Fanconi anemia is associated with a defect in the BRCA2 partner PALB2
Top Cited Papers
- 31 December 2006
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 39 (2), 159-161
- https://doi.org/10.1038/ng1942
Abstract
The Fanconi anemia and BRCA networks are considered interconnected, as BRCA2 gene defects have been discovered in individuals with Fanconi anemia subtype D1. Here we show that a defect in the BRCA2-interacting protein PALB2 is associated with Fanconi anemia in an individual with a new subtype. PALB2-deficient cells showed hypersensitivity to cross-linking agents and lacked chromatin-bound BRCA2; these defects were corrected upon ectopic expression of PALB2 or by spontaneous reversion.Keywords
This publication has 11 references indexed in Scilit:
- Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2Journal of Medical Genetics, 2006
- Control of BRCA2 Cellular and Clinical Functions by a Nuclear Partner, PALB2Molecular Cell, 2006
- Molecular pathogenesis of Fanconi anemia: recent progressBlood, 2006
- The DNA helicase BRIP1 is defective in Fanconi anemia complementation group JNature Genetics, 2005
- Updated Classification of Hemangiomas and Other Vascular AnomaliesLymphatic Research and Biology, 2003
- Biallelic Inactivation of BRCA2 in Fanconi AnemiaScience, 2002
- Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplificationNucleic Acids Research, 2002
- Alu repeats and human genomic diversityNature Reviews Genetics, 2002
- Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicismNature Genetics, 1999
- The infant with a vascular tumorSeminars in Perinatology, 1999