143 results on '"Austerlitz, F"'
Search Results
2. A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma
- Author
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Minder, E I, Schneider-Yin, X, Mamet, R, Horev, L, Neuenschwander, S, Baumer, A, Austerlitz, F, Puy, H, and Schoenfeld, N
- Published
- 2010
- Full Text
- View/download PDF
3. Apparent mutational hotspots and long distance linkage disequilibrium resulting from a bottleneck
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TENAILLON, M. I., AUSTERLITZ, F., and TENAILLON, O.
- Published
- 2008
4. Xeroderma pigmentosum in South Africa: Evidence for a prevalent founder effect
- Author
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Kgokolo, M., primary, Morice‐Picard, F., additional, Rezvani, H. R., additional, Austerlitz, F., additional, Cartault, F., additional, Sarasin, A., additional, Sathekge, M., additional, Taieb, A., additional, and Ged, C., additional
- Published
- 2019
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- View/download PDF
5. Genetic Risk Factors of Chronic Mountain Sickness
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Richalet, J. P., Gazal, S., Espinoza, J. R., Austerlitz, F., Macarlupu, J. L., León-Velarde, Fabiola, Marchant, D., and Gouya, L.
- Subjects
Biochemistry & Molecular Biology ,Topics ,purl.org/pe-repo/ocde/ford#1.06.03 [https] ,Cell Biology ,Life Sciences & Biomedicine - Other - Abstract
Chronic mountain sickness (CMS) is a pathological condition resulting from the loss of adaptation to high altitude. The syndrome is characterized by an excessive number of red blood cells (Excessive Erythropoiesis) associated with a high concentration of hemoglobin, hypoxemia and sometimes pulmonary hypertension. In the Peruvian Andes, the estimated prevalence of this condition is higher than 10% in the adult population living above 2500 m. The pathophysiology is not yet clearly established. Alteration of the control of ventilation, especially during sleep could induce a severe hypoxemia that would trigger excessive secretion of erythropoietin (EPO), leading to increased red cell production. We collected clinical and physiological data and blood samples in a cohort of 143 CMS patients and 101 control subjects living at high altitude in Cerro de Pasco (4300m). Leukocytes DNA was extracted by salting out procedure, DNA was quantified and qualified with NanoDrop™ 2000. We performed a genome wide association study using an Illumina HumanOmni5 array (4,301,332 SNPs). CMS was associated with low arterial O2 saturation and high body mass index. We evidenced several genes that could be related to a susceptibility to develop CMS or pulmonary hypertension (ATM, NPAT, PPARGC1A, ATP9A, WWOX). These pathways revealed as submitted to recent positive selection. Moreover, the admixture level of European low lander ancestry in the genome of this population seemed to influence the occurrence of CMS and the polymorphism of selected genes. A replication study is planned to confirm our preliminary results.
- Published
- 2017
6. Estimating anisotropic pollen dispersal: a case study in Quercus lobata
- Author
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Austerlitz, F., Dutech, C., Smouse, P.E., David, F., and Sork, V.L.
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Oak -- Genetic aspects ,Pollination -- Research ,Biological sciences - Abstract
A method is described for detecting anisotropy of pollen dispersal and of gauging its intensity in Quercus lobata, which is based on the estimation of the differentiation of maternal pollen clouds (TwoGener extraction), assuming that pollen dispersal is bivariate and normally distributed. This method has helped in detecting anisotropy in pollen dispersal in natural populations and has indicated the need for greater replication, both within and among mothers.
- Published
- 2007
7. Population networks from DNA sequences: methodological developments
- Author
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Schaeffer, B., primary, Nicolas, V., additional, Austerlitz, F., additional, and Larédo, C., additional
- Published
- 2017
- Full Text
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8. Modelling the impact of colonization on genetic diversity and differentiation of forest trees: interaction of life cycle, pollen flow and seed long-distance dispersal
- Author
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Austerlitz, F. and Garnier-Gere, P. H.
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Heredity -- Research ,Heredity -- Genetic aspects ,Biological diversity -- Genetic aspects ,Trees -- Genetic aspects ,Trees -- Demographic aspects ,Life cycles (Biology) -- Genetic aspects ,Pollen -- Genetic aspects ,Seeds -- Genetic aspects ,Biological sciences - Abstract
Research has been conducted on the role of forest trees' lifespan and juvenile phase in the founder effects during colonization in a diffusive dispersal model. The authors report that long-distance dispersal events increase colonization speed.
- Published
- 2003
9. Postglacial climate changes and rise of three ecotypes of harbour porpoises, Phocoena phocoena, in western Palearctic waters
- Author
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Fontaine, C, Roland, K., Calves, I, Austerlitz, F, Palstra, P, Tolley, A, Ryan, S, Ferreira, M, Jauniaux, T., Llavona, A, Ouml, zturk, B, zturk, A, Ridoux, V, Rogan, E, Sequeira, M, Siebert, U, Vikingsson, A, Borrell, A, Michaux, R, and Aguilar, A
- Subjects
Cetacea [whales, dolphins and porpoises] ,Phocoena phocoena - Abstract
Despite no obvious barriers to gene flow in the marine realm, environmental variation and ecological specializations can lead to genetic differentiation in highly mobile predators. Here, we investigated the genetic structure of the harbour porpoise over the entire species distribution range in western Palearctic waters. Combined analyses of 10 microsatellite loci and a 5085 base-pair portion of the mitochondrial genome revealed the existence of three ecotypes, equally divergent at the mitochondrial genome, distributed in the Black Sea (BS), the European continental shelf waters, and a previously overlooked ecotype in the upwelling zones of Iberia and Mauritania. Historical demographic inferences using approximate Bayesian computation (ABC) suggest that these ecotypes diverged during the last glacial maximum (c.23-19kilo-years ago, kyrbp). ABC supports the hypothesis that the BS and upwelling ecotypes share a more recent common ancestor (c.14kyrbp) than either does with the European continental shelf ecotype (c.28kyrbp), suggesting they probably descended from the extinct populations that once inhabited the Mediterranean during the glacial and post-glacial period. We showed that the two Atlantic ecotypes established a narrow admixture zone in the Bay of Biscay during the last millennium, with highly asymmetric gene flow. This study highlights the impacts that climate change may have on the distribution and speciation process in pelagic predators and shows that allopatric divergence can occur in these highly mobile species and be a source of genetic diversity.
- Published
- 2014
10. Using genome-wide measures of coancestry to maintain diversity and fitness in endangered and domestic pig populations
- Author
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Bosse, M., Megens, H.J.W.C., Madsen, O., Crooijmans, R.P.M.A., Ryder, O.A., Austerlitz, F., Groenen, M.A.M., de Cara, M.A.R., Bosse, M., Megens, H.J.W.C., Madsen, O., Crooijmans, R.P.M.A., Ryder, O.A., Austerlitz, F., Groenen, M.A.M., and de Cara, M.A.R.
