Human Evolutionary Genetics (HEG)

Publications


2012
Rębała K, Martínez-Cruz B, Tönjes A, Kovacs P, Stumvoll M, Lindner I, Büttner A, Wichmann HE, Siváková D, Soták M, Quintana-Murci L, Szczerkowska Z, Comas D; the Genographic Consortium. (2012) Contemporary paternal genetic landscape of Polish and German populations: from early medieval Slavic expansion to post-World War II resettlements. Eur J Hum Genet. Sep 12. [Epub ahead of print]

Vasseur E, Boniotto M, Patin E, Laval G, Quach H, Manry J, Crouau-Roy B, Quintana-Murci L. (2012)The Evolutionary Landscape of Cytosolic Microbial Sensors in Humans. Am J Hum Genet. 2012 Jun 26. [Epub ahead of print]

Boniotto M, Tailleux L, Lomma M, Gicquel B, Buchrieser C, Garcia S, Quintana-Murci L (2012) Population variation in NAIP functional copy number confers increased cell death upon Legionella pneumophila infection. Hum Immunol. 73(2):196-200.

Quintana-Murci L (2012) Genetics. Gene losses in the human genome. Science. 335(6070):806-7.

Fornarino S, Laval G, Barreiro LB, Manry J, Vasseur E, Quintana-Murci L  (2011). Evolution of the TIR Domain-Containing Adaptors in Humans: Swinging between Constraint and Adaptation. Mol Biol Evol. 28(11):3087-97.

Ben-Ali M, Corre B, Manry J, Barreiro LB, Quach H, Boniotto M, Pellegrini S, Quintana-Murci L (2011) Functional characterisation of naturally occurring genetic variants in the human TLR1-2-6 gene family. Hum Mut. 32(6):643-52.

Yan S, Wang CC, Li H, Li SL, Jin L; The Genographic Consortium, Schurr TG, Santos FR, Quintana-Murci L, Bertranpetit J, Comas D, Tyler-Smith C, Zalloua PA, Balanovska E, Balanovsky O, John Mitchell R, Jin L, Soodyall H, Pitchappan R, Cooper A, Matisoo-Smith L, Royyuru AK, Platt DE, Parida L, Blue-Smith J, Soria Hernanz DF, Spencer Wells R. (2011) An updated tree of Y-chromosome Haplogroup O and revised phylogenetic positions of mutations P164 and PK4. Eur J Hum Genet. 19(9):1013-5.

Mauclère P, Afonso PV, Meertens L, Plancoulaine S, Calattini S, Froment A, Van Beveren M, de Thé G, Quintana-Murci L, Mahieux R, Gessain A (2011) HTLV-2B Strains, Similar to Those Found in Several Amerindian Tribes, Are Endemic in Central African Bakola Pygmies. J Infect Dis. 203(9):1316-23.

Manry J, Laval G, Patin E, Fornarino S, Tichit M, Bouchier C, Barreiro LB, Quintana-Murci L (2011). Evolutionary genetics evidence of an essential, non-redundant role of the IFN-g pathway in protective immunity. Hum Mut. 32(6):633-42.

Casanova JL, Abel L, Quintana-Murci L (2011) Human TLRs and IL-1Rs in Host Defense: Natural Insights from Evolutionary, Epidemiological, and Clinical Genetics. Annu Rev Immunol. 23(29):447-91.

Haber M, Platt DE, Badro DA, Xue Y, El-Sibai M, Bonab MA, Youhanna SC, Saade S, Soria-Hernanz DF, Royyuru A, Wells RS, Tyler-Smith C, Zalloua PA; Genographic Consortium. (2011). Influences of history, geography, and religion on genetic structure: the Maronites in Lebanon. Eur J Hum Genet. 19(3):334-40.

Yang K, Zheng H, Qin Z, Lu Y, Farina SE, Li S, Jin L, Li D, Li H; Genographic Consortium. (2011). Positive selection on mitochondrial M7 lineages among the Gelong people in Hainan. J Hum Genet. 56(3):253-6.

