Bovine ABCG2 gene missense mutations and uses thereof

James K Drackley; Denis M Larkin; Mark R Band; Moshe Shani; Miri Cohen-Zinder; Micha Ron; Harris A Lewin; Joel Ira Weller; Seroussi Eyal; Juan J Loor

Bovine ABCG2 gene missense mutations and uses thereof

James K Drackley (Inventor), Denis M Larkin (Inventor), Mark R Band (Inventor), Moshe Shani (Inventor), Miri Cohen-Zinder (Inventor), Micha Ron (Inventor), Harris A Lewin (Inventor), Joel Ira Weller (Inventor), Seroussi Eyal (Inventor), Juan J Loor (Inventor)

Research output: Patent

Abstract

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.

Original language	English (US)
U.S. patent number	7803919
Filing date	6/28/06
State	Published - Sep 28 2010

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title = "Bovine ABCG2 gene missense mutations and uses thereof",

abstract = "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.",

author = "Drackley, {James K} and Larkin, {Denis M} and Band, {Mark R} and Moshe Shani and Miri Cohen-Zinder and Micha Ron and Lewin, {Harris A} and Weller, {Joel Ira} and Seroussi Eyal and Loor, {Juan J}",

note = "This invention was made with Government support under Contract No. IS-3103-99CR between the U.S. Israel Bi-national Agricultural Research and Development; and U.S. Department of Agriculture (USDA)—CSREES Livestock Genome Sequencing Initiative. The Government has certain rights in this invention.; 7803919",

year = "2010",

month = sep,

day = "28",

language = "English (US)",

type = "Patent",

}

TY - PAT

T1 - Bovine ABCG2 gene missense mutations and uses thereof

AU - Drackley, James K

AU - Larkin, Denis M

AU - Band, Mark R

AU - Shani, Moshe

AU - Cohen-Zinder, Miri

AU - Ron, Micha

AU - Lewin, Harris A

AU - Weller, Joel Ira

AU - Eyal, Seroussi

AU - Loor, Juan J

N1 - This invention was made with Government support under Contract No. IS-3103-99CR between the U.S. Israel Bi-national Agricultural Research and Development; and U.S. Department of Agriculture (USDA)—CSREES Livestock Genome Sequencing Initiative. The Government has certain rights in this invention.

PY - 2010/9/28

Y1 - 2010/9/28

N2 - 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.

AB - 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.

M3 - Patent

M1 - 7803919

Y2 - 2006/06/28

ER -

Bovine ABCG2 gene missense mutations and uses thereof

Abstract

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