Minimum CAG repeat in the human calmodulin-1 gene 5' untranslated region is required for full expression.
Biochim Biophys Acta
; 1398(3): 315-20, 1998 Jul 09.
Article
em En
| MEDLINE
| ID: mdl-9655925
ABSTRACT
The human calmodulin-1 gene (hCALM1) contains a (CAG)7 repeat in its 5'-untranslated region (5'-UTR). We found this repeat to be stable and nonpolymorphic in the human population. To determine whether the repeat region affects hCALM1 expression and whether repeat expansions to numbers known to be associated with disease in other genes may alter expression, we tested luciferase reporter genes driven by the hCALM1 promoter and 5'-UTR containing 0, 7 (wild-type), 20, and 45 CAG repeats in human NT2/D1 teratoma cells. Interestingly, the repeat deletion, (CAG)0, decreased expression by 45%, while repeat expansions to (CAG)20 and (CAG)45, or the insertion of a scrambled (C,A,G)7 sequence did not alter gene expression. These data indicate (1) that the endogenous repeat element is required for full expression of hCALM1, and (2) that some triplet repeat expansions in the 5'-UTR of protein-coding genes may be well tolerated and even optimize gene expression.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Calmodulina
/
Expressão Gênica
/
Repetições de Trinucleotídeos
Limite:
Animals
/
Humans
Idioma:
En
Revista:
Biochim Biophys Acta
Ano de publicação:
1998
Tipo de documento:
Article
País de afiliação:
Estados Unidos