Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair  

Oleh:

Xue, Zhang ; Horibata, Katsuyoshi ; Saijo, Masafumi

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Nature Genetics vol. 44 no. 05 (May 2012), page 593 - 597.

Ketersediaan

Perpustakaan FK Nomor Panggil: N12.K.2012.01 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

Lihat Detail Induk

Isi artikel

UV-sensitive syndrome (UVSS) is an autosomal recessive disorder characterized by photosensitivity and deficiency in transcription-coupled repair (TCR), a subpathway of nucleotide-excision repair that rapidly removes transcription-blocking DNA damage1. Cockayne syndrome is a related disorder with defective TCR and consists of two complementation groups, Cockayne syndrome (CS)-A and CS-B, which are caused by mutations in ERCC8 (CSA) and ERCC6 (CSB), respectively2. UVSS comprises three groups, UVSS/CS-A, UVSS/CS-B and UVSS-A, caused by mutations in ERCC8, ERCC6 and an unidentified gene, respectively3, 4, 5, 6. Here, we report the cloning of the gene mutated in UVSS-A by microcell-mediated chromosome transfer. The predicted human gene UVSSA (formerly known as KIAA1530)7 corrects defective TCR in UVSS-A cells. We identify three nonsense and frameshift UVSSA mutations in individuals with UVSS-A, indicating that UVSSA is the causative gene for this syndrome. The UVSSA protein forms a complex with USP7 (ref. 8), stabilizes ERCC6 and restores the hypophosphorylated form of RNA polymerase II after UV irradiation.

Opini Anda

Klik untuk menuliskan opini Anda tentang koleksi ini!

Kembali