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Nat Genet. 2005 Sep;37(9):934-5. Epub 2005 Aug 21.

The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.

Author information

1
Department of Clinical Genetics and Human Genetics, VU University Medical Center, Van der Boechorststraat 7, NL-1081 BT Amsterdam, The Netherlands.

Abstract

The protein predicted to be defective in individuals with Fanconi anemia complementation group J (FA-J), FANCJ, is a missing component in the Fanconi anemia pathway of genome maintenance. Here we identify pathogenic mutations in eight individuals with FA-J in the gene encoding the DEAH-box DNA helicase BRIP1, also called FANCJ. This finding is compelling evidence that the Fanconi anemia pathway functions through a direct physical interaction with DNA.

PMID:
16116423
DOI:
10.1038/ng1625
[Indexed for MEDLINE]

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