Research Topics
Genomes and Genes | Lluis Quintana-MurciSummaryAffiliation: Institut Pasteur Country: France Publications
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Publications
Population genetic tools for dissecting innate immunity in humansLluis Quintana-Murci
Institut Pasteur, Unit of Human Evolutionary Genetics, Paris, France
Nat Rev Immunol 13:280-93. 2013..This Review discusses these findings and highlights how they help to delineate the relative functional importance of innate immune pathways, which can range from being essential to being redundant...
Genetic diversity and the emergence of ethnic groups in Central AsiaEvelyne Heyer
Eco anthropologie et Ethnobiologie, UMR7206 Département Hommes Natures Sociétés, Musée de l Homme 17, Place du Trocadéro 75116 Paris, France
BMC Genet 10:49. 2009....
Y-chromosome lineages trace diffusion of people and languages in southwestern AsiaL Quintana-Murci
Unité d Immunogénétique Humaine, INSERM E0021, Institut Pasteur, 75724 Paris Cedex 15, France
Am J Hum Genet 68:537-42. 2001....
Strong maternal Khoisan contribution to the South African coloured population: a case of gender-biased admixtureLluis Quintana-Murci
Institut Pasteur, Human Evolutionary Genetics, Department of Genomes and Genetics, F 75015 Paris, France
Am J Hum Genet 86:611-20. 2010....
The role played by natural selection on Mendelian traits in humansLluis Quintana-Murci
Institut Pasteur, Human Evolutionary Genetics, Department of Genomes and Genetics, Paris, France
Ann N Y Acad Sci 1214:1-17. 2010....
[Natural selection of DC-SIGN and its homologues L-SIGN and mSIGNR1 in pathogen recognition and innate immunity]Lluis Quintana-Murci
CNRS FRE2849, , Institut Pasteur, Paris, France
Med Sci (Paris) 22:29-32. 2006
Where west meets east: the complex mtDNA landscape of the southwest and Central Asian corridorLluis Quintana-Murci
Centre National de la Recherche Scientifique CNRS URA 1961, Institut Pasteur, 75724 Paris Cedex 15, France
Am J Hum Genet 74:827-45. 2004....
Y-chromosomal STR haplotypes in Berber and Arabic-speaking populations from MoroccoLluis Quintana-Murci
CNRS URA1961, Institut Pasteur, Paris, France
Forensic Sci Int 140:113-5. 2004..Twelve Y-chromosomal short tandem repeats (STRs), DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS388, DYS426 and DYS439 were typed in Berber-speaking (n=49) and Arabic-speaking (n=60) population samples from Morocco...
[Origin and evolution of mammalian sex chromosomes]L Quintana-Murci
Unité d Immunogénétique Humaine, Inserm E21, Institut Pasteur, 25, rue du Dr Roux, 75724 Paris, France
C R Acad Sci III 324:1-11. 2001..Recent results indicate that the event marking the beginning of the differentiation between the extant X and Y chromosomes occurred about 300 million years ago...
The human Y chromosome: function, evolution and diseaseL Quintana-Murci
Unité d Immunogénétique Humaine, Institut Nationale de la Santé et de la Recherche Médicale INSERM E0021, Institut Pasteur, 25 28 Rue du Dr Roux, 75724 Cedex 15, Paris, France
Forensic Sci Int 118:169-81. 2001..An overview of the role of selection acting on the Y chromosome from the perspective of human population histories and disease is given...
Genetic structure of Mediterranean populations revealed by Y-chromosome haplotype analysisLluis Quintana-Murci
CNRS URA 1961, Institut Pasteur, Paris 75015, France
Am J Phys Anthropol 121:157-71. 2003..The estimations, based on two different data sets, turn out to be quite recent (7,000-11,000 YBP), suggesting that this lineage may have been first introduced into Southern Europe through Neolithic migrations from the Middle East...
Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genesEtienne Patin
Centre National de la Recherche Scientifique, CNRS, FRE 2849, Unit of Molecular Prevention and Therapy of Human Diseases, Paris, France
Am J Hum Genet 78:423-36. 2006..On the whole, the patterns observed for NAT2 well illustrate how geographically and temporally fluctuating xenobiotic environments may have influenced not only our genome variability but also our present-day susceptibility to disease...
DC-SIGN interacts with Mycobacterium leprae but sequence variation in this lectin is not associated with leprosy in the Pakistani populationLuis B Barreiro
CNRS FRE2849, Institut Pasteur, 25 28 rue Dr Roux, Paris 75015, France
Hum Immunol 67:102-7. 2006..Altogether, our results provide further elucidation of M. leprae interactions with the host innate immune cells and emphasize the importance of DC-SIGN in the early interactions between the human host and the infectious agents...
Promoter variation in the DC-SIGN-encoding gene CD209 is associated with tuberculosisLuis B Barreiro
CNRS FRE2849, Unit of Molecular Prevention and Therapy of Human Diseases, Institut Pasteur, Paris, France
PLoS Med 3:e20. 2006..We reasoned that if DC-SIGN interacts with M. tuberculosis, as well as with other pathogens, variation in this gene might have a broad range of influence in the pathogenesis of a number of infectious diseases, including tuberculosis...
The heritage of pathogen pressures and ancient demography in the human innate-immunity CD209/CD209L regionLuis B Barreiro
Centre National de la Recherche Scientifique FRE 2849, Unit of Molecular Prevention and Therapy of Human Diseases, Institut Pasteur, 25, 75724 Paris Cedex 15, France
Am J Hum Genet 77:869-86. 2005....
In the heartland of Eurasia: the multilocus genetic landscape of Central Asian populationsBegoña Martínez-Cruz
Muséum National d Histoire Naturelle Centre National de la Recherche Scientifique Université Paris 7, UMR 7206, Eco anthropologie et Ethnobiologie, Paris, France
Eur J Hum Genet 19:216-23. 2011..Contrary to what is generally thought, our results suggest that the recurrent expansions of eastern nomadic groups did not result in the complete replacement of local populations, but rather into partial admixture...
The genetic or mythical ancestry of descent groups: lessons from the Y chromosomeRaphaelle Chaix
Unité d Eco Anthropologie, Centre National de la Recherche Scientifique UMR 5145 Université Paris 7, Musée de l Homme, Paris, France
Am J Hum Genet 75:1113-6. 2004..Thus, a tribe might be a conglomerate of clans who subsequently invented a mythical ancestor to strengthen group unity...
Evolutionary genetics evidence of an essential, nonredundant role of the IFN-γ pathway in protective immunityJeremy Manry
Institut Pasteur, Human Evolutionary Genetics, Department of Genomes and Genetics, Paris, France
Hum Mutat 32:633-42. 2011..The integration of our population genetic data into a clinical framework demonstrates that the IFN-γ pathway is essential and nonredundant in host defense, probably because of its role in protective immunity against mycobacteria...
Population genetic diversity of the NAT2 gene supports a role of acetylation in human adaptation to farming in Central AsiaHélène Magalon
Unité d Eco Anthropologie et Ethnobiologie, CNRS UMR 5145, Musée de l Homme, Paris, France
Eur J Hum Genet 16:243-51. 2008..These results further support the hypothesis that a major transition in human lifestyle, such as the emergence of farming has dramatically changed human chemical environments and the selective pressures they imposed...
Male reproductive function and the human Y chromosome: is selection acting on the Y?Ken McElreavey
Reproduction, Fertility and Populations, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France
Reprod Biomed Online 7:17-23. 2003..By these approaches novel associations between Y-chromosome haplotypes and disease may be revealed and the degree to which selection is acting on the human Y chromosome may be determined...
