinais da UESB (Medicinal Plants Germplasm Bank from UESB

  13. Use of multi-trait and random regression models to identify genetic variation in tolerance to porcine reproductive and respiratory syndrome virus

    NARCIS (Netherlands)

    Lough, Graham; Rashidi, Hamed; Kyriazakis, Ilias; Dekkers, Jack C.M.; Hess, Andrew; Hess, Melanie; Deeb, Nader; Kause, Antti; Lunney, Joan K.; Rowland, Raymond R.R.; Mulder, Herman; Doeschl-Wilson, Andrea

    2017-01-01

    Background: A host can adopt two response strategies to infection: resistance (reduce pathogen load) and tolerance (minimize impact of infection on performance). Both strategies may be under genetic control and could thus be targeted for genetic improvement. Although there is evidence that

  14. Population genetics of indigenous quercus robur L. populations and of derived half-sib families has implications for the reproductive management of the species

    NARCIS (Netherlands)

    Bakker, E.G.; Dam, van B.C.; Eeuwijk, van F.A.; Jacobsen, E.

    2003-01-01

    In the Netherlands indigenous Quercus robur L. populations are rare and have been maintained as patches in ancient woodland. For adequate conservation of these populations, information about genetic variation and population structure is necessary. in order to assess the genetic variation and

  15. Porcine Reproductive and Respiratory Syndrome Virus (PRRSV)

    DEFF Research Database (Denmark)

    Kvisgaard, Lise Kirstine

    This PhD thesis presents the diversity of Porcine Reproductive and Respiratory Syndrome viruses (PRRSV) circulating in the Danish pig population. PRRS is a disease in pigs caused by the PRRS virus resulting in reproductive failures in sows and gilts and respiratory diseases in pigs . Due to genetic...

  16. Reproductive epidemiology

    DEFF Research Database (Denmark)

    Olsen, Jørn; Nøhr, Ellen Aagaard

    2010-01-01

    Reproductive health covers a broad category of health and disease conditions, according to the Cairo Statement. This chapter focuses on subfecundity fertility, fetal death, malformations, pregnancy complications, sexual health, and diseases that may have their origin in fetal life, but which...

  17. Reproductive physiology

    Science.gov (United States)

    Gee, G.F.; Russman, S.E.; Ellis, David H.; Gee, George F.; Mirande, Claire M.

    1996-01-01

    Conclusions: Although the general pattern of avian physiology applies to cranes, we have identified many physiological mechanisms (e.g., effects of disturbance) that need further study. Studies with cranes are expensive compared to those done with domestic fowl because of the crane's larger size, low reproductive rate, and delayed sexual maturity. To summarize, the crane reproductive system is composed of physiological and anatomical elements whose function is controlled by an integrated neural-endocrine system. Males generally produce semen at a younger age than when females lay eggs. Eggs are laid in clutches of two (1 to 3), and females will lay additional clutches if the preceding clutches are removed. Both sexes build nests and incubate the eggs. Molt begins during incubation and body molt may be completed annually in breeding pairs. However, remiges are replaced sequentially over 2 to 3 years, or abruptly every 2 to 3 years in other species. Most immature birds replace their juvenal remiges over a 2 to 3 year period. Stress interferes with reproduction in cranes by reducing egg production or terminating the reproductive effort. In other birds, stress elevates corticosterone levels and decreases LHRH release. We know little about the physiological response of cranes to stress.

  18. Sexual reproduction, seeds, and seedlings

    Science.gov (United States)

    Walter T. McDonough

    1985-01-01

    Natural genetic interchange and extensive colonization of aspen by seed strongly depends upon favorable climatic and microclimatic conditions and upon human intervention. At times, in regions with the right combination of environmental conditions, there is significant L, reproduction by seed; elsewhere such establishment is rare. Seed production generally is profuse;...

  19. Men's Reproductive Health

    Science.gov (United States)

    ... Submit Cancel Close Email Share Dialog × Print Men's Reproductive Health Reproductive health is an important component of men's overall health ... often, males have been overlooked in discussions of reproductive health, especially when reproductive issues such as contraception and ...

  20. Male Reproductive System

    Science.gov (United States)

    ... Kidney Transplant Vision Facts and Myths Male Reproductive System KidsHealth > For Parents > Male Reproductive System Print A ... son's reproductive health. continue About the Male Reproductive System Most species have two sexes: male and female. ...

  1. Genetic Basis of the Relationship Between Reproduction and Longevity: A Study on Common Variants of Three Genes in Steroid Hormone Metabolism--CYP17, HSD17B1, and COMT.

    Science.gov (United States)

    Scarabino, Daniela; Scacchi, Renato; Pinto, Alessandro; Corbo, Rosa Maria

    2015-10-01

    Evolutionary theories of aging predict an antagonistic relationship between fertility and life span in humans, but the genetic basis of this phenomenon is not clear. The variation of three genes in steroid hormone metabolism--CYP17 (rs743572), HSD17B1 (rs 605059), and COMT (rs4680)--was examined to elucidate the genetic basis of the relationship between fertility and life span. A sample of 277 individuals (mean age, 82.9 years) was recruited in 2000. On the basis of mortality data collected in 2009, the sample was divided into two groups of subjects surviving to over 90 years (long-lived) or not (controls). Fertility data (number of children) were collected in the same sample. The HSD17B1 AA genotype was found to be significantly associated (p = 0.0085) with longevity only in the females (estimated odds ratio = 3.77). Because the HSD17B1 AA genotype was also associated with a higher number of children (5.3 ± 2.1) than the other genotypes (p = 0.006), we may infer that HSD17B1 genotypes could exert a positive pleiotropic action on longevity and fertility. CYP17 and COMT gene variation did not influence either life span or fertility. We then searched the literature for genes studied in relation to both reproduction and aging. A review of the studies showed a pleiotropic action for six out of 16 genes and revealed that genes may exert positive, or negative, or antagonistic pleiotropic actions. These potential actions may be modified by such environmental factors such as changing reproductive behaviors, which seem to be able to mitigate or enhance a gene's phenotypic effects.

  2. Adipose tissue and reproductive health.

    Science.gov (United States)

    Mathew, Hannah; Castracane, V Daniel; Mantzoros, Christos

    2017-11-16

    The understanding of adipose tissue role has evolved from that of a depot energy storage organ to a dynamic endocrine organ. While genetics, sexual phenotype and sex steroids can impact the mass and distribution of adipose tissue, there is a counter-influence of white adipocytes on reproduction. This primarily occurs via the secretion of adipokines, the most studied of which- leptin and adiponectin- are highlighted in this article. Leptin, the "satiety hormone" primarily acts on the hypothalamus via pro-opiomelanocortin (POMC), neuropeptide Y (NPY), and agouti-related peptide (AgRP) neurons to translate acute changes in nutrition and energy expenditure, as well as chronic adipose accumulation into changes in appetite and potentially mediate insulin resistance via shared pathway and notably impacting reproductive health via influence on GnRH secreting neurons. Meanwhile, adiponectin is notable for its action in mediating insulin sensitivity, with receptors found at every level of the reproductive axis. Both have been examined in the context of physiologic and pathologic reproductive conditions. Leptin has been shown to influence puberty, pregnancy, hypothalamic amenorrhea, and lipodystrophy, and with a potential therapeutic role for both metabolic and reproductive health. Adiponectin mediates the relative state of insulin resistance in pregnancy, and has been implicated in conditions such as polycystic ovary syndrome and reproductive malignancies. There are numerous other adipokines, including resistin, visfatin, chemerin and retinol binding protein-4, which may also play roles in reproductive health and disease states. The continued examination of these and other adipokines in both normal reproduction and reproductive pathologies represents an important avenue for continued study. Here, we seek to provide a broad, yet comprehensive overview of many facets of these relationships and highlight areas of consideration for clinicians and future study. Copyright © 2017

  3. Toward Understanding the Genetic Basis of Yak Ovary Reproduction: A Characterization and Comparative Analyses of Estrus Ovary Transcriptiome in Yak and Cattle.

    Science.gov (United States)

    Lan, Daoliang; Xiong, Xianrong; Huang, Cai; Mipam, Tserang Donko; Li, Jian

    2016-01-01

    Yaks (Bos grunniens) are endemic species that can adapt well to thin air, cold temperatures, and high altitude. These species can survive in harsh plateau environments and are major source of animal production for local residents, being an important breed in the Qinghai-Tibet Plateau. However, compared with ordinary cattle that live in the plains, yaks generally have lower fertility. Investigating the basic physiological molecular features of yak ovary and identifying the biological events underlying the differences between the ovaries of yak and plain cattle is necessary to understand the specificity of yak reproduction. Therefore, RNA-seq technology was applied to analyze transcriptome data comparatively between the yak and plain cattle estrous ovaries. After deep sequencing, 3,653,032 clean reads with a total of 4,828,772,880 base pairs were obtained from yak ovary library. Alignment analysis showed that 16992 yak genes mapped to the yak genome, among which, 12,731 and 14,631 genes were assigned to Gene Ontology (GO) categories and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways. Furthermore, comparison of yak and cattle ovary transcriptome data revealed that 1307 genes were significantly and differentially expressed between the two libraries, wherein 661 genes were upregulated and 646 genes were downregulated in yak ovary. Functional analysis showed that the differentially expressed genes were involved in various Gene Ontology (GO) categories and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways. GO annotations indicated that the genes related to "cell adhesion," "hormonal" biological processes, and "calcium ion binding," "cation transmembrane transport" molecular events were significantly active. KEGG pathway analysis showed that the "complement and coagulation cascade" pathway was the most enriched in yak ovary transcriptome data, followed by the "cytochrome P450" related and "ECM-receptor interaction" pathways. Moreover, several novel pathways

  4. Toward Understanding the Genetic Basis of Yak Ovary Reproduction: A Characterization and Comparative Analyses of Estrus Ovary Transcriptiome in Yak and Cattle.

    Directory of Open Access Journals (Sweden)

    Daoliang Lan

    Full Text Available Yaks (Bos grunniens are endemic species that can adapt well to thin air, cold temperatures, and high altitude. These species can survive in harsh plateau environments and are major source of animal production for local residents, being an important breed in the Qinghai-Tibet Plateau. However, compared with ordinary cattle that live in the plains, yaks generally have lower fertility. Investigating the basic physiological molecular features of yak ovary and identifying the biological events underlying the differences between the ovaries of yak and plain cattle is necessary to understand the specificity of yak reproduction. Therefore, RNA-seq technology was applied to analyze transcriptome data comparatively between the yak and plain cattle estrous ovaries.After deep sequencing, 3,653,032 clean reads with a total of 4,828,772,880 base pairs were obtained from yak ovary library. Alignment analysis showed that 16992 yak genes mapped to the yak genome, among which, 12,731 and 14,631 genes were assigned to Gene Ontology (GO categories and Kyoto Encyclopedia of Genes and Genomes (KEGG pathways. Furthermore, comparison of yak and cattle ovary transcriptome data revealed that 1307 genes were significantly and differentially expressed between the two libraries, wherein 661 genes were upregulated and 646 genes were downregulated in yak ovary. Functional analysis showed that the differentially expressed genes were involved in various Gene Ontology (GO categories and Kyoto Encyclopedia of Genes and Genomes (KEGG pathways. GO annotations indicated that the genes related to "cell adhesion," "hormonal" biological processes, and "calcium ion binding," "cation transmembrane transport" molecular events were significantly active. KEGG pathway analysis showed that the "complement and coagulation cascade" pathway was the most enriched in yak ovary transcriptome data, followed by the "cytochrome P450" related and "ECM-receptor interaction" pathways. Moreover, several

  5. Interpretive Reproduction in Children's Play

    Science.gov (United States)

    Corsaro, William A.

    2012-01-01

    The author looks at children's play from the perspective of interpretive reproduction, emphasizing the way children create their own unique peer cultures, which he defines as a set of routines, artifacts, values, and concerns that children engage in with their playmates. The article focuses on two types of routines in the peer culture of preschool…

  6. [The bipolarity of the genetic structure of communities of the crucian carp (Carassius linnaeus, 1758) as a reflection of paradoxal reproductive relationships].

    Science.gov (United States)

    Mezhzherin, S V; Kokodiy, S V; Kulish, A V; Pukhtaevitch, P P

    2015-01-01

    An analysis of 133 populations of Carasiius spp. from water bodies in Ukraine showed their polyspecific structure: 62% of individuals of the studied 3453 specimens. turned out to be bisexual goldfishes C. auratus, 25%. were unisexual Prissian carps C. gibelio, 6% accounted for the aboriginal species crucian carp C. carassius, and 6% were hybrids C. auratus x C. carassius. In this case a clear trend has been revealed towards the formation of homogeneous alternative populations, specifically: either C. auratus, or C. gibelio. Individuals of C. carassius and the hybrids C. auratus x C. carassius typically comprise an admixture in various populations. The cause of the bipolar distribution of individuals of C. auratus and C. gibelio between various water bodies is the instability of mixed populations as far as individuals of C. auratus very quickly replace females of C. gibelio due to their low reproductive potential.

  7. Genomic imprinting and assisted reproduction

    Directory of Open Access Journals (Sweden)

    Chaillet J Richard

    2004-10-01

    Full Text Available Abstract Imprinted genes exhibit a parent-of-origin specific pattern of expression. Such genes have been shown to be targets of molecular defects in particular genetic syndromes such as Beckwith-Wiedemann and Angelman syndromes. Recent reports have raised concern about the possibility that assisted reproduction techniques, such as in vitro fertilization or intracytoplasmic sperm injection, might cause genomic imprinting disorders. The number of reported cases of those disorders is still too small to draw firm conclusions and the safety of these widely used assisted reproduction techniques needs to be further evaluated.

  8. Selective Reproduction

    DEFF Research Database (Denmark)

    Svendsen, Mette N.

    2015-01-01

    This article employs a multi-species perspective in investigating how life's worth is negotiated in the field of neonatology in Denmark. It does so by comparing decision-making processes about human infants in the Danish neonatal intensive care unit with those associated with piglets who serve as...... as expectations within linear or predictive time frames are key markers in both sites. Exploring selective reproductive processes across human infants and research piglets can help us uncover aspects of the cultural production of viability that we would not otherwise see or acknowledge....

  9. Reproductive toxicity: Male and female reproductive systems as targets for chemical injury

    Energy Technology Data Exchange (ETDEWEB)

    Mattison, D.R.; Plowchalk, D.R.; Meadows, M.J.; Al-Juburi, A.Z.; Gandy, J.; Malek, A. (Univ. of Arkansas for Medical Sciences, Little Rock (USA))

    1990-03-01

    On the basis of current knowledge of reproductive biology and toxicology, it is apparent that chemicals affecting reproduction may elicit their effects at a number of sites in both the male and the female reproductive system. This multiplicity of targets is attributable to the dynamic nature of the reproductive system, in which the hypothalamic-pituitary-gonadal axis is controlled by precise positive and negative feedback mechanisms among its components. Interference by a xenobiotic at any level in either the male or the female reproductive system may ultimately impair hypothalamic or pituitary function. Normal gonadal processes such as spermatogenesis or oogenesis, ejaculation or ovulation, hormone production by Leydig or granulosa cells, and the structure or function of the accessory reproductive structures (e.g., epididymis, fallopian tube) also appear vulnerable to xenobiotics. The reproductive system is a complex one that requires local and circulating hormones for control. This brief review illustrates a system for characterizing the mechanism of action of reproductive toxicants, as well as for defining the sites available for disruption of reproduction. Unfortunately, at present, data addressing the actual vulnerability of reproduction are sorely lacking. However, when experiments have been conducted and combined with epidemiologic data or clinical observation, it has been possible to demonstrate impairment of reproductive processes by xenobiotics. The role of environmental exposure to xenobiotics in the increase in infertility that has been observed remains to be defined. 87 references.

  10. Effects of Cu/Zn superoxide dismutase (sod1 genotype and genetic background on growth, reproduction and defense in Biomphalaria glabrata.

    Directory of Open Access Journals (Sweden)

    Kaitlin M Bonner

    Full Text Available Resistance of the snail Biomphalaria glabrata to the trematode Schistosoma mansoni is correlated with allelic variation at copper-zinc superoxide dismutase (sod1. We tested whether there is a fitness cost associated with carrying the most resistant allele in three outbred laboratory populations of snails. These three populations were derived from the same base population, but differed in average resistance. Under controlled laboratory conditions we found no cost of carrying the most resistant allele in terms of fecundity, and a possible advantage in terms of growth and mortality. These results suggest that it might be possible to drive resistant alleles of sod1 into natural populations of the snail vector for the purpose of controlling transmission of S. mansoni. However, we did observe a strong effect of genetic background on the association between sod1 genotype and resistance. sod1 genotype explained substantial variance in resistance among individuals in the most resistant genetic background, but had little effect in the least resistant genetic background. Thus, epistatic interactions with other loci may be as important a consideration as costs of resistance in the use of sod1 for vector manipulation.

  11. Disparity of out of pocket expenditure on reproductive health related ...

    African Journals Online (AJOL)

    MESKE

    The World Health Organization defines reproductive health as a state of physical, mental, and social well- being in all matters relating to the reproductive system and to its functions and processes at all stages of life (1). Major aspects of reproductive health include improving antenatal, delivery, postpartum, and newborn care ...

  12. Human reproductive cloning and reasons for deprivation.

    Science.gov (United States)

    Jensen, D A

    2008-08-01

    Human reproductive cloning provides the possibility of genetically related children for persons for whom present technologies are ineffective. I argue that the desire for genetically related children is not, by itself, a sufficient reason to engage in human reproductive cloning. I show this by arguing that the value underlying the desire for genetically related children implies a tension between the parent and the future child. This tension stems from an instance of a deprivation and violates a general principle of reasons for deprivation. Alternative considerations, such as a right to procreative autonomy, do not appear helpful in making the case for human reproductive cloning merely on the basis of the desire for genetically related children.

  13. Use of Genetic Diversity of the Genus Prunus L. in Selection of Clonal Rootstocks for Stone Fruit Crops and Features of Their Reproduction

    Directory of Open Access Journals (Sweden)

    Eremin Gennadiy V.

    2017-06-01

    Full Text Available On the basis of diversity of wild types of the genus Prunus L. (P. cerasifera, P. armeniaca, P. persica, P. fruticosa, P. lannesiana, P. maackii, P. tomentosa, P. pumila, and P. incana in the collection of the Krymsk Experiment Breeding Station, highly adaptive, medium or weak vigour clonal rootstocks for stone fruit crops with good compatibility with grafted cultivars were selected: for plum, apricot and peach - Kuban 86, VVA-1, Evrika 99, Zarevo (Glow, Alab 1, Speaker, Best, VSV-1; and for sweet cherries and sour cherries - L-2, LC-52, VSL-1, VSL-2, and RVL-9. Part of the rootstocks were tested and successfully used in different parts of Russia and some near and far countries. The applied integration of tissue culture in vitro in the selection process at the station considerably promoted the rapid introduction of new rootstocks into world production. Technologies were developed for microclonal reproduction, and green and woody cuttings. The revealed light rooting of woody cuttings of stocks Kuban 86, Evrika 99, Zarevo, Best, VSL-1, RVL-9 (50-80% allowed to develop technology for growing of young plants on these rootstocks directly in the first field of the nursery.

  14. Genetic hemoglobin disorders rather than iron deficiency are a major predictor of hemoglobin concentration in women of reproductive age in rural prey Veng, Cambodia.

    Science.gov (United States)

    Karakochuk, Crystal D; Whitfield, Kyly C; Barr, Susan I; Lamers, Yvonne; Devlin, Angela M; Vercauteren, Suzanne M; Kroeun, Hou; Talukder, Aminuzzaman; McLean, Judy; Green, Timothy J

    2015-01-01

    Anemia is common in Cambodian women. Potential causes include micronutrient deficiencies, genetic hemoglobin disorders, inflammation, and disease. We aimed to investigate factors associated with anemia (low hemoglobin concentration) in rural Cambodian women (18-45 y) and to investigate the relations between hemoglobin disorders and other iron biomarkers. Blood samples were obtained from 450 women. A complete blood count was conducted, and serum and plasma were analyzed for ferritin, soluble transferrin receptor (sTfR), folate, vitamin B-12, retinol binding protein (RBP), C-reactive protein (CRP), and α1 acid glycoprotein (AGP). Hemoglobin electrophoresis and multiplex polymerase chain reaction were used to determine the prevalence and type of genetic hemoglobin disorders. Overall, 54% of women had a genetic hemoglobin disorder, which included 25 different genotypes (most commonly, hemoglobin E variants and α(3.7)-thalassemia). Of the 420 nonpregnant women, 29.5% had anemia (hemoglobin 8.3 mg/L), hemoglobin disorders, respectively. There was no biochemical evidence of vitamin A deficiency (RBP 5 mg/L) and 26% (AGP >1 g/L) of nonpregnant women, respectively. By using an adjusted linear regression model, the strongest predictors of hemoglobin concentration were hemoglobin E homozygous disorder and pregnancy status. Other predictors were 2 other heterozygous traits (hemoglobin E and Constant Spring), parity, RBP, log ferritin, and vitamin B-12. Multiple biomarkers for anemia and iron deficiency were significantly influenced by the presence of hemoglobin disorders, hence reducing their diagnostic sensitivity. Further investigation of the unexpectedly low prevalence of IDA in Cambodian women is warranted. © 2015 American Society for Nutrition.

