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Structure, function, and polymorphism of the growth hormone receptor gene in humans and in animals

100%

Maj A. , Zwierzchowski L.

Biotechnologia

2004

nr 1

85-107

Growth hormone (GH) plays a central role in the regulation of growth and metabolism in animals and in humans. At the tissue levels, the pleiotropic actions of GH are mediated through their cell-surface receptor - GHR. The GHR belongs to the hematopoietic receptor superfamily. In mammals, GHR is the product of a single gene. In all studied, species GHR gene characterizes a complex structure of exon 1, coding for the 5'-untraslated region (5'-UTR). Several transcripts from the GHR gene were found differing by the presence of various length 5'-UTRs, resulting from the alternative splicing of the exon 1 fragments to a common splice site located 11-bp in the human and in bovine GHR gene exon 2. Numerous nucleotide sequence polymorphisms were found in the human GHR gene; some of them, those associated to GH resistance, were identified as the causative mutations of growth retardation, e.g. Laron's syndrome. In farm animals, genes coding for GH and GHR are obvious candidates for quantitative trait markers. Several polymorphic sites have been identified in the bovine GHR gene. At least in two cases, an association was reported between GHR gene polymorphism and performance traits. Detection of additional polymorphisms is necessary to help investigating the role of GHR variation in the production traits of the cattle. This article includes a review of literature on structure, function and polymorphism within GHR gene. Also, there are mentioned new data concerning the polymorphism recently identified by authors in the bovine GHR gene.

Molecular evolution of coding and non-coding sequences of the growth hormone receptor (GHR) gene in the family Bovidae

100%

Maj A. , Zwierzchowski L.

nr 1-2

31-36

The GHR gene exon 1A and exon 4 with fragments of its flanking introns were sequenced in twelve Bovidae species and the obtained sequences were aligned and analysed by the ClustalW method. In coding exon 4 only three interspecies differences were found, one of which had an effect on the amino-acid sequence ? leucine 152 proline. The average mutation frequency in non-coding exon 1A was 10.5 per 100 bp, and was 4.6-fold higher than that in coding exon 4 (2.3 per 100 bp). The mutation frequency in intron sequences was similar to that in non-coding exon 1A (8.9 vs 10.5/100 bp). For non-coding exon 1A, the mutation levels were lower within than between the subfamilies Bovinae and Caprinae. Exon 4 was 100% identical within the genera Ovis, Capra, Bison, and Bos and 97.7% identical for Ovis moschatus, Ammotragus lervia and Bovinae species. The identity level of non-coding exon 1A of the GHR gene was 93.8% between species belonging to Bovinae and Caprinae. The average mutation rate was 0.2222/100 bp/MY and 0.0513/100 bp/MY for the Bovidae GHR gene exons 1A and 4, respectively. Thus, the GHR gene is well conserved in the Bovidae family. Also, in this study some novel intraspecies polymorphisms were found for cattle and sheep.