Global diversity, population stratification, and selection of human copy number variation

• Autores: Sudmant, Peter H.; Mallick, Swapan; Nelson, Bradley J.; Hormozdiari, Fereydoun; Krumm, Niklas; Huddleston, John; Coe, Bradley P.; Baker, Carl; Nordenfelt, Susanne; Bamshad, Michael; Jorde, Lynn B.; Posukh, Olga L.; Sahakyan, Hovhannes; Watkins, W. Scott; Yepiskoposyan, Levon; Abdullah, M. Syafiq; Bravi, Claudio Marcelo; Capelli, Cristian; Hervig, Tor; Wee, Joseph TS; Tyler Smith, Chris; George van Driem; Gallego Romero, Irene; Jha, Aashish R.; Karachanak Yankova, Sena; Toncheva, Draga; Comas, David; Henn, Brenna; Kivisild, Toomas; Ruiz-Linares, Andres; Sajantila, Antti; Metspalu, Ene; Parik, Jüri; Villems, Richard; Starikovskaya, Elena B.; Ayodo, George; Beall, Cynthia M.; Di Rienzo, Anna; Hammer, Michael; Khusainova, Rita; Khusnutdinova, Elza; Klitz, William; Winkler, Cheryl; Labuda, Damian; Metspalu, Mait; Tishkoff, Sarah A.; Dryomov, Stanislav; Sukernik, Rem; Patterson, Nick; Reich, David; Eichler, Evan E.
• Año de publicación: 2015
• Idioma: inglés
• Tipo de recurso: artículo
• Materia: HUMAN GENOME; COPY NUMBER VARIATION; INDEL
• Institución: Consejo Nacional de Investigaciones Científicas y Técnicas

In order to explore the diversity and selective signatures of duplication and deletion human copy number variants (CNVs), we sequenced 236 individuals from 125 distinct human populations. We observed that duplications exhibit fundamentally different population genetic and selective signatures than deletions and are more likely to be stratified between human populations. Through reconstruction of the ancestral human genome, we identify megabases of DNA lost in different human lineages and pinpoint large duplications that introgressed from the extinct Denisova lineage now found at high frequency exclusively in Oceanic populations. We find that the proportion of CNV base pairs to single nucleotide variant base pairs is greater among non-Africans than it is among African populations but we conclude that this difference is likely due to unique aspects of non-African population history as opposed to differences in CNV load.
Fil: Sudmant, Peter H.. University of Washington; Estados Unidos
Fil: Mallick, Swapan. Broad Institute Of Harvard And Mit; Estados Unidos
Fil: Nelson, Bradley J.. University of Washington; Estados Unidos
Fil: Hormozdiari, Fereydoun. University of Washington; Estados Unidos
Fil: Krumm, Niklas. University of Washington; Estados Unidos
Fil: Huddleston, John. University of Washington; Estados Unidos
Fil: Coe, Bradley P.. University of Washington; Estados Unidos
Fil: Baker, Carl. University of Washington; Estados Unidos
Fil: Nordenfelt, Susanne. Broad Institute Of Harvard And Mit; Estados Unidos
Fil: Bamshad, Michael. University of Washington; Estados Unidos
Fil: Jorde, Lynn B.. University of Utah; Estados Unidos
Fil: Posukh, Olga L.. Siberian Branch Of Russian Academy Of Sciences; Rusia
Fil: Sahakyan, Hovhannes. National Academy Of Sciences Of Armenia; Armenia. Estonian Biocentre, Evolutionary Biology Group; Estonia
Fil: Watkins, W. Scott. University of Utah; Estados Unidos
Fil: Yepiskoposyan, Levon. National Academy Of Sciences Of Armenia; Armenia
Fil: Abdullah, M. Syafiq. Ripas Hospital; Brunéi
Fil: Bravi, Claudio Marcelo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina
Fil: Capelli, Cristian. University of Oxford; Reino Unido
Fil: Hervig, Tor. University of Bergen; Noruega
Fil: Wee, Joseph TS. National Cancer Centre Singapore; Singapur
Fil: Tyler Smith, Chris. The Wellcome Trust Sanger Institute; Reino Unido
Fil: George van Driem. University Of Bern; Suiza
Fil: Gallego Romero, Irene. University of Chicago; Estados Unidos
Fil: Jha, Aashish R.. University of Chicago; Estados Unidos
Fil: Karachanak Yankova, Sena. National Human Genome Center, Medical University Sofia; Bulgaria
Fil: Toncheva, Draga. National Human Genome Center, Medical University Sofia; Bulgaria
Fil: Comas, David. Universitat Pompeu Fabra; España
Fil: Henn, Brenna. Department Of Ecology And Evolution, Stony Brook Univer; Estados Unidos
Fil: Kivisild, Toomas. University of Cambridge; Reino Unido
Fil: Ruiz-Linares, Andres. University College London; Estados Unidos
Fil: Sajantila, Antti. University Of Helsinki; Finlandia
Fil: Metspalu, Ene. Estonian Biocentre, Evolutionary Biology Group; Estonia
Fil: Parik, Jüri. Estonian Biocentre, Evolutionary Biology Group; Estonia
Fil: Villems, Richard. Estonian Biocentre, Evolutionary Biology Group; Estonia
Fil: Starikovskaya, Elena B.. Siberian Branch Of Russian Academy Of Sciences; Rusia
Fil: Ayodo, George. Center For Global Health And Child Development; Kenia
Fil: Beall, Cynthia M.. Case Western Reserve University; Estados Unidos
Fil: Di Rienzo, Anna. University of Chicago; Estados Unidos
Fil: Hammer, Michael. University of Arizona; Estados Unidos
Fil: Khusainova, Rita. Ufa Research Centre, Russian Academy Of Sciences; Rusia
Fil: Khusnutdinova, Elza. Ufa Research Centre, Russian Academy Of Sciences; Rusia
Fil: Klitz, William. University of California; Estados Unidos
Fil: Winkler, Cheryl. Center For Cancer Research, Nci, Leidos Biomedical Res; Estados Unidos
Fil: Labuda, Damian. Pediatrics Departement, Université de Montréal; Canadá
Fil: Metspalu, Mait. Estonian Biocentre, Evolutionary Biology Group; Estonia
Fil: Tishkoff, Sarah A.. University of Pennsylvania; Estados Unidos
Fil: Dryomov, Stanislav. Siberian Branch Of Russian Academy Of Sciences; Rusia
Fil: Sukernik, Rem. Siberian Branch Of Russian Academy Of Sciences; Rusia
Fil: Patterson, Nick. Broad Institute Of Harvard And Mit; Estados Unidos
Fil: Reich, David. Broad Institute Of Harvard And Mit; Estados Unidos
Fil: Eichler, Evan E.. University of Washington; Estados Unidos