Batini C, Lopes J, Behar DM, Calafell F, Jorde LB, van der Veen L, Quintana-Murci L, Spedini G, Destro-Bisol G, Comas D (2011) Insights into the demographic history of African Pygmies from complete mitochondrial genomes. Mol Biol Evol. 28(2):1099-110.

Heyer E, Brazier L, Ségurel L, Hegay T, Austerlitz F, Quintana-Murci L, Georges M, Pasquet P, Veuille M. (2011) Lactase persistence in central Asia: phenotype, genotype, and evolution. Hum Biol. 83(3):379-92.

Martinez-Cruz B, Vitalis R, Segurel L, Austerlitz F, Georges M, Thery S, Quintana-Murci L, Hegay T, Aldashev A, Nasyrova F, Heyer E (2011) In the heartland of Eurasia: the multilocus genetic landscape of Central Asian populations. Eur J Hum Genet. 19(2):216-23.

Gaieski JB, Owings AC, Vilar MG, Dulik MC, Gaieski DF, Gittelman RM, Lindo J, Gau L, Schurr TG; Genographic Consortium. (2011). Genetic ancestry and indigenous heritage in a Native American descendant community in Bermuda. Am J Phys Anthropol. 146(3):392-405.

Cai X, Qin Z, Wen B, Xu S, Wang Y, Lu Y, Wei L, Wang C, Li S, Huang X, Jin L, Li H; Genographic Consortium. (2011). Human migration through bottlenecks from Southeast Asia into East Asia during Last Glacial Maximum revealed by Y chromosomes. PLoS One. 6(8):e24282.

Balanovsky O, Dibirova K, Dybo A, Mudrak O, Frolova S, Pocheshkhova E, Haber M, Platt D, Schurr T, Haak W, Kuznetsova M, Radzhabov M, Balaganskaya O, Romanov A, Zakharova T, Soria Hernanz DF, Zalloua P, Koshel S, Ruhlen M, Renfrew C, Wells RS, Tyler-Smith C, Balanovska E; Genographic Consortium. (2011). Parallel evolution of genes and languages in the Caucasus region. Mol Biol Evol. 28(10):2905-20.

Yan S, Wang CC, Li H, Li SL, Jin L; Genographic Consortium. (2011). An updated tree of Y-chromosome Haplogroup O and revised phylogenetic positions of mutations P164 and PK4. Eur J Hum Genet. 19(9):1013-5.

2010

Quintana-Murci L, Barreiro LB (2010). The role played by natural selection on Mendelian traits in humans. Ann N Y Acad Sci. 1214:1-17.

Alcais A, Quintana-Murci L, Thaler DS, Schurr E, Abel L, Casanova JL (2010) Life-threatening infectious diseases of childhood: single-gene inborn errors of immunity? Ann N Y Acad Sci. 1214:18-33.

Laval G, Patin E, Barreiro LB, Quintana-Murci L (2010) Formulating a historical and demographic model of recent human evolution based on resequencing data from noncoding regions. PLoS One. 5(4):e10284.

Quintana-Murci L, Harmant C, Quach H, Balanovsky O, Zaporozhchenko V, Bormans C, van Helden PD, Hoal EG, Behar DM (2010) Strong maternal Khoisan contribution to the South African coloured population: a case of gender-biased admixture. Am J Hum Genet. 86(4):611-20.

Melé M, Javed A, Pybus M, Calafell F, Parida L, Bertranpetit J; Genographic Consortium Members (2010) A new method to reconstruct recombination events at a genomic scale. PLoS Comput Biol. 6(11):e1001010.

Haak W, Balanovsky O, Sanchez JJ, Koshel S, Zaporozhchenko V, Adler CJ, Der Sarkissian CS, Brandt G, Schwarz C, Nicklisch N, Dresely V, Fritsch B, Balanovska E, Villems R, Meller H, Alt KW, Cooper A; Members of the Genographic Consortium (2010) Ancient DNA from European early neolithic farmers reveals their near eastern affinities. PLoS Biol. 8(11):e1000536.

