FANCD2 genome binding is nonrandom and is enriched at large transcriptionally active neural genes prone to copy number variation.

ABSTRACT: Fanconi anemia (FA) is a rare genetic disease characterized by congenital abnormalities and increased risk for bone marrow failure and cancer. Central nervous system defects, including acute and irreversible loss of neurological function and white matter lesions with calcifications, have become increasingly recognized among FA patients, and are collectively referred to as Fanconi Anemia Neurological Syndrome or FANS. The molecular etiology of FANS is poorly understood. In this study, we have used a functional integrative genomics approach to further define the function of the FANCD2 protein and FA pathway. Combined analysis of new and existing FANCD2 ChIP-seq datasets demonstrates that FANCD2 binds nonrandomly throughout the genome with binding enriched at transcription start sites and in

SUBMITTER: Blaize JL 

PROVIDER: S-EPMC11452531 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature