BRCA1 DNA REPAIR-ASSOCIATED PROTEIN; BRCA1

The university of Chicago Genetic Services Laboratories

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Description
BRCA1 plays critical roles in DNA repair, cell cycle checkpoint control, and maintenance of genomic stability. BRCA1 forms several distinct complexes through association with different adaptor proteins, and each complex forms in a mutually exclusive manner (Wang et al., 2009).


Cloning and Expression
Miki et al. (1994) identified cDNA sequences corresponding to the BRCA1 gene by positional cloning of the region on 17q21 implicated in familial breast-ovarian cancer syndrome (604370). The deduced 1,863-residue protein with zinc finger domains near the N terminus. A 7.8-kb mRNA transcript was identified in testes, thymus, breast and ovary. There appeared to be a complex pattern of alternative splicing.

Bennett et al. (1995) found that the mouse Brca1 gene shares 75% identity of the coding region with the human sequence at the nucleotide level, whereas the predicted amino acid identity was only 58%.