Dysfunctional DNA repair pathway via defective FANCD2 gene engenders multifarious exomic and transcriptomic effects in Fanconi anemia.

ABSTRACT:

Background

Fanconi anemia (FA) affects only one in 130,000 births, but has severe and diverse clinical consequences. It has been theorized that defects in the FA DNA cross-link repair complex lead to a spectrum of variants that are responsible for those diverse clinical phenotypes.

Methods

Using NextGen sequencing, we show that a clinically derived FA cell line had accumulated numerous genetic variants, including high-impact mutations, such as deletion of start codons, introduction of premature stop codons, missense mutations, and INDELs.

Results

About 65% of SNPs and 55% of INDELs were found to be commonly present in both the FA dysfunctional and retrovirally corrected cell lines, showing their common origin. The number of INDELs, but not SNPs, is decreased in FANCD2

SUBMITTER: Velmurugan KR 

PROVIDER: S-EPMC6305641 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature