The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia

Autor:	Helmut Hanenberg, Orna Levran, Kornelia Neveling, Rashida Henry, Eunike Velleuer, Jurg Ott, Kelly Milton, Reinhard Kalb, Sat Dev Batish, Sandra Barral, Paula Río, Claire L. Attwooll, Detlev Schindler, Arleen D. Auerbach, John H.J. Petrini
Rok vydání:	2005
Předmět:	congenital hereditary and neonatal diseases and abnormalities Fanconi anemia complementation group C BRIP1 nutritional and metabolic diseases Biology medicine.disease FANCA FANCB FANCF Fanconi anemia FANCG hemic and lymphatic diseases FANCD2 Genetics medicine Cancer research
Zdroj:	Nature Genetics. 37:931-933
ISSN:	1546-1718 1061-4036
DOI:	10.1038/ng1624
Popis:	Seven Fanconi anemia-associated proteins (FANCA, FANCB, FANCC, FANCE, FANCF, FANCG and FANCL) form a nuclear Fanconi anemia core complex that activates the monoubiquitination of FANCD2, targeting FANCD2 to BRCA1-containing nuclear foci. Cells from individuals with Fanconi anemia of complementation groups D1 and J (FA-D1 and FA-J) have normal FANCD2 ubiquitination. Using genetic mapping, mutation identification and western-blot data, we identify the defective protein in FA-J cells as BRIP1 (also called BACH1), a DNA helicase that is a binding partner of the breast cancer tumor suppressor BRCA1.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::a0bd1c6b1267c6ca0213ee60a28ea81a https://doi.org/10.1038/ng1624 Zobrazit plný text záznamu Plný text ve formátu PDF