  15. CDFISH: an individual-based, spatially-explicit, landscape genetics simulator for aquatic species in complex riverscapes

    Science.gov (United States)

    Erin L. Landguth,; Muhlfeld, Clint C.; Luikart, Gordon

    2012-01-01

    We introduce Cost Distance FISHeries (CDFISH), a simulator of population genetics and connectivity in complex riverscapes for a wide range of environmental scenarios of aquatic organisms. The spatially-explicit program implements individual-based genetic modeling with Mendelian inheritance and k-allele mutation on a riverscape with resistance to movement. The program simulates individuals in subpopulations through time employing user-defined functions of individual migration, reproduction, mortality, and dispersal through straying on a continuous resistance surface.

  16. Correlation of the sperm penetration assay (SPA and miscarriage after assisted reproduction: The potential use of spa as a new criterion for preimplantation genetic diagnosis

    Directory of Open Access Journals (Sweden)

    Gradistanac Jelena

    2011-01-01

    Full Text Available We analyzed 93 couples undergoing male screening with the Sperm Penetration Assay (SPA before in vitro fertilization and intracytoplasmic sperm injection (ICSI, to determine the accuracy of SPA for subsequent embryonic development, incidence of pregnancy and miscarriage rates (SAB. ICSI patients with the lowest SPA scores had significantly higher incidences of Sthan did patients in the other SPA groups. Sperm quality is higher with better SPA scores. Poor sperm quality has increased incidence of chromosomal abnormalities and is associated with early fetal loss. Couples with negative SPA are candidates for preimplantation genetic diagnosis, to reduce the incidence of SAB.

  17. Assisted Reproductive Technology (ART)

    Science.gov (United States)

    ... com/wp-content/uploads/2016/04/third-party-reproduction-booklet.pdf (PDF - 902 KB) [top] American Society for Reproductive Medicine. (2015). Assisted reproductive technologies: A guide for patients . Retrieved May ...

  18. Female Reproductive System

    Science.gov (United States)

    ... Kidney Transplant Vision Facts and Myths Female Reproductive System KidsHealth > For Parents > Female Reproductive System Print A ... or sperm. continue Parts of the Female Reproductive System Unlike the male, the human female has a ...

  19. Female reproductive disorders

    DEFF Research Database (Denmark)

    Crain, D Andrew; Janssen, Sarah J; Edwards, Thea M

    2008-01-01

    To evaluate the possible role of endocrine-disrupting compounds (EDCs) on female reproductive disorders emphasizing developmental plasticity and the complexity of endocrine-dependent ontogeny of reproductive organs. Declining conception rates and the high incidence of female reproductive...

  20. Reproduction, physiology and biochemistry

    Science.gov (United States)

    This chapter summarizes fundamental knowledge and recent discoveries about the reproduction, physiology and biochemistry of plant-parasitic nematodes. Various types of reproduction are reviewed, including sexual reproduction and mitotic and meiotic parthenogenesis. Although much is known about the p...

  1. Assisted Reproductive Technology (ART)

    Science.gov (United States)

    ... Cancel Close Email Share Dialog × Print Assisted Reproductive Technology (ART) ART refers to treatments and procedures that ... American Society for Reproductive Medicine. (2015). Assisted reproductive technologies: A guide for patients . Retrieved May 31, 2016, ...

  2. Normal Female Reproductive Anatomy

    Science.gov (United States)

    ... historical Searches are case-insensitive Reproductive System, Female, Anatomy Add to My Pictures View /Download : Small: 720x756 ... Large: 3000x3150 View Download Title: Reproductive System, Female, Anatomy Description: Anatomy of the female reproductive system; drawing ...

  3. Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic)

    NARCIS (Netherlands)

    Claustres, Mireille; Kozich, Viktor; Dequeker, Els; Fowler, Brain; Hehir-Kwa, Jayne Y.; Miller, Konstantin; Oosterwijk, Cor; Peterlin, Borut; van Ravenswaaij-Arts, Conny; Zimmermann, Uwe; Zuffardi, Orsetta; Hastings, Ros J.; Barton, David E.

    Genetic test results can have considerable importance for patients, their parents and more remote family members. Clinical therapy and surveillance, reproductive decisions and genetic diagnostics in family members, including prenatal diagnosis, are based on these results. The genetic test report

  4. Unisexual and heterosexual meiotic reproduction generate aneuploidy and phenotypic diversity de novo in the yeast Cryptococcus neoformans.

    Directory of Open Access Journals (Sweden)

    Min Ni

    2013-09-01

    Full Text Available Aneuploidy is known to be deleterious and underlies several common human diseases, including cancer and genetic disorders such as trisomy 21 in Down's syndrome. In contrast, aneuploidy can also be advantageous and in fungi confers antifungal drug resistance and enables rapid adaptive evolution. We report here that sexual reproduction generates phenotypic and genotypic diversity in the human pathogenic yeast Cryptococcus neoformans, which is globally distributed and commonly infects individuals with compromised immunity, such as HIV/AIDS patients, causing life-threatening meningoencephalitis. C. neoformans has a defined a-α opposite sexual cycle; however, >99% of isolates are of the α mating type. Interestingly, α cells can undergo α-α unisexual reproduction, even involving genotypically identical cells. A central question is: Why would cells mate with themselves given that sex is costly and typically serves to admix preexisting genetic diversity from genetically divergent parents? In this study, we demonstrate that α-α unisexual reproduction frequently generates phenotypic diversity, and the majority of these variant progeny are aneuploid. Aneuploidy is responsible for the observed phenotypic changes, as chromosome loss restoring euploidy results in a wild-type phenotype. Other genetic changes, including diploidization, chromosome length polymorphisms, SNPs, and indels, were also generated. Phenotypic/genotypic changes were not observed following asexual mitotic reproduction. Aneuploidy was also detected in progeny from a-α opposite-sex congenic mating; thus, both homothallic and heterothallic sexual reproduction can generate phenotypic diversity de novo. Our study suggests that the ability to undergo unisexual reproduction may be an evolutionary strategy for eukaryotic microbial pathogens, enabling de novo genotypic and phenotypic plasticity and facilitating rapid adaptation to novel environments.

  5. Unisexual and Heterosexual Meiotic Reproduction Generate Aneuploidy and Phenotypic Diversity De Novo in the Yeast Cryptococcus neoformans

    Science.gov (United States)

    Li, Wenjun; Floyd-Averette, Anna; Mieczkowski, Piotr; Dietrich, Fred S.; Heitman, Joseph

    2013-01-01

    Aneuploidy is known to be deleterious and underlies several common human diseases, including cancer and genetic disorders such as trisomy 21 in Down's syndrome. In contrast, aneuploidy can also be advantageous and in fungi confers antifungal drug resistance and enables rapid adaptive evolution. We report here that sexual reproduction generates phenotypic and genotypic diversity in the human pathogenic yeast Cryptococcus neoformans, which is globally distributed and commonly infects individuals with compromised immunity, such as HIV/AIDS patients, causing life-threatening meningoencephalitis. C. neoformans has a defined a-α opposite sexual cycle; however, >99% of isolates are of the α mating type. Interestingly, α cells can undergo α-α unisexual reproduction, even involving genotypically identical cells. A central question is: Why would cells mate with themselves given that sex is costly and typically serves to admix preexisting genetic diversity from genetically divergent parents? In this study, we demonstrate that α-α unisexual reproduction frequently generates phenotypic diversity, and the majority of these variant progeny are aneuploid. Aneuploidy is responsible for the observed phenotypic changes, as chromosome loss restoring euploidy results in a wild-type phenotype. Other genetic changes, including diploidization, chromosome length polymorphisms, SNPs, and indels, were also generated. Phenotypic/genotypic changes were not observed following asexual mitotic reproduction. Aneuploidy was also detected in progeny from a-α opposite-sex congenic mating; thus, both homothallic and heterothallic sexual reproduction can generate phenotypic diversity de novo. Our study suggests that the ability to undergo unisexual reproduction may be an evolutionary strategy for eukaryotic microbial pathogens, enabling de novo genotypic and phenotypic plasticity and facilitating rapid adaptation to novel environments. PMID:24058295

  6. Influência de fatores genéticos e ambientais sobre características reprodutivas do rebanho eqüino do Exército Brasileiro Genetic and environmental effects on reproduction traits of an equine herd of the Brazilian army

    Directory of Open Access Journals (Sweden)

    Vinício Aurélio Lagoas Campos

    2007-02-01

    , Thoroughbred (Th, Hanoverian (HAN and No Defined Breed (NDB. Data collected from 1977 to 2002 was provided by a Brazilian Army herd. Models used for analyses included the fixed effects of month and year of foaling and measuring, age of dam, foal sex and genetic group. With the exceptions of number of foaling and birth year of dam for foaling date and genetic group for AFF, fixed effects were significant sources of variation for the reproductive traits. The average for FI was 563.9 days and it was significantly influenced by breed effect. There was a trend towards a reduction on FI as younger dams entered the population. The average for AFF was 7.17 years and it was significantly influenced by birth year of the dam. Average reproductive life was 5.34 years. The highest value (6.70 years was observed for BS and the lowest one (4.24 years for Th. The average number of foals was 22.98 per stallion and 3.7 per mare. The GI was 13.05 years for males and 9.99 years for females. Heritability estimates for reproductive traits were low. Replacement of dams at younger age and less use of Th may improve the reproductive efficiency of this herd.

  7. Unisexual reproduction of Cryptococcus gattii.

    Directory of Open Access Journals (Sweden)

    Sujal S Phadke

    Full Text Available Cryptococcus gattii is a basidiomycetous human fungal pathogen that typically causes infection in tropical and subtropical regions and is responsible for an ongoing outbreak in immunocompetent individuals on Vancouver Island and in the Pacific Northwest of the US. Pathogenesis of this species may be linked to its sexual cycle that generates infectious propagules called basidiospores. A marked predominance of only one mating type (α in clinical and environmental isolates suggests that a-α opposite-sex reproduction may be infrequent or geographically restricted, raising the possibility of an alternative unisexual cycle involving cells of only α mating type, as discovered previously in the related pathogenic species Cryptococcus neoformans. Here we report observation of hallmark features of unisexual reproduction in a clinical isolate of C. gattii (isolate 97/433 and describe genetic and environmental factors conducive to this sexual cycle. Our results are consistent with population genetic evidence of recombination in the largely unisexual populations of C. gattii and provide a useful genetic model for understanding how novel modes of sexual reproduction may contribute to evolution and virulence in this species.

  8. Genetic Evolution of Shape-Altering Programs for Supersonic Aerodynamics

    Science.gov (United States)

    Kennelly, Robert A., Jr.; Bencze, Daniel P. (Technical Monitor)

    2002-01-01

    Two constrained shape optimization problems relevant to aerodynamics are solved by genetic programming, in which a population of computer programs evolves automatically under pressure of fitness-driven reproduction and genetic crossover. Known optimal solutions are recovered using a small, naive set of elementary operations. Effectiveness is improved through use of automatically defined functions, especially when one of them is capable of a variable number of iterations, even though the test problems lack obvious exploitable regularities. An attempt at evolving new elementary operations was only partially successful.

  9. Epigenetics of reproductive infertility.

    Science.gov (United States)

    Das, Laxmidhar; Parbin, Sabnam; Pradhan, Nibedita; Kausar, Chahat; Patra, Samir K

    2017-06-01

    Infertility is a complex pathophysiological condition. It may caused by specific or multiple physical and physiological factors, including abnormalities in homeostasis, hormonal imbalances and genetic alterations. In recent times various studies implicated that, aberrant epigenetic mechanisms are associated with reproductive infertility. There might be transgenerational effects associated with epigenetic modifications of gametes and studies suggest the importance of alterations in epigenetic modification at early and late stages of gametogenesis. To determine the causes of infertility it is necessary to understand the altered epigenetic modifications of associated gene and mechanisms involved therein. This review is devoted to elucidate the recent mechanistic advances in regulation of genes by epigenetic modification and emphasizes their possible role related to reproductive infertility. It includes environmental, nutritional, hormonal and physiological factors and influence of internal structural architecture of chromatin nucleosomes affecting DNA and histone modifications in both male and female gametes, early embryogenesis and offspring. Finally, we would like to emphasize that research on human infertility by gene knock out of epigenetic modifiers genes must be relied upon animal models.

  10. Paternal age and reproduction.

    Science.gov (United States)

    Sartorius, Gideon A; Nieschlag, Eberhard

    2010-01-01

    Due to various sociological factors, couples in developed countries are increasingly delaying childbearing. Besides ethical, economical and sociological issues, this trend presents us with several complex problems in reproduction. Although it is well-known that maternal age has a negative effect on fertility and increases the risk of adverse outcome during pregnancy and in offspring, the paternal influence on these outcomes is less well researched and not well-known. We performed a systematic search of PubMed, and retrieved original articles and review articles to update our previous survey in this journal. This review highlights the link between male age and genetic abnormalities in the germ line and summarizes the knowledge about the effects of paternal age on reproductive function and outcome. Increasing paternal age can be associated with decreasing androgen levels, decreased sexual activity, alterations of testicular morphology and a deterioration of semen quality (volume, motility, morphology). Increased paternal age has an influence on DNA integrity of sperm, increases telomere length in spermatozoa and is suggested to have epigenetic effects. These changes may, at least in part, be responsible for the association of paternal age over 40 years with reduced fertility, an increase in pregnancy-associated complications and adverse outcome in the offspring. Although higher maternal age can be an indication for intensive prenatal diagnosis, including invasive diagnostics, consideration of the available evidence suggests that paternal age itself, however, provides no rationale for invasive procedures.

  11. Human reproduction: current status.

    Science.gov (United States)

    Izzo, Carlos Roberto; Monteleone, Pedro Augusto Araújo; Serafini, Paulo C

    2015-01-01

    The concern about the maintenance of the human species has existed since the earliest civilizations. Progress in the diagnosis and treatment of infertility has led to the development of assisted reproductive techniques (ART) which, along with the evolution of genetics and molecular biology studies, have contributed in a concrete way to the management of infertile couples. Classic in vitro fertilization was initially developed 35 years ago for the treatment of women with tubal blockage, however, it remains inaccessible to a significant proportion of infertile couples around the world. This can be explained by the lack of specialized clinics in some countries and by the high cost of the procedures. Efforts have been employed to increase the number of treatment cycles for assisted reproduction, as for example, the creation of low-cost programs. Even today, infertility remains a problem of global proportions, affecting millions of couples. The estimate of the incidence of infertility is uncertain, mainly because of the criteria used for its definition. This article aims to review the most important aspects, succinctly, regarding the incidence, etiology, and treatment options available to infertile couples.

  12. Drinking Levels Defined

    Science.gov (United States)

    ... up to 2 drinks per day for men. Binge Drinking: NIAAA defines binge drinking as a pattern of drinking that brings blood ... Survey on Drug Use and Health (NSDUH), defines binge drinking as 5 or more alcoholic drinks for males ...

  13. From Two to One: Unipolar Sexual Reproduction

    Science.gov (United States)

    Sun, Sheng; Heitman, Joseph

    2015-01-01

    While sexual reproduction is universal in eukaryotes, and shares conserved core features, the specific aspects of sexual reproduction can differ dramatically from species to species. This is also true in Fungi. Among fungal species, mating determination can vary from tetrapolar with more than a thousand different mating types, to bipolar with only two opposite mating types, and finally to unipolar without the need of a compatible mating partner for sexual reproduction. Cryptococcus neoformans is a human pathogenic fungus that belongs to the Basidiomycota. While C. neoformans has a well-defined bipolar mating system with two opposite mating types, MATa and MATα, it can also undergo homothallic unisexual reproduction from one single cell or between two cells of the same mating type. Recently, it was shown that, as in a-α bisexual reproduction, meiosis is also involved in α-α unisexual reproduction in C. neoformans. Briefly, recombination frequencies, the number of crossovers along chromosomes, as well as frequencies at which aneuploid and diploid progeny are produced, are all comparable between a-α bisexual and α-α unisexual reproduction. The plasticity observed in C. neoformans sexual reproduction highlights the extensive diversity in mating type determination, mating recognition, as well as modes of sexual reproduction across fungal species. PMID:26744600

  14. Female reproductive disorders

    DEFF Research Database (Denmark)

    Crain, D Andrew; Janssen, Sarah J; Edwards, Thea M

    2008-01-01

    To evaluate the possible role of endocrine-disrupting compounds (EDCs) on female reproductive disorders emphasizing developmental plasticity and the complexity of endocrine-dependent ontogeny of reproductive organs. Declining conception rates and the high incidence of female reproductive...... disruptions warrant evaluation of the impact of EDCs on female reproductive health....

  15. Reproductive Medicine in Amphibians.

    Science.gov (United States)

    Chai, Norin

    2017-05-01

    Reproduction of amphibians includes ovulation, spermiation, fertilization, oviposition, larval stage and development, and metamorphosis. A problem at any stage could lead to reproductive failure. To stimulate reproduction, environmental conditions must be arranged to simulate changes in natural habits. Reproductive life history is well documented in amphibians; a thorough knowledge of this subject will aid the practitioner in diagnosis and treatment. Technologies for artificial reproduction are developing rapidly, and some protocols may be transferable to privately kept or endangered species. Reproductive tract disorders are rarely described; no bacterial or viral diseases are known that specifically target the amphibian reproductive system. Copyright © 2016 Elsevier Inc. All rights reserved.

  16. Chromosome microarrays in human reproduction.

    Science.gov (United States)

    Rajcan-Separovic, Evica

    2012-01-01

    Chromosome microarray (CMA) testing allows automatic and easy identification of large chromosomal abnormalities detectable by conventional cytogenetics as well as the detection of submicroscopic chromosomal imbalances. A PubMed search was performed in order to review the current use of CMA testing in the field of human reproduction. Articles discussing the use of CMA in the preimplantation setting, ongoing pregnancies, miscarriages and patients with reproductive disorders were considered. A high rate of concordance between conventional methods of detecting chromosomal abnormalities [e.g. fluorescence in situ hybridization (FISH), karyotyping] and CMA was reported in the prenatal setting with CMA providing more comprehensive and detailed results as it investigates the whole genome at higher resolution. In preimplantation genetic screening, CMA is replacing FISH and the selection of embryos based on CMA has already resulted in live births. For ongoing pregnancies and miscarriages, CMA eliminates tissue culture failures and artifacts and allows a quick turnaround time. The detection of submicroscopic imbalances [or copy number variants (CNVs)] is beneficial when the imbalance has a clear clinical consequence but is challenging for previously undescribed imbalances, particularly for ongoing pregnancies. Recurrent CNVs have been documented in patients with reproductive disorders; however, the application of CMA in this field is still limited. CMA enhances reproductive medicine as it facilitates better understanding of the genetic aspects of human development and reproduction and more informed patient management. Further clinical validation of CMA in the prenatal setting, creation of practice guidelines and catalogs of newly discovered submicroscopic imbalances with clinical outcomes are areas that will require attention in the future.

  17. Reproductive Disorders in Snakes.

    Science.gov (United States)

    Di Girolamo, Nicola; Selleri, Paolo

    2017-05-01

    Reproduction of snakes is one of the challenging aspects of herpetology medicine. Due to the complexity of reproduction, several disorders may present before, during, or after this process. This article describes the physical examination, and radiographic, ultrasonographic, and endoscopic findings associated with reproductive disorders in snakes. Surgical techniques used to resolve reproductive disorders in snakes are described. Finally, common reproductive disorders in snakes are individually discussed. Copyright © 2017 Elsevier Inc. All rights reserved.

  18. Use of Assisted Reproductive Technologies for Livestock Development

    Directory of Open Access Journals (Sweden)

    Vikrama Chakravarthi. P and N. Sri Balaji

    2010-10-01

    Full Text Available Genetic improvement of farm animals is a prime concern over the years for researchers. Several reproductive technologies have been employed to achieve this. Assisted reproductive technologies like Artificial insemination, Superovulation, In vitro Fertilization, Embryo Transfer have been introduced to overcome reproductive problems, to increase the offspring from selected female’s and to reduce the generation intervals in farm animals. The progress achieved during the last few years in the assisted reproductive technologies field has been phenomenal. Artificial Insemination (AI is the most effective method being used for the genetic improvement of animals. Reproductive capacity and efficiency has been improved tremendously since the introduction of artificial insemination. The development of cloning using various cells from the animal body has created opening of a fascinating scientific arena. These technologies have been propounded as saviors of indigenous livestock breeds. These alternative reproductive techniques are available not only for manipulation of reproductive processes but also proven to be powerful tools in curbing the spread of vertically transmitted diseases. The successful reproductive technologies such as AI and Embryo transfer need be applied on a large scale, emerging biotechnogies such as MOET, IVF and Cloning provides powerful tool for rapidly changing the animal populations, genetically. This advanced reproduction technologies will definitely play an important role in the future perspective and visions for efficient reproductive performance in livestock. [Vet. World 2010; 3(5.000: 238-240

  19. Initial maternal serum human chorionic gonadotropin levels in pregnancies achieved after assisted reproductive technology are higher after preimplantation genetic screening and after frozen embryo transfer: a retrospective cohort.

    Science.gov (United States)

    Hobeika, Elie; Singh, Sonali; Malik, Shaveta; Knochenhauer, Eric S; Traub, Michael L

    2017-10-01

    Few published articles have compared initial hCG values across all different types of ART cycles, including cycles with fresh or frozen embryo transfer. No articles have compared initial hCG values in cycles utilizing preimplantation genetic screening (PGS). The purpose of this study is to compare initial hCG values after fresh embryo transfer, frozen embryo transfer, and after PGS. This was a single-center retrospective cohort study at an academically affiliated private IVF center. All fresh and frozen embryo transfers between January 2013 and December 31, 2015 were included. We compared mean initial serum hCG values 14 days after oocyte retrieval for fresh cycles and 9 days after frozen embryo transfer. We examined cycles of single embryo transfer (SET) and double embryo transfer (DET). Two hundred elven IVF (fresh embryo transfer), 128 FET (frozen embryo transfer cycles, no PGS), and 111 PGS cycles (ovarian stimulation with embryo cryopreservation, PGS, and frozen transfer in a subsequent estrogen-primed cycle) with initial positive hCG values were analyzed. In patients achieving a positive hCG after SET, initial hCG values were higher after PGS compared to FET (182.4 versus 124.0 mIU/mL, p = 0.02) and IVF (182.4 versus 87.1 mIU/mL, p < 0.001) as well as FET compared to IVF (124.0 versus 87.1 mIU/mL, p < 0.01). After DET, initial hCG values were higher after PGS (222.8 mIU/mL) compared to FET (182.1 mIU/mL, p = 0.02) and IVF (131.1 mIU/mL, p = 0.001). Our study suggests that initial serum hCG values are higher after using PGS and higher after the transfer of a frozen embryo compared to a fresh embryo. This suggests that initial hCG values relate to the chromosomal status of embryos. Initial hCG values may help determine intervention and monitoring later in pregnancy.

  20. Reproductive toxicity of metals in men.

    Science.gov (United States)

    Pizent, Alica; Tariba, Blanka; Živković, Tanja

    2012-01-01

    A combination of genetic, environmental and lifestyle factors contributes to adverse effects on the reproductive health in men. Metals are pervasive in food, water, air, tobacco smoke, and alcoholic beverages. Experimental studies suggest that many metals have adverse effects on the male reproductive function. However, information about reproductive effects of human exposure to metals is scarce and/or inconsistent. This review summarises the information from epidemiological studies of the effects of metal exposure on reproductive function in men. Factors capable of affecting these relationships were identified and discussed. A particular attention is given to the studies considering influence of concomitant exposure to various metals. These studies have generally confirmed that even moderate- to low-level exposure to lead affects certain reproductive parameters, and that exposure to cadmium affects the prostate function and serum testosterone levels. Adverse effects of mercury, manganese, chromium and arsenic on semen quality and altered serum hormone are less well documented. There is no clear evidence that boron exposure may impair reproductive health in men. Only a few studies have investigated reproductive effects of concomitant exposure to several metals and controlled for potential confounders. Future studies should consider the contribution of combined exposure to various metals and/or other factors that may influence individual susceptibility to reproductive health impairment in men.

  1. Defining Legal Moralism

    DEFF Research Database (Denmark)

    Thaysen, Jens Damgaard

    2015-01-01

    This paper discusses how legal moralism should be defined. It is argued that legal moralism should be defined as the position that “For any X, it is always a pro tanto reason for justifiably imposing legal regulation on X that X is morally wrong (where “morally wrong” is not conceptually equivalent...

  2. Phenology of brown marmorated stink bug described using female reproductive development

    National Research Council Canada - National Science Library

    Nielsen, Anne L; Fleischer, Shelby; Hamilton, George C; Hancock, Tori; Krawczyk, Gregorz; Lee, Jana C; Ogburn, Emily; Pote, John M; Raudenbush, Amy; Rucker, Ann; Saunders, Michael; Skillman, Victoria P; Sullivan, Jeanne; Timer, Jody; Walgenbach, James; Wiman, Nik G; Leskey, Tracy C

    2017-01-01

    .... We expand on the use of a temperature‐based process defining timing of reproduction through the incorporation of female reproductive physiology for the invasive pentatomid species Halyomorpha halys, the brown marmorated stink bug. A five...

  3. Weighing the Impact of Diet and Lifestyle on Female Reproductive Function.

    Science.gov (United States)

    Garruti, Gabriella; De Palo, Raffaella; De Angelisc, Maria

    2017-05-17

    In the last years several scientific societies and expert groups focused on the role played by nutritional factors, lifestyle and excess of body fat in interfering with female reproduction and fertility. In many studies a confounding factor is represented by polycystic ovary syndrome (PCOS) which is one of the major causes of infertility where genetic and family factors are certainly playing a role, together with lifestyle and nutritional factors. In an attempt to define "the optimal fertility diet", we will consider the role played by Mediterranean lifestyle and some macronutrients (animal and vegetable proteins) on ovulatory disorders and female fertility also considering some new visions derived from randomized trials of Lifestyle programs in obese Infertile women asking for in vitro fertilization or alternative assisted reproduction technologies. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

  4. Reproductive activity and welfare of rabbit does

    Directory of Open Access Journals (Sweden)

    C. Castellini

    2010-04-01

    Full Text Available This paper reviews the relationships between reproductive performance and welfare of the rabbit does. In the last 10 years the profitability of rabbit farms has increased mainly due to improvements in management and genetic selection but several problems mainly related to animal welfare have also occurred. The mortality and rates of female replacement per year are very high and the replaced females often show poor body condition and low performance. The effect of kindling order, litter size, genetic strain, weaning age and reproduction rhythm on the reproductive performance and welfare of females and some mechanisms implicated in these effects are discussed. Modern rabbit does produce a lot of milk which have a high energetic value which leads to a mobilization of body fat which results in an energy deficit. In the current reproductive rhythms, there is an extensive overlap between lactation and gestation. The resulting energetic and hormonal antagonism reduces the fertility rate and lifespan of the doe. Strategies to improve the fertility, lifespan and welfare of does are discussed. An approach which combines various strategies seems to be required to meet these objectives. Since the factors involved in this productive system are fixed (genetic strain, environment the most powerful way to improve doe welfare is to choose a reproductive rhythm that is adapted to the physiology of the does.

  5. Reproductive autonomy: A case study | Hall | South African Journal ...

    African Journals Online (AJOL)

    Reproductive autonomy (RA) has been challenged by the availability of genetic information, disability and the ethics of selective reproduction. Utilitarian and rights-based approaches, as well as procreative beneficence (PB) fail to provide compelling reasons for infringing RA, and may even be likened to dangerous ...

  6. Current and future reproductive technologies for avian species.

    Science.gov (United States)

    Ramachandran, Ramesh

    2014-01-01

    The global demand for poultry meat and eggs is expected to increase exponentially in the next several decades. Increasing global poultry production in the future would require significant improvements in genetics, nutrition, and managerial practices including reproduction. This chapter summarizes some of the recent developments in ameliorating reproductive dysfunction in broiler breeder chickens, cryopreservation of avian spermatozoa, sex selection, and avian transgenesis.

  7. Effects of season and regulated photoperiod on the reproductive ...

    African Journals Online (AJOL)

    user

    Effects of season and regulated photoperiod on the reproductive performance of sows. T.C. Chokoe. 1,2 and F.K. Siebrits. 2#. 1 ARC, Department of Reproduction Genetic Resources, Irene Animal Improvement Institute, Private Bag X02,. Irene 0062, South Africa. 2 Tshwane University of Technology, Department of Animal ...

  8. The repeatability of reproduction rate in the Tygerboek Merino Dock

    African Journals Online (AJOL)

    ) thesis submitted to the University of Stellenbosch. Introduction. In previous papers on reproduction rate in the Tygerhoek. Merino flock, attention was given to the heritability of components ofreproduction rate and genetic correlations of these ...

  9. Squalus cubensis Reproduction Data

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Reproductive data from Squalus cubensis (Cuban dogfish) were opportunistically collected from 2005-2012. Data include those necessary to examine reproductive cycle,...

  10. Integrative data analysis of male reproductive disorders

    DEFF Research Database (Denmark)

    Edsgard, Stefan Daniel

    During the last decades a decline in male reproductive health has been observed in Nordic countries, and particularly in Denmark. Testicular cancer is the most fatal form of male reproductive disorders, and despite high remission rates it is typically accompanied with infertility. The main topic...... of this thesis is the identification of the molecular basis of male reproductive disorders, with a special focus on testicular cancer. To this end, clinical samples were characterized by microarraybased transcription and genomic variation assays and molecular entities were identified by computational analysis...... of such data in conjunction with data from publicly available repositories. This thesis presents an introduction to disease genetics and molecular systems biology, followed by four studies that each provide detailed clues to the etiology of male reproductive disorders. Finally, a fifth study illustrates...

  11. Male Reproductive Disorders and Fertility Trends

    DEFF Research Database (Denmark)

    Skakkebaek, Niels E; Rajpert-De Meyts, Ewa; Buck Louis, Germaine M

    2016-01-01

    . Caucasians have rates below replacement, while TFRs among African-Americans and Hispanics are higher. We review possible links between TFR and trends in a range of male reproductive problems, including testicular cancer, disorders of sex development, cryptorchidism, hypospadias, low testosterone levels, poor...... semen quality, childlessness, changed sex ratio, and increasing demand for assisted reproductive techniques. We present evidence that several adult male reproductive problems arise in utero and are signs of testicular dysgenesis syndrome (TDS). Although TDS might result from genetic mutations, recent...... to prioritize research in reproductive physiology and pathophysiology, particularly in highly industrialized countries facing decreasing populations. We highlight a number of topics that need attention by researchers in human physiology, pathophysiology, environmental health sciences, and demography....

  12. Human reproductive cloning: a conflict of liberties.

    Science.gov (United States)

    Havstad, Joyce C

    2010-02-01

    Proponents of human reproductive cloning do not dispute that cloning may lead to violations of clones' right to self-determination, or that these violations could cause psychological harms. But they proceed with their endorsement of human reproductive cloning by dismissing these psychological harms, mainly in two ways. The first tactic is to point out that to commit the genetic fallacy is indeed a mistake; the second is to invoke Parfit's non-identity problem. The argument of this paper is that neither approach succeeds in removing our moral responsibility to consider and to prevent psychological harms to cloned individuals. In fact, the same commitment to personal liberty that generates the right to reproduce by means of cloning also creates the need to limit that right appropriately. Discussion of human reproductive cloning ought to involve a careful and balanced consideration of both the relevant aspects of personal liberty - the parents' right to reproductive freedom and the cloned child's right to self-determination.

  13. Selective Reproduction in the 21st Century

    DEFF Research Database (Denmark)

    . To this end, selective reproductive technologies (SRTs) have been developed and routinized over the last few decades. In today’s world, selective reproduction is taking place on a historically unprecedented scale; through sex-selective abortions following ultrasound scans, termination of pregnancies following......In the 21st century, human reproduction increasingly involves decisions about which gametes to fertilize, which embryos to implant, or which fetuses to abort. The term ‘selective reproduction’ refers to these increasingly widespread efforts to bring specific kinds of children into being...... detection of fetal anomalies during prenatal screening and testing programs, the development of preimplantation genetic diagnosis techniques as well as the screening of potential gamete donors by egg agencies and sperm banks. Selective Reproduction in the 21st Century provides unique ethnographic insights...

  14. Wenatchee River steelhead reproductive success - Estimate the relative reproductive success of hatchery and wild steelhead in the Wenatchee River, WA

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This project uses genetic parentage analysis to estimate the relative reproductive success of hatchery and wild steelhead spawning in the Wenatchee River, WA. The...

  15. Defining persistent hotspots

    DEFF Research Database (Denmark)

    Kittur, Nupur; Binder, Sue; Campbell, Carl H.

    2017-01-01

    , investigators and neglected tropical disease (NTD) program managers need to define them based on changes in prevalence and/or intensity. But how should the data be analyzed to define a persistent hotspot? We have analyzed a dataset from an operational research study in western Tanzania after three annual MDAs...... and contrast the outcomes of these analyses. Our intent is to showhowthe samedataset yields different numbers of persistent hotspots depending on the approach used to define them. We suggest that investigators and NTD program managers use the approach most suited for their study or program, but whichever...... using four different approaches to define persistent hotspots. The four approaches are 1) absolute percent change in prevalence; 2) percent change in prevalence; 3) change in World Health Organization guideline categories; 4) change (absolute or percent) in both prevalence and intensity. We compare...

  16. Historically defined autobiographical periods

    DEFF Research Database (Denmark)

    Brown, Norman R.; Hansen, Tia G. B.; Lee, Peter J.

    2012-01-01

    over time and theoretical implications are discussed, notably by introducing a new approach to autobiographical memory, Transition Theory, which assumes that autobiographical memory is organized by transitional events that can be selfinitiated or externally imposed - historically defined...

  17. Breeding soundness evaluation and reproductive management in ...

    African Journals Online (AJOL)

    Assisted reproductive techniques such as artificial insemination (AI) have been used to improve genetic diversity and performance in equines. Employment of breeding soundness evaluation is critical in the selection of the best animal. Semen evaluation in equine includes gross evaluation of raw semen for color.

  18. Defining Documentary Film

    DEFF Research Database (Denmark)

    Juel, Henrik

    2006-01-01

    A discussion of various attemts at defining documentary film regarding form, content, truth, stile, genre or reception - and a propoposal of a positive list of essential, but non-exclusive characteristica of documentary film......A discussion of various attemts at defining documentary film regarding form, content, truth, stile, genre or reception - and a propoposal of a positive list of essential, but non-exclusive characteristica of documentary film...

  19. Male Reproductive System (For Teens)

    Science.gov (United States)

    ... Why Exercise Is Wise Are Detox Diets Safe? Male Reproductive System KidsHealth > For Teens > Male Reproductive System ... and female reproductive systems. continue What Is the Male Reproductive System? Most species have two sexes: male ...

  20. Reproductive isolation during domestication.

    Science.gov (United States)

    Dempewolf, Hannes; Hodgins, Kathryn A; Rummell, Sonja E; Ellstrand, Norman C; Rieseberg, Loren H

    2012-07-01

    It has been hypothesized that reproductive isolation should facilitate evolution under domestication. However, a systematic comparison of reproductive barrier strength between crops and their progenitors has not been conducted to test this hypothesis. Here, we present a systematic survey of reproductive barriers between 32 economically important crop species and their progenitors to better understand the role of reproductive isolation during the domestication process. We took a conservative approach, avoiding those types of reproductive isolation that are poorly known for these taxa (e.g., differences in flowering time). We show that the majority of crops surveyed are isolated from their progenitors by one or more reproductive barriers, despite the fact that the most important reproductive barrier in natural systems, geographical isolation, was absent, at least in the initial stages of domestication for most species. Thus, barriers to reproduction between crops and wild relatives are closely associated with domestication and may facilitate it, thereby raising the question whether reproductive isolation could be viewed as a long-overlooked "domestication trait." Some of the reproductive barriers observed (e.g., polyploidy and uniparental reproduction), however, may have been favored for reasons other than, or in addition to, their effects on gene flow.

  1. Chemically defined medium and Caenorhabditis elegans

    Science.gov (United States)

    Szewczyk, Nathaniel J.; Kozak, Elena; Conley, Catharine A.

    2003-01-01

    BACKGROUND: C. elegans has been established as a powerful genetic system. Use of a chemically defined medium (C. elegans Maintenance Medium (CeMM)) now allows standardization and systematic manipulation of the nutrients that animals receive. Liquid cultivation allows automated culturing and experimentation and should be of use in large-scale growth and screening of animals. RESULTS: We find that CeMM is versatile and culturing is simple. CeMM can be used in a solid or liquid state, it can be stored unused for at least a year, unattended actively growing cultures may be maintained longer than with standard techniques, and standard C. elegans protocols work well with animals grown in defined medium. We also find that there are caveats to using defined medium. Animals in defined medium grow more slowly than on standard medium, appear to display adaptation to the defined medium, and display altered growth rates as they change the composition of the defined medium. CONCLUSIONS: As was suggested with the introduction of C. elegans as a potential genetic system, use of defined medium with C. elegans should prove a powerful tool.

  2. Gene pathways that delay Caenorhabditis elegans reproductive senescence.

    Directory of Open Access Journals (Sweden)

    Meng C Wang

    2014-12-01

    Full Text Available Reproductive senescence is a hallmark of aging. The molecular mechanisms regulating reproductive senescence and its association with the aging of somatic cells remain poorly understood. From a full genome RNA interference (RNAi screen, we identified 32 Caenorhabditis elegans gene inactivations that delay reproductive senescence and extend reproductive lifespan. We found that many of these gene inactivations interact with insulin/IGF-1 and/or TGF-β endocrine signaling pathways to regulate reproductive senescence, except nhx-2 and sgk-1 that modulate sodium reabsorption. Of these 32 gene inactivations, we also found that 19 increase reproductive lifespan through their effects on oocyte activities, 8 of them coordinate oocyte and sperm functions to extend reproductive lifespan, and 5 of them can induce sperm humoral response to promote reproductive longevity. Furthermore, we examined the effects of these reproductive aging regulators on somatic aging. We found that 5 of these gene inactivations prolong organismal lifespan, and 20 of them increase healthy life expectancy of an organism without altering total life span. These studies provide a systemic view on the genetic regulation of reproductive senescence and its intersection with organism longevity. The majority of these newly identified genes are conserved, and may provide new insights into age-associated reproductive senescence during human aging.

  3. Reproduction (II): Human Control of Reproductive Processes

    Science.gov (United States)

    Jost, Alfred

    1970-01-01

    Describes methods of intervening in reproduction of animals and humans (artificial insemination, contraception, ovular and blastodisc transplants, pre selection of sex, cloning) and discusses the social implications of their use with humans. (AL)

  4. Defining Life: Synthesis and Conclusions

    Science.gov (United States)

    Gayon, Jean

    2010-04-01

    The first part of the paper offers philosophical landmarks on the general issue of defining life. §1 defends that the recognition of “life” has always been and remains primarily an intuitive process, for the scientist as for the layperson. However we should not expect, then, to be able to draw a definition from this original experience, because our cognitive apparatus has not been primarily designed for this. §2 is about definitions in general. Two kinds of definition should be carefully distinguished: lexical definitions (based upon current uses of a word), and stipulative or legislative definitions, which deliberately assign a meaning to a word, for the purpose of clarifying scientific or philosophical arguments. The present volume provides examples of these two kinds of definitions. §3 examines three traditional philosophical definitions of life, all of which have been elaborated prior to the emergence of biology as a specific scientific discipline: life as animation (Aristotle), life as mechanism, and life as organization (Kant). All three concepts constitute a common heritage that structures in depth a good deal of our cultural intuitions and vocabulary any time we try to think about “life”. The present volume offers examples of these three concepts in contemporary scientific discourse. The second part of the paper proposes a synthesis of the major debates developed in this volume. Three major questions have been discussed. A first issue (§4) is whether we should define life or not, and why. Most authors are skeptical about the possibility of defining life in a strong way, although all admit that criteria are useful in contexts such as exobiology, artificial life and the origins of life. §5 examines the possible kinds of definitions of life presented in the volume. Those authors who have explicitly defended that a definition of life is needed, can be classified into two categories. The first category (or standard view) refers to two conditions

  5. Heterotopic pregnancy in an assisted reproduction conception; case ...

    African Journals Online (AJOL)

    Infertility management by assisted reproduction techniques has had rapid increase. While there is robust evidence supporting the efficacy and safety of assisted reproduction technique (ART), complications are encountered. Heterotopic pregnancy, defined as the presence of both an intrauterine and an ectopic gestation, ...

  6. Defining biodiversity resources

    OpenAIRE

    Gadgil, Madhav

    2000-01-01

    The scope of the Biological Diversity Bill, tabled in the monsoon 2000 session of the Indian Parliament is excessively wide covering all biological resources. Instead it should focus on diversity related end-uses such as drugs, industrial enzymes, cosmetics, dyestuffs, plant growth regulators, emulsifiers, oleoresins and genes used for improving crops and livestock through breeding and genetic intervention. It should seek to regulate collection and movement of such biodiversity resources and ...

