Growth Hormone Receptor (GHR) gene and its applicationsin livestock: A review

The Growth Hormone Receptor (GHR) gene provides instructions for making a protein called the growth hormone receptor. The GHR mediates biological actions of growth hormone on target cells by transducing the growth hormone (GH) signal across the cell membrane and inducing transcription of many genes, including insulin-like growth factor-1 (IGF1). The gene coding for bovine GHR gene consists of nine exons. In exon 8 of the bovine GHR gene, T/A nucleotide variation results in to change in tyrosine from phenylalanine in the transmembrane domain of the GHR protein, has been reported to be associated with a major effect on milk yield in cows. GHR (growth hormone receptor) gene has been shown to harbor a causal mutation of a QTL influencing milk yield and composition GHR gene is a polymorphic gene and the polymorphisms are related to different economic traits of different species. The GHR gene influences physical traits and helps to selection of animals. The lengths of the variable TG-repeats in the P1 promoter of the bovine GHR gene are associated with growth rates in young Angus cattle. Due to various functions of GHR are viewed as promising candidate markers for selection purposes in cattle. Thus GHR gene could be a candidate gene for application in marker assisted selection (MAS).

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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

Genetics ◽

10.1093/genetics/163.1.253 ◽

2003 ◽

Vol 163 (1) ◽

pp. 253-266 ◽

Cited By ~ 6

Author(s):

Sarah Blott ◽

Jong-Joo Kim ◽

Sirja Moisio ◽

Anne Schmidt-Küntzel ◽

Anne Cornet ◽

...

Keyword(s):

Growth Hormone ◽

Milk Yield ◽

Hormone Receptor ◽

Growth Hormone Receptor ◽

Transmembrane Domain ◽

Receptor Gene ◽

Major Effect ◽

Chromosome 20 ◽

Growth Hormone Receptor Gene ◽

Trait Locus

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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No correlation of growth hormone receptor gene mutation P561T with body height

Acta Endocrinologica ◽

10.1530/eje.0.1340560 ◽

1996 ◽

Vol 134 (5) ◽

pp. 560-562 ◽

Cited By ~ 24

Author(s):

Seiko Chujo ◽

Hidesuke Kaji ◽

Yutaka Takahashi ◽

Yasuhiko Okimura ◽

Hiromi Abe ◽

...

Keyword(s):

Growth Hormone ◽

Gene Mutation ◽

Hormone Receptor ◽

Growth Hormone Receptor ◽

Receptor Gene ◽

Body Height ◽

Cytoplasmic Domain ◽

The Body ◽

Gene Encoding ◽

Ghr Gene

Chujo S. Kaji H, Takahashi Y. Okimura Y, Abe H, Chihara K. No correlation of growth hormone receptor gene mutation P561T with body height. Eur J Endocrinol 1996;134:560–2. ISSN 0804–4643 Analysis of the growth hormone receptor (GHR) gene in GH insensitivity syndrome revealed various mutations, mainly in the gene encoding the extracellular domain of GHR. On the other hand, the mutation of the gene encoding the cytoplasmic domain of GHR was not found. We have reported, in the cytoplasmic domain of a GHR gene, mutation P561T in a patient with Noonan syndrome who showed a blunted insulin-like growth factor I (IGF-I) response to an acute injection of GH. However, her mother possessing the same mutation had no growth failure. To clarify the significance of the GHR gene mutation P561T, 96 volunteers (41 males aged 21–80 years; 55 females, aged 20–80 years) were tested for the presence of this mutation. By the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method, three of the 41 males and 11 of the 55 females examined revealed heterozygous missense mutation P561T, The body height (cm) was 168 ±5.3 (mean ± sd) in three males with the mutation and 164.1 ± 5.8 in 38 males without the mutation. The difference between them was not statistically significant. The body height in 11 females with the mutation was 152.6 ± 5.4, which did not differ significantly from 151.3 ± 6.2 in 44 females without the mutation. These findings suggest that the heterozygous missense mutation P561T in the cytoplasmic domain of GHR does not play a significant role in determining the final body height. Hidesuke Kaji, Third Division, Department of Medicine, Kobe University School of Medicine. 7-5-1. Kusunokicho, Chuo-ku, Kobe 650, Japan

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