Towards a crucial role for DC-SIGN in tuberculosis and beyondOlivier Neyrolles
Unit of Mycobacterial Genetics, Institut Pasteur, 25 rue du Dr Roux, 75015 Paris, France
Trends Microbiol 14:383-7. 2006..Altogether, these findings suggest that DC-SIGN might play a crucial part in host immunity to pathogens and possibly beyond, at an early stage of human development...
The Basque paradigm: genetic evidence of a maternal continuity in the Franco-Cantabrian region since pre-Neolithic timesDoron M Behar
Institut Pasteur, Unit of Human Evolutionary Genetics, Department of Genomes and Genetics, Paris, France
Am J Hum Genet 90:486-93. 2012..Our results clearly support the hypothesis of a partial genetic continuity of contemporary Basques with the preceding Paleolithic/Mesolithic settlers of their homeland...
Evolution of the TIR domain-containing adaptors in humans: swinging between constraint and adaptationSimona Fornarino
Human Evolutionary Genetics, Department of Genomes and Genetics, Institut Pasteur, Paris, France
Mol Biol Evol 28:3087-97. 2011..Our study provides evidence that the contemporary diversity of the five TIR-containing adaptors results from the intermingling of different selective events, swinging between constraint and adaptation...
Signatures of purifying and local positive selection in human miRNAsHélène Quach
Institut Pasteur, Human Evolutionary Genetics, Centre National pour la Recherche Scientifique, URA3012, Paris, France
Am J Hum Genet 84:316-27. 2009....
Genetic traces of east-to-west human expansion waves in EurasiaRaphaelle Chaix
Unité d Eco Anthropologie, CNRS UMR 5145, Musée de l Homme, Paris, France
Am J Phys Anthropol 136:309-17. 2008..e., through migrations of individuals (and not just through diffusion of new technologies), highlighting the prominent role of eastern regions within Eurasia during Palaeolithic times...
Natural selection has driven population differentiation in modern humansLuis B Barreiro
Human Evolutionary Genetics Unit, Centre National de la Recherche Scientifique Unité de Recherche Associée CNRS URA3012, Institut Pasteur, 25 rue Dr Roux, Paris 75015, France
Nat Genet 40:340-5. 2008..Our analyses identify a fraction of loci that have contributed, and probably still contribute, to the morphological and disease-related phenotypic diversity of current human populations...
Maternal traces of deep common ancestry and asymmetric gene flow between Pygmy hunter-gatherers and Bantu-speaking farmersLluis Quintana-Murci
Human Evolutionary Genetics Unit, Centre National de la Recherche Scientifique URA3012, Institut Pasteur, 75015 Paris, France
Proc Natl Acad Sci U S A 105:1596-601. 2008....
The evolutionary landscape of cytosolic microbial sensors in humansEstelle Vasseur
Institut Pasteur, Unit of Human Evolutionary Genetics, Paris, France
Am J Hum Genet 91:27-37. 2012..This study provides novel perspectives and experimentally testable hypotheses concerning the relative biological relevance of the various families of microbial sensors in humans...
Sex-specific genetic structure and social organization in Central Asia: insights from a multi-locus studyLaure Segurel
Museum national d histoire naturelle, Centre National de la Recherche Scientifique UMR 5145, Universite Paris 7, Eco anthropologie et Ethnobiologie, Musée de l Homme, Paris, France
PLoS Genet 4:e1000200. 2008..This study suggests that differences in sex-specific migration rates may not be the only cause of contrasting male and female differentiation in humans, and that differences in effective numbers do matter...
Inferring the demographic history of African farmers and pygmy hunter-gatherers using a multilocus resequencing data setEtienne Patin
Institut Pasteur, Human Evolutionary Genetics, CNRS, URA3012, Paris, France
PLoS Genet 5:e1000448. 2009..An appreciation of the demographic and adaptive history of African populations with different modes of subsistence should improve our understanding of the influence of human lifestyles on genome diversity...
