Positional Candidate Cloning of a QTL in Dairy Cattle: Identification of a Missense Mutation in the Bovine DGAT1 Gene with Major Effect on Milk Yield and Composition

Genome Research - Tập 12 Số 2 - Trang 222-231 - 2002
Bernard Grisart1, Wouter Coppieters2, Frédéric Farnir3, Latifa Karim4, Christine A. Ford5, Paulette Berzi6, Nadine Cambisano4, Myriam Mni4, Suzanne J. Reid5, Patricia Simon6, Richard Spelman7, Michel Georges4, Russell G. Snell5
1† Department of Genetics, Faculty of Veterinary Medicine, University of Liège (B43), 4000-Liège, Belgium
2Université de Liège - ULg > Département de productions animales > Département de productions animales >
3Université de Liège - ULg > Département de productions animales > Biostatistique, économie, sélection animale >
4Université de Liège - ULg > Département de productions animales > Génomique animale >
5ViaLactia Biosciences (NZ) Ltd., University of Auckland Medical School, Auckland, New Zealand;
6Department of Genetics, Faculty of Veterinary Medicine, University of Lie `ge (B43), 4000-Lie `ge, Belgium;
7Livestock Improvement Corp., Hamilton, New Zealand

Tóm tắt

We recently mapped a quantitative trait locus (QTL) with a major effect on milk composition—particularly fat content—to the centromeric end of bovine chromosome 14. We subsequently exploited linkage disequilibrium to refine the map position of this QTL to a 3-cM chromosome interval bounded by microsatellite markers BULGE13and BULGE09. We herein report the positional candidate cloning of this QTL, involving (1) the construction of a BAC contig spanning the corresponding marker interval, (2) the demonstration that a very strong candidate gene, acylCoA:diacylglycerol acyltransferase (DGAT1), maps to that contig, and (3) the identification of a nonconservative K232A substitution in the DGAT1 gene with a major effect on milk fat content and other milk characteristics.[The sequence data described in this paper have been submitted to the GenBank data library under accession number AY065621.]

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