GT repeat polymorphism in the 5′ flanking region of the human growth hormone receptor gene

作者: S. Hadjiyannakis , H. Zheng , G.N. Hendy , C.G. Goodyer

DOI: 10.1006/MCPR.2001.0366

关键词:

摘要: Abstract A polymorphic GT dinucleotide repeat sequence has been identified in the 5′ flanking region of human growth hormone receptor ( hGHR ) gene on chromosome 5p13.1-p12, within promoter V9 5′UTR exon. Thirteen alleles have 50 non-related individuals, with an observed heterozygosity 52%. The major allele contains 24 repeats, although a range 19–32 repeats observed. Codominant segregation was demonstrated five two-generation and two three-generation families. This marker may be useful analysing role pre- postnatal disorders.

参考文章(26)
C S Hale, W O Herring, H Shibuya, M C Lucy, D B Lubahn, D H Keisler, G S Johnson, Decreased growth in Angus steers with a short TG-microsatellite allele in the P1 promoter of the growth hormone receptor gene. Journal of Animal Science. ,vol. 78, pp. 2099- 2104 ,(2000) , 10.2527/2000.7882099X
D. Heap, M. C. Lucy, R. J. Collier, C. K. Boyd, W. C. Warren, Rapid communication: nucleotide sequence of the promoter and first exon of the somatotropin receptor gene in cattle. Journal of Animal Science. ,vol. 73, pp. 1529- 1529 ,(1995) , 10.2527/1995.7351529X
U. Francke, S. P. A. Toledo, J. Argente, A. Rosenbloom, L. Perez-Jurado, J. Guevara-Aguirre, R. Gracia, M. A. Berg, S. Chernausek, M. Hopp, Diverse growth hormone receptor gene mutations in Laron syndrome. American Journal of Human Genetics. ,vol. 52, pp. 998- 1005 ,(1993)
John V. O'Mahoney, Malcolm R. Brandon, Timothy E. Adams, Identification of a liver-specific promoter for the ovine growth hormone receptor Molecular and Cellular Endocrinology. ,vol. 101, pp. 129- 139 ,(1994) , 10.1016/0303-7207(94)90227-5
Roman I. Pekhletsky, Boris K. Chernov, Peter M. Rubtsov, Variants of the 5'-untranslated sequence of human growth hormone receptor mRNA. Molecular and Cellular Endocrinology. ,vol. 90, pp. 103- 109 ,(1992) , 10.1016/0303-7207(92)90107-H
Jacek Majewski, Jurg Ott, GT repeats are associated with recombination on human chromosome 22. Genome Research. ,vol. 10, pp. 1108- 1114 ,(2000) , 10.1101/GR.10.8.1108
Serge Amselem, Philippe Duquesnoy, Olivier Attree, Giuseppe Novelli, Souad Bousnina, Marie-Catherine Postel-Vinay, Michel Goossens, Laron Dwarfism and Mutations of the Growth Hormone–Receptor Gene New England Journal of Medicine. ,vol. 321, pp. 989- 995 ,(1989) , 10.1056/NEJM198910123211501
Shohei Shimajiri, Nobuyuki Arima, Akihide Tanimoto, Yoshitake Murata, Tetsuo Hamada, Ke-Yong Wang, Yasuyuki Sasaguri, Shortened microsatellite d(CA)21 sequence down-regulates promoter activity of matrix metalloproteinase 9 gene. FEBS Letters. ,vol. 455, pp. 70- 74 ,(1999) , 10.1016/S0014-5793(99)00863-7
Hiroshi Hamada, Takeo Kakunaga, Potential Z-DNA forming sequences are highly dispersed in the human genome Nature. ,vol. 298, pp. 396- 398 ,(1982) , 10.1038/298396A0