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

Department of Health Sciences

Research output: Contribution to journal › Article › 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.

Original language	English
Pages (from-to)	1319-1321
Number of pages	3
Journal	Pediatric Blood and Cancer
Volume	61
Issue number	7
DOIs	https://doi.org/10.1002/pbc.24944
Publication status	Published - Jul 2014

Keywords

Anemia
Diamond-Blackfan
Erythropoiesis
Gata-1
Ribosomal protein

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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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

UR - http://www.scopus.com/inward/record.url?scp=84899666581&partnerID=8YFLogxK

U2 - 10.1002/pbc.24944

DO - 10.1002/pbc.24944

M3 - Article

SN - 1545-5009

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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

Keywords

UN SDGs

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