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Global diversity, population stratification, and selection of human copy-number variation
- Source :
- Science (New York, N.Y.), vol 349, iss 6253, CONICET Digital (CONICET), Consejo Nacional de Investigaciones Científicas y Técnicas, instacron:CONICET, CIC Digital (CICBA), Comisión de Investigaciones Científicas de la Provincia de Buenos Aires, instacron:CICBA, Recercat. Dipósit de la Recerca de Catalunya, instname, Digital.CSIC. Repositorio Institucional del CSIC
- Publication Year :
- 2015
- Publisher :
- eScholarship, University of California, 2015.
-
Abstract
- Sudmant, Peter H. et al.<br />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.<br />This project has been funded in part with federal funds from the National Cancer Institute, NIH, under contract HHSN26120080001E. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does the mention of trade names, commercial products, or organizations imply endorsement by the U.S. government. This research was supported in part by the Intramural Research Program of the NIH, National Cancer Institute, Center for Cancer Research. This work was also partly supported by NIH grant 2R01HG002385 and a grant (11631) from the Paul G. Allen Family Foundation to E.E.E. The sequencing for this study was supported by a grant from the Simons Foundation to D.R. (SFARI 280376) and by a HOMINID grant from the NSF to D.R. (BCS-1032255). T.K. is supported by a European Research Council Starting Investigator grant (FP7 - 26213). R.S. and S.D. received support from the Ministry of Education and Science, Russian Federation (14.Z50.31.0010). H.S., E.M., R.V., and M.M. are supported by Institutional Research Funding from the Estonian Research Council IUT24-1 and by the European Regional Development Fund (European Union) through the Centre of Excellence in Genomics to Estonian Biocentre and University of Tartu. S.A.T. is supported by NIH grants 5DP1ES022577 05, 1R01DK104339-01, and 1R01GM113657-01. C.T.-S. is supported by Wellcome Trust grant 098051. C.M.B. is supported by the NSF (award numbers 0924726 and 1153911). E.E.E. and D.R. are investigators of the Howard Hughes Medical Institute. Data are deposited into ENA (PRJEB9586 or ERP010710), and variant calls are deposited in dbVar (PRJNA285786). E.E.E. is on the scientific advisory board of DNAnexus, Incorporated, and is a consultant for Kunming University of Science and Technology (KUST) as part of the 1000 China Talent Program.
- Subjects :
- Native Hawaiian or Other Pacific Islander
Evolució molecular
Population genetics
Genoma humà
Genome
purl.org/becyt/ford/1 [https]
Gene Duplication
Copy-number variation
health care economics and organizations
Phylogeny
Segmental duplication
African Continental Ancestry Group
Sequence Deletion
Genetics
education.field_of_study
Multidisciplinary
Hominidae
INDEL
Single Nucleotide
Blacks
3. Good health
Oceanic Ancestry Group
Duplicació cromosòmica
Human
Lineage (genetic)
population stratification
DNA Copy Number Variations
Evolution
General Science & Technology
Population
Black People
global diversity
Biology
Population stratification
Polymorphism, Single Nucleotide
Article
Evolution, Molecular
Biología Celular, Microbiología
Genetic
Animals
Humans
Selection, Genetic
Polymorphism
education
purl.org/becyt/ford/1.6 [https]
Selection
COPY NUMBER VARIATION
selection of human copy number variation
Genome, Human
Polimorfisme genètic
Human Genome
Molecular
Human genome
Subjects
Details
- Database :
- OpenAIRE
- Journal :
- Science (New York, N.Y.), vol 349, iss 6253, CONICET Digital (CONICET), Consejo Nacional de Investigaciones Científicas y Técnicas, instacron:CONICET, CIC Digital (CICBA), Comisión de Investigaciones Científicas de la Provincia de Buenos Aires, instacron:CICBA, Recercat. Dipósit de la Recerca de Catalunya, instname, Digital.CSIC. Repositorio Institucional del CSIC
- Accession number :
- edsair.doi.dedup.....c747ab37e5d0812bee8c01a7b01e4b6d