NIH R01 · 2024
Molecular Pathogenesis of Fanconi Anemia
Project Summary REV7/FANCV is a versatile DNA repair protein. It binds to REV3 in the Fanconi Anemia/BRCA pathway, and it binds to SHLD3 in the NHEJ repair pathway. REV7 has at least one additional seatbelt-binding partner, CHAMP1. CHAMP1 is a little-known but highly conserved zinc finger protein, first identified as a REV7 interactor. CHAMP1 localizes to chromosomes, recruits REV7 to spindles, and plays a role in kinetochore- microtubule interactions. Germline heterozygous mutations in CHAMP1 are associated with a rare syndromic form of intellectual disability and dysmorphic features in humans, with some cellular and clinical similarities to Fanconi Anemia, though the relevance of this…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.