- Abstract
Conservation and breeding programs aim at maintaining the most diversity, thereby avoiding deleterious effects of inbreeding while maintaining enough variation from which traits of interest can be selected. Theoretically, the most diversity is maintained using optimal contributions based on many markers to calculate coancestries, but this can decrease fitness by maintaining linked deleterious variants. The heterogeneous patterns of coancestry displayed in pigs make them an excellent model to test these predictions. We propose methods to measure coancestry and fitness from resequencing data and use them in population management. We analyzed the resequencing data of Sus cebifrons, a highly endangered porcine species from the Philippines, and genotype data from the Pietrain domestic breed. By analyzing the demographic history of Sus cebifrons, we inferred two past bottlenecks that resulted in some inbreeding load. In Pietrain, we analyzed signatures of selection possibly associated with commercial traits. We also simulated the management of each population to assess the performance of different optimal contribution methods to maintain diversity, fitness, and selection signatures. Maximum genetic diversity was maintained using marker-by-marker coancestry, and least using genealogical coancestry. Using a measure of coancestry based on shared segments of the genome achieved the best results in terms of diversity and fitness. However, this segment-based management eliminated signatures of selection. We demonstrate that maintaining both diversity and fitness depends on the genomic distribution of deleterious variants, which is shaped by demographic and selection histories. Our findings show the importance of genomic and next-generation sequencing information in the optimal design of breeding or conservation programs
- Published
- 2015
11. Sociocultural behavior, sex-biased admixture, and effective population sizes in Central African pygmies and non-pygmies
- Author
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Verdu, P., Becker, N.S.A., Froment, Alain, Georges, M., Grugni, V., Quintana-Murci, L., Hombert, J. M., Van der Veen, L., Le Bomin, S., Bahuchet, S., Heyer, E., and Austerlitz, F.
- Subjects
approximate Bayesian computation ,demography ,sex specific ,human population genetics ,African Pygmy ,history - Abstract
Sociocultural phenomena, such as exogamy or phylopatry, can largely determine human sex-specific demography. In Central Africa, diverging patterns of sex-specific genetic variation have been observed between mobile hunter-gatherer Pygmies and sedentary agricultural non-Pygmies. However, their sex-specific demography remains largely unknown. Using population genetics and approximate Bayesian computation approaches, we inferred male and female effective population sizes, sex-specific migration, and admixture rates in 23 Central African Pygmy and non-Pygmy populations, genotyped for autosomal, X-linked, Y-linked, and mitochondrial markers. We found much larger effective population sizes and migration rates among non-Pygmy populations than among Pygmies, in agreement with the recent expansions and migrations of non-Pygmies and, conversely, the isolation and stationary demography of Pygmy groups. We found larger effective sizes and migration rates for males than for females for Pygmies, and vice versa for non-Pygmies. Thus, although most Pygmy populations have patrilocal customs, their sex-specific genetic patterns resemble those of matrilocal populations. In fact, our results are consistent with a lower prevalence of polygyny and patrilocality in Pygmies compared with non-Pygmies and a potential female transmission of reproductive success in Pygmies. Finally, Pygmy populations showed variable admixture levels with the non-Pygmies, with often much larger introgression from male than from female lineages. Social discrimination against Pygmies triggering complex movements of spouses in intermarriages can explain these male-biased admixture patterns in a patrilocal context. We show how gender-related sociocultural phenomena can determine highly variable sex-specific demography among populations, and how population genetic approaches contrasting chromosomal types allow inferring detailed human sex-specific demographic history.
- Published
- 2013
12. Sex-specific demographic behaviours that shape human genomic variation
- Author
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Heyer, E., Chaix, R., Pavard, S., Austerlitz, F., École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL), Nexans France, Nexans, Eco-Anthropologie et Ethnobiologie (EAE), Centre National de la Recherche Scientifique (CNRS)-Muséum national d'Histoire naturelle (MNHN)-Université Paris Diderot - Paris 7 (UPD7), and Muséum national d'Histoire naturelle (MNHN)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Diderot - Paris 7 (UPD7)
- Subjects
Male ,Sex Characteristics ,Chromosomes, Human, Y ,Polymorphism, Genetic ,Genome, Human ,[SDV.BID.EVO]Life Sciences [q-bio]/Biodiversity/Populations and Evolution [q-bio.PE] ,Reproduction ,Sexual Behavior ,Population ,Emigration and Immigration ,DNA, Mitochondrial ,Humans ,Female ,Demography - Abstract
International audience; In the human species, the two uniparental genetic systems (mitochondrial DNA and Y chromosome) exhibit contrasting diversity patterns. It has been proposed that sex-specific behaviours, and in particular differences in migration rate between men and women, may explain these differences. The availability of high-density genomic data and the comparison of genetic patterns on autosomal and sex chromosomes at global and local scales allow a reassessment of the extent to which sex-specific behaviours shape our genome. In this article, we first review studies comparing the genetic patterns at uniparental and biparental genetic systems and assess the extent to which sex-specific migration processes explain the differences between these genetic systems. We show that differences between male and female migration rates matter, but that they are certainly not the only contributing factor. In particular, differences in effective population size between men and women are also likely to account for these differences. Then, we present and discuss three anthropological processes that may explain sex-specific differences in effective population size and thus human genomic variation: (i) variance in reproductive success arising from, for example, polygyny; (ii) descent rules; and (iii) transmission of reproductive success.
