ARS | Publication request: Characterization of a novel microdeletion polymorphism on BTA5 in cattle

Submitted to: Animal Genetics
Publication Type: Peer Reviewed Journal
Publication Acceptance Date: April 30, 2008
Publication Date: N/A

Interpretive Summary: Although genomic structural variation, including copy number variation (CNV) were associated with individual health and disease, the structure and population characteristics of these variants remain largely unexplored. We present a detailed breakpoint mapping and population frequency analysis of a 214-kb microdeletion that removes multiple Olfactory Receptor genes. Using progressive cycles of PCR assays, we mapped the breakpoints of this microdeletion event into 1-12 kb genomic regions. We developed PCR-based genotyping assays, characterized 96 dairy cattle samples, and found that the frequency of the deletion allele is over 51%. These results indicated that this microdeletion is an ancient event occurring in one of the earlier founders, and it has been stably inherited across the generations in the dairy cattle population. Annotation of CNVs in the cattle genome combined with sequence and population-based analyses provides an important resource that will help define the genetic basis of complex traits.

Technical Abstract: We present a detailed breakpoint mapping and population frequency analysis of a 214-kb microdeletion that removes multiple Olfactory Receptor genes. Using progressive cycles of PCR assays, we mapped the breakpoints of this microdeletion event into 1-12 kb genomic regions. We developed PCR-based genotyping assays, characterized 96 dairy cattle samples, and found that the frequency of the deletion allele is over 51%. These results indicated that this microdeletion is an ancient event occurring in one of the earlier founders, and it has been stably inherited across the generations in the dairy cattle population.