Formulating a historical and demographic model of recent human evolution based on resequencing data from noncoding regionsGuillaume Laval
Human Evolutionary Genetics, Institut Pasteur, Paris, France
PLoS ONE 5:e10284. 2010..In addition, the development of a model of human evolution that can best explain neutral genetic diversity is required to identify confidently regions of the human genome that have been targeted by natural selection...
Evolutionary genetic dissection of human interferonsJeremy Manry
Unit of Human Evolutionary Genetics, Department of Genomes and Genetics, Institut Pasteur, F 75015 Paris, France
J Exp Med 208:2747-59. 2011..Our population genetic analyses show that IFNs differ widely in their biological relevance, and highlight evolutionarily important determinants of host immune responsiveness...
From evolutionary genetics to human immunology: how selection shapes host defence genesLuis B Barreiro
Human Evolutionary Genetics, Institut Pasteur, Centre National de la Recherche Scientifique URA3012, Paris 75015, France
Nat Rev Genet 11:17-30. 2010..A tighter integration between population genetic studies and immunological phenotype studies is now necessary to reveal the mechanisms that have been crucial for our past and present survival against infection...
Functional characterization of naturally occurring genetic variants in the human TLR1-2-6 gene familyMeriem Ben-Ali
Institut Pasteur, Human Evolutionary Genetics, Department of Genomes and Genetics, Paris, France
Hum Mutat 32:643-52. 2011..These observations suggest that rare, nonsynonymous TLR mutations are likely to have deleterious effects on immune responses and may therefore contribute to complex susceptibility to infection at the population level...
Study of human RIG-I polymorphisms identifies two variants with an opposite impact on the antiviral immune responseJulien Pothlichet
Institut Pasteur, Unité de Défense Innée et Inflammation, Paris, France
PLoS ONE 4:e7582. 2009..Thus, its defectiveness may strongly impair the host antiviral immunity. Remarkably, very little information is available on RIG-I single-nucleotide polymorphisms (SNPs) presenting a functional impact on the host response...
[Population genetics and human immunity: the interferon paradigm]Jeremy Manry
Institut Pasteur, Département Génomes et Génétique, unité génétique évolutive humaine, 25, rue du Docteur Roux, 75015 Paris, France CNRS URA3012, 75015 Paris, France
Med Sci (Paris) 28:1095-101. 2012..This review uses the IFN paradigm to illustrate the value of the evolutionary approach in highlighting important determinants of host immune responsiveness in the natural setting...
Population variation in NAIP functional copy number confers increased cell death upon Legionella pneumophila infectionMichele Boniotto
Unit of Human Evolutionary Genetics, Institut Pasteur, F 75015 Paris, France
Hum Immunol 73:196-200. 2012..We postulate that the NAIPFull gene duplication might have been evolutionary maintained, or even selected for, because it may confer an advantage to the host against flagellated bacteria...
Demeter's legacy: rapid changes to our genome imposed by dietEtienne Patin
Human Evolutionary Genetics, Centre National de la Recherche Scientifique CNRS URA3012, Institut Pasteur, 25 rue Docteur Roux, 75724 Paris Cedex 15, France
Trends Ecol Evol 23:56-9. 2008..This study illustrates that genetic adaptation to new diets has occurred in humans since the agricultural revolution...
Evolutionary dynamics of human Toll-like receptors and their different contributions to host defenseLuis B Barreiro
Institut Pasteur, Human Evolutionary Genetics, CNRS, URA3012, Paris, France
PLoS Genet 5:e1000562. 2009..The insights gained in this study foster new hypotheses to be tested in clinical and epidemiological genetics of infectious disease...
The Tyr978X BRCA1 mutation: occurrence in non-Jewish Iranians and haplotype in French-Canadian and non-Ashkenazi JewsLluis Quintana-Murci
Laboratoire de Reproduction, Fertilite et Populations, Institut Pasteur, Paris, France
Fam Cancer 4:85-8. 2005..The same mutation was also reported in non-Jewish high-risk women from Canada. Its occurrence in non-Jewish individuals from Iran has never been tested...
