Genomic runs of homozygosity record population history and consanguinity.

The human genome is characterised by many runs of homozygous genotypes, where identical haplotypes were inherited from each parent. The length of each run is determined partly by the number of generations since the common ancestor: offspring of cousin marriages have long runs of homozygosity (ROH),...

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Autores principales:	Mirna Kirin, Ruth McQuillan, Christopher S Franklin, Harry Campbell, Paul M McKeigue, James F Wilson
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2010
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/97fc13310262473f87ef596312f05c6e
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spelling	oai:doaj.org-article:97fc13310262473f87ef596312f05c6e2021-11-18T07:36:49ZGenomic runs of homozygosity record population history and consanguinity.1932-620310.1371/journal.pone.0013996https://doaj.org/article/97fc13310262473f87ef596312f05c6e2010-11-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21085596/?tool=EBIhttps://doaj.org/toc/1932-6203The human genome is characterised by many runs of homozygous genotypes, where identical haplotypes were inherited from each parent. The length of each run is determined partly by the number of generations since the common ancestor: offspring of cousin marriages have long runs of homozygosity (ROH), while the numerous shorter tracts relate to shared ancestry tens and hundreds of generations ago. Human populations have experienced a wide range of demographic histories and hold diverse cultural attitudes to consanguinity. In a global population dataset, genome-wide analysis of long and shorter ROH allows categorisation of the mainly indigenous populations sampled here into four major groups in which the majority of the population are inferred to have: (a) recent parental relatedness (south and west Asians); (b) shared parental ancestry arising hundreds to thousands of years ago through long term isolation and restricted effective population size (N(e)), but little recent inbreeding (Oceanians); (c) both ancient and recent parental relatedness (Native Americans); and (d) only the background level of shared ancestry relating to continental N(e) (predominantly urban Europeans and East Asians; lowest of all in sub-Saharan African agriculturalists), and the occasional cryptically inbred individual. Moreover, individuals can be positioned along axes representing this demographic historic space. Long runs of homozygosity are therefore a globally widespread and under-appreciated characteristic of our genomes, which record past consanguinity and population isolation and provide a distinctive record of the demographic history of an individual's ancestors. Individual ROH measures will also allow quantification of the disease risk arising from polygenic recessive effects.Mirna KirinRuth McQuillanChristopher S FranklinHarry CampbellPaul M McKeigueJames F WilsonPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 5, Iss 11, p e13996 (2010)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Mirna Kirin Ruth McQuillan Christopher S Franklin Harry Campbell Paul M McKeigue James F Wilson Genomic runs of homozygosity record population history and consanguinity.
description	The human genome is characterised by many runs of homozygous genotypes, where identical haplotypes were inherited from each parent. The length of each run is determined partly by the number of generations since the common ancestor: offspring of cousin marriages have long runs of homozygosity (ROH), while the numerous shorter tracts relate to shared ancestry tens and hundreds of generations ago. Human populations have experienced a wide range of demographic histories and hold diverse cultural attitudes to consanguinity. In a global population dataset, genome-wide analysis of long and shorter ROH allows categorisation of the mainly indigenous populations sampled here into four major groups in which the majority of the population are inferred to have: (a) recent parental relatedness (south and west Asians); (b) shared parental ancestry arising hundreds to thousands of years ago through long term isolation and restricted effective population size (N(e)), but little recent inbreeding (Oceanians); (c) both ancient and recent parental relatedness (Native Americans); and (d) only the background level of shared ancestry relating to continental N(e) (predominantly urban Europeans and East Asians; lowest of all in sub-Saharan African agriculturalists), and the occasional cryptically inbred individual. Moreover, individuals can be positioned along axes representing this demographic historic space. Long runs of homozygosity are therefore a globally widespread and under-appreciated characteristic of our genomes, which record past consanguinity and population isolation and provide a distinctive record of the demographic history of an individual's ancestors. Individual ROH measures will also allow quantification of the disease risk arising from polygenic recessive effects.
format	article
author	Mirna Kirin Ruth McQuillan Christopher S Franklin Harry Campbell Paul M McKeigue James F Wilson
author_facet	Mirna Kirin Ruth McQuillan Christopher S Franklin Harry Campbell Paul M McKeigue James F Wilson
author_sort	Mirna Kirin
title	Genomic runs of homozygosity record population history and consanguinity.
title_short	Genomic runs of homozygosity record population history and consanguinity.
title_full	Genomic runs of homozygosity record population history and consanguinity.
title_fullStr	Genomic runs of homozygosity record population history and consanguinity.
title_full_unstemmed	Genomic runs of homozygosity record population history and consanguinity.
title_sort	genomic runs of homozygosity record population history and consanguinity.
publisher	Public Library of Science (PLoS)
publishDate	2010
url	https://doaj.org/article/97fc13310262473f87ef596312f05c6e
work_keys_str_mv	AT mirnakirin genomicrunsofhomozygosityrecordpopulationhistoryandconsanguinity AT ruthmcquillan genomicrunsofhomozygosityrecordpopulationhistoryandconsanguinity AT christophersfranklin genomicrunsofhomozygosityrecordpopulationhistoryandconsanguinity AT harrycampbell genomicrunsofhomozygosityrecordpopulationhistoryandconsanguinity AT paulmmckeigue genomicrunsofhomozygosityrecordpopulationhistoryandconsanguinity AT jamesfwilson genomicrunsofhomozygosityrecordpopulationhistoryandconsanguinity
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Genomic runs of homozygosity record population history and consanguinity.

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