KEGG DISEASE: UV-sensitive syndrome

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 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
Pathway-based classification of diseases [BR:br08402]
Replication and repair
  nt06502  Nucleotide excision repair
   H02131  UV-sensitive syndrome

Pathway

Nucleotide excision repair

Ubiquitin mediated proteolysis

Network

nt06502 Nucleotide excision repair

Gene

(UVSS1) ERCC6 [HSA:2074] [KO:K10841]
(UVSS2) ERCC8 [HSA:1161] [KO:K10570]
(UVSS3) UVSSA [HSA:57654] [KO:K23720]

Comment

See also H00076.

Other DBs

ICD-11:

MeSH:

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

PMID:15486090 (ERCC6)

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

PMID:19329487 (ERCC8)

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

Reference

PMID:22466610 (UVSSA)

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

PMID:22466612 (ERCC6 UVSSA)

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

LinkDB

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