Qin Z, Yang Y, Kang L, Yan S, Cho K, Cai X, Lu Y, Zheng H, Zhu D, Fei D, Li S, Jin L, Li H; Genographic Consortium (2010) A mitochondrial revelation of early human migrations to the Tibetan Plateau before and after the last glacial maximum. Am J Phys Anthropol. 143(4):555-69

Zhadanov SI, Dulik MC, Markley M, Jennings GW, Gaieski JB, Elias G, Schurr TG; Genographic Project Consortium (2010) Genetic heritage and native identity of the Seaconke Wampanoag tribe of Massachusetts. Am J Phys Anthropol. 142(4):579-89.

Lesage S, Patin E, Condroyer C, Leutenegger AL, Lohmann E, Giladi N, Bar-Shira A, Belarbi S, Hecham N, Pollak P, Ouvrard-Hernandez AM, Bardien S, Carr J, Benhassine T, Tomiyama H, Pirkevi C, Hamadouche T, Cazeneuve C, Basak AN, Hattori N, Dürr A, Tazir M, Orr-Urtreger A, Quintana-Murci L, Brice A; French Parkinson's Disease Genetics Study Group (2010) Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans. Hum Mol Genet. 19(10):1998-2004.

Cassar O, Bassot S, Plancoulaine S, Quintana-Murci L, Harmant C, Gurtsevitch V, Senyuta NB, Yakovleva LS, de The G, Gessain A (2010) Human herpesvirus 8, Southern Siberia. Emerg Infect Dis. 16(3):580-2.




2009

Neyrolles O, Quintana-Murci L (2009) Sexual inequality in tuberculosis. PLoS Med. 6(12):e1000199.

Louicharoen C, Patin E, Paul R, Nuchprayoon I, Witoonpanich B, Peerapittayamongkol C, Casademont I, Sura T, Laird NM, Singhasivanon P, Quintana-Murci L, Sakuntabhai A (2009). Positively Selected G6PD-Mahidol Mutation Reduces Plasmodium vivax Density in Southeast Asians. Science 326(5959):1546-9

Barreiro LB, Quintana-Murci L (2009) From evolutionary genetics to human immunology: how selection shapes host defence genes. Nat Rev Genet. 11(1):17-30

Barreiro, L.B., Ben-Ali, M., Quach H, Laval G, Patin E, Pickrell J, Bouchier C, Tichit M, Neyrolles O, Gicquel B, Kidd JR, Kidd KK, Alcaïs A, Ragimbeau J, Pellegrini S, Abel L, Casanova JL, Quintana-Murci L (2009). Evolutionary Dynamics of Human Toll-Like Receptors and their Different Contributions to Host Defense. PLoS Genet 5(7), e1000562.

Ortiz M, Guex N, Patin E, Martin O, Xenarios I, Ciuffi A, Quintana-Murci L, Telenti A (2009) Evolutionary trajectories of primate genes involved in HIV pathogenesis.Mol Biol Evol. 26(12):2865-75.

Quach, H., Barreiro, L. B., Laval, G., Zidane, N., Patin, E., Kidd, K. K., Kidd, J. R., Bouchier, C., Veuille, M., Antoniewski, C. and Quintana-Murci, L. (2009). Signatures of purifying and local positive selection in human miRNAs. Am J Hum Genet 84, 316-327.

Patin, E., Laval, G., Barreiro, L. B., Salas, A., Semino, O., Santachiara-Benerecetti, S., Kidd, K. K., Kidd, J. R., Van der Veen, L., Hombert, J. M., Gessain, A., Froment, A., Bahuchet, S., Heyer, E. and Quintana-Murci, L. (2009). Inferring the demographic history of african farmers and pygmy hunter-gatherers using a multilocus resequencing data set. PLoS Genet 5(4), e1000448.

Berniell-Lee G, Calafell F, Bosch E, Heyer E, Sica L, Mouguiama-Daouda P, van der Veen L, Hombert JM, Quintana-Murci L, Comas D. (2009). Genetic and demographic implications of the Bantu expansion: insights from human paternal lineages. Mol Biol Evol. 26(7), 1581-1589.

