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. 2003 Jan;163(1):253–266. doi: 10.1093/genetics/163.1.253

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 Blott 1, Jong-Joo Kim 1, Sirja Moisio 1, Anne Schmidt-Küntzel 1, Anne Cornet 1, Paulette Berzi 1, Nadine Cambisano 1, Christine Ford 1, Bernard Grisart 1, Dave Johnson 1, Latifa Karim 1, Patricia Simon 1, Russell Snell 1, Richard Spelman 1, Jerry Wong 1, Johanna Vilkki 1, Michel Georges 1, Frédéric Farnir 1, Wouter Coppieters 1
PMCID: PMC1462408  PMID: 12586713

Abstract

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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Selected References

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