Direct Sequencing of the Promoter Region of Growth Hormone Gene from Artiodactyla

Chikuni, Koichi; Tabata, Toshiyuki; Monma, Michiko; Saito, Masayoshi

doi:10.2508/chikusan.65.120

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Gh (Gh1) Gene Structure and Expression1

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1998

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“…In principle, the availability of a wide variety of GH gene promoter regions from diverse vertebrate species [e.g. goat (Kioka et al 1989, mouse (Das et al 1996, deer, buffalo (Chikuni et al 1994), chicken (Tanaka et al 1992), sheep, tilapia and pig (unpublished but available through GenBank, accession numbers AF002110, U58113 and Y11732)] should allow both "phylogenetic footprinting" to identify conserved regions and the study of the evolutionary emergence of these cis-acting motifs.…”

Section: Gh (Gh1) Gene Structure and Expressionmentioning

confidence: 99%

The molecular genetics of growth hormone deficiency

1998

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Although most cases of short stature associated with growth hormone (GH) deficiency are sporadic and idiopathic, some 5-30% have an affected first degree relative consistent with a genetic aetiology for the condition. Several different types of mutational lesion in the pituitary-expressed growth hormone (GH1) gene have been described in affected individuals. This review focuses primarily on the GH1 mutational spectrum and its unusual features, discusses potential mechanisms of mutagenesis and pathogenesis, and examines the correlation between mutant genotype and clinical phenotype. The characterization of pathological lesions in several other pituitary-expressed genes that are epistatic to GH1 (POU1F1, PROP1 and GHRHR) has identified additional causes of GH deficiency, the molecular genetics of which are also explored.

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Section: Gh (Gh1) Gene Structure and Expressionmentioning

confidence: 99%