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2005 | 46 | 4 |

Tytuł artykułu

Single nucleotide polymorphisms in exon 10 of the chinchilla growth hormone receptor [GHR] gene

Warianty tytułu

Języki publikacji

EN

Abstrakty

EN
The aim of this study was to detect SNPs in exon 10 of the chinchilla growth hormone receptor gene (GHR) by comparative sequencing. Sixty females of the same breed (Standard) were analysed. Four new SNPs were identified, which cause 3 amino acid substitutions in the intracellular domain of the receptor: G/C at position 135 bp (in relation to the total sequence of exon 10) (gln/his), CAG/AAA at 352 bp and 354 bp (gln/lys), and C/A at 641 bp (thr/asn).

Słowa kluczowe

Wydawca

-

Rocznik

Tom

46

Numer

4

Opis fizyczny

p.403-406,fig.,ref.

Twórcy

autor
  • Agricultural University in Szczecin, Judyma 6, 71-466 Szczecin, Poland
autor
autor
autor

Bibliografia

  • Colosi P, Wong K, Leong SR, Wood WI, 1993. Mutational analysis of the intracellular domain of the human growth hormone receptor. J Biol Chem 17: 12617-12623.
  • Edmondson SR, Thumiger SP, Werther GA, Wraight CJ, 2003. Epidermal homeostasis: the role of growth hormone and insulin-growth like factor systems. Endocr Rev 24: 737-764.
  • Feng XP, Kuhnlein U, Fairfull RW, Aggrey SE, Yao J, Zadworny D, 1998. A genetic marker in growth hormone receptor gene associated with body weight in chickens. J Hered 89: 355-359.
  • Freeth JS, Ayling RM, Whatmore AJ, Towner P, Price DA, Norman MR, Clayton PE, 1997. Human skin fibroblasts as a model of growth hormone (GH) action in GH receptor-positive Laron's syndrome. Endocrinology 138: 55-61.
  • Gastier JM, Berg MA, Vesterhus P, Reiter EO, Francke U, 1999. Diverse deletion in growth hormone receptor gene cause growth hormone insensi- tivity syndrome. Hum Mutat 16: 323-333.
  • Ge W, Davis ME, Hines HC, Irvin KM, 2000. Rapid communication: Single nucleotide polymorphism detected in exon 10 of the bovine growth hormone receptor gene. J Anim Sci 78: 2229-2230.
  • Ge W, Davis ME, Hines HC, Irvin KM, Simmen RCM, 2003. Association of single nucleotide polymorphisms in the growth hormone and growth hormone receptor gene with blood serum insulin-like growth factor I concentration and growth traits in Angus cattle. J Anim Sci 81: 641-648.
  • Godowski PJ, Leung DW, Meacham LR, Galgani JP, Hellmiss R, Keret R et al. 1989. Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism. Proc Natl Acad Sci of USA 86: 8083-8087.
  • Goujon L, Allevato G, Simonin G, Paquereau L, Le cam A, Clark J et al. 1994. Cytoplasmic sequences of the growth hormone receptor necessary for signal transduction. Proc Natl Acad Sci of USA 91: 957-961.
  • Herrington J, Carter-Su Ch, 2001. Signaling pathways activated by the growth hormone receptor. Trends Endocrinol Metab 12: 252-257.
  • Kou K, Lajara R, Rotwein P, 1993. Amino acid substitution in the intracellular part of the growth hormone receptor in a patient with the Laron Syndrome. J Clin Endocrinol Metab 76: 54-59.
  • Lau J, Leung FC, 2002. Detection of a single nucleotide polymorphism in exon 10 of the chicken growth hormone receptor gene. 7th World Congress on Genetics Applied to Livestock Production, Montpellier, France, August 19-23, Abstract 22-27.
  • Liao Z, Zhang X, Jing N, Zhu S, 2003. Functional expression of guinea pig growth hormone receptor and its mutant in mammalian cells. Acta Biochim Biophys Sin 35: 403-408.
  • Moffat JG, Edens A, Talamantes F, 1999. Structure and expression of the mouse growth hormone receptor/growth hormone binding protein. J Mol Endocrinol 23: 33-44.
  • Rosenfeld R, Rosenbloom AL, Guevarra-Aguirre J, 1994. Growth hormone (GH) insensitivity due to primary GH receptor deficiency. Endocr Rev 15: 369-390.
  • Sanchez JE, Ferera E, Baumbach L, Cleveland WW, 1998. Growth hormone receptor mutations in children with idiopathic short stature. J Clin Endocrinol Metab 83: 4079-4083.
  • Schwartzbauer G, Menon RK, 1998. Regulation of growth hormone receptor gene expression. Mol Genet Metab 3: 243-253.
  • Sobrier ML, Dastost F, Duquesnoy P, Kandemir N, Yordam N, Goossens M, Amselem S, 1997. Nine novel growth hormone receptor gene mutations in patients with Laron Syndrome. J Clin Endocrinol Metab 82: 435-437.

Typ dokumentu

Bibliografia

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