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Please use this identifier to cite or link to this item: http://hdl.handle.net/11019/238

Title: Runs of homozygosity and population history in cattle
Authors: Purfield, Deirdre C
Berry, Donagh P.
McParland, Sinead
Bradley, Daniel G
Keywords: Runs of homozygosity
High density bi-allelic SNPs
Pedigree-based inbreeding coefficients
Issue Date: 14-Aug-2012
Publisher: Biomed Central
Citation: Purfield, D.C. et al Runs of homozygosity and population history in cattle. BMC Genetics. 2012, 13(1), 70-81. DOI: 10.1186/1471-2156-13-70
Series/Report no.: BMC Genetics
Abstract: Background: Runs of homozygosity (ROH) are contiguous lengths of homozygous genotypes that are present in an individual due to parents transmitting identical haplotypes to their offspring. The extent and frequency of ROHs may inform on the ancestry of an individual and its population. Here we use high density (n = 777,962) bi-allelic SNPs in a range of cattle breed samples to correlate ROH with the pedigree-based inbreeding coefficients and to validate subsequent analyses using 54,001 SNP genotypes. This study provides a first testing of the inference drawn from ROH through comparison with estimates of inbreeding from calculations based on the detailed pedigree data available for several breeds. Results: All animals genotyped on the HD panel displayed at least one ROH that was between 1–5 Mb in length with certain regions of the genome more likely to be involved in a ROH than others. Strong correlations (r = 0.75, p < 0.0001) existed between the pedigree-based inbreeding coefficient and a statistic based on sum of ROH of length > 0.5 KB and suggests that in the absence of an animal’s pedigree data, the extent of a genome under ROH may be used to infer aspects of recent population history even from relatively few samples. Conclusions: Our findings suggest that ROH are frequent across all breeds but differing patterns of ROH length and burden illustrate variations in breed origins and recent management.
Description: peer-reviewed
URI: http://hdl.handle.net/11019/238
Appears in Collections:Animal & Bioscience
Livestock Systems
Teagasc publications in Biomed Central

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