Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype.
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.
Department of Health Sciences, University of Eastern Piedmont, Novara, Italy.
Sara
S
Parrella
Anna
A
Aspesi
Paola
P
Quarello
Emanuela
E
Garelli
Elisa
E
Pavesi
Adriana
A
Carando
Margherita
M
Nardi
Steven R
SR
Ellis
Ugo
U
Ramenghi
Irma
I
Dianzani
D029503:Anemia, Diamond-Blackfan / Q000235:genetics*; D018387:Codon, Initiator / Q000235:genetics*; D005260:Female; D050982:GATA1 Transcription Factor / Q000235:genetics*; D006801:Humans; D008297:Male; D017354:Point Mutation; D020033:Protein Isoforms / Q000235:genetics
D018387:Codon, Initiator; D050982:GATA1 Transcription Factor; C494688:GATA1 protein, human; D020033:Protein Isoforms
Diamond-Blackfan; Gata-1; anemia; erythropoiesis; ribosomal protein