- Published
- 2012
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13. DNA barcode analysis: a comparison between phylogenetic and statistical classification methods
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Larédo, C., Austerlitz, F., David, O., Schaeffer, B., Bleakley, K., Olteanu, M., Leblois, R., Veuille, M., Laboratoire de Probabilités et Modèles Aléatoires (LPMA), Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), and Benassù, Serena
- Subjects
[MATH.MATH-PR]Mathematics [math]/Probability [math.PR] ,[MATH.MATH-PR] Mathematics [math]/Probability [math.PR] - Abstract
http://www.biomedcentral.com/bmcbioinformatics/
- Published
- 2009
14. Sex-specific demographic behaviours that shape human genomic variation
- Author
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HEYER, E., primary, CHAIX, R., additional, PAVARD, S., additional, and AUSTERLITZ, F., additional
- Published
- 2011
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15. Fine-scale spatial genetic structure and gene dispersal in Silene latifolia
- Author
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Barluenga, M, primary, Austerlitz, F, additional, Elzinga, J A, additional, Teixeira, S, additional, Goudet, J, additional, and Bernasconi, G, additional
- Published
- 2010
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16. The P28T Mutilation in the GALK1 Gene Accounts for Galactokinase Deficiency in Roma (Gypsy) Patients Across Europe
- Author
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Hunter, Michael, Hunter, Michael, Heyer, E, Austerlitz, F, Angelicheva, Dora, Nedkova, Vania, Briones, P, Gata, A, de Pablo, R, Laszlo, A, Bosshard, N, Gitzelmann, Richard, Tordai, A, Kalmar, L, Szalai, C, Balogh, I, Lupu, C, Corches, Axinia, Popa, G, Perez-Lezaun, A, Kalaydjieva, Luborodna, Hunter, Michael, Hunter, Michael, Heyer, E, Austerlitz, F, Angelicheva, Dora, Nedkova, Vania, Briones, P, Gata, A, de Pablo, R, Laszlo, A, Bosshard, N, Gitzelmann, Richard, Tordai, A, Kalmar, L, Szalai, C, Balogh, I, Lupu, C, Corches, Axinia, Popa, G, Perez-Lezaun, A, and Kalaydjieva, Luborodna
- Published
- 2002
17. Proceedings of the Society
- Author
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Whewell, C. S., primary and Austerlitz, F., additional
- Published
- 2008
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18. High paternal diversity in the self‐incompatible herb Arabidopsis halleri despite clonal reproduction and spatially restricted pollen dispersal
- Author
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LLAURENS, V., primary, CASTRIC, V., additional, AUSTERLITZ, F., additional, and VEKEMANS, X., additional
- Published
- 2008
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19. Modelling and estimating pollen movement in oilseed rape (Brassica napus) at the landscape scale using genetic markers
- Author
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DEVAUX, C., primary, LAVIGNE, C., additional, AUSTERLITZ, F., additional, and KLEIN, E. K., additional
- Published
- 2007
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20. Vlax Roma history: what do coalescent-based methods tell us?
- Author
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Chaix, R, primary, Austerlitz, F, additional, Morar, B, additional, Kalaydjieva, L, additional, and Heyer, E, additional
- Published
- 2004
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21. Pollen flow in the wildservice tree,Sorbus torminalis(L.) Crantz. I. Evaluating the paternity analysis procedure in continuous populations
- Author
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Oddou‐Muratorio, S., primary, Houot, M.‐L., additional, Demesure‐Musch, B., additional, and Austerlitz, F., additional
- Published
- 2003
- Full Text
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22. Sampling within the genome for measuring within-population diversity: trade-offs between markers
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Mariette, S., primary, Le Corre, V., additional, Austerlitz, F., additional, and Kremer, A., additional
- Published
- 2002
- Full Text
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23. Les Canadiens francophones du Québec : effet fondateur et maladies génétiques
- Author
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Heyer, E., primary, Austerlitz, F., additional, and Labuda, D., additional
- Published
- 2001
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24. Fine-scale spatial genetic structure and gene dispersal in Silene latifolia.
- Author
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Barluenga, M., Austerlitz, F., Elzinga, J. A., Teixeira, S., Goudet, J., and Bernasconi, G.
- Subjects
- *
SILENE (Genus) , *SEEDS , *POLLEN , *PERENNIALS , *MICROSATELLITE repeats - Abstract
Plants are sessile organisms, often characterized by limited dispersal. Seeds and pollen are the critical stages for gene flow. Here we investigate spatial genetic structure, gene dispersal and the relative contribution of pollen vs seed in the movement of genes in a stable metapopulation of the white campion Silene latifolia within its native range. This short-lived perennial plant is dioecious, has gravity-dispersed seeds and moth-mediated pollination. Direct measures of pollen dispersal suggested that large populations receive more pollen than small isolated populations and that most gene flow occurs within tens of meters. However, these studies were performed in the newly colonized range (North America) where the specialist pollinator is absent. In the native range (Europe), gene dispersal could fall on a different spatial scale. We genotyped 258 individuals from large and small (15) subpopulations along a 60 km, elongated metapopulation in Europe using six highly variable microsatellite markers, two X-linked and four autosomal. We found substantial genetic differentiation among subpopulations (global FST=0.11) and a general pattern of isolation by distance over the whole sampled area. Spatial autocorrelation revealed high relatedness among neighboring individuals over hundreds of meters. Estimates of gene dispersal revealed gene flow at the scale of tens of meters (5-30 m), similar to the newly colonized range. Contrary to expectations, estimates of dispersal based on X and autosomal markers showed very similar ranges, suggesting similar levels of pollen and seed dispersal. This may be explained by stochastic events of extensive seed dispersal in this area and limited pollen dispersal. [ABSTRACT FROM AUTHOR]
- Published
- 2011
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25. Pollen flow in the wildservice tree, Sorbus torminalis (L.) Crantz. I. Evaluating the paternity analysis procedure in continuous populations.
- Author
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Oddou-Muratorio, S., Houot, M.-L., Demesure-Musch, B., and Austerlitz, F.
- Subjects
SORBUS ,POLLEN ,PLANT genetics ,TREES ,PLANT populations ,PLANT breeding - Abstract
The joint development of polymorphic molecular markers and paternity analysis methods provides new approaches to investigate ongoing patterns of pollen flow in natural plant populations. However, paternity studies are hindered by false paternity assignment and the nondetection of true fathers. To gauge the risk of these two types of errors, we performed a simulation study to investigate the impact on paternity analysis of: (i) the assumed values for the size of the breeding male population ( N
BMP ), and (ii) the rate of scoring error in genotype assessment. Our simulations were based on microsatellite data obtained from a natural population of the entomophilous wild service tree, Sorbus torminalis (L.) Crantz. We show that an accurate estimate of NBMP is required to minimize both types of errors, and we assess the reliability of a technique used to estimate NBMP based on parent–offspring genetic data. We then show that scoring errors in genotype assessment only slightly affect the assessment of paternity relationships, and conclude that it is generally better to neglect the scoring error rate in paternity analyses within a nonisolated population. [ABSTRACT FROM AUTHOR]- Published
- 2003
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26. Lactase Persistence in Central Asia: Phenotype, Genotype, and Evolution
- Author
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Heyer, Evelyne, Brazier, Lionel, Ségurel, Laure, Hegay, Tatiana, Austerlitz, Frédéric, Quintana-Murci, Lluis, Georges, Myriam, Pasquet, Patrick, and Veuille, Michel
- Published
- 2011
27. Update to Heyer's "One Founder/One Gene Hypothesis in a New Expanding Population" (1999)
- Author
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Heyer, Evelyne and Austerlitz, Frederic
- Published
- 2010
28. Cultural transmission of reproductive success impacts genomic diversity, coalescent tree topologies, and demographic inferences.
