A sequence-based variation map of 8.27 million SNPs in inbred mouse strains

被引:348
作者
Frazer, Kelly A.
Eskin, Eleazar
Kang, Hyun Min
Bogue, Molly A.
Hinds, David A.
Beilharz, Erica J.
Gupta, Robert V.
Montgomery, Julie
Morenzoni, Matt M.
Nilsen, Geoffrey B.
Pethiyagoda, Charit L.
Stuve, Laura L.
Johnson, Frank M.
Daly, Mark J.
Wade, Claire M.
Cox, David R.
机构
[1] Perlegen Sci, Mountain View, CA 94043 USA
[2] Univ Calif Los Angeles, Dept Comp Sci, Los Angeles, CA 90095 USA
[3] Univ Calif Los Angeles, Dept Human Genet, Los Angeles, CA 90095 USA
[4] Univ Calif San Diego, Dept Comp Sci & Engn, La Jolla, CA 92093 USA
[5] Jackson Lab, Bar Harbor, ME 04609 USA
[6] NIEHS, Toxicol Operat Branch, Res Triangle Pk, NC 27709 USA
[7] Harvard Univ, Broad Inst, Cambridge, MA 02142 USA
[8] MIT, Cambridge, MA 02142 USA
[9] Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA
关键词
D O I
10.1038/nature06067
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
A dense map of genetic variation in the laboratory mouse genome will provide insights into the evolutionary history of the species(1) and lead to an improved understanding of the relationship between inter-strain genotypic and phenotypic differences. Here we resequence the genomes of four wild-derived and eleven classical strains. We identify 8.27 million high-quality single nucleotide polymorphisms (SNPs) densely distributed across the genome, and determine the locations of the high (divergent subspecies ancestry) and low (common subspecies ancestry) SNP-rate intervals(2-6) for every pairwise combination of classical strains. Using these data, we generate a genome-wide haplotype map containing 40,898 segments, each with an average of three distinct ancestral haplotypes. For the haplotypes in the classical strains that are unequivocally assigned ancestry, the genetic contributions of the Mus musculus subspecies-M. m. domesticus, M. m. musculus, M. m. castaneus and the hybrid M. m. molossinus-are 68%, 6%, 3% and 10%, respectively; the remaining 13% of haplotypes are of unknown ancestral origin. The considerable regional redundancy of the SNP data will facilitate imputation of the majority of these genotypes in less-densely typed classical inbred strains to provide a complete view of variation in additional strains.
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页码:1050 / U8
页数:6
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