Runs of homozygosity: windows into population history and trait architecture

被引：412
|
作者：
Ceballos, Francisco C. [1 ,2 ]
Joshi, Peter K. [3 ]
Clark, David W. [3 ]
Ramsay, Michele [1 ,4 ]
Wilson, James F. [2 ,3 ]
机构：
[1] Univ Witwatersrand, Fac Hlth Sci, Sydney Brenner Inst Mol Biosci, ZA-2193 Johannesburg, South Africa
[2] Univ Edinburgh, Western Gen Hosp, Inst Genet & Mol Med, Human Genet Unit,MRC, Edinburgh EH4 2XU, Midlothian, Scotland
[3] Univ Edinburgh, Usher Inst Populat Hlth Sci & Informat, Ctr Global Hlth Res, Teviot Pl, Edinburgh EH8 9AG, Midlothian, Scotland
[4] Univ Witwatersrand, Fac Hlth Sci, Sch Pathol, Div Human Genet, ZA-2000 Johannesburg, South Africa
来源：
NATURE REVIEWS GENETICS | 2018年 / 19卷 / 04期
基金：
新加坡国家研究基金会; 英国医学研究理事会;
关键词：
GENOME-WIDE HOMOZYGOSITY; LONG RUNS; INBREEDING DEPRESSION; EXTENDED HOMOZYGOSITY; GENETIC DIVERSITY; CANDIDATE GENES; RECESSIVE LOCI; AUTOZYGOSITY; RISK; DISEASE;
D O I：
10.1038/nrg.2017.109
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Long runs of homozygosity (ROH) arise when identical haplotypes are inherited from each parent and thus a long tract of genotypes is homozygous. Cousin marriage or inbreeding gives rise to such autozygosity; however, genome-wide data reveal that ROH are universally common in human genomes even among outbred individuals. The number and length of ROH reflect individual demographic history, while the homozygosity burden can be used to investigate the genetic architecture of complex disease. We discuss how to identify ROH in genome- wide microarray and sequence data, their distribution in human populations and their application to the understanding of inbreeding depression and disease risk.
引用
收藏
页码：220 / +
页数：16
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