UV-sensitive syndrome

From Wikipedia, the free encyclopedia
Jump to navigation Jump to search
UV-sensitive syndrome
Other namesUVSS
Autosomal recessive - en.svg
This condition is inherited in an autosomal recessive manner.

UV-sensitive syndrome is a cutaneous condition inherited in an autosomal recessive fashion, characterized by photosensitivity and solar lentigines.[1] Recent research identified that mutations of the KIAA1530 (UVSSA) gene as cause for the development of UV-sensitive syndrome.[2] Furthermore, this protein was identified as a new player in the Transcription-coupled repair (TC-NER).[2]

See also[edit]


  1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 1342. ISBN 1-4160-2999-0.
  2. ^ a b Schwertman P., Marteijn JA.; Lagarou A; Dekkers DH; Raams A; van der Hoek AC; Laffeber C; Hoeijmakers JH; Demmers JA; Fousteri M; Vermeulen W (May 2012). "UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair". Nat. Genet. 44 (5): 598–602. doi:10.1038/ng.2230. PMID 22466611.

Further reading[edit]

External links[edit]

External resources