Positively selected G6PD-Mahidol mutation reduces Plasmodium vivax density in Southeast AsiansChalisa Louicharoen
Institut Pasteur, Laboratoire de la Génétique de la réponse aux infections chez l homme, 75724 Paris, France
Science 326:1546-9. 2009..We found that the G6PD-Mahidol(487A) variant reduces vivax, but not falciparum, parasite density in humans, which indicates that Plasmodium vivax has been a driving force behind the strong selective advantage conferred by this mutation...
The selective footprints of viral pressures at the human RIG-I-like receptor familyEstelle Vasseur
Unit of Human Evolutionary Genetics, URA3012, Institut Pasteur, 25 28 Rue du Dr Roux, F 75015 Paris, France
Hum Mol Genet 20:4462-74. 2011..In light of the fact that some of these mutations have been associated with altered risks of developing autoimmune disorders, our study provides an additional example of the evolutionary conflict between infection and autoimmunity...
Y chromosome haplogroups: a correlation with testicular dysgenesis syndrome?Ken McElreavey
Reproduction, Fertility and Populations, Institut Pasteur, Paris, France
APMIS 111:106-13; discussion 114. 2003..Our current data highlight the need for further analyses of clinically well-defined patient groups from a wide range of ethnic and geographic origins...
Horizontal transfer of a virulence operon to the ancestor of Mycobacterium tuberculosisVania Rosas-Magallanes
Unit of Mycobacterial Genetics, Institut Pasteur, Paris, France
Mol Biol Evol 23:1129-35. 2006..In addition, our data underline the importance of deciphering gene transfer networks in M. tuberculosis in order to better understand the evolutionary mechanisms involved in mycobacterial virulence...
Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humansSuzanne Lesage
INSERM, UMR_S975 Formerly UMR_S679, Paris, France
Hum Mol Genet 19:1998-2004. 2010....
HTLV-2B strains, similar to those found in several Amerindian tribes, are endemic in central African Bakola PygmiesPhilippe Mauclere
Unité d Epidémiologie et Physiopathologie des Virus Oncogènes, Institut National de la Santéet de la Recherche Médicale, Paris, France
J Infect Dis 203:1316-23. 2011..The presence and origin of endemic foci of human T-lymphotropic virus type 2 (HTLV2) infection in Africa remain a matter of debate...
Life-threatening infectious diseases of childhood: single-gene inborn errors of immunity?Alexandre Alcais
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Sante et de la Recherche Medicale, University Paris Descartes, Paris, France
Ann N Y Acad Sci 1214:18-33. 2010..With the recent advent of new-generation deep resequencing, this model of single-gene variations underlying severe pediatric infectious diseases is experimentally testable...
Length variation of DC-SIGN and L-SIGN neck-region has no impact on tuberculosis susceptibilityLuis B Barreiro
CNRS FRE2849, Unit of Human Evolutionary Genetics, Institut Pasteur, Paris, France
Hum Immunol 68:106-12. 2007....
The genetics of innate immunity sensors and human diseaseJulien Pothlichet
Institut Pasteur, Unit of Human Evolutionary Genetics, Paris, France
Int Rev Immunol 32:157-208. 2013....
A genome-wide perspective of human diversity and its implications in infectious diseaseJeremy Manry
Institut Pasteur, Unit of Human Evolutionary Genetics, Department of Genomes and Genetics, F 75015 Paris, France
Cold Spring Harb Perspect Med 3:a012450. 2013....
TLR3 deficiency in patients with herpes simplex encephalitisShen Ying Zhang
Human Genetics of Infectious Diseases, Institut National de la Sante et de la Recherche Medicale INSERM, U550, Faculty Necker, Paris 75015, France
Science 317:1522-7. 2007..Human TLR3 appears to be redundant in host defense to most microbes but is vital for natural immunity to HSV-1 in the CNS, which suggests that neurotropic viruses have contributed to the evolutionary maintenance of TLR3...
