Structure, function, and polymorphism of the growth hormone receptor gene in humans and in animals
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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.
Publication order reference
A. Maj, Instytut Genetyki i Hodowli Zwierz?t, Polska Akademia Nauk, Jastrz?biec, 05-552 Wlka Kosowska, Poland