KEGG   DISEASE: UV-sensitive syndrome
Entry
H02131                      Disease                                

Name
UV-sensitive syndrome
  Supergrp
Disorders of nucleotide excision repair [DS:H00403]
Description
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).
Category
Skin disease
Brite
Human diseases [BR:br08402]
 Skin diseases
  Skin and soft tissue diseases
   H02131  UV-sensitive syndrome
Human diseases in ICD-11 classification [BR:br08403]
 14 Diseases of the skin
  Skin disorders provoked by external factors
   Dermatoses provoked by light or UV radiation
    EJ6Y  Other specified dermatoses provoked by light or UV radiation
     H02131  UV-sensitive syndrome
Related
pathway
hsa03420  Nucleotide excision repair
hsa04120  Ubiquitin mediated proteolysis
Gene
ERCC6 [HSA:2074] [KO:K10841]
ERCC8 [HSA:1161] [KO:K10570]
UVSSA [HSA:57654] [KO:K23720]
Comment
See also H00076.
Other DBs
ICD-11: EJ6Y
ICD-10: Q82.8
MeSH: C563466
OMIM: 600630 614621 614640
Reference
  Authors
Nouspikel T
  Title
DNA repair in mammalian cells : Nucleotide excision repair: variations on versatility.
  Journal
Cell Mol Life Sci 66:994-1009 (2009)
DOI:10.1007/s00018-009-8737-y
Reference
  Authors
Nakazawa Y, Sasaki K, Mitsutake N, Matsuse M, Shimada M, Nardo T, Takahashi Y, Ohyama K, Ito K, Mishima H, Nomura M, Kinoshita A, Ono S, Takenaka K, Masuyama R, Kudo T, Slor H, Utani A, Tateishi S, Yamashita S, Stefanini M, Lehmann AR, Yoshiura K, Ogi T
  Title
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.
  Journal
Nat Genet 44:586-92 (2012)
DOI:10.1038/ng.2229
Reference
  Authors
Zhang X, Horibata K, Saijo M, Ishigami C, Ukai A, Kanno S, Tahara H, Neilan EG, Honma M, Nohmi T, Yasui A, Tanaka K
  Title
Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair.
  Journal
Nat Genet 44:593-7 (2012)
DOI:10.1038/ng.2228
Reference
  Authors
Horibata K, Iwamoto Y, Kuraoka I, Jaspers NG, Kurimasa A, Oshimura M, Ichihashi M, Tanaka K
  Title
Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome.
  Journal
Proc Natl Acad Sci U S A 101:15410-5 (2004)
DOI:10.1073/pnas.0404587101
Reference
  Authors
Nardo T, Oneda R, Spivak G, Vaz B, Mortier L, Thomas P, Orioli D, Laugel V, Stary A, Hanawalt PC, Sarasin A, Stefanini M
  Title
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage.
  Journal
Proc Natl Acad Sci U S A 106:6209-14 (2009)
DOI:10.1073/pnas.0902113106

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