Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype.
Pediatr Blood Cancer
; 61(7): 1319-21, 2014 Jul.
Article
en En
| MEDLINE
| ID: mdl-24453067
Mutations in the hematopoietic transcription factor GATA-1 alter the proliferation/differentiation of hemopoietic progenitors. Mutations in exon 2 interfere with the synthesis of the full-length isoform of GATA-1 and lead to the production of a shortened isoform, GATA-1s. These mutations have been found in patients with Diamond-Blackfan anemia (DBA), a congenital erythroid aplasia typically caused by mutations in genes encoding ribosomal proteins. We sequenced GATA-1 in 23 patients that were negative for mutations in the most frequently mutated DBA genes. One patient showed a c.2T > C mutation in the initiation codon leading to the loss of the full-length GATA-1 isoform.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Mutación Puntual
/
Codón Iniciador
/
Anemia de Diamond-Blackfan
/
Factor de Transcripción GATA1
Límite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Pediatr Blood Cancer
Asunto de la revista:
HEMATOLOGIA
/
NEOPLASIAS
/
PEDIATRIA
Año:
2014
Tipo del documento:
Article
País de afiliación:
Italia
Pais de publicación:
Estados Unidos