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.

Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype.

QUARELLO, Paola;GARELLI, Emanuela;CARANDO, Adriana;RAMENGHI, Ugo;
2014-01-01

Abstract

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.
2014
61
7
1319
1321
Diamond-Blackfan; Gata-1; anemia; erythropoiesis; ribosomal protein
Parrella S; Aspesi A; Quarello P; Garelli E; Pavesi E; Carando A; Nardi M; Ellis SR; Ramenghi U; Dianzani I.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/149749
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