- Author
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Guez J, Achaz G, Bienvenu F, Cury J, Toupance B, Heyer É, Jay F, and Austerlitz F
- Subjects
- Animals, Child, Humans, Reproduction genetics, Genomics, Demography, Phylogeny, Trees, Models, Genetic
- Abstract
Cultural transmission of reproductive success has been observed in many human populations as well as other animals. Cultural transmission of reproductive success consists of a positive correlation of nongenetic origin between the progeny size of parents and children. This correlation can result from various factors, such as the social influence of parents on their children, the increase of children's survival through allocare from uncles and aunts, or the transmission of resources. Here, we study the evolution of genomic diversity over time under cultural transmission of reproductive success. Cultural transmission of reproductive success has a threefold impact on population genetics: (1) the effective population size decreases when cultural transmission of reproductive success starts, mimicking a population contraction, and increases back to its original value when cultural transmission of reproductive success stops; (2) coalescent tree topologies are distorted under cultural transmission of reproductive success, with higher imbalance and a higher number of polytomies; and (3) branch lengths are reduced nonhomogenously, with a higher impact on older branches. Under long-lasting cultural transmission of reproductive success, the effective population size stabilizes but the distortion of tree topology and the nonhomogenous branch length reduction remain, yielding U-shaped site frequency spectra under a constant population size. We show that this yields a bias in site frequency spectra-based demographic inference. Considering that cultural transmission of reproductive success was detected in numerous human and animal populations worldwide, one should be cautious because inferring population past histories from genomic data can be biased by this cultural process., Competing Interests: Conflicts of interest The authors declare no conflict of interest., (© The Author(s) 2023. Published by Oxford University Press on behalf of the Genetics Society of America. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)
- Published
- 2023
- Full Text
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29. Machine learning in molecular ecology.
- Author
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Fountain-Jones NM, Smith ML, and Austerlitz F
- Subjects
- Ecology, Machine Learning
- Published
- 2021
- Full Text
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30. Polygenic Adaptation: Integrating Population Genetics and Gene Regulatory Networks.
- Author
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Fagny M and Austerlitz F
- Subjects
- Adaptation, Physiological genetics, Genetic Variation genetics, Humans, Multifactorial Inheritance genetics, Selection, Genetic genetics, Evolution, Molecular, Gene Regulatory Networks genetics, Genetics, Population, Quantitative Trait Loci genetics
- Abstract
The adaptation of populations to local environments often relies on the selection of optimal values for polygenic traits. Here, we first summarize the results obtained from different quantitative genetics and population genetics models, about the genetic architecture of polygenic traits and their response to directional selection. We then highlight the contribution of systems biology to the understanding of the molecular bases of polygenic traits and the evolution of gene regulatory networks involved in these traits. Finally, we discuss the need for a unifying framework merging the fields of population genetics, quantitative genetics and systems biology to better understand the molecular bases of polygenic traits adaptation., (Copyright © 2021 The Authors. Published by Elsevier Ltd.. All rights reserved.)
- Published
- 2021
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31. No evidence for female kin association, indications for extragroup paternity, and sex-biased dispersal patterns in wild western gorillas.
- Author
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Masi S, Austerlitz F, Chabaud C, Lafosse S, Marchi N, Georges M, Dessarps-Freichey F, Miglietta S, Sotto-Mayor A, Galli AS, Meulman E, Pouydebat E, Krief S, Todd A, Fuh T, Breuer T, and Ségurel L
- Abstract
Characterizing animal dispersal patterns and the rational behind individuals' transfer choices is a long-standing question of interest in evolutionary biology. In wild western gorillas ( Gorilla gorilla ), a one-male polygynous species, previous genetic findings suggested that, when dispersing, females might favor groups with female kin to promote cooperation, resulting in higher-than-expected within-group female relatedness. The extent of male dispersal remains unclear with studies showing conflicting results. To investigate male and female dispersal patterns and extragroup paternity, we analyzed long-term field observations, including female spatial proximity data, together with genetic data (10 autosomal microsatellites) on individuals from a unique set of four habituated western gorilla groups, and four additional extragroup males (49 individuals in total). The majority of offspring (25 of 27) were sired by the group male. For two offspring, evidence for extragroup paternity was found. Contrarily to previous findings, adult females were not significantly more related within groups than across groups. Consistently, adult female relatedness within groups did not correlate with their spatial proximity inferred from behavioral data. Adult females were similarly related to adult males from their group than from other groups. Using R
ST statistics, we found significant genetic structure and a pattern of isolation by distance, indicating limited dispersal in this species. Comparing relatedness among females and among males revealed that males disperse farer than females, as expected in a polygamous species. Our study on habituated western gorillas shed light on the dispersal dynamics and reproductive behavior of this polygynous species and challenge some of the previous results based on unhabituated groups., Competing Interests: The authors declare to have no conflicts of interest., (© 2021 The Authors. Ecology and Evolution published by John Wiley & Sons Ltd.)- Published
- 2021
- Full Text
- View/download PDF
32. Sharing and reporting benefits from biodiversity research.
- Author
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Marden E, Abbott RJ, Austerlitz F, Ortiz-Barrientos D, Baucom RS, Bongaerts P, Bonin A, Bonneaud C, Browne L, Alex Buerkle C, Caicedo AL, Coltman DW, Cruzan MB, Davison A, DeWoody JA, Dumbrell AJ, Emerson BC, Fountain-Jones NM, Gillespie R, Giraud T, Hansen MM, Hodgins KA, Heuertz M, Hirase S, Hooper R, Hohenlohe P, Kane NC, Kelley JL, Kinziger AP, McKenzie VJ, Moreau CS, Nazareno AG, Pelletier TA, Pemberton JM, Qu Y, Renaut S, Riginos C, Rodríguez-Ezpeleta N, Rogers SM, Russell JA, Schoville SD, Shi S, Smith M, Sork VL, Stone GN, Taberlet P, Videvall E, Waits L, Warschefsky E, Wayne RK, Whibley A, Willoughby J, Yoder JB, Zinger L, Sibbett B, Narum S, and Rieseberg LH
- Subjects
- Biodiversity, Conservation of Natural Resources
- Published
- 2021
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33. Sahelian pastoralism from the perspective of variants associated with lactase persistence.