  7. Natureza humana criada em laboratório: biologização e genetização do parentesco nas novas tecnologias reprodutivas Human nature created in the laboratory: the biologization and genetization of kinship in new reproductive technologies

    Directory of Open Access Journals (Sweden)

    Naara Luna

    2005-08-01

    Full Text Available As novas tecnologias reprodutivas, também chamadas de 'reprodução assistida', são procedimentos que permitem a procriação sem a relação sexual, sendo as técnicas mais conhecidas a inseminação artificial e a fertilização in vitro (bebê de proveta. O acesso às técnicas também levanta a discussão sobre a genetização dos laços de parentesco, em contraste com as práticas de adoção ou procedimentos como a doação de gametas (óvulos e espermatozóides e embriões. Com base em pesquisa etnográfica com usuárias e profissionais envolvidos em reprodução assistida, e em bibliografia específica, este trabalho visa discutir que concepções de natureza humana estão implicadas na biologização e na genetização do parentesco nas novas tecnologias reprodutivas.New reproductive technologies or assisted reproduction are procedures that make procreation possible without sexual relations, the most well-known being artificial insemination and in vitro fertilization ('test-tube' babies. Use of these new techniques raises the issue of the genetization of kinship ties, in contrast with adoption or procedures involving the donation of gametes (eggs and sperms and embryos. Based both on ethnographic research with users and professionals in assisted reproduction and also on bibliographic research, the article discusses the concepts of human nature implied in the biologization and genetization of kinship through these new reproductive technologies.

  8. On Defining Mass

    Science.gov (United States)

    Hecht, Eugene

    2011-01-01

    Though central to any pedagogical development of physics, the concept of mass is still not well understood. Properly defining mass has proven to be far more daunting than contemporary textbooks would have us believe. And yet today the origin of mass is one of the most aggressively pursued areas of research in all of physics. Much of the excitement…

  9. Integrative STEM Education Defined

    OpenAIRE

    Sanders, Mark E.

    2013-01-01

    "In operationally defining integrative STEM education, we hope to avoid the gross confusion/ambiguity associated with STEM education. Those who wish to use integrative STEM education to describe instruction must be certain that instruction is grounded in the context of technological/engineering design activity.

  10. Defining Effective Teaching

    Science.gov (United States)

    Layne, L.

    2012-01-01

    The author looks at the meaning of specific terminology commonly used in student surveys: "effective teaching." The research seeks to determine if there is a difference in how "effective teaching" is defined by those taking student surveys and those interpreting the results. To investigate this difference, a sample group of professors and students…

  11. Defining the Blue economy

    CSIR Research Space (South Africa)

    Smith-Godfrey, S

    2016-01-01

    Full Text Available MARITIME AFFAIRS: JOURNAL OF THE NATIONAL MARITIME FOUNDATION OF INDIA, 2016 http://dx.doi.org/10.1080/09733159.2016.1175131 Defining the Blue Economy S. Smith-Godfrey Council for Scientific and Industrial Research (CSIR), Pretoria, South Africa...

  12. Software Defined Cyberinfrastructure

    Energy Technology Data Exchange (ETDEWEB)

    Foster, Ian; Blaiszik, Ben; Chard, Kyle; Chard, Ryan

    2017-07-17

    Within and across thousands of science labs, researchers and students struggle to manage data produced in experiments, simulations, and analyses. Largely manual research data lifecycle management processes mean that much time is wasted, research results are often irreproducible, and data sharing and reuse remain rare. In response, we propose a new approach to data lifecycle management in which researchers are empowered to define the actions to be performed at individual storage systems when data are created or modified: actions such as analysis, transformation, copying, and publication. We term this approach software-defined cyberinfrastructure because users can implement powerful data management policies by deploying rules to local storage systems, much as software-defined networking allows users to configure networks by deploying rules to switches.We argue that this approach can enable a new class of responsive distributed storage infrastructure that will accelerate research innovation by allowing any researcher to associate data workflows with data sources, whether local or remote, for such purposes as data ingest, characterization, indexing, and sharing. We report on early experiments with this approach in the context of experimental science, in which a simple if-trigger-then-action (IFTA) notation is used to define rules.

  13. Defining Game Mechanics

    DEFF Research Database (Denmark)

    Sicart (Vila), Miguel Angel

    2008-01-01

    This article defins game mechanics in relation to rules and challenges. Game mechanics are methods invoked by agents for interacting with the game world. I apply this definition to a comparative analysis of the games Rez, Every Extend Extra and Shadow of the Colossus that will show the relevance...... of a formal definition of game mechanics. Udgivelsesdato: Dec 2008...

  14. Defining Mathematical Giftedness

    Science.gov (United States)

    Parish, Linda

    2014-01-01

    This theoretical paper outlines the process of defining "mathematical giftedness" for a present study on how primary school teaching shapes the mindsets of children who are mathematically gifted. Mathematical giftedness is not a badge of honour or some special value attributed to a child who has achieved something exceptional.…

  15. The quantitative genetics of incipient speciation: heritability and genetic correlations of skeletal traits in populations of diverging Favia fragum ecomorphs.

    Science.gov (United States)

    Carlon, David B; Budd, Ann F; Lippé, Catherine; Andrew, Rose L

    2011-12-01

    Recent speciation events provide potential opportunities to understand the microevolution of reproductive isolation. We used a marker-based approach and a common garden to estimate the additive genetic variation in skeletal traits in a system of two ecomorphs within the coral species Favia fragum: a Tall ecomorph that is a seagrass specialist, and a Short ecomorph that is most abundant on coral reefs. Considering both ecomorphs, we found significant narrow-sense heritability (h(2) ) in a suite of measurements that define corallite architecture, and could partition additive and nonadditive variation for some traits. We found positive genetic correlations for homologous height and length measurements among different types of vertical plates (costosepta) within corallites, but negative correlations between height and length within, as well as between costosepta. Within ecomorphs, h(2) estimates were generally lower, compared to the combined ecomorph analysis. Marker-based estimates of h(2) were comparable to broad-sense heritability (H) obtained from parent-offspring regressions in a common garden for most traits, and similar genetic co-variance matrices for common garden and wild populations may indicate relatively small G × E interactions. The patterns of additive genetic variation in this system invite hypotheses of divergent selection or genetic drift as potential evolutionary drivers of reproductive isolation. © 2011 The Author(s). Evolution© 2011 The Society for the Study of Evolution.

  16. Parâmetros genéticos de características reprodutivas de touros e vacas Gir leiteiro Genetic parameters for reproductive traits of dairy Gyr breed males and females

    Directory of Open Access Journals (Sweden)

    Mário Luiz Santana Júnior

    2010-08-01

    data of 7,055 females and 97 males from several Brazilian herds. Covariance components were estimated by using the restricted maximum likelihood method under animal model in univariate analyses. The model for seminal traits included the company-year-season of semen collection fixed effects, age at the collection as a covariate, linear and quadratic effects. For scrotal circumference, it was included year of birth, age class at measurement, and insemination company fixed effects. For age at first calving, it was included herd-year-season of birth fixed effects and animal and residual random effects. The heritabilities for scrotal circumference and age at first calving were, respectively, 0.37 and 0.22. The genetic trend of age at first calving was significant, with estimated value of -0.018 month/year and it shows that genetic progress in this trait practically did not occur over the studied years. The genetic correlations from bivariate analyses among scrotal circumference with volume, concentration, vigor, motility, major, minor, and total defects, number of doses, total number of feasible spermatozoid and age at first calving were 0.33, 0.22, 0.91, 0.86, -0.07, -0.03, -0.04, 0.30, 0.23 and -0.37, respectively. These results suggest improvements in reproductive efficiency of females when they are used in herds with bulls with greater scrotal circumference.

  17. Gene-environment interaction and male reproductive function

    DEFF Research Database (Denmark)

    Axelsson, Jonatan; Bonde, Jens Peter; Giwercman, Yvonne L

    2010-01-01

    of reproduction, namely environmental and lifestyle factors as the cause of sperm DNA damage. It remains to be investigated to what extent such genetic changes, by natural conception or through the use of assisted reproductive techniques, are transmitted to the next generation, thereby causing increased morbidity......As genetic factors can hardly explain the changes taking place during short time spans, environmental and lifestyle-related factors have been suggested as the causes of time-related deterioration of male reproductive function. However, considering the strong heterogeneity of male fecundity between...... and within populations, genetic variants might be important determinants of the individual susceptibility to the adverse effects of environment or lifestyle. Although the possible mechanisms of such interplay in relation to the reproductive system are largely unknown, some recent studies have indicated...

  18. Assisted reproduction: who qualifies?

    Science.gov (United States)

    deLacey, S

    1998-10-01

    Assisted reproductive technologies (ARTs) have been the focus of considerable debate in which a range of social issues has been addressed, yet the question of who is eligible for ART, who can get access, who is excluded and by what means, has received little attention in comparison with other issues. In Australia social policies presently exist in some (but not all) states which address this question, however several recently publicised cases have highlighted the need for an examination of inclusion/exclusion practices from a social justice perspective. This paper seeks to explore the issue of access and eligibility for ART with a particular interest in exposing the contradictions, inconsistencies and assumptions inherent in arguments put forward for particular inclusions and exclusions. It is my contention that social policy relating to criteria for eligibility and access to ART invests the medical profession with a gatekeeping role which holds the power to define and create different classes of women. Moreover, discourses of 'medical indication' and the 'best interests of children' intersect to inscribe a form of discursive eugenic practice which in turn sustains sexism and discrimination against childless women. Finally, this paper seeks to alert the nursing profession to requirements emerging from social policy which influence practice, interfere in client-nurse relationships, and may ultimately result in unethical conduct.

  19. Reproductive wish in transsexual men.

    Science.gov (United States)

    Wierckx, Katrien; Van Caenegem, Eva; Pennings, Guido; Elaut, Els; Dedecker, David; Van de Peer, Fleur; Weyers, Steven; De Sutter, Petra; T'Sjoen, Guy

    2012-02-01

    Hormonal therapy and sex reassignment surgery (SRS) in transsexual persons lead to an irreversible loss of their reproductive potential. The current and future technologies could create the possibility for female-to-male transsexual persons (transsexual men) to have genetically related children. However, little is known about this topic. The aim of this study is to provide information on the reproductive wishes of transsexual men after SRS. METHODS A self-constructed questionnaire was presented to 50 transsexual men in a single-center study. The majority (64%) of transsexual men were currently involved in a relationship. Eleven participants (22.0%) reported having children. For eight participants, their female partner was inseminated with donor sperm, whereas three participants gave birth before hormonal therapy and SRS. At the time of interview, more than half of the participants desired to have children (54%). There were 18 participants (37.5%) who reported that they had considered freezing their germ cells, if this technique would have been available previously. Participants without children at the time of investigation expressed this desire more often than participants with children (χ²; test: P= 0.006). Our data reveal that the majority of transsexual men desire to have children. Therefore, more attention should be paid to this topic during the diagnostic phase of transition and to the consequences for genetic parenthood after starting sex reassignment therapy.

  20. Reproductive 'surrogacy' and parental licensing.

    Science.gov (United States)

    Overall, Christine

    2015-06-01

    A serious moral weakness of reproductive 'surrogacy' is that it can be harmful to the children who are created. This article presents a proposal for mitigating this weakness. Currently, the practice of commercial 'surrogacy' operates only in the interests of the adults involved (the gestator and the commissioning individuals who employ her), not in the interests of the child who is created. Whether 'surrogacy' is seen as the purchase of a baby, the purchase of parental rights, or the purchase of reproductive labor, all three views share the same significant flaws. They endorse the transfer, for a fee, of the infant from the woman who gestated it to those who commissioned it, but without justifying such a transfer; they fail to demonstrate that the commissioners have any entitlement to the infant, or, for that matter, suitability to be the infant's parents; and they fail to take any notice of the infant's needs, interests, and wellbeing. A mere genetic connection is not enough to establish that the commissioners are entitled to receive the baby or that they are competent to raise it. Their good intentions, however caring, are not enough. Therefore, just as in the practice of adoption, there should be a formal institutionalized system for screening and licensing the prospective social parents, which would make the infant's needs, interests, and wellbeing paramount. I reply to several potential objections to this proposal, including the objection that genetic parents who raise their own child are not screened and licensed. © 2014 John Wiley & Sons Ltd.

  1. DEFINING SUCCESS IN PROJECTS

    Directory of Open Access Journals (Sweden)

    José Rodrigues de Farias Filho

    2011-05-01

    Full Text Available The Project Management Discipline has been widely used in the last years for companies around the world and these companies have been investing large amounts on surveys, training and consulting in order to get benefits for the organizations that need to create competitive advantage in the high competitive Market and to achieve their business strategy goals. Studies from the major world authors show many ways to define success at the organizations. In Brazil, the Benchmarking Study in GP from the PMI Chapters in 2009, show most studied companies don’t have a process do assess whether they are achieving the expected business goals with their investments in Project Management. This article goal is to demonstrate many ways to define success in project, which will facilitate the process to assess whether the companies are achieving these expected goals. The methodology used was a literature review, collecting publications, textbooks and documents from subject-matter-experts.

  2. Can play be defined?

    DEFF Research Database (Denmark)

    Eichberg, Henning

    2015-01-01

    Can play be defined? There is reason to raise critical questions about the established academic demand that at phenomenon – also in humanist studies – should first of all be defined, i.e. de-lineated and by neat lines limited to a “little box” that can be handled. The following chapter develops...... the critical argument against this academic technique by going back to the history of cultural anthropology of play. This history did not develop in a linear way, but by shifts between different periods of colonial and anticolonial positions, as well as between more positivistic and more relativist approaches....... The academic imperative of definition seems to be linked to the positivistic attempts – and produces sometimes monstrous definitions. Have they any philosophical value for our knowledge of what play is? Definition is not a universal instrument of knowledge-building, but a culturally specific construction...

  3. Transgenic mouse models in the study of reproduction: insights into GATA protein function.

    Science.gov (United States)

    Tevosian, Sergei G

    2014-07-01

    For the past 2 decades, transgenic technology in mice has allowed for an unprecedented insight into the transcriptional control of reproductive development and function. The key factor among the mouse genetic tools that made this rapid advance possible is a conditional transgenic approach, a particularly versatile method of creating gene deletions and substitutions in the mouse genome. A centerpiece of this strategy is an enzyme, Cre recombinase, which is expressed from defined DNA regulatory elements that are active in the tissue of choice. The regulatory DNA element (either genetically engineered or natural) assures Cre expression only in predetermined cell types, leading to the guided deletion of genetically modified (flanked by loxP or 'floxed' by loxP) gene loci. This review summarizes and compares the studies in which genes encoding GATA family transcription factors were targeted either globally or by Cre recombinases active in the somatic cells of ovaries and testes. The conditional gene loss experiments require detailed knowledge of the spatial and temporal expression of Cre activity, and the challenges in interpreting the outcomes are highlighted. These studies also expose the complexity of GATA-dependent regulation of gonadal gene expression and suggest that gene function is highly context dependent. © 2014 Society for Reproduction and Fertility.

  4. Defining local food

    DEFF Research Database (Denmark)

    Eriksen, Safania Normann

    2013-01-01

    Despite evolving local food research, there is no consistent definition of “local food.” Various understandings are utilized, which have resulted in a diverse landscape of meaning. The main purpose of this paper is to examine how researchers within the local food systems literature define local...... food, and how these definitions can be used as a starting point to identify a new taxonomy of local food based on three domains of proximity....

  5. Virtual communities created around reproductive donation: simulation of human contact?

    Directory of Open Access Journals (Sweden)

    María Isabel Jociles Rubio

    2017-09-01

    Full Text Available There is a large online presence of Spanish women participating in reproductive donation, creatiing different types of families through this process. This article addresses the following two questions regarding this phenomenon: First, why are assisted reproduction communities composed mainly, if not solely, of female participants? Second, what kind of relationships and roles do these communities prompt among their members? The paper then prsents hypotheses exploring the emergence and continuing existence of these online communities in the Spanish context. This context is defined as one with increasing participation in assisted reproduction, yet lacking in resources to support women throughout the assisted reproduction process.

  6. Reproductive Disorders in Parrots.

    Science.gov (United States)

    Scagnelli, Alyssa M; Tully, Thomas N

    2017-05-01

    Disease affecting the reproductive tract of the companion parrot is often impacted by physiologic and environmental stimuli. In conjunction with appropriate medical management, some birds diagnosed with reproductive disorders may be successfully treated. Once the bird is diagnosed with a disease condition affecting the reproductive tract, therapeutic measures are focused on stabilizing and supporting the patient, and surgical intervention is required only in the most severe cases. Hormonal therapy with synthetic, long-acting GnRH agonists should be considered for chronic reproductive disease conditions in which decreasing ovarian activity can help alleviate certain disease processes. Copyright © 2016 Elsevier Inc. All rights reserved.

  7. Reproductive and developmental toxicology

    National Research Council Canada - National Science Library

    Gupta, Ramesh C

    2011-01-01

    .... Reproductive and Developmental Toxicology is a comprehensive and authoritative resource providing the latest literature enriched with relevant references describing every aspect of this area of science...

  8. Defining periodontal health

    Science.gov (United States)

    2015-01-01

    Assessment of the periodontium has relied exclusively on a variety of physical measurements (e.g., attachment level, probing depth, bone loss, mobility, recession, degree of inflammation, etc.) in relation to various case definitions of periodontal disease. Periodontal health was often an afterthought and was simply defined as the absence of the signs and symptoms of a periodontal disease. Accordingly, these strict and sometimes disparate definitions of periodontal disease have resulted in an idealistic requirement of a pristine periodontium for periodontal health, which makes us all diseased in one way or another. Furthermore, the consequence of not having a realistic definition of health has resulted in potentially questionable recommendations. The aim of this manuscript was to assess the biological, environmental, sociological, economic, educational and psychological relationships that are germane to constructing a paradigm that defines periodontal health using a modified wellness model. The paradigm includes four cardinal characteristics, i.e., 1) a functional dentition, 2) the painless function of a dentition, 3) the stability of the periodontal attachment apparatus, and 4) the psychological and social well-being of the individual. Finally, strategies and policies that advocate periodontal health were appraised. I'm not sick but I'm not well, and it's a sin to live so well. Flagpole Sitta, Harvey Danger PMID:26390888

  9. Gene-environment interaction and male reproductive function

    Science.gov (United States)

    Axelsson, Jonatan; Bonde, Jens Peter; Giwercman, Yvonne L.; Rylander, Lars; Giwercman, Aleksander

    2010-01-01

    As genetic factors can hardly explain the changes taking place during short time spans, environmental and lifestyle-related factors have been suggested as the causes of time-related deterioration of male reproductive function. However, considering the strong heterogeneity of male fecundity between and within populations, genetic variants might be important determinants of the individual susceptibility to the adverse effects of environment or lifestyle. Although the possible mechanisms of such interplay in relation to the reproductive system are largely unknown, some recent studies have indicated that specific genotypes may confer a larger risk of male reproductive disorders following certain exposures. This paper presents a critical review of animal and human evidence on how genes may modify environmental effects on male reproductive function. Some examples have been found that support this mechanism, but the number of studies is still limited. This type of interaction studies may improve our understanding of normal physiology and help us to identify the risk factors to male reproductive malfunction. We also shortly discuss other aspects of gene-environment interaction specifically associated with the issue of reproduction, namely environmental and lifestyle factors as the cause of sperm DNA damage. It remains to be investigated to what extent such genetic changes, by natural conception or through the use of assisted reproductive techniques, are transmitted to the next generation, thereby causing increased morbidity in the offspring. PMID:20348940

  10. Reproductive strategies and isolation-by-demography in a marine clonal plant along an eutrophication gradient.

    Science.gov (United States)

    Oliva, Silvia; Romero, Javier; Pérez, Marta; Manent, Pablo; Mascaró, Oriol; Serrão, Ester A; Coelho, Nelson; Alberto, Filipe

    2014-12-01

    Genetic diversity in clonal organisms includes two distinct components, (i) the diversity of genotypes or clones (i.e. genotypic richness) in a population and (ii) that of the alleles (i.e. allelic and gene diversity within populations, and differentiation between populations). We investigated how population differentiation and genotypic components are associated across a gradient of eutrophication in a clonal marine plant. To that end, we combined direct measurements of sexual allocation (i.e. flower and seed counts) and genotypic analyses, which are used as an estimator of effective sexual reproduction across multiple generations. Genetic differentiation across sites was also modelled according to a hypothesis here defined as isolation-by-demography, in which we use population-specific factors, genotypic richness and eutrophication that are hypothesized to affect the source-sink dynamics and thus influence the genetic differentiation between a pair of populations. Eutrophic populations exhibited lower genotypic richness, in agreement with lower direct measurements of sexual allocation and contemporaneous gene flow. Genetic differentiation, while not explained by distance, was best predicted by genotypic richness and habitat quality. A multiple regression model using these two predictors was considered the best model (R(2) = 0.43). In this study, the relationship between environment and effective sexual-asexual balance is not simply (linearly) predicted by direct measurements of sexual allocation. Our results indicate that population-specific factors and the isolation-by-demography model should be used more often to understand genetic differentiation. © 2014 John Wiley & Sons Ltd.