Pothlichet J, Burtey A, Kubarenko AV, Caignard G, Solhonne B, Tangy F, Ben-Ali M, Quintana-Murci L, Heinzmann A, Chiche JD, Vidalain PO, Weber AN, Chignard M, Si-Tahar M (2009) Study of human RIG-I polymorphisms identifies two variants with an opposite impact on the antiviral immune response. PLoS One;4(10):e7582

Verdu, P., Austerlitz, F., Estoup, A., Vitalis, R., Georges, M., Thery, S., Froment, A., Le Bomin, S., Gessain, A., Hombert, J. M., Van der Veen, L., Quintana-Murci, L., Bahuchet, S. and Heyer, E. (2009). Origins and genetic diversity of pygmy hunter-gatherers from Western Central Africa. Curr Biol 19, 312-318.

Heyer E, Balaresque P, Jobling MA, Quintana-Murci L, Chaix R, Segurel L, Aldashev A, Hegay T (2009) Genetic diversity and the emergence of ethnic groups in Central Asia. BMC Genet. 1;10:49

2008

Zhang, J., Zhang, X., Fu, J., Bi, Z., Arheart, K. L., Barreiro, L. B., Quintana-Murci, L., Pahwa, S. and Liu, H. (2008). Protective role of DC-SIGN (CD209) neck-region alleles with <5 repeat units in HIV-1 transmission. J Infect Dis 198, 68-71.

Segurel, L., Martinez-Cruz, B., Quintana-Murci, L., Balaresque, P., Georges, M., Hegay, T., Aldashev, A., Nasyrova, F., Jobling, M. A., Heyer, E. and Vitalis, R. (2008). Sex-specific genetic structure and social organization in Central Asia: insights from a multi-locus study. PLoS Genet 4, e1000200.

Quintana-Murci, L., Quach, H., Harmant, C., Luca, F., Massonnet, B., Patin, E., Sica, L., Mouguiama-Daouda, P., Comas, D., Tzur, S., Balanovsky, O., Kidd, K. K., Kidd, J. R., van der Veen, L., Hombert, J. M., Gessain, A., Verdu, P., Froment, A., Bahuchet, S., Heyer, E., Dausset, J., Salas, A. and Behar, D. M. (2008). Maternal traces of deep common ancestry and asymmetric gene flow between Pygmy hunter-gatherers and Bantu-speaking farmers. Proc Natl Acad Sci U S A 105, 1596-1601.

Patin, E. and Quintana-Murci, L. (2008). Demeter’s legacy: rapid changes to our genome imposed by diet. Trends Ecol Evol 23, 56-59.

Ortiz, M., Kaessmann, H., Zhang, K., Bashirova, A., Carrington, M., Quintana-Murci, L. and Telenti, A. (2008). The evolutionary history of the CD209 (DC-SIGN) family in humans and non-human primates. Genes Immun 9, 483-492.

Magalon, H., Patin, E., Austerlitz, F., Hegay, T., Aldashev, A., Quintana-Murci, L. and Heyer, E. (2008). Population genetic diversity of the NAT2 gene supports a role of acetylation in human adaptation to farming in Central Asia. Eur J Hum Genet 16, 243-251.

Luca, F., Bubba, G., Basile, M., Brdicka, R., Michalodimitrakis, E., Rickards, O., Vershubsky, G., Quintana-Murci, L., Kozlov, A. I. and Novelletto, A. (2008). Multiple advantageous amino acid variants in the NAT2 gene in human populations. PLoS ONE 3, e3136.

Chaix, R., Austerlitz, F., Hegay, T., Quintana-Murci, L. and Heyer, E. (2008). Genetic traces of east-to-west human expansion waves in Eurasia. Am J Phys Anthropol 136, 309-317.

Behar, D. M., Villems, R., Soodyall, H., Blue-Smith, J., Pereira, L., Metspalu, E., Scozzari, R., Makkan, H., Tzur, S., Comas, D., Bertranpetit, J., Quintana-Murci, L., Tyler-Smith, C., Wells, R. S. and Rosset, S. (2008). The dawn of human matrilineal diversity. Am J Hum Genet 82, 1130-1140.

Behar, D. M., Blue-Smith, J., Soria-Hernanz, D. F., Tzur, S., Hadid, Y., Bormans, C., Moen, A., Tyler-Smith, C., Quintana-Murci, L. and Wells, R. S. (2008). A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals. Hum Mutat 29, 1387-1391.