- Author
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Priehodová E, Austerlitz F, Čížková M, Nováčková J, Ricaut FX, Hofmanová Z, Schlebusch CM, and Černý V
- Subjects
- Africa, Northern, Animals, Anthropology, Physical, Arabs genetics, Arabs statistics & numerical data, Diet, Haplotypes, Humans, Milk, Transients and Migrants, White People genetics, White People statistics & numerical data, Black People genetics, Black People statistics & numerical data, Ethnicity genetics, Ethnicity statistics & numerical data, Lactase genetics, Polymorphism, Single Nucleotide genetics
- Abstract
Objectives: Archeological evidence shows that first nomadic pastoralists came to the African Sahel from northeastern Sahara, where milking is reported by ~7.5 ka. A second wave of pastoralists arrived with the expansion of Arabic tribes in 7th-14th century CE. All Sahelian pastoralists depend on milk production but genetic diversity underlying their lactase persistence (LP) is poorly understood., Materials and Methods: We investigated SNP variants associated with LP in 1,241 individuals from 29 mostly pastoralist populations in the Sahel. Then, we analyzed six SNPs in the neighboring fragment (419 kb) in the Fulani and Tuareg with the -13910*T mutation, reconstructed haplotypes, and calculated expansion age and growth rate of this variant., Results: Our results reveal a geographic localization of two different LP variants in the Sahel: -13910*T west of Lake Chad (Fulani and Tuareg pastoralists) and -13915*G east of there (mostly Arabic-speaking pastoralists). We show that -13910*T has a more diversified haplotype background among the Fulani than among the Tuareg and that the age estimate for expansion of this variant among the Fulani (~8.5 ka) corresponds to introduction of cattle to the area., Conclusions: This is the first study showing that the "Eurasian" LP allele -13910*T is widespread both in northern Europe and in the Sahel; however, it is limited to pastoralists in the Sahel. Since the Fulani haplotype with -13910*T is shared with contemporary Eurasians, its origin could be in a region encompassing the Near East and northeastern Africa in a population ancestral to both Saharan pastoralists and European farmers., (© 2020 Wiley Periodicals LLC.)
- Published
- 2020
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34. The Genetic Architecture of Chronic Mountain Sickness in Peru.
- Author
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Gazal S, Espinoza JR, Austerlitz F, Marchant D, Macarlupu JL, Rodriguez J, Ju-Preciado H, Rivera-Chira M, Hermine O, Leon-Velarde F, Villafuerte FC, Richalet JP, and Gouya L
- Abstract
Chronic mountain sickness (CMS) is a pathological condition resulting from chronic exposure to high-altitude hypoxia. While its prevalence is high in native Andeans (>10%), little is known about the genetic architecture of this disease. Here, we performed the largest genome-wide association study (GWAS) of CMS (166 CMS patients and 146 controls living at 4,380 m in Peru) to detect genetic variants associated with CMS. We highlighted four new candidate loci, including the first CMS-associated variant reaching GWAS statistical significance (rs7304081; P = 4.58 × 10
-9 ). By looking at differentially expressed genes between CMS patients and controls around these four loci, we suggested AEBP2 , CAST , and MCTP2 as candidate CMS causal genes. None of the candidate loci were under strong natural selection, consistent with the observation that CMS affects fitness mainly after the reproductive years. Overall, our results reveal new insights on the genetic architecture of CMS and do not provide evidence that CMS-associated variants are linked to a strong ongoing adaptation to high altitude.- Published
- 2019
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35. An ABC Method for Whole-Genome Sequence Data: Inferring Paleolithic and Neolithic Human Expansions.
- Author
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Jay F, Boitard S, and Austerlitz F
- Subjects
- Bayes Theorem, Humans, Whole Genome Sequencing, Genetics, Population methods, Genome, Human, Human Migration, Models, Genetic
- Abstract
Species generally undergo a complex demographic history consisting, in particular, of multiple changes in population size. Genome-wide sequencing data are potentially highly informative for reconstructing this demographic history. A crucial point is to extract the relevant information from these very large data sets. Here, we design an approach for inferring past demographic events from a moderate number of fully sequenced genomes. Our new approach uses Approximate Bayesian Computation, a simulation-based statistical framework that allows 1) identifying the best demographic scenario among several competing scenarios and 2) estimating the best-fitting parameters under the chosen scenario. Approximate Bayesian Computation relies on the computation of summary statistics. Using a cross-validation approach, we show that statistics such as the lengths of haplotypes shared between individuals, or the decay of linkage disequilibrium with distance, can be combined with classical statistics (e.g., heterozygosity and Tajima's D) to accurately infer complex demographic scenarios including bottlenecks and expansion periods. We also demonstrate the importance of simultaneously estimating the genotyping error rate. Applying our method on genome-wide human-sequence databases, we finally show that a model consisting in a bottleneck followed by a Paleolithic and a Neolithic expansion is the most relevant for Eurasian populations., (© The Author(s) 2019. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)
- Published
- 2019
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36. An evaluation of the methods to estimate effective population size from measures of linkage disequilibrium.
- Author
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García-Cortés LA, Austerlitz F, and de Cara MAR
- Subjects
- Algorithms, Genetic Techniques, Linkage Disequilibrium, Population Density
- Abstract
In 1971, John Sved derived an approximate relationship between linkage disequilibrium (LD) and effective population size for an ideal finite population. This seminal work was extended by Sved and Feldman (Theor Pop Biol 4, 129, 1973) and Weir and Hill (Genetics 95, 477, 1980) who derived additional equations with the same purpose. These equations yield useful estimates of effective population size, as they require a single sample in time. As these estimates of effective population size are now commonly used on a variety of genomic data, from arrays of single nucleotide polymorphisms to whole genome data, some authors have investigated their bias through simulation studies and proposed corrections for different mating systems. However, the cause of the bias remains elusive. Here, we show the problems of using LD as a statistical measure and, analogously, the problems in estimating effective population size from such measure. For that purpose, we compare three commonly used approaches with a transition probability-based method that we develop here. It provides an exact computation of LD. We show here that the bias in the estimates of LD and effective population size are partly due to low-frequency markers, tightly linked markers or to a small total number of crossovers per generation. These biases, however, do not decrease when increasing sample size or using unlinked markers. Our results show the issues of such measures of effective population based on LD and suggest which of the method here studied should be used in empirical studies as well as the optimal distance between markers for such estimates., (© 2019 European Society For Evolutionary Biology. Journal of Evolutionary Biology © 2019 European Society For Evolutionary Biology.)
- Published
- 2019
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37. Neutral Theory: From Complex Population History to Natural Selection and Sociocultural Phenomena in Human Populations.
- Author
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Austerlitz F and Heyer E
- Subjects
- Culture, Humans, Evolution, Molecular, Genetic Drift, Selection, Genetic
- Abstract
Here, we present a synthetic view on how Kimura's Neutral theory has helped us gaining insight on the different evolutionary forces that shape human evolution. We put this perspective in the frame of recent emerging challenges: the use of whole genome data for reconstructing population histories, natural selection on complex polygenic traits, and integrating cultural processes in human evolution.