  11. Reproductive Physiology of Marsupials

    Science.gov (United States)

    Sharman, G. B.

    1970-01-01

    Describes some unique features of marsupial reproduction which include (1) chromosomal sex determination, (2) reproductive system, (3) birth, (4) location, and (5) embryonic diapause. These features suggest that viviparity evolved separately in eutherian and marsupial stocks after their derivation from a common oviparous ancestor. Bibliography.…

  12. Multichannel Sound Reproduction

    Science.gov (United States)

    Pulkki, Ville

    Spatial reproduction of sound is a field in which the spatial attributes of a real recording room or a virtual space are reproduced to the listener. Spatial attributes include for example directions of sound sources, directions of reflections and envelopment by reverberation. Many such systems employ more than two loudspeakers to create virtual sources. This is called multichannel sound or spatial sound reproduction.

  13. The Reproduction of Intelligence

    Science.gov (United States)

    Meisenberg, Gerhard

    2010-01-01

    Although a negative relationship between fertility and education has been described consistently in most countries of the world, less is known about the relationship between intelligence and reproductive outcomes. Also the paths through which intelligence influences reproductive outcomes are uncertain. The present study uses the NLSY79 to analyze…

  14. DEP and AFO regulate reproductive habit in rice.

    Directory of Open Access Journals (Sweden)

    Kejian Wang

    2010-01-01

    Full Text Available Sexual reproduction is essential for the life cycle of most angiosperms. However, pseudovivipary is an important reproductive strategy in some grasses. In this mode of reproduction, asexual propagules are produced in place of sexual reproductive structures. However, the molecular mechanism of pseudovivipary still remains a mystery. In this work, we found three naturally occurring mutants in rice, namely, phoenix (pho, degenerative palea (dep, and abnormal floral organs (afo. Genetic analysis of them indicated that the stable pseudovivipary mutant pho was a double mutant containing both a Mendelian mutation in DEP and a non-Mendelian mutation in AFO. Further map-based cloning and microarray analysis revealed that dep mutant was caused by a genetic alteration in OsMADS15 while afo was caused by an epigenetic mutation in OsMADS1. Thus, OsMADS1 and OsMADS15 are both required to ensure sexual reproduction in rice and mutations of them lead to the switch of reproductive habit from sexual to asexual in rice. For the first time, our results reveal two regulators for sexual and asexual reproduction modes in flowering plants. In addition, our findings also make it possible to manipulate the reproductive strategy of plants, at least in rice.

  15. Reproductive management of captive psittacine collections.

    Science.gov (United States)

    Styles, Darrel K

    2002-09-01

    This discussion is intended to stimulate the reader to further investigate avicultural husbandry techniques, flock management procedures, and avian behavior. It is not intended to address in detail all the steps necessary to produce successful reproduction in the aviary, but to encourage more involvement in the study of aviculture and the captive psittacine behaviors. Veterinarians are encouraged to ally themselves with professional or skilled aviculturists and participate in the noble endeavor of aviculture. Only then will the clinician understand the miracle of reproduction beyond that defined by a textbook.

  16. APPLICATION OF GENETIC ALGORITHMS FOR ROBUST PARAMETER OPTIMIZATION

    Directory of Open Access Journals (Sweden)

    N. Belavendram

    2010-12-01

    Full Text Available Parameter optimization can be achieved by many methods such as Monte-Carlo, full, and fractional factorial designs. Genetic algorithms (GA are fairly recent in this respect but afford a novel method of parameter optimization. In GA, there is an initial pool of individuals each with its own specific phenotypic trait expressed as a ‘genetic chromosome’. Different genes enable individuals with different fitness levels to reproduce according to natural reproductive gene theory. This reproduction is established in terms of selection, crossover and mutation of reproducing genes. The resulting child generation of individuals has a better fitness level akin to natural selection, namely evolution. Populations evolve towards the fittest individuals. Such a mechanism has a parallel application in parameter optimization. Factors in a parameter design can be expressed as a genetic analogue in a pool of sub-optimal random solutions. Allowing this pool of sub-optimal solutions to evolve over several generations produces fitter generations converging to a pre-defined engineering optimum. In this paper, a genetic algorithm is used to study a seven factor non-linear equation for a Wheatstone bridge as the equation to be optimized. A comparison of the full factorial design against a GA method shows that the GA method is about 1200 times faster in finding a comparable solution.

  17. Implementing Software Defined Radio

    CERN Document Server

    Grayver, Eugene

    2013-01-01

    Software Defined Radio makes wireless communications easier, more efficient, and more reliable. This book bridges the gap between academic research and practical implementation. When beginning a project, practicing engineers, technical managers, and graduate students can save countless hours by considering the concepts presented in these pages. The author covers the myriad options and trade-offs available when selecting an appropriate hardware architecture. As demonstrated here, the choice between hardware- and software-centric architecture can mean the difference between meeting an aggressive schedule and bogging down in endless design iterations. Because of the author’s experience overseeing dozens of failed and successful developments, he is able to present many real-life examples. Some of the key concepts covered are: Choosing the right architecture for the market – laboratory, military, or commercial Hardware platforms – FPGAs, GPPs, specialized and hybrid devices Standardization efforts to ens...

  18. Defining critical thoughts.

    Science.gov (United States)

    Lovatt, Abbie

    2014-05-01

    Nursing education has long struggled to define critical thinking and explain how the process of critical thinking fits into the context of nursing. Despite this long time struggle, nurses and nurse educators continue to strive to foster critical thinking skills in nursing students as intuitively most nurses believe that critical thinking is necessary to function competently in the workplace. This article explores the most recent work of Dr. Stephen Brookfield and ties the concepts which are explored in Brookfield's work to nursing practice. Brookfield identifies that learners understand the meaning of critical thinking the best when the process is first demonstrated. Role modeling is a method educators can use to demonstrate critical thinking and is a strategy which nurses often use in the clinical area to train and mentor new nursing staff. Although it is not a new strategy in nursing education, it is a valuable strategy to engage learners in critical thinking activities. Copyright © 2013 Elsevier Ltd. All rights reserved.

  19. Defining "intermittent UVR exposure"

    DEFF Research Database (Denmark)

    Bodekær, Mette; Philipsen, Peter Alshede; Petersen, Bibi Øager

    2016-01-01

    Background: Cutaneous malignant melanoma (CMM) has been associated with “intermittent UVR exposure”, which in previous studies has mainly been assessed by retrospective questionnaire data. Further, there is no uniform definition of the term “intermittent UVR exposure”. Objectives: We aimed...... to define and quantify “intermittent UVR exposure” by an objective measure. Methods: A broad study population of adults and children had data collected during a summer period. Data were personal UVR dosimetry measurements, from which the number of “intermittent days” was derived, sun behaviour diaries...... and retrospective questionnaires. Two definitions of intermittent UVR exposure were tested: (1) days when UVR dose exceeded 3 times individual average daily UVR dose, and (2) days when UVR dose exceeded individual constitutive skin type. Measures of nevi and lentigines were used as surrogates for CMM. Results...

  20. Software Defined Networking

    DEFF Research Database (Denmark)

    Caba, Cosmin Marius

    resources are limited. Hence, to counteract this trend, current QoS mechanisms must become simpler to deploy and operate, in order to motivate NSPs to employ QoS techniques instead of overprovisioning. Software Defined Networking (SDN) represents a paradigm shift in the way telecommunication and data...... networks are designed and managed. This thesis argues that SDN can greatly simplify QoS provisioning in communication networks, and even improve QoS in various ways. To this end, the impact of SDN on QoS is assessed from both a network performance perspective (e.g. bandwidth, delay), and also from a more...... generic perspective (e.g. service provisioning speed, resources availability). As a result, new mechanisms for providing QoS are proposed, solutions for SDN-specific QoS challenges are designed and tested, and new network management concepts are prototyped, all aiming to improve QoS for network services...

  1. Parámetros Genéticos para Algunas Características Productivas y Reproductivas en un Hato Holstein del Oriente Antioqueño, Colombia Genetic Parameters for Some Productive and Reproductive Traits in a Dairy Herd in Eastern Antioquia, Colombia

    Directory of Open Access Journals (Sweden)

    Katerinne Quiroz Osorio

    2011-12-01

    Full Text Available La edad y el peso al primer parto y otros caracteres productivos y reproductivos son importantes porque determinan el desempeño futuro de las vacas lecheras, su análisis permite definir metas relacionadas con el inicio de la vida productiva de las mismas, influyendo directamente en el costo del periodo de crecimiento y desarrollo. En esta investigación se estimaron las heredabilidades (h2 y algunas correlaciones genéticas y fenotípicas para edad y peso al primer servicio, edad y peso al servicio fértil, producción en primera y segunda lactancia y algunas otras características relacionadas con el desempeño general de las vacas durante su vida. Fueron analizadas 928 lactancias de 184 vacas de la raza Holstein nacidas entre 1985 y 2006 en un hato lechero del departamento de Antioquia. Los componentes de varianza fueron estimados mediante análisis univariados con la metodología de máxima verosimilitud restricta libre de derivadas y las correlaciones se estimaron directamente con la información fenotípica y los valores genéticos estimados. Se utilizó el programa SAS 9,0 para la edición de los datos y los análisis estadísticos y el software MTDFREML para el análisis genético. No se encontró efecto significativo (P>0,05 de la edad y peso al primer servicio con producción de leche en primera y segunda lactancia, ni con caracteres reproductivos, la edad y el peso al primer servicio fértil tuvieron efecto altamente significativo (PThe age and weight at first calving and other productive and reproductive traits are decisive because are important for the future performance of dairy cows, their analysis allows to define some goals related to the start of productive life of those, influencing direct economic cost of the period of growth and development. In this research, were estimated the heritability (h2 and some genetic and phenotypic correlations of age and weight at first service, age and weight at fertile service, milk yield at

  2. Reproductive health and justice.

    Science.gov (United States)

    Petchesky, R

    1993-01-01

    This article was based on a speech given in Rio de Janeiro in January 1994 at the Reproductive Health and Justice Conference. Questions were raised about the universality of reproductive rights. The suggestion was that Western norms and principles subordinated Southern meanings. A women's health advocate in Nigeria believed that poor and oppressed women were not able to consider limiting family size or to consider reproductive health when the critical concerns were health care, education, livelihood, and basic needs. Rights and needs go together. Reproductive and sexual rights must be understood in terms of social, economic, and political enabling conditions. The respect for women's bodily integrity and reproductive and sexual well-being was viewed as integral to being an effective social and political agent. Women group's have carved out distinct concepts of work, economic resources, education, and political empowerment. The differences in experiences between the North and the South must not be used to diminish the impact of population control forces and fundamentalists. Reproductive rights means giving women the power to make informed decisions about individual fertility, childrearing, and health and sexual activity and means the resources to make decisions effectively and safely. The origin of the definition must not be confused with the process of debate. Rights can be approached either as legal and formal entities and/or as political claims to change existing power structures. Reproductive rights when construed to be liberties or choices were viewed as ineffectual; the focus must be on gender, class, culture, ethnicity, and national needs. Social rights must be incorporated in the concept of reproductive rights and as such challenge structural adjustment programs that reduce expenditures on health and social services. Terminology that focused on "reproduction" obscured the larger focus on personal health and well being. The principles of reproductive rights

  3. Long-term impacts of poaching on relatedness, stress physiology, and reproductive output of adult female african elephants.

    Science.gov (United States)

    Gobush, K S; Mutayoba, B M; Wasser, S K

    2008-12-01

    Widespread poaching prior to the 1989 ivory ban greatly altered the demographic structure of matrilineal African elephant (Loxodonta africana) family groups in many populations by decreasing the number of old, adult females. We assessed the long-term impacts of poaching by investigating genetic, physiological, and reproductive correlates of a disturbed social structure resulting from heavy poaching of an African elephant population in Mikumi National Park, Tanzania, prior to 1989. We examined fecal glucocorticoid levels and reproductive output among 218 adult female elephants from 109 groups differing in size, age structure, and average genetic relatedness over 25 months from 2003 to 2005. The distribution in group size has changed little since 1989, but the number of families with tusked old matriarchs has increased by 14.2%. Females from groups that lacked an old matriarch, first-order adult relatives, and strong social bonds had significantly higher fecal glucocorticoid values than those from groups with these features (all females R(2)= 0.31; females in multiadult groups R(2)= 0.46). Females that frequented isolated areas with historically high poaching risk had higher fecal glucocorticoid values than those in low poaching risk areas. Females with weak bonds and low group relatedness had significantly lower reproductive output (R(2)[U]=0.21). Females from disrupted groups, defined as having observed average group relatedness 1 SD below the expected mean for a simulated unpoached family, had significantly lower reproductive output than females from intact groups, despite many being in their reproductive prime. These results suggest that long-term negative impacts from poaching of old, related matriarchs have persisted among adult female elephants 1.5 decades after the 1989 ivory ban was implemented.

  4. Defining a New Pathway for Family Planning in Africa After 2014

    African Journals Online (AJOL)

    AJRH Managing Editor

    Defining a New Pathway for Family Planning in Africa After 2014. Friday Okonofua. Editor, African Journal of Reproductive Health. The International Conference on Population and. Development (ICPD) was a landmark event that shifted emphasis from concerns with population growth to commitment to reproductive equity,.

  5. The future of human reproduction

    National Research Council Canada - National Science Library

    Overall, Christine

    1989-01-01

    ... Contradictions III SOCIAL POLICY QUESTIONS Pregnancy as Justification for Loss of Juridical Autonomy Sanda Rodgers 174 Prenatal Diagnosis: Reproductive Choice? Reproductive Control? Abby Lippman ...

  6. Genomic Conflicts that Cause Pollen Mortality and Raise Reproductive Barriers in Arabidopsis thaliana

    OpenAIRE

    Simon, Matthieu; Durand, St?phanie; Pluta, Natacha; Gobron, Nicolas; Botran, Lucy; Ricou, Anthony; Camilleri, Christine; Budar, Fran?oise

    2016-01-01

    Species differentiation and the underlying genetics of reproductive isolation are central topics in evolutionary biology. Hybrid sterility is one kind of reproductive barrier that can lead to differentiation between species. Here, we analyze the complex genetic basis of the intraspecific hybrid male sterility that occurs in the offspring of two distant natural strains of Arabidopsis thaliana, Shahdara and Mr-0, with Shahdara as the female parent. Using both classical and quantitative genetic ...

  7. The ethics of human reproductive cloning.

    Science.gov (United States)

    Strong, Carson

    2005-03-01

    This article addresses the question of whether human reproductive cloning could be ethically justifiable in at least some cases involving infertile couples who would choose cloning as a way to have a genetically related child. At present, the risk of congenital anomalies constitutes a compelling argument against human reproductive cloning. The article explores whether reproductive cloning could be ethically justifiable if, at some future time, cloning becomes possible without an elevated risk of anomalies. It is argued that freedom to use cloning is a form of procreative freedom and, as such, deserves respect. All of the objections that have been raised against human reproductive cloning fall under three main categories: those that appeal to the interests of the child, those based on consequences for society, and those arising from teleological views. Objections that appeal to the child's interests are, in turn, of two main kinds: consequentialist and deontological. All of these types of objections are examined, and it is found that each involves serious problems that prevent it from being a reasonable objection in the context of the infertility cases considered. It is concluded that human reproductive cloning would be ethically justifiable in at least some cases involving infertile couples, provided that it could be performed without an elevated risk of anomalies.

  8. Defining "intermittent UVR exposure".

    Science.gov (United States)

    Bodekær, M; Philipsen, P A; Petersen, B; Heydenreich, J; Wulf, H C

    2016-08-31

    Cutaneous malignant melanoma (CMM) has been associated with "intermittent UVR exposure", which in previous studies has mainly been assessed by retrospective questionnaire data. Further, there is no uniform definition of the term "intermittent UVR exposure". We aimed to define and quantify "intermittent UVR exposure" by an objective measure. A broad study population of adults and children had data collected during a summer period. Data were personal UVR dosimetry measurements, from which the number of "intermittent days" was derived, sun behaviour diaries and retrospective questionnaires. Two definitions of intermittent UVR exposure were tested: (1) days when UVR dose exceeded 3 times individual average daily UVR dose, and (2) days when UVR dose exceeded individual constitutive skin type. Measures of nevi and lentigines were used as surrogates for CMM. Using the first definition based solely on UVR dosimetry data we found 1241 "intermittent days" out of a total of 17 277 days (7.2%) among 148 participants. The numbers for nevi and lentigo density were significantly predicted by the number of intermittent days (R(2) = 0.15 and R(2) = 0.40, p intermittent UVR exposure. This measure may provide a better prediction of solar skin damage and CMM than retrospective questionnaire data.

  9. Genetic GIScience

    DEFF Research Database (Denmark)

    Jacquez, Geoffrey; Sabel, Clive E; Shi, Chen

    2015-01-01

    The exposome, defined as the totality of an individual's exposures over the life course, is a seminal concept in the environmental health sciences. Although inherently geographic, the exposome as yet is unfamiliar to many geographers. This article proposes a place-based synthesis, genetic...... geographic information science (genetic GIScience), that is founded on the exposome, genome+, and behavome. It provides an improved understanding of human health in relation to biology (the genome+), environmental exposures (the exposome), and their social, societal, and behavioral determinants (the behavome......). Genetic GIScience poses three key needs: first, a mathematical foundation for emergent theory; second, process-based models that bridge biological and geographic scales; third, biologically plausible estimates of space?time disease lags. Compartmental models are a possible solution; this article develops...

  10. Gene-environment interaction and male reproductive function

    DEFF Research Database (Denmark)

    Axelsson, Jonatan; Bonde, Jens Peter; Giwercman, Yvonne L

    2010-01-01

    As genetic factors can hardly explain the changes taking place during short time spans, environmental and lifestyle-related factors have been suggested as the causes of time-related deterioration of male reproductive function. However, considering the strong heterogeneity of male fecundity between...... and within populations, genetic variants might be important determinants of the individual susceptibility to the adverse effects of environment or lifestyle. Although the possible mechanisms of such interplay in relation to the reproductive system are largely unknown, some recent studies have indicated...... that specific genotypes may confer a larger risk of male reproductive disorders following certain exposures. This paper presents a critical review of animal and human evidence on how genes may modify environmental effects on male reproductive function. Some examples have been found that support this mechanism...

  11. The politics of reproduction.

    Science.gov (United States)

    Ginsburg, F; Rapp, R

    1991-01-01

    The topic of human reproduction encompasses events throughout the human and especially female life-cycle as well as ideas and practices surrounding fertility, birth, and child care. Most of the scholarship on the subject, up through the 1960s, was based on cross-cultural surveys focused on the beliefs, norms, and values surrounding reproductive behaviors. Multiple methodologies and subspecialties, and fields like social history, human biology, and demography were utilized for the analysis. The concept of the politics of reproduction synthesizes local and global perspectives. The themes investigated include: the concept of reproduction, population control, and the internationalization of state and market interests (new reproductive technologies); social movements and contested domains; medicalization and its discontents; fertility and its control; adolescence and teen pregnancy; birth; birth attendants; the construction of infancy and the politics of child survival; rethinking the demographic transition; networks of nurturance; and meanings of menopause. The medicalization of reproduction is a central issue of studies of birth, midwifery, infertility, and reproductive technologies. Scholars have also analyzed different parts of the female life-cycle as medical problems. Other issues worth analysis include the internationalization of adoption and child care workers; the crisis of infertility of low-income and minority women who are not candidates for expensive reproductive technologies; the concerns of women at high risk for HIV whose cultural status depends on their fertility; questions of reproduction concerning, lesbians and gay men (artificial insemination and discrimination in child rearing); the study of menopause; and fatherhood. New discourse analysis is used to analyze state eugenic policies; conflicts over Western neocolonial influences in which women's status as childbearers represent nationalist interests; fundamentalist attacks on abortion rights; and

  12. Love Influences Reproductive Success in Humans

    Science.gov (United States)

    Sorokowski, Piotr; Sorokowska, Agnieszka; Butovskaya, Marina; Karwowski, Maciej; Groyecka, Agata; Wojciszke, Bogdan; Pawłowski, Bogusław

    2017-01-01

    As love seems to be universal, researchers have attempted to find its biological basis. However, no studies till date have shown its direct association with reproductive success, which is broadly known to be a good measure of fitness. Here, we show links between love, as defined by the Sternberg Triangular Theory of Love, and reproductive success among the Hadza—traditional hunter-gatherer population. We found that commitment and reproductive success were positively and consistently related in both sexes, with number of children showing negative and positive associations with intimacy and passion, respectively, only among women. Our study may shed new light on the meaning of love in humans' evolutionary past, especially in traditional hunter-gatherer societies in which individuals, not their parents, were responsible for partner choice. We suggest that passion and commitment may be the key factors that increase fitness, and therefore, that selection promoted love in human evolution. However, further studies in this area are recommended. PMID:29209243

  13. Discarded human spermatozoa, eggs and embryos for personnel training and practice in assisted reproduction.

    Science.gov (United States)

    Heng, Boon Chin

    2007-12-01

    An ethical issue that has been largely overlooked is the use of discarded human gametes and embryos for personnel training in clinical assisted reproduction technology, e.g. intracytoplasmic sperm injection and preimplantation genetic diagnosis. Unlike experimental research for generating peer-reviewed journal publications and intellectual property, there is no similar paper trail or smoking gun if human gametes and embryos are utilized solely for personnel training without the patient's knowledge and consent. For many assisted reproduction laboratories in private practice that are not affiliated with research or academic institutions, there are often difficulties in procuring animal material for personnel training. In contrast, discarded human gametes and embryos are readily available and can be convenient for training inexperienced personnel in assisted reproduction techniques. Very often, only verbal consent is obtained from patients, without written documentation, and this situation can potentially lead to abuse. For example, fertility clinics and laboratories may conduct training courses and workshops for generating additional income and revenue; and there is a possibility of discarded human material being utilized for such profit-making ventures without patients' prior knowledge. Hence, it is the moral duty and obligation of international professional bodies to advocate and draft clearly defined regulatory guidelines and legislative framework for this purpose.

