Characterisation of a functional intronic polymorphism in the human growth hormone (GH1) gene.

Human Genomics
David S MillarDavid N Cooper

Abstract

The +1169A allele of the A/T single nucleotide polymorphism (SNP; rs2665802), located within intron 4 of the human growth hormone 1 ( GH1 ) gene, has been associated with reduced levels of circulating GH and insulin-like growth factor 1, a reduced risk of colorectal cancer and a predisposition to osteoporosis. Whether this intronic SNP is itself the functional polymorphism responsible for exerting a direct effect on GH1 gene expression, however, or whether it is instead in linkage disequilibrium with the functional SNP, has been an open question. The evolutionary conservation of the +1169T allele (and the surrounding intronic sequence) in the bovine genome, as well as in primate genomes, is, however, suggestive of its functionality. Although a potential alternative splice site spans the location of the +1169 SNP, polymerase chain reaction-based assays failed to yield any evidence for alternative splicing associated with either allele. To determine whether the +1169 SNP, in different allelic combinations with SNPs at -278 (G/T), -57 (T/G) and +2103 (C/T), exerts a direct effect on gene expression and/or GH secretion, we performed a series of transfections of various GH1 haplotype-expressing constructs into rat GC (somatotroph) c...Continue Reading

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Citations

Jan 10, 2014·International Journal of Molecular Sciences·Yang ZhangGuohong Chen
Jan 28, 2014·Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine·Jing ShiShuang Cai
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Feb 24, 2021·Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology·Li TangYue Wu

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Datasets Mentioned

BETA
AC127029

Methods Mentioned

BETA
PCR
transfections
transfection
PCRs
ELISA

Software Mentioned

Alternative Splice Site Predictor ( ASSP )
TRANSFAC
Alternative Splice Site Predictor

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