Genetics, Vol. 163, 253-266, January 2003, Copyright © 2003

Molecular Dissection of a Quantitative Trait Locus: A Phenylalanine-to-Tyrosine Substitution in the Transmembrane Domain of the Bovine Growth Hormone Receptor Is Associated With a Major Effect on Milk Yield and Composition

Sarah Blotta, Jong-Joo Kima, Sirja Moisiob, Anne Schmidt-Küntzela, Anne Corneta, Paulette Berzia, Nadine Cambisanoa, Christine Fordd, Bernard Grisarta, Dave Johnsonc, Latifa Karima, Patricia Simona, Russell Snelld, Richard Spelmanc, Jerry Wongd, Johanna Vilkkib, Michel Georgesa, Frédéric Farnira, and Wouter Coppietersa
a Department of Genetics, Faculty of Veterinary Medicine, University of Liège, 4000 Liège, Belgium,
b Animal Production Research, Agricultural Research Centre MTT, 31600 Jokioinen, Finland,
c Livestock Improvement Corporation, Hamilton, New Zealand
d Vialactia Biosciences (NZ) Limited, Clinical Building, University of Auckland Medical School, Auckland, New Zealand

Corresponding author: Michel Georges, Faculty of Veterinary Medicine, University of Liège (B43), 20 Bd. de Colonster, 4000-Liège, Belgium., michel.georges{at}ulg.ac.be (E-mail)

Communicating editor: C. HALEY

We herein report on our efforts to improve the mapping resolution of a QTL with major effect on milk yield and composition that was previously mapped to bovine chromosome 20. By using a denser chromosome 20 marker map and by exploiting linkage disequilibrium using two distinct approaches, we provide strong evidence that a chromosome segment including the gene coding for the growth hormone receptor accounts for at least part of the chromosome 20 QTL effect. By sequencing individuals with known QTL genotype, we identify an F to Y substitution in the transmembrane domain of the growth hormone receptor gene that is associated with a strong effect on milk yield and composition in the general population.





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