Preliminary functional analysis of a novel mutation in GATA-4 gene in Chinese patients with congenital cardiac septal defects / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 277-281, 2009.
Artículo
en Chino
| WPRIM
| ID: wpr-287408
ABSTRACT
<p><b>OBJECTIVE</b>To perform the functional analysis of a novel H436Y mutation of GATA-4 gene identified in Han Chinese patients with congenital cardiac septal defects.</p><p><b>METHODS</b>Using bioinformatics to predict if the H436Y mutation in the GATA-4 gene affects its protein function. H436Y mutation in the GATA-4 gene was generated by Quick Change Lightning site-directed mutagenesis kit and verified by DNA sequencing. GATA-4-wt or GATA-4-mut DNA was cotransfected into Hela cells with DNA for the luciferase reporter gene atrial natriuretic factor (ANF), and luciferase activity was measured by an LKB luminometer 48 h after transient transfection.</p><p><b>RESULTS</b>Alignment of the GATA-4 amino acid sequence indicated that the histidine residue at position 436 was conserved, and H436Y mutation in the GATA-4 gene is expected to affect its protein function. The H436Y mutation significantly reduced the transcriptional activation of downstream reporter ANF when compared to wild-type GATA-4 (P<0.01).</p><p><b>CONCLUSION</b>The mutation c.1306C-->T of the GATA-4 gene impaired the activation of the downstream target, suggesting that the H436Y mutation in the C-terminal region of the GATA-4 gene might prevent its biological function.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Datos de Secuencia Molecular
/
Mutagénesis Sitio-Dirigida
/
Alineación de Secuencia
/
Análisis de Secuencia de ADN
/
Factor de Transcripción GATA4
/
Genética
/
Defectos de los Tabiques Cardíacos
Tipo de estudio:
Estudio pronóstico
Límite:
Adolescente
/
Adulto
/
Niño
/
Child, preschool
/
Femenino
/
Humanos
/
Lactante
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2009
Tipo del documento:
Artículo
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