Frédéric Austerlitz's research while affiliated with French National Centre for Scientific Research and other places

Publications (149)

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Cultural Transmission of Reproductive Success (CTRS) has been observed in many human populations as well as other animals. It consists in a positive correlation of non-genetic 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 incr...
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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 co...
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Effective population size (N e ) is a key parameter in evolutionary and conservation studies. It characterises the number of unique or distinct individuals in a population, and can be used to establish management programmes. Several methods have been developed to estimate this parameter. Currently, for studies with one sample in time, the simplest...
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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...
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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 liv...
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Xeroderma pigmentosum (XP) is a rare, autosomal, recessive disease caused by defective repair of UV‐induced DNA lesions due to various genetic defects affecting genes involved in the nucleotide excision repair (NER) pathway. Seven complementation groups have been described and named XP‐A to XP‐G, (OMIM 278700, 610651, 278720, 278730, 278740, 278760...
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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 datasets. Here we design an approach for i...
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In 1971, John Sved derived an approximate relationship between linkage disequilibrium and effective population size for an ideal finite population. This seminal work was extended by Sved and Feldman (1973) and Weir and Hill (1980) who derived additional equations with the same purpose. These equations yield useful estimates of effective population...
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Historical linguistics highly benefited from recent methodological advances inspired by phylogenetics. Nevertheless, no currently available method uses contemporaneous within-population linguistic diversity to reconstruct the history of human populations. Here, we develop an approach inspired from population genetics to perform historical linguisti...
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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 datasets. Here we designed an approach fo...
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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 for complex polygenic traits, and i...
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Several classes of methods have been proposed for inferring the history of populations from genetic polymorphism data. As connectivity is a key factor to explain the structure of populations, several graph-based methods have been developed to this aim, using population genetics data. Here we propose an original method based on graphical models that...
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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. Thi...
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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 o...
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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, m...
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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, t...
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Reconstructing Past History from Whole-Genomes: An ABC Approach Handling Recombining Data
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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 decre...
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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...
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The evolution of the sociocultural behaviours determining lineage transmission and post marital residence rules in human societies has been the subject of intense debates in cultural anthropology and ethnology. Population genetics paradigms and methods can provide new insights into the past mobility behaviour of spouse and their influence on the ge...
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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. We performed a study on the mitochondrial DNA (mtDNA) and Y chromosome pol...
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The demographic history of modern humans constitutes a combination of expansions, colonisations, 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 As...
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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 coal...
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Most animal-pollinated plants produce nectar as a pollinator reward. Despite the main role that nectar plays in plant-pollinator interactions, the impact of natural variation in nectar traits on realized male fitness is poorly known. Here, we assessed this relation for a wild Petunia axillaris population using paternity-based direct selection gradi...
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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 harbor porpoise over the entire species distribution range in western Palearctic waters. Combined analyses of ten micr...
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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...
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Demographic changes are known to leave footprints on genetic polymorphism. Together with the increased availability of large polymorphism datasets, coalescent-based methods allow inferring the past demography of populations from their present-day patterns of genetic diversity. Here, we analyzed both nuclear (20 non-coding regions) and mitochondrial...
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Unlabelled: • Premise of the study: Genetic variability in monoecious woody plant populations results from the assemblage of individuals issued from asymmetrical male and female reproductive functions, produced during spatially and temporarily heterogeneous reproductive and dispersal events. Here we investigated the dispersal patterns and levels...
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Biologic invasions can have important ecological, economic and social consequences, particularly when they involve the introduction and spread of plant invasive pathogens, as they can threaten natural ecosystems and jeopardize the production of human food. Examples include the grapevine downy mildew, caused by the oomycete Plasmopara viticola, an i...
Data
Supplementary resources of Fontaine et al. 2013 "Genetic signature of a range expansion and leap-frog event after recent invasion of Europe by the grapevine downy mildew pathogen Plasmopara viticola".
Data
Dataset of Fontaine et al. 2013 "Genetic signature of a range expansion and leap-frog event after recent invasion of Europe by the grapevine downy mildew pathogen Plasmopara viticola" Microsatellite dataset (n=938) follows the SPAGEDI input file format. It contains codes for localities, latitude-longitude coordinates as well as projected coordinate...
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The high prevalence of type 2 diabetes and its uneven distribution among human populations is both a major public health concern and a puzzle in evolutionary biology. Why is this deleterious disease so common, while the associated genetic variants should be removed by natural selection? The 'thrifty genotype' hypothesis proposed that the causal gen...
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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 p...
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Two major ecological transitions marked the history of the Black Sea after the last Ice Age. The first was the postglacial transition from a brackish-water to a marine ecosystem dominated by porpoises and dolphins once this basin was reconnected back to the Mediterranean Sea (ca. 8,000 y B.P.). The second occurred during the past decades, when over...
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Summary Fertility transmission (FT) is a phenomenon with a cultural and/or genetic basis, whereby a positive correlation exists between the number of offspring of an individual and that of his/her parents. Theoretical studies using a haploid individual-based model have shown that FT increases the variance and intergenerational correlation in reprod...
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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 comparis...
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Complex phenotypes are often controlled by many interacting genes. One question emerging from such organization is how selection, acting at the phenotypic level, shapes the evolution of genes involved in regulatory networks controlling the phenotypes. We studied this issue through a matrix model of such networks. In a population submitted to select...
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Xeroderma pigmentosum (XP) is a rare, recessive disease characterized by sunlight hypersensitivity and early appearance of cutaneous and ocular malignancies. We report the first description of a very high incidence (around 1/5000) of black XP patients in the Mayotte population in the Indian Ocean. Among a cohort of 32 XP, we describe the clinical a...
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The aim of the present study is to document the evolution of the lactase persistence trait in Central Asia, a geographical area that is thought to have been a region of long-term pastoralism. Several ethnic groups co-exist in this area: Indo-Iranian speakers who are traditionally agriculturist (Tajik) and Turkic speakers who used to be nomadic herd...
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Pollen fate can strongly affect the genetic structure of populations with restricted gene flow and significant inbreeding risk. We established an experimental population of inbred and outbred Silene latifolia plants to evaluate the effects of (i) inbreeding depression, (ii) phenotypic variation and (iii) relatedness between mates on male fitness un...
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The c.1544+1G>A substitution at the 5' splice donor site of intron 15 of the ITGA2B gene, called the French Gypsy mutation, causes Glanzmann thrombasthenia, an inherited hemorrhagic disorder transmitted as an autosomal recessive trait and characterized by an altered synthesis of the platelet αIIbβ3 integrin. So far, this mutation has only been foun...
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Located in the Eurasian heartland, Central Asia has played a major role in both the early spread of modern humans out of Africa and the more recent settlements of differentiated populations across Eurasia. A detailed knowledge of the peopling in this vast region would therefore greatly improve our understanding of range expansions, colonizations an...