  14. Cod reproductive ecology

    DEFF Research Database (Denmark)

    Røjbek, Maria

    reproduction. The overall objective of the thesis is to investigate the role of lipids in reproduction of cod (Gadus morhua) in the Central Baltic Sea. The first objective is to examine the seasonal variation in content of lipid and EFA in whole prey species of cod (Paper I). The second objective...... is to investigate the variation in lipid content, EFA and antioxidants of female Baltic cod gonads and livers during the reproductive cycle (Paper II) and to examine whether there is a deficiency in lipid energy and dietary EFA that could explain the delayed spawning time observed in the Baltic cod (Paper III...

  15. On defining dietary fibre.

    Science.gov (United States)

    DeVries, Jonathan W

    2003-02-01

    Establishing a definition for dietary fibre has historically been a balance between nutrition knowledge and analytical method capabilities. While the most widely accepted physiologically-based definitions have generally been accurate in defining the dietary fibre in foods, scientists and regulators have tended, in practice, to rely on analytical procedures as the definitional basis in fact. As a result, incongruities between theory and practice have resulted in confusion regarding the components that make up dietary fibre. In November 1998 the president of the American Association of Cereal Chemists (AACC) appointed an expert scientific review committee and charged it with the task of reviewing and, if necessary, updating the definition of dietary fibre. The committee was further charged with assessing the state of analytical methodology and making recommendations relevant to the updated definition. After due deliberation, an updated definition of dietary fibre was delivered to the AACC Board of Directors for consideration and adoption (Anon, 2000; Jones 2000b). The updated definition includes the same food components as the historical working definition used for approximately 30 years (a very important point, considering that the majority of the research of the past 30 years delineating the positive health effects of dietary fibre is based on that working definition). However, the updated definition more clearly delineates the make-up of dietary fibre and its physiological functionality. As a result, relatively few changes will be necessary in analytical methodology. Current methodologies, in particular AACC-approved method of analysis 32-05 (Grami, 2000), Association of Official Analytical Chemists' official method of analysis 985.29 (Horwitz, 2000a) or AACC 32-07 (Grami, 2000) Association of Official Analytical Chemists 991.43 (Horwitz, 2000a) will continue to be sufficient and used for most foods. A small number of additional methods will be necessary to

  16. Role of leptin in reproduction.

    Science.gov (United States)

    Bajari, Tarek M; Nimpf, Johannes; Schneider, Wolfgang J

    2004-06-01

    This article focuses on recently gained knowledge concerning the different emerging aspects of the role of leptin in reproduction, through both its central hypothalamus-mediated and peripheral actions. As delineated in murine models, STAT3-independent signals triggered by the leptin receptor are clearly important in fertility, and candidate pathways such as those via phosphatidylinositol-3 kinase and extracellular signal-related kinase are implicated in leptin-regulated cascades. Another aspect whose importance has recently been revealed is that of the bioavailability of leptin in general, and the fate and action of carrier-bound versus free leptin at central and peripheral sites in particular. Besides the well-established role of leptin in the control of appetite and energy expenditure in humans and animals, evidence for a major involvement of the hormone in the function of the reproductive system is rapidly accumulating through physiological and molecular genetic approaches. Powerful animal models that facilitate the dissection of increasingly complex pathways, together with detailed studies in man, will soon delineate in detail the diverse roles of leptin in biological regulation. The development of therapeutic agents primarily directed against obesity must therefore take into consideration the consequences of treatment not only on the amelioration of leptin resistance, but also on the bioactivity of leptin in the context of growth, glucose homeostasis, and last but not least, fertility.

  17. Crane reproductive physiology and conservation

    Science.gov (United States)

    Gee, G.F.

    1983-01-01

    Some unique features of crane reproduction, management, and conservation are described. Because cranes are sexually monomorphic, sexing is difficult and must be accomplished using behavior, laparoscopy, cloacal examination, genetic techniques, or fecal steroid analysis. Although husbandry techniques for cranes are similar to those used with other nondomestic birds, a number of basic characteristics, such as extreme aggressiveness, imprinting by the crane chick on man, a delayed molt in the immature crane, delayed sexual maturity, and infertility, pose special problems for the propagator. Artificial insemination is a practical solution to crane infertility. Vigorous captive management and propagation efforts must become increasingly important if several endangered crane species are to survive the continuing decline in wild populations. The ultimate goal is the restoration of suitable habitat and sustainable native populations.

  18. Talking Glossary of Genetic Terms

    Science.gov (United States)

    ... Y Z Test Your Knowledge Talking Glossary of Genetic Terms Designed to help learners at any level ... in a reference paper. The Talking Glossary of Genetic Terms The Human Genome Defined by Professionals at ...

  19. Sexual selection leads to a tenfold difference in reproductive success of alternative reproductive tactics in male Atlantic salmon

    Science.gov (United States)

    Tentelier, Cédric; Lepais, Olivier; Larranaga, Nicolas; Manicki, Aurélie; Lange, Frédéric; Rives, Jacques

    2016-06-01

    The precocious maturation of some male Atlantic salmon ( Salmo salar L.) has become a textbook example of alternative mating tactics, but the only estimates of reproductive success available so far are either the collective contribution of precocious males to reproduction in the wild or individual reproductive success in oversimplified experimental conditions. Using genetic parentage analysis on anadromous and precocious potential spawners and their offspring, we quantified components of individual reproductive success of both tactics in a natural population. On average, precocious males produced 2.24 (variance 67.62) offspring, against 27.17 (3080) for anadromous males. For both tactics, most of the variance in reproductive success was due to mating success, with 83 % of precocious males having no mate, against 50 % for anadromous males. Body size increased reproductive success of anadromous males and tended to decrease precocious males' reproductive success. Although these results do not solve the coexistence of alternative reproductive tactics (ARTs) in Atlantic salmon, their inclusion in comprehensive models of lifetime reproductive success should shed light on the evolution of precocious maturation in Atlantic salmon and its effect on the selection of phenotypic traits.

  20. Reproductive prognosis in endometriosis

    DEFF Research Database (Denmark)

    Hjordt Hansen, Maj V; Dalsgaard, Torur; Hartwell, Dorthe

    2014-01-01

    OBJECTIVE: To assess the reproductive long-term prognosis of women with and without endometriosis, to explore changes over time, and to quantify the contribution of artificial reproductive techniques. DESIGN: Cohort study. SETTING: Denmark 1977-2009. SAMPLE: Data retrieved from four national...... registries. Among 15-49-year-old women during the period 1977-82, 24 667 were diagnosed with endometriosis and 98 668 (1:4) women without endometriosis were age-matched. METHODS: To assess long-term reproductive prognosis, all pregnancy outcomes were identified among the women with and without endometriosis......, but this was restricted to pregnancies from assisted reproduction. CONCLUSION: Women with endometriosis have slightly fewer children, but this lessened over time due to artificially conceived pregnancies. The risk for miscarriages and ectopic pregnancies was increased compared with women without the disease....

  1. Selective Reproductive Technologies

    DEFF Research Database (Denmark)

    Gammeltoft, Tine; Wahlberg, Ayo

    2014-01-01

    From a historical perspective, selective reproduction is nothing new. Infanticide, abandonment, and selective neglect of children have a long history, and the widespread deployment of sterilization and forced abortion in the twentieth century has been well documented. Yet in recent decades...... selective reproduction has been placed under the aegis of science and expertise in novel ways. New laboratory and clinical techniques allow for the selective fertilization of gametes, implantation of embryos, or abortion of fetuses. Although they will often overlap with assisted reproductive technologies...... (ARTs), what we term selective reproductive technologies (SRTs) are of a more specific nature: Rather than aiming to overcome infertility, they are used to prevent or allow the birth of certain kinds of children. This review highlights anthropological research into SRTs in different parts of the world...

  2. Reproductive and developmental toxicology

    National Research Council Canada - National Science Library

    Gupta, Ramesh C

    2011-01-01

    .... With a special focus on placental toxicity, this book is the only available reference to connect the three key risk stages, and is the only resource to include reproductive and developmental toxicity in domestic animals, fish, and wildlife.

  3. Reproductive data for groundfish

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — The ROCKFISH database houses data from rockfish species collected by the SWFSC FED along the California coast as part of a reproductive study originating in the...

  4. Reproductive Parameters of the Dogo Argentino Bitch

    Directory of Open Access Journals (Sweden)

    Marina Caffaratti

    2013-01-01

    Full Text Available The Dogo Argentino (DA is the first and only breed from Argentina recognized worldwide. Although its morphologic features have been well established, its normal reproductive parameters are not clearly known. The aim of this study was to determine the main DA bitch reproductive parameters. One hundred and forty-nine surveys were obtained from breeders from Córdoba province, Argentina: one for each intact DA bitch from 1 to 14 years old. The DA bitch reached puberty at an average of 8.93 months. The mean duration of vulval bleeding found in this study was 11.11 days. The clinical signs characteristic for proestrous-estrous were vulval edema (89.93%, bleeding during the time of mating (32.21%, holding the tail to the side (95.30%, and docility during mating (85.91%. DA bitches had a whelping rate of 84%. Out of 299 pregnancies, 89.30% exhibited a normal parturition, 6.69% presented dystocia, 2.68% needed Cesarean section, and 1.34% aborted. In conclusion, the reproductive parameters of the DA bitch are similar to those identified for other large breeds. DA often showed a prolonged vulval bleeding longer than proestrus. Its high whelping rate, its low incidence of dystocia, and its good maternal ability define the DA as a good reproductive breed with normal reproductive functions.

  5. Reproductive And Sexual Health - The Unfinished Agenda

    Directory of Open Access Journals (Sweden)

    V K Srivastava

    2003-12-01

    Full Text Available The international community for the first time during the International Conference on Population and Development in 1994 defined the Reproductive Health, not in a demographic context, but as a right and matter of choice for even individual. In the years that followed other International Conferences on women issues reinforced this consensus. The human right relevant of Reproductive Health includes :The right to life and healthThe freedom to marry and determine the number, timing and spacing of childrenThe right to access the informationThe right to discrimination and equality for men and womenThe right to liberty and security of the person, including freedom from sexual violence and coercionThe right to privacyThe women all over the world have the same reproductive health needs, however, the factors like migration and urbanization that influence the involuntary movement of populations within the national frontiers render them more vulnerable, including to reproductive health problems. This increases their needs for preventive and curative care, including sendees related to safe motherhood, family planning, prevention and treatment of complicated abortions. HIV/AIDS and other sexually transmitted infections (STls. The consequences of sexual violence, traditional values, extended families, new friends and unfamiliar ways of life, inadequate reproductive health sendees etc are unusual impediments for availing the sendees.

  6. Avian reproductive physiology

    Science.gov (United States)

    Gee, G.F.; Gibbons, Edward F.; Durrant, Barbara S.; Demarest, Jack

    1995-01-01

    Knowledge of the many physiological factors associated with egg production , fertility, incubation, and brooding in nondomestic birds is limited. Science knows even less about reproduction in most of the 238 endangered or threatened birds. This discussion uses studies of nondomestic and, when necessary, domestic birds to describe physiological control of reproduction. Studies of the few nondomestic avian species show large variation in physiological control of reproduction. Aviculturists, in order to successfully propagate an endangered bird, must understand the bird's reproductive peculiarities. First, investigators can do studies with carefully chosen surrogate species, but eventually they need to confirm the results in the target endangered bird. Studies of reproduction in nondomestic birds increased in the last decade. Still, scientists need to do more comparative studies to understand the mechanisms that control reproduction in birds. New technologies are making it possible to study reproductive physiology of nondomestic species in less limiting ways. These technologies include telemetry to collect information without inducing stress on captives (Howey et al., 1987; Klugman, 1987), new tests for most of the humoral factors associated with reproduction, and the skill to collect small samples and manipulate birds without disrupting the physiological mechanisms (Bercovitz et al., 1985). Managers are using knowledge from these studies to improve propagation in zoological parks, private and public propagation facilities, and research institutions. Researchers need to study the control of ovulation, egg formation, and oviposition in the species of nondomestic birds that lay very few eggs in a season, hold eggs in the oviduct for longer intervals, or differ in other ways from the more thoroughly studied domestic birds. Other techniques that would enhance propagation for nondomestlc birds include tissue culture of cloned embryonic cells, cryopreservation of embryos

  7. Reproductive Liberty and Overpopulation

    OpenAIRE

    Carol A. Kates

    2004-01-01

    Despite substantial evidence pointing to a looming Malthusian catastrophe, governmental measures to reduce population have been opposed both by religious conservatives and by many liberals, especially liberal feminists. Liberal critics have claimed that 'utilitarian' population policies violate a 'fundamental right of reproductive liberty'. This essay argues that reproductive liberty should not be considered a fundamental human right, or certainly not an indefeasible right. It should, instead...

  8. Thyroid and male reproduction

    Directory of Open Access Journals (Sweden)

    Anand Kumar

    2014-01-01

    Full Text Available Male reproduction is governed by the classical hypothalamo-hypophyseal testicular axis: Hypothalamic gonadotropin releasing hormone (GnRH, pituitary luteinizing hormone (LH and follicle stimulating hormone (FSH and the gonadal steroid, principally, testosterone. Thyroid hormones have been shown to exert a modulatory influence on this axis and consequently the sexual and spermatogenic function of man. This review will examine the modulatory influence of thyroid hormones on male reproduction.

  9. Thyroid and male reproduction.

    Science.gov (United States)

    Kumar, Anand; Shekhar, Skand; Dhole, Bodhana

    2014-01-01

    Male reproduction is governed by the classical hypothalamo-hypophyseal testicular axis: Hypothalamic gonadotropin releasing hormone (GnRH), pituitary luteinizing hormone (LH) and follicle stimulating hormone (FSH) and the gonadal steroid, principally, testosterone. Thyroid hormones have been shown to exert a modulatory influence on this axis and consequently the sexual and spermatogenic function of man. This review will examine the modulatory influence of thyroid hormones on male reproduction.

  10. Asexual Reproduction in Holothurians

    Science.gov (United States)

    Dolmatov, Igor Yu.

    2014-01-01

    Aspects of asexual reproduction in holothurians are discussed. Holothurians are significant as fishery and aquaculture items and have high commercial value. The last review on holothurian asexual reproduction was published 18 years ago and included only 8 species. An analysis of the available literature shows that asexual reproduction has now been confirmed in 16 holothurian species. Five additional species are also most likely capable of fission. The recent discovery of new fissiparous holothurian species indicates that this reproduction mode is more widespread in Holothuroidea than previously believed. New data about the history of the discovery of asexual reproduction in holothurians, features of fission, and regeneration of anterior and posterior fragments are described here. Asexual reproduction is obviously controlled by the integrated systems of the organism, primarily the nervous system. Special molecular mechanisms appear to determine the location where fission occurs along the anterior-posterior axis of the body. Alteration of the connective tissue strength of the body wall may play an important role during fission of holothurians. The basic mechanism of fission is the interaction of matrix metalloproteinases, their inhibitors, and enzymes forming cross-link complexes between fibrils of collagen. The population dynamics of fissiparous holothurians are discussed. PMID:25405228

  11. Observations on new reproductive technologies.

    Science.gov (United States)

    Grobstein, C

    1989-01-01

    The abortion issue is polarized between 2 strong constituencies, one seeking maximum choice for the mother and the other for the protection of life of the unborn child. The issue here is the "conceptus", that is, the period of human development from conception to birth, usually occurring in the mother's body. One can be both prolife and prochoice, since neither life or choice is absolute in respect to the other. During pregnancy there is a interim functional connection between persons of 2 successive generations, therefore neither life nor choice can completely dominate without denigrating the other. In this situation they can be valued individually, but judgement as to their relative priority must be combined, especially if there is conflict. The status and nature of each must be defined to reach a balance. The conflicting issues must be dealt with in areas of contraception, in vitro fertilization, embryo transfer, cryopreservation, fetal therapy, transplantation of embryonic or fetal tissue, and experiments on fetuses and embryos. The current range of reproductive options is a result of years of research and medical change. A review should be made of everything scientifically known of the developing unborn before policy decisions are made. The differences between a pre-embryo, an embryo and fetus must be carefully weighed before setting standards on ethical treatment of the unborn in relation to abortion, or other reproductive interventions. A national commission could be set up to analyze current and new knowledge and make recommendations for public debate and formation of policy.

  12. Reproductive endocrinology of vitamin D

    DEFF Research Database (Denmark)

    Lorenzen, Mette; Boisen, Ida Marie; Mortensen, Li Juel

    2017-01-01

    in the reproductive tissues. The reproductive organs are therefore responsive to and able to metabolize vitamin D locally. The exact role remains to be clarified but several studies have suggested a link between vitamin D and production/release of reproductive hormones into circulation, which will be the main focus...... suffering from reproductive problems and abnormal endocrinology research addressing the role of vitamin D in reproductive endocrinology is of clinical importance....

  13. New perspectives on preimplantation genetic diagnosis and preimplantation genetic screening

    Directory of Open Access Journals (Sweden)

    Chun-Kai Chen

    2014-06-01

    Full Text Available Preimplantation genetic diagnosis is a procedure that involves the removal of one or more nuclei from oocytes (a polar body or embryos (blastomeres or trophectoderm cells in order to test for problems in genome sequence or chromosomes of the embryo prior to implantation. It provides new hope of having unaffected children, as well as avoiding the necessity of terminating an affected pregnancy for genetic parents who carry an affected gene or have balanced chromosomal status. Polymerase chain reaction-based molecular techniques are the methods used to detect gene defects with a known sequence and X-linked diseases. The indication for using this approach has expanded for couples who are prevented from having babies because they carry a serious genetic disorder to couples with conditions that are not immediately life threatening, such as cancer predisposition genes and Huntington disease. In addition, fluorescent in situ hybridization (FISH has been widely applied for the detection of chromosome abnormalities. FISH allows the evaluation of many chromosomes at the same time, up to 15 chromosome pairs in a single cell. Preimplantation genetic screening, defined as a test that screens for aneuploidy, has been most commonly used in situations of advanced maternal age, a history of recurrent miscarriage, a history of repeated implantation failure, or a severe male factor. Unfortunately, randomized controlled trials have as yet shown no benefit with respect to preimplantation genetic screening using cleavage stage biopsy, which is probably attributable to the high levels of mosaicism at early cleavage stages and the limitations of FISH. Recently, two main types of array-based technology combined with whole genome amplification have been developed for use in preimplantation genetic diagnosis; these are comparative genomic hybridization and single nucleotide polymorphism-based arrays. Both allow the analysis of all chromosomes, and the latter also allows

  14. Effect of Delayed Insemination on Holstein Cows’ Reproductive Performance

    DEFF Research Database (Denmark)

    Gaillard, Charlotte; Sehested, Jakob; Vestergaard, Mogens

    2016-01-01

    Holstein cows’ fertility has decreased in the last decade, creating a need for new management methods to improve the reproductive performance which in this case was defined by pregnancy rates and number of artificial inseminations (AI) per pregnancy. Previous studies showed that deliberately...... and number of insemination to pregnancy) of 62 Holstein cows involved in a 16 months extended lactation trial was recorded and compared with the reproductive performance of the previous and following 10 months lactation of the same cows. It was hypothesized that a late rebreeding (at eight months, 16 months...... delaying rebreeding until after peak lactation can improve reproductive performance compared with the traditional rebreeding in early lactation. The objective was to compare the reproductive performance of cows in consecutive lactations of different lengths. The reproductive performance (pregnancy rate...

