公开(公告)号：US20070118912A1

公开(公告)日：2007-05-24

申请号：US11427230

申请日：2006-06-28

申请人： Eyal Seroussi ,  Harris Lewin ,  Mark Band ,  Miri Cohen-Zinder ,  James Drackley ,  Denis Larkin ,  Juan Loor ,  Micha Ron ,  Moshe Shani ,  Joel Weller

发明人： Eyal Seroussi ,  Harris Lewin ,  Mark Band ,  Miri Cohen-Zinder ,  James Drackley ,  Denis Larkin ,  Juan Loor ,  Micha Ron ,  Moshe Shani ,  Joel Weller

IPC分类号： A01K67/027 ,  C12Q1/68 ,  C07H21/04

CPC分类号： C12Q1/6888 ,  C07K14/705 ,  C12Q1/6883 ,  C12Q2600/156 ,  C12Q2600/158 ,  C12Q2600/172

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 BM143. The genes and sequence variation in this region were characterized, and common haplotypes spanning five polymorphic sites in the genes IBSP, SPP1, PKD2, and ABCG2 for two sires heterozygous for this QTL were localized. Expression of SPP1 and ABCG2 in the bovine mammary gland increased from parturition through lactation. SPP1 was sequenced, and all the coding exons of ABCG2 and PKD2 were sequenced for these two sires. The single nucleotide change capable of encoding a substitution of tyrosine-581 to serine (Y581S) in the ABCG2 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.

摘要翻译： 影响乳脂肪和蛋白质浓度的数量性状基因座（QTL）定位于以微卫星BM143为中心的染色体6上的4cM置信区间。 对该区域的基因和序列变异进行了表征，对于该QTL杂合的两个引物，IBSP，SPP1，PKD2和ABCG2基因的五个多态性位点的常见单倍型进行了定位。 牛乳腺中SPP1和ABCG2的表达从分娩到哺乳期增加。 对SPP1进行测序，并对这两个家系对ABCG2和PKD2的所有编码外显子进行测序。 在ABCG2转运蛋白中能够编码酪氨酸581替代丝氨酸（Y581S）的单核苷酸变化是唯一对应于以色列和美国荷斯坦人群中QTL所有三个杂合子和15个纯合子的分离状态的多态性。