KEGG   DISEASE: UV-sensitive syndrome
H02131                      Disease                                
UV-sensitive syndrome
Disorders of nucleotide excision repair [DS:H00403]
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).
Skin disease
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
hsa03420  Nucleotide excision repair
hsa04120  Ubiquitin mediated proteolysis
(UVSS1) ERCC6 [HSA:2074] [KO:K10841]
(UVSS2) ERCC8 [HSA:1161] [KO:K10570]
(UVSS3) UVSSA [HSA:57654] [KO:K23720]
See also H00076.
Other DBs
ICD-11: EJ6Y
ICD-10: Q82.8
MeSH: C563466
OMIM: 600630 614621 614640
Nouspikel T
DNA repair in mammalian cells : Nucleotide excision repair: variations on versatility.
Cell Mol Life Sci 66:994-1009 (2009)
PMID:15486090 (ERCC6)
Horibata K, Iwamoto Y, Kuraoka I, Jaspers NG, Kurimasa A, Oshimura M, Ichihashi M, Tanaka K
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 101:15410-5 (2004)
PMID:19329487 (ERCC8)
Nardo T, Oneda R, Spivak G, Vaz B, Mortier L, Thomas P, Orioli D, Laugel V, Stary A, Hanawalt PC, Sarasin A, Stefanini M
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 106:6209-14 (2009)
PMID:22466610 (UVSSA)
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
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.
Nat Genet 44:586-92 (2012)
PMID:22466612 (ERCC6 UVSSA)
Zhang X, Horibata K, Saijo M, Ishigami C, Ukai A, Kanno S, Tahara H, Neilan EG, Honma M, Nohmi T, Yasui A, Tanaka K
Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair.
Nat Genet 44:593-7 (2012)

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