Reduced levels of prostaglandin I₂ synthase: a distinctive feature of the cancer-free trichothiodystrophy.

ABSTRACT: The cancer-free photosensitive trichothiodystrophy (PS-TTD) and the cancer-prone xeroderma pigmentosum (XP) are rare monogenic disorders that can arise from mutations in the same genes, namely ERCC2/XPD or ERCC3/XPB Both XPD and XPB proteins belong to the 10-subunit complex transcription factor IIH (TFIIH) that plays a key role in transcription and nucleotide excision repair, the DNA repair pathway devoted to the removal of ultraviolet-induced DNA lesions. Compelling evidence suggests that mutations affecting the DNA repair activity of TFIIH are responsible for the pathological features of XP, whereas those also impairing transcription give rise to TTD. By adopting a relatives-based whole transcriptome sequencing approach followed by specific gene expression profiling in prim

SUBMITTER: Lombardi A 

PROVIDER: S-EPMC8255998 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature