UV-sensitive syndrome

Definition:

UV-sensitive syndrome (UV(S)S) is an autosomal recessive disorder characterized by mild photosensitivity in sun-exposed areas of the skin, with freckling and telangiectasia, but without the high propensity to skin cancer. UV(S)S and Cockayne syndrome [DS:H00076] are deficient in transcription-coupled nucleotide excision repair (TC-NER), a subpathway of nucleotide-excision repair (NER) that rapidly removes transcription-blocking DNA damage. The cellular and biochemical responses of UV(S)S and Cockayne syndrome cells to UV light are indistinguishable. Some UV(S)S cases carry mutations in the Cockayne syndrome genes ERCC8 or ERCC6 (also known as CSA and CSB, respectively).

References:

[1]. Katsuyoshi Horibata, et al. Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome. Proc Natl Acad Sci U S A. 2004 Oct 26;101(43):15410-5. [Content Brief]

[2]. T Nouspikel, et al. DNA repair in mammalian cells : Nucleotide excision repair: variations on versatility. Cell Mol Life Sci. 2009 Mar;66(6):994-1009. [Content Brief]

[3]. Tiziana Nardo, et al. A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage. Proc Natl Acad Sci U S A. 2009 Apr 14;106(15):6209-14. [Content Brief]

[4]. Xue Zhang, et al. Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair. Nat Genet. 2012 May;44(5):593-7. [Content Brief]

[5]. Yuka Nakazawa, et al. Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair. Nat Genet. 2012 May;44(5):586-92. [Content Brief]

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