Pro239Ser: a novel recessive mutation of the Pit-1 gene in seven Middle Eastern children with growth hormone, prolactin, and thyrotropin deficiency.
J Clin Endocrinol Metab
; 83(6): 2079-83, 1998 Jun.
Article
em En
| MEDLINE
| ID: mdl-9626142
ABSTRACT
Pit-1, a member of the POU-homeo domain protein family, is one of the transcription factors responsible for anterior pituitary development and pituitary-specific gene expression. Here, we describe seven children with GH, PRL, and TSH deficiency from three, reportedly unrelated, Middle Eastern families, harboring a newly recognized Pro- > Ser recessive mutation in codon 239 of the Pit-1 gene. The mutated residue is located at the beginning of the second alpha-helix of the POU-homeodomain and is strictly conserved among all POU proteins. The Pro239Ser mutant binds DNA normally but is unable to stimulate transcription.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Prolactina
/
Fatores de Transcrição
/
Tireotropina
/
Mutação Puntual
/
Hormônio do Crescimento Humano
/
Proteínas de Ligação a DNA
Limite:
Female
/
Humans
/
Infant
/
Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
J Clin Endocrinol Metab
Ano de publicação:
1998
Tipo de documento:
Article
País de afiliação:
Bélgica