Barreiro, L. B., Laval, G., Quach, H., Patin, E. and Quintana-Murci, L. (2008). Natural selection has driven population differentiation in modern humans. Nat Genet 40, 340-345.

Balaresque, P., Bowden, G. R., Parkin, E. J., Omran, G. A., Heyer, E., Quintana-Murci, L., Roewer, L., Stoneking, M., Nasidze, I., Carvalho-Silva, D. R., Tyler-Smith, C., de Knijff, P. and Jobling, M. A. (2008). Dynamic nature of the proximal AZFc region of the human Y chromosome: multiple independent deletion and duplication events revealed by microsatellite analysis. Hum Mutat 29, 1171-1180.

Adams, S. M., Bosch, E., Balaresque, P. L., Ballereau, S. J., Lee, A. C., Arroyo, E., Lopez-Parra, A. M., Aler, M., Grifo, M. S., Brion, M., Carracedo, A., Lavinha, J., Martinez-Jarreta, B., Quintana-Murci, L., Picornell, A., Ramon, M., Skorecki, K., Behar, D. M., Calafell, F. and Jobling, M. A. (2008). The genetic legacy of religious diversity and intolerance: paternal lineages of Christians, Jews, and Muslims in the Iberian Peninsula. Am J Hum Genet 83, 725-736.

2007
Zhang, S. Y., Jouanguy, E., Ugolini, S., Smahi, A., Elain, G., Romero, P., Segal, D., Sancho-Shimizu, V., Lorenzo, L., Puel, A., Picard, C., Chapgier, A., Plancoulaine, S., Titeux, M., Cognet, C., von Bernuth, H., Ku, C. L., Casrouge, A., Zhang, X. X., Barreiro, L., Leonard, J., Hamilton, C., Lebon, P., Heron, B., Vallee, L., Quintana-Murci, L., Hovnanian, A., Rozenberg, F., Vivier, E., Geissmann, F., Tardieu, M., Abel, L. and Casanova, J. L. (2007). TLR3 deficiency in patients with herpes simplex encephalitis. Science 317, 1522-1527.

Quintana-Murci, L., Alcais, A., Abel, L. and Casanova, J. L. (2007). Immunology in natura: clinical, epidemiological and evolutionary genetics of infectious diseases. Nat Immunol 8, 1165-1171.

Chaix, R., Quintana-Murci, L., Hegay, T., Hammer, M. F., Mobasher, Z., Austerlitz, F. and Heyer, E. (2007). From social to genetic structures in central Asia. Curr Biol 17, 43-48.

Ben-Ali, M., Barreiro, L. B., Chabbou, A., Haltiti, R., Braham, E., Neyrolles, O., Dellagi, K., Gicquel, B., Quintana-Murci, L. and Barbouche, M. R. (2007). Promoter and neck region length variation of DC-SIGN is not associated with susceptibility to tuberculosis in Tunisian patients. Hum Immunol 68, 908-912.

Behar, D. M., Rosset, S., Blue-Smith, J., Balanovsky, O., Tzur, S., Comas, D., Mitchell, R. J., Quintana-Murci, L., Tyler-Smith, C. and Wells, R. S. (2007). The Genographic Project public participation mitochondrial DNA database. PLoS Genet 3, e104.

Barreiro, L. B., Neyrolles, O., Babb, C. L., van Helden, P. D., Gicquel, B., Hoal, E. G. and Quintana-Murci, L. (2007). Length variation of DC-SIGN and L-SIGN neck-region has no impact on tuberculosis susceptibility. Hum Immunol 68, 106-112.

2006

Verdu, P., Barreiro, L. B., Patin, E., Gessain, A., Cassar, O., Kidd, J. R., Kidd, K. K., Behar, D. M., Froment, A., Heyer, E., Sica, L., Casanova, J. L., Abel, L. and Quintana-Murci, L. (2006). Evolutionary insights into the high worldwide prevalence of MBL2 deficiency alleles. Hum Mol Genet 15, 2650-2658.

