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

ERCC6 [HSA:2074] [KO:K10841]
ERCC8 [HSA:1161] [KO:K10570]
UVSSA [HSA:57654] [KO:K23720]

See also H00076.

PMID:19153657

Nouspikel T

DNA repair in mammalian cells : Nucleotide excision repair: variations on versatility.

Cell Mol Life Sci 66:994-1009 (2009)
DOI:10.1007/s00018-009-8737-y

PMID:22466610

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)
DOI:10.1038/ng.2229

PMID:22466612

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)
DOI:10.1038/ng.2228

PMID:15486090

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)
DOI:10.1073/pnas.0404587101

PMID:19329487

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)
DOI:10.1073/pnas.0902113106