- Published
- 2018
- Full Text
- View/download PDF
38. Cryptic Biological Invasions: a General Model of Hybridization.
- Author
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Quilodrán CS, Austerlitz F, Currat M, and Montoya-Burgos JI
- Subjects
- Alleles, Animals, Conservation of Natural Resources, Ducks classification, Ecology, Female, Genotype, Male, Mating Preference, Animal, New Zealand, Phenotype, Selection, Genetic, Ducks genetics, Genetics, Population, Hybridization, Genetic, Introduced Species, Models, Genetic
- Abstract
The dispersal of non-native genes due to hybridization is a form of cryptic invasion with growing concern in evolution and conservation. This includes the spread of transgenic genes and antibiotic resistance. To investigate how genes and phenotypes are transmitted, we developed a general model that, for the first time, considers concurrently: multiple loci, quantitative and qualitative gene expression, assortative mating, dominance/recessivity inheritance and density-dependent demographic effects. Selection acting on alleles or genotypes can also be incorporated. Our results reveal that the conclusions about how hybridization threatens a species can be biased if they are based on single-gene models, while considering two or more genes can correct this bias. We also show that demography can amplify or balance the genetic effects, evidencing the need of jointly incorporating both processes. By implementing our model in a real case, we show that mallard ducks introduced in New Zealand benefit from hybridization to replace native grey-ducks. Total displacement can take a few generations and occurs by interspecific competition and by competition between hybrids and natives, demonstrating how hybridization may facilitate biological invasions. We argue that our general model represents a powerful tool for the study of a wide range of biological and societal questions.
- Published
- 2018
- Full Text
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39. Genetic and linguistic histories in Central Asia inferred using approximate Bayesian computations.
- Author
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Thouzeau V, Mennecier P, Verdu P, and Austerlitz F
- Subjects
- Asia, Bayes Theorem, Genetic Variation, Humans, Software, Genetics, Population, Language
- Abstract
Linguistic and genetic data have been widely compared, but the histories underlying these descriptions are rarely jointly inferred. We developed a unique methodological framework for analysing jointly language diversity and genetic polymorphism data, to infer the past history of separation, exchange and admixture events among human populations. This method relies on approximate Bayesian computations that enable the identification of the most probable historical scenario underlying each type of data, and to infer the parameters of these scenarios. For this purpose, we developed a new computer program PopLingSim that simulates the evolution of linguistic diversity, which we coupled with an existing coalescent-based genetic simulation program, to simulate both linguistic and genetic data within a set of populations. Applying this new program to a wide linguistic and genetic dataset of Central Asia, we found several differences between linguistic and genetic histories. In particular, we showed how genetic and linguistic exchanges differed in the past in this area: some cultural exchanges were maintained without genetic exchanges. The methodological framework and the linguistic simulation tool developed here can be used in future work for disentangling complex linguistic and genetic evolutions underlying human biological and cultural histories., (© 2017 The Author(s).)
- Published
- 2017
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40. Trait level analysis of multitrait population projection matrices.
- Author
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Coste CFD, Austerlitz F, and Pavard S
- Subjects
- Age Factors, Animals, Female, Population Dynamics, Population Forecast, Pregnancy, Fertility genetics, Models, Genetic, Parity genetics, Phenotype
- Abstract
In most matrix population projection models, individuals are characterized according to, usually, one or two traits such as age, stage, size or location. A broad theory of multitrait population projection matrices (MPPMs) incorporating larger number of traits was long held back by time and space computational complexity issues. As a consequence, no study has yet focused on the influence of the structure of traits describing a life-cycle on population dynamics and life-history evolution. We present here a novel vector-based MPPM building methodology that allows to computationally-efficiently model populations characterized by numerous traits with large distributions, and extend sensitivity analyses for these models. We then present a new method, the trait level analysis consisting in folding an MPPM on any of its traits to create a matrix with alternative trait structure (the number of traits and their characteristics) but similar asymptotic properties. Adding or removing one or several traits to/from the MPPM and analyzing the resulting changes in spectral properties, allows investigating the influence of the trait structure on the evolution of traits. We illustrate this by modeling a 3-trait (age, parity and fecundity) population designed to investigate the implications of parity-fertilitytrade-offs in a context of fecundity heterogeneity in humans. The trait level analysis, comparing models of the same population differing in trait structures, demonstrates that fertility selection gradients differ between cases with or without parity-fertility trade-offs. Moreover it shows that age-specific fertility has seemingly very different evolutionary significance depending on whether heterogeneity is accounted for. This is because trade-offs can vary strongly in strength and even direction depending on the trait structure used to model the population., (Copyright © 2017 Elsevier Inc. All rights reserved.)
- Published
- 2017
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41. The historical spread of Arabian Pastoralists to the eastern African Sahel evidenced by the lactase persistence -13,915*G allele and mitochondrial DNA.
- Author
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Priehodová E, Austerlitz F, Čížková M, Mokhtar MG, Poloni ES, and Černý V
- Subjects
- Arabs genetics, Chad, Haplotypes, Humans, Sudan, DNA, Mitochondrial genetics, Human Migration, Lactase genetics, Polymorphism, Single Nucleotide, Transients and Migrants
- Abstract
Objectives: Thanks to the ability to digest lactose, Arabian nomads had become less dependent upon their sedentary neighbors and some of these populations spread to Africa. When and by which route they migrated to their current locations have previously been addressed only by historical and archaeological data., Methods: To address the question of Arab expansion into Africa, we collected samples from several Arabic populations, especially the Baggara in Chad and Sudan. We analyzed mutations associated with lactase persistence and reconstructed the surrounding haplotypes defined by SNP polymorphisms. We also sequenced their mitochondrial DNA to investigate relative proportions of sub-Saharan and Eurasian origins., Results: We estimated the expansion age of the -13,915*G mutation in four different Arabian datasets. The oldest age was identified in Yemen (1,356-1,799 ya) and the youngest in a Sudanese group of Rashaayda Arabs (219-312 ya). We also found a negative correlation between the frequency of the -13,915*G allele and the frequency of sub-Saharan mtDNA haplotypes., Conclusions: Even if the age of the most recent common ancestor of -13,915*G is ∼4 ka as shown in a previous study, our results suggest that its spread to Africa was more recent, which is consistent with the migrations of Arabic tribes. Because the incidence of sub-Saharan mtDNA haplotypes is negatively correlated with the occurrence of -13,915*G, we suggest that the decrease of its frequency in Africa has been caused by progressive admixture of the Arabian nomads with sub-Saharan populations., (© 2017 Wiley Periodicals, Inc.)
- Published
- 2017
- Full Text
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42. Different kinds of genetic markers permit inference of Paleolithic and Neolithic expansions in humans.
- Author
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Aimé C and Austerlitz F
- Subjects
- Evolution, Molecular, Genetic Markers, Humans, Human Migration, Microsatellite Repeats, Models, Genetic, Population genetics
- Abstract
Recent population genetic studies have provided valuable insights on the demographic history of our species. However, some issues such as the dating of the first demographic expansions in human populations remain puzzling. Indeed, although a few genetic studies argued that the first human expansions were concomitant with the Neolithic transition, many others found signals of expansion events starting during the Palaeolithic. Here we performed a simulation study to show that these contradictory findings may result from the differences in the genetic markers used, especially if two successive expansion events occurred. For a large majority of replicates for each scenario tested, microsatellite data allow only detecting the recent expansion event in that case, whereas sequence data allow only detecting the ancient expansion. Combined with previous real data analyses, our results bring support to the ideas that (i) a first human expansions started during the Palaeolithic period, (ii) a second expansion event occurred later, concomitantly with the Neolithic transition.
- Published
- 2017
- Full Text
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43. Inferring Population Size History from Large Samples of Genome-Wide Molecular Data - An Approximate Bayesian Computation Approach.
- Author
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Boitard S, Rodríguez W, Jay F, Mona S, and Austerlitz F
- Subjects
- Alleles, Animals, Bayes Theorem, Cattle, Polymorphism, Single Nucleotide, Breeding, Genetics, Population, Linkage Disequilibrium genetics, Population Density
- Abstract
Inferring the ancestral dynamics of effective population size is a long-standing question in population genetics, which can now be tackled much more accurately thanks to the massive genomic data available in many species. Several promising methods that take advantage of whole-genome sequences have been recently developed in this context. However, they can only be applied to rather small samples, which limits their ability to estimate recent population size history. Besides, they can be very sensitive to sequencing or phasing errors. Here we introduce a new approximate Bayesian computation approach named PopSizeABC that allows estimating the evolution of the effective population size through time, using a large sample of complete genomes. This sample is summarized using the folded allele frequency spectrum and the average zygotic linkage disequilibrium at different bins of physical distance, two classes of statistics that are widely used in population genetics and can be easily computed from unphased and unpolarized SNP data. Our approach provides accurate estimations of past population sizes, from the very first generations before present back to the expected time to the most recent common ancestor of the sample, as shown by simulations under a wide range of demographic scenarios. When applied to samples of 15 or 25 complete genomes in four cattle breeds (Angus, Fleckvieh, Holstein and Jersey), PopSizeABC revealed a series of population declines, related to historical events such as domestication or modern breed creation. We further highlight that our approach is robust to sequencing errors, provided summary statistics are computed from SNPs with common alleles.
- Published
- 2016
- Full Text
- View/download PDF
44. Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations.
- Author
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Dusatkova P, Pfäffle R, Brown MR, Akulevich N, Arnhold IJ, Kalina MA, Kot K, Krzisnik C, Lemos MC, Malikova J, Navardauskaite R, Obermannova B, Pribilincova Z, Sallai A, Stipancic G, Verkauskiene R, Cinek O, Blum WF, Parks JS, Austerlitz F, and Lebl J
- Subjects
- Humans, Prevalence, Software, Genetic Predisposition to Disease, Haplotypes genetics, Homeodomain Proteins genetics, Hypopituitarism genetics, Mutation genetics
- Abstract
Two variants (c.[301_302delAG];[301_302delAG] and c.[150delA];[150delA]) in the PROP1 gene are the most common genetic causes of recessively inherited combined pituitary hormones deficiency (CPHD). Our objective was to analyze in detail the origin of the two most prevalent variants. In the multicentric study were included 237 patients with CPHD and their 15 relatives carrying c.[301_302delAG];[301_302delAG] or c.[150delA];[150delA] or c.[301_302delAG];[ 150delA]. They originated from 21 different countries worldwide. We genotyped 21 single-nucleotide variant markers flanking the 9.6-Mb region around the PROP1 gene that are not in mutual linkage disequilibrium in the general populations--a finding of a common haplotype would be indicative of ancestral origin of the variant. Haplotypes were reconstructed by Phase and Haploview software, and the variant age was estimated using an allelic association method. We demonstrated the ancestral origin of both variants--c.[301_302delAG] was carried on 0.2 Mb-long haplotype in a majority of European patients arising ~101 generations ago (confidence interval 90.1-116.4). Patients from the Iberian Peninsula displayed a different haplotype, which was estimated to have emerged 23.3 (20.1-29.1) generations ago. Subsequently, the data indicated that both the haplotypes were transmitted to Latin American patients ~13.8 (12.2-17.0) and 16.4 (14.4-20.1) generations ago, respectively. The c.[150delA] variant that was carried on a haplotype spanning about 0.3 Mb was estimated to appear 43.7 (38.4-52.7) generations ago. We present strong evidence that the most frequent variants in the PROP1 gene are not a consequence of variant hot spots as previously assumed, but are founder variants.
- Published
- 2016
- Full Text
- View/download PDF
45. Microsatellite data show recent demographic expansions in sedentary but not in nomadic human populations in Africa and Eurasia.
- Author
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Aime C, Verdu P, Ségurel L, Martinez-Cruz B, Hegay T, Heyer E, and Austerlitz F
- Published
- 2015
- Full Text
- View/download PDF
46. Patrilineal populations show more male transmission of reproductive success than cognatic populations in Central Asia, which reduces their genetic diversity.
- Author
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Heyer E, Brandenburg JT, Leonardi M, Toupance B, Balaresque P, Hegay T, Aldashev A, and Austerlitz F
- Subjects
- DNA, Mitochondrial genetics, Female, Genetics, Population, Humans, Male, Reproduction, Asian People genetics, Chromosomes, Human, Y genetics, Evolution, Molecular, Genetic Fitness genetics, Genetic Variation genetics
- Abstract
Objective: The extent to which social organization of human societies impacts the patterns of genetic diversity remains an open question. Here, we investigate the transmission of reproductive success in patrilineal and cognatic populations from Central Asia using a coalescent approach., Methods: We performed a study on the mitochondrial DNA (mtDNA) and Y chromosome polymorphism of patrilineal and cognatic populations from Central Asia. We reconstructed the gene genealogies in each population for both kind of markers and inferred the imbalance level of these genealogies, a parameter directly related to the level of transmission of reproductive success., Results: This imbalance level appeared much stronger for the Y chromosome in patrilineal populations than in cognatic populations, while no difference was found for mtDNA. Furthermore, we showed that this imbalance level correlates negatively with Y-chromosomal, mtDNA, and autosomal genetic diversity., Conclusions: This shows that patrilineality might be one of the factors explaining the male transmission of reproductive success, which, in turn, lead to a reduction of genetic diversity. Thus, notwithstanding the fact that our population genetic approach clearly shows that there is a strong male-biased transmission of reproductive success in patrilineal societies, it also highlights the fact that a social process such as cultural transmission of reproductive success could play an important role in shaping human genetic diversity, although we cannot formally exclude that this transmission has also a genetic component., (© 2015 Wiley Periodicals, Inc.)
- Published
- 2015
- Full Text
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47. Using genome-wide measures of coancestry to maintain diversity and fitness in endangered and domestic pig populations.