  15. Effect of Delayed Insemination on Holstein Cows’ Reproductive Performance

    DEFF Research Database (Denmark)

    Gaillard, Charlotte; Sehested, Jakob; Vestergaard, Mogens

    2016-01-01

    Holstein cows’ fertility has decreased in the last decade, creating a need for new management methods to improve the reproductive performance which in this case was defined by pregnancy rates and number of artificial inseminations (AI) per pregnancy. Previous studies showed that deliberately...... delaying rebreeding until after peak lactation can improve reproductive performance compared with the traditional rebreeding in early lactation. The objective was to compare the reproductive performance of cows in consecutive lactations of different lengths. The reproductive performance (pregnancy rate...... and number of insemination to pregnancy) of 62 Holstein cows involved in a 16 months extended lactation trial was recorded and compared with the reproductive performance of the previous and following 10 months lactation of the same cows. It was hypothesized that a late rebreeding (at eight months, 16 months...

  16. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Department of Laboratory Animal Science, Medical College of Jinan University, Guangzhou, Guangdong 510632, People's Republic of China; Department of Animal Genetics, Breeding and Reproduction, College of Animal Science, South China Agricultural University, Guangzhou 510642, Guangdong, People's Republic of ...

  17. Genetic algorithm for nuclear data evaluation

    Energy Technology Data Exchange (ETDEWEB)

    Arthur, Jennifer Ann [Los Alamos National Lab. (LANL), Los Alamos, NM (United States)

    2018-02-02

    These are slides on genetic algorithm for nuclear data evaluation. The following is covered: initial population, fitness (outer loop), calculate fitness, selection (first part of inner loop), reproduction (second part of inner loop), solution, and examples.

  18. Glucocorticoid Regulation of Reproduction.

    Science.gov (United States)

    Geraghty, Anna C; Kaufer, Daniela

    2015-01-01

    It is well accepted that stress, measured by increased glucocorticoid secretion, leads to profound reproductive dysfunction. In times of stress, glucocorticoids activate many parts of the fight or flight response, mobilizing energy and enhancing survival, while inhibiting metabolic processes that are not necessary for survival in the moment. This includes reproduction, an energetically costly procedure that is very finely regulated. In the short term, this is meant to be beneficial, so that the organism does not waste precious energy needed for survival. However, long-term inhibition can lead to persistent reproductive dysfunction, even if no longer stressed. This response is mediated by the increased levels of circulating glucocorticoids, which orchestrate complex inhibition of the entire reproductive axis. Stress and glucocorticoids exhibits both central and peripheral inhibition of the reproductive hormonal axis. While this has long been recognized as an issue, understanding the complex signaling mechanism behind this inhibition remains somewhat of a mystery. What makes this especially difficult is attempting to differentiate the many parts of both of these hormonal axes, and new neuropeptide discoveries in the last decade in the reproductive field have added even more complexity to an already complicated system. Glucocorticoids (GCs) and other hormones within the hypothalamic-pituitary-adrenal (HPA) axis (as well as contributors in the sympathetic system) can modulate the hypothalamic-pituitary-gonadal (HPG) axis at all levels-GCs can inhibit release of GnRH from the hypothalamus, inhibit gonadotropin synthesis and release in the pituitary, and inhibit testosterone synthesis and release from the gonads, while also influencing gametogenesis and sexual behavior. This chapter is not an exhaustive review of all the known literature, however is aimed at giving a brief look at both the central and peripheral effects of glucocorticoids on the reproductive function.

  19. Conservation of the European mink (Mustela lutreola): focus on reproduction and reproductive technologies.

    Science.gov (United States)

    Amstislavsky, S; Lindeberg, H; Aalto, J; Kennedy, M W

    2008-08-01

    The European mink (Mustela lutreola) is a small mammal, which belongs to the Mustelidae family (Carnivora). Earlier, the range of distribution of this species encompassed much of the European continent. During the 20th century, the numbers of European mink declined and the range of its distribution became reduced to three fragmented populations; today this species faces extinction. The urgent necessity for effective conservation efforts to protect the European mink is accepted by the governmental organizations as well as scientific communities of most European countries. In this paper, the reasons for the disappearance of European mink are reviewed and results of past conservation efforts based on captive breeding and reintroduction programmes are critically evaluated in the broad context of modern concepts of conservation genetics and reproductive biology. The data recently obtained on the reproduction and pre-implantation development of European mink and the prospects of incorporation of modern reproductive technologies into the conservation programme of this species are discussed.

  20. Male partner reproductive coercion among women veterans.

    Science.gov (United States)

    Rosenfeld, Elian A; Miller, Elizabeth; Zhao, Xinhua; Sileanu, Florentina E; Mor, Maria K; Borrero, Sonya

    2017-10-19

    Male partner reproductive coercion is defined as male partners' attempts to promote pregnancy through interference with women's contraceptive behaviors and reproductive decision-making. Male partners may try to promote pregnancy through birth control sabotage such as taking away or destroying their partners' contraceptives, refusing to wear condoms, and/or verbally pressuring their partners to abstain from contraceptive use. Reproductive coercion is associated with an elevated risk for unintended pregnancy. Women who experience intimate partner violence, who are in racial/ethnic minorities, and who are of lower socioeconomic status are more likely to experience reproductive coercion. Women veterans who use Veterans Affairs for health care may be particularly vulnerable to reproductive coercion because they are disproportionally from racial/ethnic minority groups and experience high rates of intimate partner violence. We sought to examine the prevalence, correlates, and impact of reproductive coercion among women veterans who are served by the Veterans Affairs healthcare system. We analyzed data from a national telephone survey of women veterans aged 18-44 years, with no history of sterilization or hysterectomy, who had received care within the Veterans Affairs system in the previous 12 months. Participants who had sex with men in the last year were asked if they experienced male partner reproductive coercion. Adjusted logistic regression was used to examine the relationship between participant characteristics and male partner reproductive coercion and the relationship between reproductive coercion and the outcomes of contraceptive method used at last sex and pregnancy and unintended pregnancy in the last year. Among the 1241 women veterans in our study cohort, 11% reported experiencing male partner reproductive coercion in the past year. Black women, younger women, and single women were more likely to report reproductive coercion than their white, older, and

  1. Prenatal screening and genetics

    DEFF Research Database (Denmark)

    Alderson, P; Aro, A R; Dragonas, T

    2001-01-01

    Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we...... examine definitions of the relevant concepts in order to illustrate this point. The concepts are i) prenatal, ii) genetic screening, iii) screening, scanning and testing, iv) maternal and foetal tests, v) test techniques and vi) genetic conditions. So far, prenatal screening has little connection...... with precisely defined genetics. There are benefits but also disadvantages in overstating current links between them in the term genetic screening. Policy making and professional and public understandings about screening could be clarified if the distinct meanings of prenatal screening and genetic screening were...

  2. Adipokines in human reproduction.

    Science.gov (United States)

    Dupont, Joëlle; Pollet-Villard, Xavier; Reverchon, Maxime; Mellouk, Namya; Levy, Rachel

    2015-10-01

    Adipose tissue communicates with other central and peripheral organs by the synthesis and release of substances called adipokines. The most studied adipokine is leptin but others have been recently identified including resistin, adiponectin, chemerin, omentin and visfatin. These adipokines have a critical role in the development of obesity-related complications and inflammatory conditions. However, they are also involved in other functions in the organism including reproductive functions. Indeed, many groups have demonstrated that adipokine receptors, such as adiponectin and chemerin, but also adipokines themselves (adiponectin, chemerin, resistin, visfatin and omentin) are expressed in human peripheral reproductive tissues and that these adipokines are likely to exert direct effects on these tissues. After a brief description of these new adipokines, an overview of their actions in different human reproductive organs (hypothalamus, pituitary, ovary, testis, uterus and placenta) will be presented. Finally, comments will be made on the eventual alterations of these adipokines in reproductive disorders, with special attention to polycystic ovary syndrome, a disease characterized by dysfunction of gonadal axis and systemic nerve endocrine metabolic network with a prevalence of up to 10% in women of reproductive age.

  3. Immunology and human reproduction.

    Science.gov (United States)

    Alecsandru, Diana; García-Velasco, Juan Antonio

    2015-06-01

    The immune system's role in recurrent reproductive failure is a controversial issue in assisted reproduction. New insight about maternal tolerance in assisted reproduction has been reported and could explain some of the recurrent miscarriage and/or recurrent implantation failure related causes named until now as unknown. Most of the previous studies about immune system implication in reproduction were focused on finding markers on peripheral blood. Maternal tolerance begins at the uterine level, so successful adaptation to the fetus happens after a complicated process. Insufficient invasion of the uterine lining by invading extravillous trophoblast is the primary defect in pregnancy disorders such as recurrent miscarriage, and this process is regulated by interaction between maternal killer immunoglobulin-like receptors (KIRs) expressed by the uterine natural killer cells and their ligand human leukocyte antigen (HLA)-C expressed by extravillous trophoblast. Pregnancies are an increased risk of disorders in mothers with KIR AA when the fetus has paternal HLA-C2. Recently, it has been reported that the expression of more than one paternal HLA-C by extravillous trophoblast in assisted reproduction may affect placentation in mothers with KIR AA. The review provides insight about the immune tolerance process. These insights could have an impact on the selection of single embryo transfer and/or oocyte/sperm donor according to HLA-C in patients with recurrent miscarriage or recurrent implantation failure and a KIR AA haplotype.

  4. Speeding the reproductive revolution.

    Science.gov (United States)

    Robey, B; Upadhyay, U

    1999-01-01

    In 1994, at the International Conference on Population and Development (ICPD) held in Cairo, the international community set the goal of ensuring universal access to reproductive health care by 2015 and agreed to finance its costs. Few governments and donor countries, however, have made good on commitments made at the ICPD. Reproductive health is not improving and may actually be getting worse. Specific goals to be reached by 2015 include meeting all unmet need for family planning, reducing maternal mortality by 75% compared with 1990 levels, and reducing infant mortality to lower than 35 deaths/1000 births. Reaching these and the related reproductive health goals of the ICPD was calculated to cost about US$17 billion/year until 2000, then to increase to $22 billion/year by 2015 (in constant 1993 US dollars). Developing countries agreed to pay 66% of the cost, while donor countries paid the remainder. Immediately after the ICPD, reproductive health funding increased substantially, then declined again, with most donor countries failing to meet their funding commitments. Failure to deliver on the promised financial support for the ICPD goals will result in higher levels of unintended pregnancies, induced abortions, cases of maternal mortality, and infant deaths. Governments need to be convinced that paying for reproductive health programs is an urgent priority and that developing countries, donor countries, and multilateral institutions all have much to gain from reaching the ICPD goals.

  5. Reproductive endocrinology of Syngnathidae.

    Science.gov (United States)

    Scobell, S K; Mackenzie, D S

    2011-06-01

    Few studies have examined the underlying hormonal mechanisms that mediate reproductive cyclicity, male pregnancy and reproductive behaviour in syngnathids. Progress in these areas has been hampered by the small size of most species in the family and a lack of validated techniques for assessing endocrine function. Research on a relatively small number of species has suggested that androgens are likely regulators of spermatogenesis and the development of the male brood pouch prior to pregnancy whereas prolactin and corticosteroids synergistically promote brood pouch function during pregnancy. No evidence supports a reversal of reproductive steroid hormone function in sex-role reversed behaviour, but neuropeptides such as arginine vasotocin or isotocin should be examined for their role in regulating parturition and mating behaviour. The diversity of reproductive patterns exhibited by syngnathids suggests that they will provide a unique opportunity to assess how hormonal regulation of integumentary function, gametogenesis and reproductive behaviour have evolved within a teleost lineage. Additionally, their coastal distribution and embryo retention make them potentially important subjects for studies on the effect of endocrine disruption on fitness. © 2011 The Authors. Journal of Fish Biology © 2011 The Fisheries Society of the British Isles.

  6. Biofantasies: genetics and medicine in the print news media.

    Science.gov (United States)

    Petersen, A

    2001-04-01

    The contemporary news media is an important site for exploring the diverse and complex cultural images of genetics and its medical possibilities, and of the mechanisms by which these images are (re) produced and sustained. This article investigates how the print news media 'frames' stories on genetics and medicine. It is based on a discourse analysis of articles appearing in three Australian newspapers in the late 1990s. Gene stories were found to be prominent in each of the newspapers, and to emphasise the medical benefits of genetic research. Stories frequently cite and quote scientists, who explain the nature and significance of the research and/or its implications for treatment or prevention. Many stories focus on new genetic discoveries, and portray genetic researchers as involved in a quest to unlock nature's secrets. Stories of hope, and depictions of geneticists as warriors or heroes, appear regularly. The positive vision of genetics is supported by the use of particular metaphors, accompanying illustrative material, 'human interest' stories, and reference to credible sources. There is rarely mention of the influence of non-genetic factors and 'multifactorial' interactions on disorders, or questioning of the goals, direction, methods, or value of genetic research. Scientists made extensive use of the media in their efforts to maintain a positive image of research in the face of public concerns about scientists 'going too far', following the announcement of the cloning of Dolly. Boundaries were drawn between 'therapeutic cloning'--implicitly defined as 'good', useful, and legitimate--and 'reproductive cloning'--seen as 'bad', dangerous, and illegitimate. By framing news stories as they do, the print news media are likely to exert a powerful influence on public responses to health problems. With new genetic technologies becoming more integrated in preventive medicine and public health, it is important to investigate how news stories help shape the agenda for

  7. Exceptional longevity is associated with decreased reproduction.

    Science.gov (United States)

    Tabatabaie, Vafa; Atzmon, Gil; Rajpathak, Swapnil N; Freeman, Ruth; Barzilai, Nir; Crandall, Jill

    2011-12-01

    A number of leading theories of aging, namely The Antagonistic Pleiotropy Theory (Williams, 1957), The Disposable Soma Theory (Kirkwood, 1977) and most recently The Reproductive-Cell Cycle Theory (Bowen and Atwood, 2004, 2010) suggest a tradeoff between longevity and reproduction. While there has been an abundance of data linking longevity with reduced fertility in lower life forms, human data have been conflicting. We assessed this tradeoff in a cohort of genetically and socially homogenous Ashkenazi Jewish centenarians (average age ~100 years). As compared with an Ashkenazi cohort without exceptional longevity, our centenarians had fewer children (2.01 vs 2.53, p<0.0001), were older at first childbirth (28.0 vs 25.6, p<0.0001), and at last childbirth (32.4 vs 30.3, p<0.0001). The smaller number of children was observed for male and female centenarians alike. The lower number of children in both genders together with the pattern of delayed reproductive maturity is suggestive of constitutional factors that might enhance human life span at the expense of reduced reproductive ability.

  8. Tribbles role in reproduction.

    Science.gov (United States)

    Basatvat, Shaghayegh; Carter, Deborah Angela Louise; Kiss-Toth, Endre; Fazeli, Alireza

    2015-10-01

    Tribbles (TRIB) proteins, a family of evolutionary conserved psuedokinase proteins, modulate various signalling pathways within the cell. The regulatory roles of TRIB make them an important part of a number of biological processes ranging from cell proliferation to metabolism, immunity, inflammation and carcinogenesis. Innate immune system plays a pivotal role during the regulation of reproductive processes that allows successful creation of an offspring. Its involvement initiates from fertilization of the oocyte by spermatozoon and lasts throughout early embryonic development, pregnancy and labour. Therefore, there is a close cooperation between the reproductive system and the innate immune system. Evidence from our lab has demonstrated that improper activation of the innate immune system can reduce embryo implantation, thus leading to infertility. Therefore, control mechanisms regulating the innate immune system function can be critical for successful reproductive events. © 2015 Authors; published by Portland Press Limited.

  9. Dinosaur Reproduction and Parenting

    Science.gov (United States)

    Horner, John R.

    Non-avian dinosaur reproductive and parenting behaviors were mostly similar to those of extant archosaurs. Non-avian dinosaurs were probably sexually dimorphic and some may have engaged in hierarchical rituals. Non-avian coelurosaurs (e.g. Troodontidae, Oviraptorosauria) had two active oviducts, each of which produced single eggs on a daily or greater time scale. The eggs of non-coelurosaurian dinosaurs (e.g. Ornithischia, Sauropoda) were incubated in soils, whereas the eggs of non-avian coelurosaurs (e.g. Troodon, Oviraptor) were incubated with a combination of soil and direct parental contact. Parental attention to the young was variable, ranging from protection from predators to possible parental feeding of nest-bound hatchlings. Semi-altricial hadrosaur hatchlings exited their respective nests near the time of their first linear doubling. Some reproductive behaviors, once thought exclusive to Aves, arose first in non-avian dinosaurs. The success of the Dinosauria may be related to reproductive strategies.

  10. Reproductive partitioning and the assumptions of reproductive skew models in the cooperatively breeding American crow

    OpenAIRE

    Townsend, Andrea K.; Clark, Anne B.; McGowan, Kevin J.; Lovette, Irby J.

    2009-01-01

    Understanding the benefits of cooperative breeding for group members of different social and demographic classes requires knowledge of their reproductive partitioning and genetic relatedness. From 2004-2007, we examined parentage as a function of relatedness and social interactions among members of 21 American crow (Corvus brachyrhynchos) family groups. Paired female breeders monopolized maternity of all offspring in their broods, whereas paired male breeders sired 82.7% of offspring, within-...

  11. Genotypically defined lissencephalies show distinct pathologies.

    Science.gov (United States)

    Forman, Mark S; Squier, Waney; Dobyns, William B; Golden, Jeffrey A

    2005-10-01

    Lissencephaly is traditionally divided into 2 distinct pathologic forms: classic (type I) and cobblestone (type II). To date, mutations in 4 genes, LIS1, DCX, RELN, and ARX, have been associated with distinct type I lissencephaly syndromes. Each of these genes has been shown to play a role in normal cell migration, consistent with the presumed pathogenesis of type I lissencephaly. Based on these data, we hypothesized that all forms of radiographically defined type I lissencephaly independent of genotype would be pathologically similar. To test this hypothesis, we examined brains from 16 patients, including 15 lissencephalic patients and one patient with subcortical band heterotopia. Of these 16 patients, 6 had LIS1 deletions, 2 had DCX mutations, and 2 had ARX mutations. In addition, 6 patients had no defined genetic defect, although the patient with subcortical band heterotopia exhibited the same pattern of malformation expected with an XLIS mutation. In all cases, the cortex was thickened; however, the topographic distribution of the cortical pathology varied, ranging from frontal- to occipital-biased pathology to diffuse involvement of the neocortex. Although brains with LIS1 deletions exhibited the classic 4-layer lissencephalic architecture, patients with DCX and ARX mutations each had unique cytoarchitectural findings distinct from LIS1. Furthermore, 2 of the 5 patients with no known genetic defect showed a fourth type of histopathology characterized by a 2-layered cortex. Interestingly, the 2 brains with the fourth type of lissencephaly showed profound brainstem and cerebellar abnormalities. In summary, we identified at least 4 distinct histopathologic subtypes of lissencephaly that stratify with the underlying genetic defect. Based on these data, a new classification for lissencephaly is proposed that incorporates both pathologic and genetic findings.

  12. Engineering species-like barriers to sexual reproduction.

    Science.gov (United States)

    Maselko, Maciej; Heinsch, Stephen C; Chacón, Jeremy M; Harcombe, William R; Smanski, Michael J

    2017-10-12

    Controlling the exchange of genetic information between sexually reproducing populations has applications in agriculture, eradication of disease vectors, control of invasive species, and the safe study of emerging biotechnology applications. Here we introduce an approach to engineer a genetic barrier to sexual reproduction between otherwise compatible populations. Programmable transcription factors drive lethal gene expression in hybrid offspring following undesired mating events. As a proof of concept, we target the ACT1 promoter of the model organism Saccharomyces cerevisiae using a dCas9-based transcriptional activator. Lethal overexpression of actin results from mating this engineered strain with a strain containing the wild-type ACT1 promoter.Genetic isolation of a genetically modified organism represents a useful strategy for biocontainment. Here the authors use dCas9-VP64-driven gene expression to construct a 'species-like' barrier to reproduction between two otherwise compatible populations.

  13. Genetic and perinatal effects of abused substances

    Energy Technology Data Exchange (ETDEWEB)

    Brande, M.C.; Zimmerman, A.M.

    1987-01-01

    This book provides an overview of the effects of several abused drugs, including opiates, cannabinoids, alcohol, nicotine, and cocaine, with special emphasis on the actions of these substances at the molecular and cellular levels. The first half deals with genetic effects, including molecular genetics, biochemical genetics, pharmacogenetics, cytogenetics, and genetic toxicity. The second half focuses on perinatal effects and covers: drug abuse during pregnancy; biochemical aspects of marihuana on male reproduction; and long-term behavioral and neuroendocrine effects of perinatal alcohol exposure.

  14. Genetic approaches to defining pathogenesis of Toxoplasma gondii

    Science.gov (United States)

    Toxoplasma gondii is a widespread parasite of warm-blooded vertebrates that also causes opportunistic infections in humans. Rodents are a natural host for transmission to cats, which serve as the definitive host for sexual development. The laboratory mouse provides a model to study pathogenesis. Str...

