Open AccessMolecular 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
Author(s) -
Sarah C. Blott,
Jong-Joo Kim,
Sirja Moisio,
Anne SchmidtKüntzel,
A Cornet,
Paulette Berzi,
Nadine Cambisano,
Christine A. Ford,
Bernard Grisart,
D. L. Johnson,
Latifa Karim,
Patricia Simon,
Russell G. Snell,
Richard Spelman,
Jerry Wong,
Johanna Vilkki,
Michel Georges,
Frédéric Farnir,
Wouter Coppieters
Publication year - 2003
Publication title -
genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.792
H-Index - 246
eISSN - 1943-2631
pISSN - 0016-6731
DOI - 10.1093/genetics/163.1.253
Subject(s) - biology , quantitative trait locus , genetics , linkage disequilibrium , transmembrane domain , locus (genetics) , chromosome , population , gene , genotype , haplotype , demography , sociology
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.