- Author
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Bosse M, Megens HJ, Madsen O, Crooijmans RP, Ryder OA, Austerlitz F, Groenen MA, and de Cara MA
- Subjects
- Animals, Genetics, Population, Selection, Genetic, Swine, Endangered Species, Genetic Fitness, Genetic Variation, Genome, Genomics methods, Sus scrofa genetics
- Abstract
Conservation and breeding programs aim at maintaining the most diversity, thereby avoiding deleterious effects of inbreeding while maintaining enough variation from which traits of interest can be selected. Theoretically, the most diversity is maintained using optimal contributions based on many markers to calculate coancestries, but this can decrease fitness by maintaining linked deleterious variants. The heterogeneous patterns of coancestry displayed in pigs make them an excellent model to test these predictions. We propose methods to measure coancestry and fitness from resequencing data and use them in population management. We analyzed the resequencing data of Sus cebifrons, a highly endangered porcine species from the Philippines, and genotype data from the Pietrain domestic breed. By analyzing the demographic history of Sus cebifrons, we inferred two past bottlenecks that resulted in some inbreeding load. In Pietrain, we analyzed signatures of selection possibly associated with commercial traits. We also simulated the management of each population to assess the performance of different optimal contribution methods to maintain diversity, fitness, and selection signatures. Maximum genetic diversity was maintained using marker-by-marker coancestry, and least using genealogical coancestry. Using a measure of coancestry based on shared segments of the genome achieved the best results in terms of diversity and fitness. However, this segment-based management eliminated signatures of selection. We demonstrate that maintaining both diversity and fitness depends on the genomic distribution of deleterious variants, which is shaped by demographic and selection histories. Our findings show the importance of genomic and next-generation sequencing information in the optimal design of breeding or conservation programs., (© 2015 Bosse et al.; Published by Cold Spring Harbor Laboratory Press.)
- Published
- 2015
- Full Text
- View/download PDF
48. Statistical inference on genetic data reveals the complex demographic history of human populations in central Asia.
- Author
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Palstra FP, Heyer E, and Austerlitz F
- Subjects
- Asia, Central, Bayes Theorem, Demography, Gene Flow, Genetic Loci, Genetic Markers, Haplotypes, Humans, Microsatellite Repeats, Models, Genetic, Phylogeography, Sequence Analysis, DNA, Asian People genetics, Genetic Variation, Genetics, Population
- Abstract
The demographic history of modern humans constitutes a combination of expansions, colonizations, contractions, and remigrations. The advent of large scale genetic data combined with statistically refined methods facilitates inference of this complex history. Here we study the demographic history of two genetically admixed ethnic groups in Central Asia, an area characterized by high levels of genetic diversity and a history of recurrent immigration. Using Approximate Bayesian Computation, we infer that the timing of admixture markedly differs between the two groups. Admixture in the traditionally agricultural Tajiks could be dated back to the onset of the Neolithic transition in the region, whereas admixture in Kyrgyz is more recent, and may have involved the westward movement of Turkic peoples. These results are confirmed by a coalescent method that fits an isolation-with-migration model to the genetic data, with both Central Asian groups having received gene flow from the extremities of Eurasia. Interestingly, our analyses also uncover signatures of gene flow from Eastern to Western Eurasia during Paleolithic times. In conclusion, the high genetic diversity currently observed in these two Central Asian peoples most likely reflects the effects of recurrent immigration that likely started before historical times. Conversely, conquests during historical times may have had a relatively limited genetic impact. These results emphasize the need for a better understanding of the genetic consequences of transmission of culture and technological innovations, as well as those of invasions and conquests., (© The Author 2015. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)
- Published
- 2015
- Full Text
- View/download PDF
49. Inference of sex-specific expansion patterns in human populations from Y-chromosome polymorphism.
- Author
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Aimé C, Heyer E, and Austerlitz F
- Subjects
- Africa, Algorithms, Anthropology, Physical, China, Demography methods, Europe, Female, Genetic Variation, Genetics, Population, History, Ancient, Humans, Male, Microsatellite Repeats genetics, Polymorphism, Single Nucleotide genetics, Chromosomes, Human, Y genetics, Human Migration history, Racial Groups genetics, Racial Groups statistics & numerical data
- Abstract
Studying the current distribution of genetic diversity in humans has important implications for our understanding of the history of our species. We analyzed a set of linked STR and SNP loci from the paternally inherited Y chromosome to infer the past demography of 55 African and Eurasian populations, using both the parametric and nonparametric coalescent-based methods implemented in the BEAST application. We inferred expansion events in most sedentary farmer populations, while we found constant effective population sizes for both nomadic hunter-gatherers and seminomadic herders. Our results differed, on several aspects, from previous results on mtDNA and autosomal markers. First, we found more recent expansion patterns in Eurasia than in Africa. This discrepancy, substantially stronger than the ones found with the other kind of markers, may result from a lower effective population size for men, which might have made male-transmitted markers more sensitive to the out-of-Africa bottleneck. Second, we found expansion signals only for sedentary farmers but not for nomadic herders in Central Asia, while these signals were found for both kind of populations in this area when using mtDNA or autosomal markers. Expansion signals in this area may result from spatial expansion processes and may have been erased for the Y chromosome among the herders because of restricted male gene flow., (© 2014 Wiley Periodicals, Inc.)
- Published
- 2015
- Full Text
- View/download PDF
50. Microsatellite data show recent demographic expansions in sedentary but not in nomadic human populations in Africa and Eurasia.
- Author
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Aimé C, Verdu P, Ségurel L, Martinez-Cruz B, Hegay T, Heyer E, and Austerlitz F
- Subjects
- Africa, Asia, Europe, Genetic Markers, Genome, Human, Genotyping Techniques, Humans, Life Style, Phylogeography, Polymorphism, Genetic, Genetics, Population, Microsatellite Repeats genetics, Population Density, Transients and Migrants
- Abstract
The transition from hunting and gathering to plant and animal domestication was one of the most important cultural and technological revolutions in human history. According to archeologists and paleoanthropologists, this transition triggered major demographic expansions. However, few genetic studies have found traces of Neolithic expansions in the current repartition of genetic polymorphism, pointing rather toward Paleolithic expansions. Here, we used microsatellite autosomal data to investigate the past demographic history of 87 African and Eurasian human populations with contrasted lifestyles (nomadic hunter-gatherers, semi-nomadic herders and sedentary farmers). Likely due to the combination of a higher mutation rate and the possibility to analyze several loci as independent replicates of the coalescent process, the analysis of microsatellite data allowed us to infer more recent expansions than previous genetic studies, potentially resulting from the Neolithic transition. Despite the variability in their location and environment, we found consistent expansions for all sedentary farmers, while we inferred constant population sizes for all hunter-gatherers and most herders that could result from constraints linked to a nomadic or semi-nomadic lifestyle and/or competition for land between herders and farmers. As an exception, we inferred expansions for Central Asian herders. This might be linked with the arid environment of this area that may have been more favorable to nomadic herders than to sedentary farmers. Alternatively, current Central Asian herders may descent from populations who have first experienced a transition from hunter-gathering to sedentary agropastoralism, and then a second transition to nomadic herding.
- Published
- 2014
- Full Text
- View/download PDF
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