European admixture on the Micronesian island of Kosrae: lessons from complete genetic information

被引:8
作者
Bonnen, Penelope E. [1 ]
Lowe, Jennifer K. [2 ,3 ,4 ,5 ]
Altshuler, David M. [3 ,4 ,5 ,6 ,8 ]
Breslow, Jan L. [2 ]
Stoffel, Markus [2 ]
Friedman, Jeffrey M. [2 ,7 ]
Pe'er, Itsik [9 ]
机构
[1] Baylor Coll Med, Dept Mol & Human Genet, Human Genome Sequencing Ctr, Houston, TX 77030 USA
[2] Rockefeller Univ, Program Mol & Human Genet, New York, NY 10021 USA
[3] Massachusetts Gen Hosp, Dept Mol Biol, Boston, MA 02114 USA
[4] Harvard Univ, Broad Inst, Program Med & Populat Genet, Cambridge, MA 02138 USA
[5] MIT, Cambridge, MA 02139 USA
[6] Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA
[7] Howard Hughes Med Inst, Chevy Chase, MD USA
[8] Harvard Univ, Sch Med, Dept Med, Boston, MA USA
[9] Columbia Univ, Dept Comp Sci, New York, NY 10027 USA
关键词
admixture; haplotype; population genetics; mitochondria; Y chromosome; Oceania; POPULATION-STRUCTURE; MTDNA; ASSOCIATION; ORIGINS; GENOME; RECOMBINATION; POLYMORPHISMS; POLYNESIANS; HAPLOTYPES; ANCESTRY;
D O I
10.1038/ejhg.2009.180
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
The architecture of natural variation present in a contemporary population is a result of multiple population genetic forces, including population bottleneck and expansion, selection, drift, and admixture. We seek to untangle the contribution of admixture to genetic diversity on the Micronesian island of Kosrae. Toward this goal, we used a complete genetic approach by combining a dense genome-wide map of 100 000 single-nucleotide polymorphisms (SNPs) with data from uniparental markers from the mitochondrial genome and the nonrecombining portion of the Y chromosome. These markers were typed in similar to 3200 individuals from Kosrae, representing 80% of the adult population of the island. We developed novel software that uses SNP data to delineate ancestry for individual segments of the genome. Through this analysis, we determined that 39% of Kosraens have some European ancestry. However, the vast majority of admixed individuals (77%) have European alleles spanning less than 10% of their genomes. Data from uniparental markers show most of this admixture to be male, introduced in the late nineteenth century. Furthermore, pedigree analysis shows that the majority of European admixture on Kosrae is because of the contribution of one individual. This approach shows the benefit of combining information from autosomal and uniparental polymorphisms and provides new methodology for determining ancestry in a population. European Journal of Human Genetics (2010) 18, 309-316; doi: 10.1038/ejhg.2009.180; published online 21 October 2009
引用
收藏
页码:309 / 316
页数:8
相关论文
共 30 条
  • [1] A haplotype map of the human genome
    Altshuler, D
    Brooks, LD
    Chakravarti, A
    Collins, FS
    Daly, MJ
    Donnelly, P
    Gibbs, RA
    Belmont, JW
    Boudreau, A
    Leal, SM
    Hardenbol, P
    Pasternak, S
    Wheeler, DA
    Willis, TD
    Yu, FL
    Yang, HM
    Zeng, CQ
    Gao, Y
    Hu, HR
    Hu, WT
    Li, CH
    Lin, W
    Liu, SQ
    Pan, H
    Tang, XL
    Wang, J
    Wang, W
    Yu, J
    Zhang, B
    Zhang, QR
    Zhao, HB
    Zhao, H
    Zhou, J
    Gabriel, SB
    Barry, R
    Blumenstiel, B
    Camargo, A
    Defelice, M
    Faggart, M
    Goyette, M
    Gupta, S
    Moore, J
    Nguyen, H
    Onofrio, RC
    Parkin, M
    Roy, J
    Stahl, E
    Winchester, E
    Ziaugra, L
    Shen, Y
    [J]. NATURE, 2005, 437 (7063) : 1299 - 1320
  • [2] Haploview: analysis and visualization of LD and haplotype maps
    Barrett, JC
    Fry, B
    Maller, J
    Daly, MJ
    [J]. BIOINFORMATICS, 2005, 21 (02) : 263 - 265
  • [3] Evaluating potential for whole-genome studies in Kosrae, an isolated population in Micronesia
    Bonnen, PE
    Pe'er, I
    Plenge, RM
    Salit, J
    Lowe, JK
    Shapero, MH
    Lifton, RP
    Breslow, JL
    Daly, MJ
    Reich, DE
    Jones, KW
    Stoffel, M
    Altshuler, D
    Friedman, JM
    [J]. NATURE GENETICS, 2006, 38 (02) : 214 - 217
  • [4] ADMIXTURE AS A TOOL FOR FINDING LINKED GENES AND DETECTING THAT DIFFERENCE FROM ALLELIC ASSOCIATION BETWEEN LOCI
    CHAKRABORTY, R
    WEISS, KM
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1988, 85 (23) : 9119 - 9123
  • [5] Polymorphic variation in human meiotic recombination
    Cheung, Vivian G.
    Burdick, Joshua T.
    Hirschmann, Deborah
    Morley, Michael
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 80 (03) : 526 - 530
  • [6] DEKA R, 1994, HUM BIOL, V66, P805
  • [7] *FED STAT MINN NAT, 2000, 2000 CENS FED STAT M
  • [8] Assessing the impact of population stratification on genetic association studies
    Freedman, ML
    Reich, D
    Penney, KL
    McDonald, GJ
    Mignault, AA
    Patterson, N
    Gabriel, SB
    Topol, EJ
    Smoller, JW
    Pato, CN
    Pato, MT
    Petryshen, TYL
    Kolonel, LN
    Lander, ES
    Sklar, P
    Henderson, B
    Hirschhorn, JN
    Altshuler, D
    [J]. NATURE GENETICS, 2004, 36 (04) : 388 - 393
  • [9] Y-chromosome-specific STR haplotype data on the Rapanui population (Easter Island)
    Ghiani, Maria Elena
    Moral, Pedro
    Mitchell, Robert John
    Hernandez, Miguel
    Garcia-Moro, Clara
    Vona, Giuseppe
    [J]. HUMAN BIOLOGY, 2006, 78 (05) : 565 - 578
  • [10] European y-chromosomal lineages in Polynesians: A contrast to the population structure revealed by mtDNA
    Hurles, ME
    Irven, C
    Nicholson, J
    Taylor, PG
    Santos, FR
    Loughlin, J
    Jobling, MA
    Sykes, BC
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (06) : 1793 - 1806