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Title: Genomic and evolutionary characteristics of cattle copy number variations

item HOU, YALI - University Of Maryland
item Liu, Ge - George
item CARDONE, MARIA - University Of Bari
item WANG, KAI - Children'S Hospital - Philadelphia, Pennsylvania
item Kim, Eui-Soo
item MATUKUMALLI, LAKSHMI - George Mason University
item VENTURA, MARIO - University Of Bari
item Vanraden, Paul
item Sonstegard, Tad
item Van Tassell, Curtis - Curt

Submitted to: Plant and Animal Genome Conference Proceedings
Publication Type: Abstract Only
Publication Acceptance Date: 11/4/2010
Publication Date: 1/15/2011
Citation: Hou, Y., Liu, G., Cardone, M.F., Wang, K., Kim, E., Matukumalli, L.K., Ventura, M., Van Raden, P.M., Sonstegard, T.S., Van Tassell, C.P. 2011. Genomic and evolutionary characteristics of cattle copy number variations [abstract]. Plant and Animal Genome Conference Proceedings. p. 537.

Interpretive Summary:

Technical Abstract: We performed a systematic analysis of cattle copy number variations (CNVs) using the Bovine HapMap SNP genotyping data, including 539 animals of 21 modern cattle breeds and 6 outgroups. After correcting genomic waves and considering the trio information, we identified 682 candidate CNV regions (CNVRs), which cover 139.8 megabases (~4.60%) of the genome. Selected CNVs were further validated by FISH or qPCR, and we found that duplication CNVs are predominantly tandem clustered repeats rather than interspersed duplications. Approximately 56% of the CNVRs overlap with 1,263 cattle genes, which are significantly enriched for immunity, lactation, reproduction and rumination. We compared this dataset with other published CNVRs datasets and the overlap was usually <40%; while considering large CNVRs with frequency>5%, the overlap increased to 90%, highlighting the differences and commonalities between technical platforms. A cluster analysis based on the copy number distributions of 3,456 polymorphic SNPs from 15 representative breeds indicated that Taurine, Indicine and African breeds were clearly separated, supporting three domesticated origins in Fertile Crescent, Indus Valley and Africa, respectively. The distribution of Taurine breeds also reflected their known historical and geographical origins. In conclusion, we presented a comprehensive genomic and evolutionary analysis of cattle CNVs by SNP arrays.