title: 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.
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.
authors.affiliation: Department of Genetics, Faculty of Veterinary Medicine, University of Liège, 4000 Liège, Belgium.
authors.forename: Sarah
authors.initials: S
authors.lastname: Blott
authors.forename: Jong-Joo
authors.initials: JJ
authors.lastname: Kim
authors.forename: Sirja
authors.initials: S
authors.lastname: Moisio
authors.forename: Anne
authors.initials: A
authors.lastname: Schmidt-Küntzel
authors.forename: Anne
authors.initials: A
authors.lastname: Cornet
authors.forename: Paulette
authors.initials: P
authors.lastname: Berzi
authors.forename: Nadine
authors.initials: N
authors.lastname: Cambisano
authors.forename: Christine
authors.initials: C
authors.lastname: Ford
authors.forename: Bernard
authors.initials: B
authors.lastname: Grisart
authors.forename: Dave
authors.initials: D
authors.lastname: Johnson
authors.forename: Latifa
authors.initials: L
authors.lastname: Karim
authors.forename: Patricia
authors.initials: P
authors.lastname: Simon
authors.forename: Russell
authors.initials: R
authors.lastname: Snell
authors.forename: Richard
authors.initials: R
authors.lastname: Spelman
authors.forename: Jerry
authors.initials: J
authors.lastname: Wong
authors.forename: Johanna
authors.initials: J
authors.lastname: Vilkki
authors.forename: Michel
authors.initials: M
authors.lastname: Georges
authors.forename: Frédéric
authors.initials: F
authors.lastname: Farnir
authors.forename: Wouter
authors.initials: W
authors.lastname: Coppieters
mesh_terms: D019943:Amino Acid Substitution; D000818:Animals; D002417:Cattle; D002874:Chromosome Mapping; D006239:Haplotypes; D015810:Linkage Disequilibrium; D008126:Lod Score; D018895:Microsatellite Repeats; D008892:Milk / Q000737:chemistry / Q000378:metabolism*; D010649:Phenylalanine / Q000378:metabolism; D010802:Phylogeny; D011110:Polymorphism, Genetic; D040641:Quantitative Trait Loci; D011986:Receptors, Somatotropin / Q000235:genetics* / Q000378:metabolism; D014443:Tyrosine / Q000378:metabolism
chemical_list: D011986:Receptors, Somatotropin; D014443:Tyrosine; D010649:Phenylalanine