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The Hunt for a Functional Mutation Affecting Conformation and Calving Traits on Chromosome 18 in Holstein Cattle

Thursday, August 21, 2014: 5:00 PM
Bayshore Grand Ballroom E-F (The Westin Bayshore)
John B Cole , Animal Improvement Programs Laboratory, Agricultural Research Service, United States Department of Agriculture, Beltsville, MD
J L Hutchison , Animal Improvement Programs Laboratory, USDA-ARS, Beltsville, MD
Daniel J Null , Animal Improvement Programs Laboratory, Agricultural Research Service, United States Department of Agriculture, Beltsville, MD
Paul M VanRaden , Animal Improvement Programs Laboratory, USDA-ARS, Beltsville, MD
George E Liu , Bovine Functional Genomics Laboratory, ARS, USDA, Beltsville, MD
Steven G Schroeder , Bovine Functional Genomics Laboratory, ARS, USDA, Beltsville, MD
Timothy P. L. Smith , USDA, ARS, U.S. Meat Animal Research Center, Clay Center, NE
Tad S. Sonstegard , USDA, ARS, BFGL, Beltsville, MD
Curt P VanTassell , Bovine Functional Genomics Laboratory ARS-USDA, Beltsville, MD
Derek Bickhart , USDA-ARS-AIPL, Beltsville, MD
Abstract Text: Sequence data from 11 Holstein bulls were analyzed to identify causal mutations associated with calving and conformation traits. The SNP ARS-BFGL-NGS-109285 at 57,589,121 bp (UMD 3.1 assembly) on BTA18 has large effects on body shape and size, measures of dystocia, longevity, and lifetime economic merit. This region includes a human sialic acid Ig-like lectin 6 (Siglec-6) gene. We sequenced a homozygote for the minor allele, 4 carriers, and 3 non-carrier bulls from the same family. Three unrelated carrier bulls also were sequenced. Tandem duplications, insertions, and deletions were detected with custom software that uses paired-end read alignments and split-read mapping. One duplication CNV and two tandem duplication events were detected within the gene. Predicted tandem duplications present in the carrier animals suggest that portions of two exons and a connecting intron within the Ig-like protein domains of Siglec-6 may have been duplicated.

Keywords: calving traits
dairy cattle
quantitative trait loci
whole-genome sequencing