  15. Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study

    DEFF Research Database (Denmark)

    Milne, Roger L; Gaudet, Mia M; Spurdle, Amanda B

    2010-01-01

    Several common breast cancer genetic susceptibility variants have recently been identified. We aimed to determine how these variants combine with a subset of other known risk factors to influence breast cancer risk in white women of European ancestry using case-control studies participating in th...

  16. Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study

    DEFF Research Database (Denmark)

    Milne, Roger L; Gaudet, Mia M; Spurdle, Amanda B

    2010-01-01

    Several common breast cancer genetic susceptibility variants have recently been identified. We aimed to determine how these variants combine with a subset of other known risk factors to influence breast cancer risk in white women of European ancestry using case-control studies participating...

  17. [Metabolic and Reproductive Consequences of the Polycystic Ovary Syndrome (PCOS)].

    Science.gov (United States)

    Feichtinger, Michael; Stopp, Tina; Göbl, Christian

    2016-03-01

    Polycystic ovarian syndrome represents the most common endocrine disease of women of reproductive age. Symptoms include metabolic, gynecologic and cosmetic features. Genetic factors seem to contribute to the disease, affecting not only women but also male relatives of patients with similar symptoms. Besides, lifestyle factors play a central role impacting clinical PCOS appearance. Following we present an overview of the syndrome, its epidemiology, metabolic and gynecological aspects, gender and genetic factors and its therapy.

  18. Pseudopregnancy and aseasonal breeding in dairy goats: genetic basis of fertility and impact on lifetime productivity.

    Science.gov (United States)

    Desire, S; Mucha, S; Coffey, M; Mrode, R; Broadbent, J; Conington, J

    2017-12-01

    Until recently, the main selection focus in UK dairy goats has been on milk yield. To develop a selection index suitably weighted for a variety of traits, it is important to understand the genetic relationships between production, health and fertility traits. This study focussed on three aspects of reproduction that are of interest to goat breeders. (1) Out of season (OOS) kidding ability: goats are highly seasonal breeders so achieving consistent, year-round dairy production presents a challenge. It may be possible to select for extended or shifted breeding cycles, however, there are no published studies on the genetic basis of seasonal kidding ability, and a genetic correlation with milk production in dairy goats; (2) age at first kidding (AFK): a reduced AFK offers the opportunity for more rapid genetic improvement, as well as reducing the amount of time and resources required to raise the animals to producing age; (3) pseudopregnancy (PPG): as it is difficult to diagnose pregnancy within 30 days of mating, high herd levels of PPG could add a significant delay in breeding replacement animals, or commencing a new lactation. Using records from 9546 goats, the objective of this study was to investigate the genetic relationships between the reproductive traits described above, and the production traits 520-day milk yield (MY520), lifetime milk yield (MYLife) and lifetime number of days in milk (DIMLife). The 'out of season' phenotype was defined as week of kidding relative to the 4 weeks of the year where the highest average number of births occur. Incidences of PPG that occurred during the first lactation were used as cases, while goats with none were assigned as controls. Relevant fixed and random effects were fitted in the models. In line with other reproduction traits, heritability estimates were low ranging from 0.08 to 0.11. A negative genetic correlation was found between AFK and MY520 (-0.22±0.10), whereas a positive genetic correlation was found between

  19. Modern methods of diagnostics in the reproduction

    Directory of Open Access Journals (Sweden)

    N. V. Avramenko

    2014-10-01

    Full Text Available An important component of modern medicine is the problem of infertility. Saving and restoring reproductive health – major medical task with state values. Therefore, modern diagnosis and subsequent treatment of infertility should be regarded as a reserve of the birth of desired children and increase the reproductive potential of the population. Aim. Review of the modern rational and evidence based methods for the examination of the infertile couples was done. Methods and results. Carefully collected medical history, physical examination, clinical, ultrasound, instrumental, radiological, histopathological, genetic research methods should be used to clarify the causes of infertility. Conclusion. It should be noted that infertility is a condition that characterizes exactly a couple, not an individual organism. Therefore, the diagnostic algorithms should consider both partners.

  20. Referring patients for a medical genetics consultation and genetic counseling.

    Science.gov (United States)

    Sutton, Reid

    2011-01-01

    Clinical geneticists and genetic counselors provide diagnosis and counseling for genetic disorders affecting every organ system and every age group. Genetic counselors are more focused on informing patients and families about the inheritance of a genetic disorder and providing recurrence risk counseling, support and information about a diagnosis and reproductive options. Medical geneticists may also share some of these roles in addition to establishing a diagnosis and providing medical management. Medical Geneticists receive training in ACGME-accredited residency programs and are certified by the American Board of Medical Genetics. Genetic counseling is a masters degree program and certification is granted by the American Board of Genetic Counseling. When a patient/family is referred to a Clinical Geneticist, they may expect a thorough evaluation in an effort to establish a diagnosis that may provide information about etiology, prognosis, therapy and recurrence risk. Copyright © 2011 S. Karger AG, Basel.

  1. Reproductive health in young male adults with chronic diseases in childhood.

    Science.gov (United States)

    De Sanctis, Vincenzo; Soliman, Ashraf; Mohamed, Yassin

    2013-01-01

    The Centres for Disease Control and Prevention have defined a chronic diseases as an "illnesses that are prolonged, do not resolve spontaneously, and are rarely cured completely". Approximately 20% of all children have a chronic illness and 65% of them the illness is severe enough to interfere with daily activities. Failure of pubertal growth, delay or absence of sexual development, infertility and sexual dysfunction due to hypogonadism and defective spermatogenesis are well recognized disturbances among adolescents and young male adult patients with chronic diseases. The causes are multifactorial and can be due to disease itself, associated complications or drugs. Haemoglobinopathies, endocrine disorders, gastrointestinal and renal diseases are some examples that frequently cause some degree of disability. Infertility affects the future quality of life of these patients and is a predictor of stress in current and future relationships. Health care providers often neglect the reproductive health of chronically ill adolescents and young adults, although many studies indicate that they are sexually active and interested in knowing about their future fertility. This review article provides an overview of the literature concerning the impact of some chronic diseases in adolescents and young adults on reproductive health but will not address patients with cancer because it has been tackled adequately in the literature.MEDLINE database search of English-language medical journal articles published between 1975 and 2012 for papers related to reproductive health in adolescents and young adults with chronic diseases since childhood was done. Several Authors, recommend that all young adult patients with severe/prolonged chronic disease in childhood should be offered reproductive health care in a specialized center with appropriate expertise, involving a multidisciplinary team, including endocrinologists, andrologists, geneticists, psychologists, urologists and specialist

  2. Unisexual reproduction enhances fungal competitiveness by promoting habitat exploration via hyphal growth and sporulation.

    Science.gov (United States)

    Phadke, Sujal S; Feretzaki, Marianna; Heitman, Joseph

    2013-08-01

    Unisexual reproduction is a novel homothallic sexual cycle recently discovered in both ascomycetous and basidiomycetous pathogenic fungi. It is a form of selfing that induces the yeast-to-hyphal dimorphic transition in isolates of the α mating type of the human fungal pathogen Cryptococcus neoformans. Unisexual reproduction may benefit the pathogen by facilitating sexual reproduction in the absence of the opposite a mating type and by generating infectious propagules called basidiospores. Here, we report an independent potential selective advantage of unisexual reproduction beyond genetic exchange and recombination. We competed a wild-type strain capable of undergoing unisexual reproduction with mutants defective in this developmental pathway and found that unisexual reproduction provides a considerable dispersal advantage through hyphal growth and sporulation. Our results show that unisexual reproduction may serve to facilitate access to both nutrients and potential mating partners and may provide a means to maintain the capacity for dimorphic transitions in the environment.

  3. Reproduction numbers of infectious disease models

    Directory of Open Access Journals (Sweden)

    Pauline van den Driessche

    2017-08-01

    Full Text Available This primer article focuses on the basic reproduction number, ℛ0, for infectious diseases, and other reproduction numbers related to ℛ0 that are useful in guiding control strategies. Beginning with a simple population model, the concept is developed for a threshold value of ℛ0 determining whether or not the disease dies out. The next generation matrix method of calculating ℛ0 in a compartmental model is described and illustrated. To address control strategies, type and target reproduction numbers are defined, as well as sensitivity and elasticity indices. These theoretical ideas are then applied to models that are formulated for West Nile virus in birds (a vector-borne disease, cholera in humans (a disease with two transmission pathways, anthrax in animals (a disease that can be spread by dead carcasses and spores, and Zika in humans (spread by mosquitoes and sexual contacts. Some parameter values from literature data are used to illustrate the results. Finally, references for other ways to calculate ℛ0 are given. These are useful for more complicated models that, for example, take account of variations in environmental fluctuation or stochasticity. Keywords: Basic reproduction number, Disease control, West Nile virus, Cholera, Anthrax, Zika virus

  4. Reproduction and Fixed Capital

    NARCIS (Netherlands)

    van Schaik, A.B.T.M.

    2014-01-01

    In the 'sixties, the reproduction model was often the subject of analysis and discussion in economic literat­ ure. Discussion was by criticism of the neo-classical concept of capital as well as by a renewed interest in the labour theory of value. Criticism of the use of a homogeneous concept of

  5. Reproduction or opportunity

    DEFF Research Database (Denmark)

    Skrubbeltrang, Lotte Stausgaard; Karen, David; Nielsen, Jens Christian

    2016-01-01

    what key experiences and relationships lead students to abandon or sustain their interest in careers related to sports and how this differs for boys and girls. By applying Pierre Bourdieu’s concepts of habitus and types of capital, we conclude that there are elements of both reproduction...

  6. Telomeres and human reproduction.

    Science.gov (United States)

    Kalmbach, Keri Horan; Fontes Antunes, Danielle Mota; Dracxler, Roberta Caetano; Knier, Taylor Warner; Seth-Smith, Michelle Louise; Wang, Fang; Liu, Lin; Keefe, David Lawrence

    2013-01-01

    Telomeres mediate biologic aging in organisms as diverse as plants, yeast, and mammals. We propose a telomere theory of reproductive aging that posits telomere shortening in the female germ line as the primary driver of reproductive aging in women. Experimental shortening of telomeres in mice, which normally do not exhibit appreciable oocyte aging, and which have exceptionally long telomeres, recapitulates the aging phenotype of human oocytes. Telomere shortening in mice reduces synapsis and chiasmata, increases embryo fragmentation, cell cycle arrest, apoptosis, spindle dysmorphologies, and chromosome abnormalities. Telomeres are shorter in the oocytes from women undergoing in vitro fertilization, who then produce fragmented, aneuploid embryos that fail to implant. In contrast, the testes are replete with spermatogonia that can rejuvenate telomere reserves throughout the life of the man by expressing telomerase. Differences in telomere dynamics across the life span of men and women may have evolved because of the difference in the inherent risks of aging on reproduction between men and women. Additionally, growing evidence links altered telomere biology to endometriosis and gynecologic cancers, thus future studies should examine the role of telomeres in pathologies of the reproductive tract. Copyright © 2013. Published by Elsevier Inc.

  7. Selenium in reproductive health.

    Science.gov (United States)

    Mistry, Hiten D; Broughton Pipkin, Fiona; Redman, Christopher W G; Poston, Lucilla

    2012-01-01

    Selenium is an essential trace element of importance to human biology and health. Increasing evidence suggests that this mineral plays an important role in normal growth and reproduction in animals and humans, and selenium supplementation is now recommended as part of public health policy in geographical areas with severe selenium deficiency in soil. This review addresses the biological functions of selenium followed by a detailed review of associations between selenium status and reproductive health. In many countries, selenium dietary intake falls below the recommended nutrient intakes and is inadequate to support maximal expression of the selenoenzymes. Numerous reports implicate selenium deficiency in several reproductive and obstetric complications including male and female infertility, miscarriage, preeclampsia, fetal growth restriction, preterm labor, gestational diabetes, and obstetric cholestasis. Currently, there is inadequate information from the available small intervention studies to inform public health strategies. Larger intervention trials are required to reinforce or refute a beneficial role of selenium supplementation in disorders of reproductive health. Copyright © 2012 Mosby, Inc. All rights reserved.

  8. Ethics of Reproductive Engineering

    Science.gov (United States)

    Buuck, R. John

    1977-01-01

    Artificial insemination, in vitro fertilization, artificial placentas, and cloning are examined from a ethical viewpoint. The moral, social, and legal implications of reproductive engineering are considered important to biology as well as medicine. The author suggests that these ethical issues should be included in the biology curriculum and lists…

  9. Genetic engineering of mammals.

    Science.gov (United States)

    Wells, Kevin D

    2016-01-01

    Historically, genetic engineering for mammalian reproductive questions has been accomplished primarily in the mouse. However, all the genetic manipulations that can be done in the mouse can now be accomplished in most domesticated mammals. Random integration of transgenes, homologous recombination and gene editing are now routine for several mammalian species. For livestock, queries related to fertility can be asked directly for the species in question, without a need for a mouse model. For human clinical concerns, the most appropriate model should be selected based on physiology, anatomy, or even size. The mouse will continue to be a useful genetically engineered model. However, other species are now amenable to the full range of genetic manipulations and should be considered as possible models for human conditions when appropriate.

  10. [Genetic mechanism and evolutionary significance of the origin of parthenogenetic insects].

    Science.gov (United States)

    Wang, Cheng-Ye

    2011-12-01

    There is a high proportion of parthenogenesis in insecta, and the parthenogenetic potential of insects is an important but often ignored threaten factor for the agricultural and forestry production. The maintenance of parthenogenetic species is a puzzling issue in evolutionary biology. In recent years, although the cellular mechanisms during parthenogenesis in some species have been well studied, the underlying genetic mechanisms that cause the switch from sexual reproduction to parthenogenesis have not been defined. While, understanding the genetic mechanism and evolutionary significance of the origin of parthenogenetic insects is crucial for preventing the pests in agricultural and forestry production. Here we summarized recent studies aimed at identifying the underlying genetic mechanism of parthenogenesis in insects, and briefly discussed its potential application in this filed.

  11. Preparing for Assisted Reproductive Technology

    Science.gov (United States)

    ... CDC Cancel Submit Search The CDC Assisted Reproductive Technology (ART) Note: Javascript is disabled or is not ... visit this page: About CDC.gov . Assisted Reproductive Technology (ART) What Is ART Patient Resources Preparing for ...

  12. FACTORS AFFECTING PRODUCTIVE AND REPRODUCTIVE ...

    African Journals Online (AJOL)

    FACTORS AFFECTING PRODUCTIVE AND REPRODUCTIVE ... Factors contributing to milk yield, changes in body weight (BW) and body condition score ... would help reduce losses in BW, BC, production and reproductive performances.

  13. Reproductive effort decreases antibody responsiveness

    NARCIS (Netherlands)

    Deerenberg, Charlotte; Arpanius, Victor; Daan, Serge; Bos, Nicolaas

    1997-01-01

    The prevalence and intensity of parasitic infection often increases in animals when they are reproducing. This may be a consequence of increased rates of parasite transmission due to reproductive effort. Alternatively, endocrine changes associated with reproduction can lead to immunosuppression.

  14. Fish reproduction: strategies and tactics

    National Research Council Canada - National Science Library

    Potts, G. W; Wootton, R. J

    1984-01-01

    This book comprises a much needed review of recent developments and new ideas in fish reproductive biology, with special reference to the adaptive significance of reproductive patterns observed in teleost fishes...

  15. Consanguinity and reproductive health among Arabs

    Science.gov (United States)

    Tadmouri, Ghazi O; Nair, Pratibha; Obeid, Tasneem; Al Ali, Mahmoud T; Al Khaja, Najib; Hamamy, Hanan A

    2009-01-01

    Consanguineous marriages have been practiced since the early existence of modern humans. Until now consanguinity is widely practiced in several global communities with variable rates depending on religion, culture, and geography. Arab populations have a long tradition of consanguinity due to socio-cultural factors. Many Arab countries display some of the highest rates of consanguineous marriages in the world, and specifically first cousin marriages which may reach 25-30% of all marriages. In some countries like Qatar, Yemen, and UAE, consanguinity rates are increasing in the current generation. Research among Arabs and worldwide has indicated that consanguinity could have an effect on some reproductive health parameters such as postnatal mortality and rates of congenital malformations. The association of consanguinity with other reproductive health parameters, such as fertility and fetal wastage, is controversial. The main impact of consanguinity, however, is an increase in the rate of homozygotes for autosomal recessive genetic disorders. Worldwide, known dominant disorders are more numerous than known recessive disorders. However, data on genetic disorders in Arab populations as extracted from the Catalogue of Transmission Genetics in Arabs (CTGA) database indicate a relative abundance of recessive disorders in the region that is clearly associated with the practice of consanguinity. PMID:19811666

  16. Consanguinity and reproductive health among Arabs

    Directory of Open Access Journals (Sweden)

    Al Ali Mahmoud T

    2009-10-01

    Full Text Available Abstract Consanguineous marriages have been practiced since the early existence of modern humans. Until now consanguinity is widely practiced in several global communities with variable rates depending on religion, culture, and geography. Arab populations have a long tradition of consanguinity due to socio-cultural factors. Many Arab countries display some of the highest rates of consanguineous marriages in the world, and specifically first cousin marriages which may reach 25-30% of all marriages. In some countries like Qatar, Yemen, and UAE, consanguinity rates are increasing in the current generation. Research among Arabs and worldwide has indicated that consanguinity could have an effect on some reproductive health parameters such as postnatal mortality and rates of congenital malformations. The association of consanguinity with other reproductive health parameters, such as fertility and fetal wastage, is controversial. The main impact of consanguinity, however, is an increase in the rate of homozygotes for autosomal recessive genetic disorders. Worldwide, known dominant disorders are more numerous than known recessive disorders. However, data on genetic disorders in Arab populations as extracted from the Catalogue of Transmission Genetics in Arabs (CTGA database indicate a relative abundance of recessive disorders in the region that is clearly associated with the practice of consanguinity.

  17. [Current issues of assisted reproduction in the Czech Republic].

    Science.gov (United States)

    Ventruba, P; Žáková, J; Trávník, P; Crha, I; Mrázek, M; Rumpík, D; Štěpán, J; Režábek, K; Mardešić, T; Malenovská, A; Veselá, K; Brandejská, M

    2013-08-01

    Participants of the lunch table discussion held during the 22nd symposium of assisted reproduction in Brno discussed some current topics of assisted reproduction. DISCUSSED TOPICS: More than 150 participants at round tables discussed 10 topics: 1. IVF in native AR cycle,2. observation of the embryo development dynamics, 3. evaluation and support of endometrial receptivity,4. increased number of elective single embryo transfers (eSET), 5. transport of gametes and embryos in the Czech Republic and between the Czech Republic and abroad, 6. National registry of assisted reproduction,7. new view on sperm pathology, 8. problems with the SAR membership records, 9. surogacy motherhood and 10. preimplantation genetic diagnosis and preimplantation genetic screening. All findings were presented in the afternoon session. Some of the topics brought concrete results. Some topics could not be clearly concluded and will be the subject of further discussions. A brief summary of those discussion conclusions presents this paper.

  18. Reproduction-Immunity Trade-Offs in Insects.

    Science.gov (United States)

    Schwenke, Robin A; Lazzaro, Brian P; Wolfner, Mariana F

    2016-01-01

    Immune defense and reproduction are physiologically and energetically demanding processes and have been observed to trade off in a diversity of female insects. Increased reproductive effort results in reduced immunity, and reciprocally, infection and activation of the immune system reduce reproductive output. This trade-off can manifest at the physiological level (within an individual) and at the evolutionary level (genetic distinction among individuals in a population). The resource allocation model posits that the trade-off arises because of competition for one or more limiting resources, and we hypothesize that pleiotropic signaling mechanisms regulate allocation of that resource between reproductive and immune processes. We examine the role of juvenile hormone, 20-hydroxyecdysone, and insulin/insulin-like growth factor-like signaling in regulating both oogenesis and immune system activity, and propose a signaling network that may mechanistically regulate the trade-off. Finally, we discuss implications of the trade-off in an ecological and evolutionary context.

  19. variances for reproduction, egg weight and chick weight in ostriches

    African Journals Online (AJOL)

    Schalk Cloete

    Peer-reviewed paper: Joint South African Society for Animal Science/Grassland Society of Southern Africa Congress. 19. Reproduction traits were generally positively related to egg and chick weight on a genetic level (Table. 2), although only the correlations involving egg weight were significant. These results accords with ...

  20. Parameter estimates for reproductive output and product quality ...

    African Journals Online (AJOL)

    p2492989

    Several factors such as colony mating, shared nests, small flocks without genetic ties and that pairs are mated for life, ... egg and chick output (hereafter termed as reproduction) should form an integral part of the breeding objective for ..... Lack of sexual maturity and past experience could be the reason why the young hens.