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Corrigendum Free access | 10.1172/JCI92946

Biallelic inactivation of REV7 is associated with Fanconi anemia

Dominique Bluteau, Julien Masliah-Planchon, Connor Clairmont, Alix Rousseau, Raphael Ceccaldi, Catherine Dubois d’Enghien, Olivier Bluteau, Wendy Cuccuini, Stéphanie Gachet, Régis Peffault de Latour, Thierry Leblanc, Gérard Socié, André Baruchel, Dominique Stoppa-Lyonnet, Alan D. D’Andrea, and Jean Soulier

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First published March 1, 2017 - More info

Published in Volume 127, Issue 3 on March 1, 2017
J Clin Invest. 2017;127(3):1117–1117. https://doi.org/10.1172/JCI92946.
Copyright © 2017, American Society for Clinical Investigation

First published March 1, 2017 - Version history

Related article:

Biallelic inactivation of REV7 is associated with Fanconi anemia
Dominique Bluteau, … , Alan D. D’Andrea, Jean Soulier
Dominique Bluteau, … , Alan D. D’Andrea, Jean Soulier
Categories: Brief Report Genetics Hematology

Biallelic inactivation of REV7 is associated with Fanconi anemia

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Abstract

Fanconi anemia (FA) is a recessive genetic disease characterized by congenital abnormalities, chromosome instability, progressive bone marrow failure (BMF), and a strong predisposition to cancer. Twenty FA genes have been identified, and the FANC proteins they encode cooperate in a common pathway that regulates DNA crosslink repair and replication fork stability. We identified a child with severe BMF who harbored biallelic inactivating mutations of the translesion DNA synthesis (TLS) gene REV7 (also known as MAD2L2), which encodes the mutant REV7 protein REV7-V85E. Patient-derived cells demonstrated an extended FA phenotype, which included increased chromosome breaks and G2/M accumulation upon exposure to DNA crosslinking agents, γH2AX and 53BP1 foci accumulation, and enhanced p53/p21 activation relative to cells derived from healthy patients. Expression of WT REV7 restored normal cellular and functional phenotypes in the patient’s cells, and CRISPR/Cas9 inactivation of REV7 in a non-FA human cell line produced an FA phenotype. Finally, silencing Rev7 in primary hematopoietic cells impaired progenitor function, suggesting that the DNA repair defect underlies the development of BMF in FA. Taken together, our genetic and functional analyses identified REV7 as a previously undescribed FA gene, which we term FANCV.

Authors

Dominique Bluteau, Julien Masliah-Planchon, Connor Clairmont, Alix Rousseau, Raphael Ceccaldi, Catherine Dubois d’Enghien, Olivier Bluteau, Wendy Cuccuini, Stéphanie Gachet, Régis Peffault de Latour, Thierry Leblanc, Gérard Socié, André Baruchel, Dominique Stoppa-Lyonnet, Alan D. D’Andrea, Jean Soulier

×

Original citation: J Clin Invest. 2016;126(9):3580–3584. https://doi.org/10.1172/JCI88010

Citation for this corrigendum: J Clin Invest. 2017;127(3):1117. https://doi.org/10.1172/JCI92946

The nomenclature for the REV7 mutation was incorrectly noted in two sentences in the second paragraph of Results and Discussion and in Figure 1H. The correct sentences and figure part are below.

Whole exome sequencing (WES) on genomic DNA from the EGF123 proband identified a homozygous REV7 variant, c.254T>A.

The c.254T>A REV7 is a variant based on a survey of publicly accessible variant databases.

In addition, the fourth sentence of the Abstract was incorrect. The correct sentence is below.

Patient-derived cells demonstrated an extended FA phenotype, which included increased chromosome breaks and G2/M accumulation upon exposure to DNA crosslinking agents, γH2AX and 53BP1 foci accumulation, and enhanced p53/p21 activation relative to cells derived from healthy subjects.

The authors regret the errors.

Footnotes

See the related article at Biallelic inactivation of REV7 is associated with Fanconi anemia.

Version history
  • Version 1 (March 1, 2017): Print issue publication

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