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Open Access Highly Accessed Research article

An examination of positive selection and changing effective population size in Angus and Holstein cattle populations (Bos taurus) using a high density SNP genotyping platform and the contribution of ancient polymorphism to genomic diversity in Domestic cattle

Sean MacEachern125*, Ben Hayes1, John McEwan3 and Mike Goddard14

Author affiliations

1 Primary Industries Research Victoria, Animal Genetics and Genomics, Attwood VIC 3049, Australia

2 Latrobe University, Department of Genetics, Bundoora VIC 3086, Australia

3 Animal Genomics, AgResearch, Invermay, Private Bag 50034, Mosgiel, New Zealand

4 Melbourne University, School of Agriculture and Food Systems, Melbourne, VIC 3000, Australia

5 Avian Disease and Oncology Laboratory 3606 E Mt. Hope Rd, East Lansing, MI 48823, USA

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Citation and License

BMC Genomics 2009, 10:181  doi:10.1186/1471-2164-10-181

Published: 24 April 2009

Abstract

Background

Identifying recent positive selection signatures in domesticated animals could provide information on genome response to strong directional selection from domestication and artificial selection. With the completion of the cattle genome, private companies are now providing large numbers of polymorphic markers for probing variation in domestic cattle (Bos taurus). We analysed over 7,500 polymorphic single nucleotide polymorphisms (SNP) in beef (Angus) and dairy (Holstein) cattle and outgroup species Bison, Yak and Banteng in an indirect test of inbreeding and positive selection in Domestic cattle.

Results

Outgroup species: Bison, Yak and Banteng, were genotyped with high levels of success (90%) and used to determine ancestral and derived allele states in domestic cattle. Frequency spectrums of the derived alleles in Angus and Holstein were examined using Fay and Wu's H test. Significant divergences from the predicted frequency spectrums expected under neutrality were identified. This appeared to be the result of combined influences of positive selection, inbreeding and ascertainment bias for moderately frequent SNP. Approximately 10% of all polymorphisms identified as segregating in B. taurus were also segregating in Bison, Yak or Banteng; highlighting a large number of polymorphisms that are ancient in origin.

Conclusion

These results suggest that a large effective population size (Ne) of approximately 90,000 or more existed in B. taurus since they shared a common ancestor with Bison, Yak and Banteng ~1–2 million years ago (MYA). More recently Ne decreased sharply probably associated with domestication. This may partially explain the paradox of high levels of polymorphism in Domestic cattle and the relatively small recent Ne in this species. The period of inbreeding caused Fay and Wu's H statistic to depart from its expectation under neutrality mimicking the effect of selection. However, there was also evidence for selection, because high frequency derived alleles tended to cluster near each other on the genome.