Rosas-Magallanes, V., Deschavanne, P., Quintana-Murci, L., Brosch, R., Gicquel, B. and Neyrolles, O. (2006). Horizontal transfer of a virulence operon to the ancestor of Mycobacterium tuberculosis. Mol Biol Evol 23, 1129-1135.

Quintana-Murci, L. (2006). [Natural selection of DC-SIGN and its homologues L-SIGN and mSIGNR1 in pathogen recognition and innate immunity]. Med Sci (Paris) 22, 29-32.

Patin, E., Harmant, C., Kidd, K. K., Kidd, J., Froment, A., Mehdi, S. Q., Sica, L., Heyer, E. and Quintana-Murci, L. (2006). Sub-Saharan African coding sequence variation and haplotype diversity at the NAT2 gene. Hum Mutat 27, 720.

Patin, E., Barreiro, L. B., Sabeti, P. C., Austerlitz, F., Luca, F., Sajantila, A., Behar, D. M., Semino, O., Sakuntabhai, A., Guiso, N., Gicquel, B., McElreavey, K., Harding, R. M., Heyer, E. and Quintana-Murci, L. (2006). Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes. Am J Hum Genet 78, 423-436.

Neyrolles, O., Gicquel, B. and Quintana-Murci, L. (2006). Towards a crucial role for DC-SIGN in tuberculosis and beyond. Trends Microbiol 14, 383-387.

Duprez, R., Hbid, O., Afonso, P., Quach, H., Belloul, L., Fajali, N., Ismaili, N., Benomar, H., Hassane Tahri, E., Huerre, M., Quintana-Murci, L. and Gessain, A. (2006). Molecular epidemiology of the HHV-8 K1 gene from Moroccan patients with Kaposi’s sarcoma. Virology 353, 121-132.

Behar, D. M., Metspalu, E., Kivisild, T., Achilli, A., Hadid, Y., Tzur, S., Pereira, L., Amorim, A., Quintana-Murci, L., Majamaa, K., Herrnstadt, C., Howell, N., Balanovsky, O., Kutuev, I., Pshenichnov, A., Gurwitz, D., Bonne-Tamir, B., Torroni, A., Villems, R. and Skorecki, K. (2006). The matrilineal ancestry of Ashkenazi Jewry: portrait of a recent founder event. Am J Hum Genet 78, 487-497.

Barreiro, L. B. and Quintana-Murci, L. (2006). DC-SIGNR neck-region polymorphisms and HIV-1 susceptibility: From population stratification to a possible advantage of the 7/5 heterozygous genotype. J Infect Dis 194, 1184-1185; author reply 1185-1187.

Barreiro, L. B., Quach, H., Krahenbuhl, J., Khaliq, S., Mohyuddin, A., Mehdi, S. Q., Gicquel, B., Neyrolles, O. and Quintana-Murci, L. (2006). DC-SIGN interacts with Mycobacterium leprae but sequence variation in this lectin is not associated with leprosy in the Pakistani population. Hum Immunol 67, 102-107.

Barreiro, L. B., Neyrolles, O., Babb, C. L., Tailleux, L., Quach, H., McElreavey, K., Helden, P. D., Hoal, E. G., Gicquel, B. and Quintana-Murci, L. (2006). Promoter variation in the DC-SIGN-encoding gene CD209 is associated with tuberculosis. PLoS Med 3, e20.

2005

Quintana-Murci, L., Gal, I., Bakhan, T., Quach, H., Sayar, S. H., Shiri-Sverdlov, R., Baruch, R. G., McElreavey, K., Dagan, E., Narod, S. and Friedman, E. (2005). The Tyr978X BRCA1 mutation: occurrence in non-Jewish Iranians and haplotype in French-Canadian and non-Ashkenazi Jews. Fam Cancer 4, 85-88.

McElreavey, K. and Quintana-Murci, L. (2005). A population genetics perspective of the Indus Valley through uniparentally-inherited markers. Ann Hum Biol 32, 154-162.

Barreiro, L. B., Patin, E., Neyrolles, O., Cann, H. M., Gicquel, B. and Quintana-Murci, L. (2005). The heritage of pathogen pressures and ancient demography in the human innate-immunity CD209/CD209L region. Am J Hum Genet 77, 869-886.