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

Sara Parrella; Anna Aspesi; Paola Quarello; Emanuela Garelli; Elisa Pavesi; Adriana Carando; Margherita Nardi; Steven R. Ellis; Ugo Ramenghi; Irma Dianzani

doi:10.1002/pbc.24944

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

Sara Parrella, Anna Aspesi, Paola Quarello, Emanuela Garelli, Elisa Pavesi, Adriana Carando, Margherita Nardi, Steven R. Ellis, Ugo Ramenghi, Irma Dianzani

Dipartimento di Scienze della Salute

Risultato della ricerca: Contributo su rivista › Articolo in rivista › peer review

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. Pediatr Blood Cancer 2014;61:1319-1321.

Lingua originale	Inglese
pagine (da-a)	1319-1321
Numero di pagine	3
Rivista	Pediatric Blood and Cancer
Volume	61
Numero di pubblicazione	7
DOI	https://doi.org/10.1002/pbc.24944
Stato di pubblicazione	Pubblicato - lug 2014

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10.1002/pbc.24944

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title = "Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype",

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. Pediatr Blood Cancer 2014;61:1319-1321.",

keywords = "Anemia, Diamond-Blackfan, Erythropoiesis, Gata-1, Ribosomal protein",

author = "Sara Parrella and Anna Aspesi and Paola Quarello and Emanuela Garelli and Elisa Pavesi and Adriana Carando and Margherita Nardi and Ellis, {Steven R.} and Ugo Ramenghi and Irma Dianzani",

year = "2014",

month = jul,

doi = "10.1002/pbc.24944",

language = "English",

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T1 - Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype

AU - Parrella, Sara

AU - Aspesi, Anna

AU - Quarello, Paola

AU - Garelli, Emanuela

AU - Pavesi, Elisa

AU - Carando, Adriana

AU - Nardi, Margherita

AU - Ellis, Steven R.

AU - Ramenghi, Ugo

AU - Dianzani, Irma

PY - 2014/7

Y1 - 2014/7

N2 - 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. Pediatr Blood Cancer 2014;61:1319-1321.

AB - 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. Pediatr Blood Cancer 2014;61:1319-1321.

KW - Anemia

KW - Diamond-Blackfan

KW - Erythropoiesis

KW - Gata-1

KW - Ribosomal protein

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U2 - 10.1002/pbc.24944

DO - 10.1002/pbc.24944

M3 - Article

SN - 1545-5009

VL - 61

SP - 1319

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JO - Pediatric Blood and Cancer

JF - Pediatric Blood and Cancer

IS - 7

ER -

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

Abstract

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