Bovine ABCG2 gene missense mutations and uses thereof

摘要

A quantitative trait locus (QTL) affecting milk fat and protein concentration was localized to a 4cM confidence interval on chromosome 6 centered on the microsatellite . The genes and sequence variation in this region were characterized, and common haplotypes spanning five polymorphic sites in the genes , , , and for two sires heterozygous for this QTL were localized. Expression of and in the bovine mammary gland increased from parturition through lactation. was sequenced, and all the coding exons of and were sequenced for these two sires. The single nucleotide change capable of encoding a substitution of tyrosine-581 to serine (Y581S) in the transporter was the only polymorphism corresponding to the segregation status of all three heterozygous and 15 homozygous sires for the QTL in the Israeli and US Holstein populations.