KEGG   DISEASE: 紫外線高感受性症候群
エントリ  
H02131                                                             

名称    
紫外線高感受性症候群
  上位グループ
ヌクレオチド除去修復機構異常疾患 [DS:H00403]
概要    
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).
カテゴリ  
皮膚疾患
階層分類  
ヒト疾患 [BR:jp08402]
 皮膚疾患
  皮膚と軟部組織の疾患
   H02131  紫外線高感受性症候群
ICD-11 による疾患分類 [BR:jp08403]
 14 皮膚の疾患
  外因によって誘発される皮膚疾患
   光線または紫外線照射によって誘発される皮膚症
    EJ6Y  その他の明示された光線または紫外線照射によって誘発される皮膚症
     H02131  紫外線高感受性症候群
関連パスウェイ
hsa03420  Nucleotide excision repair
hsa04120  Ubiquitin mediated proteolysis
病因遺伝子 
ERCC6 [HSA:2074] [KO:K10841]
ERCC8 [HSA:1161] [KO:K10570]
UVSSA [HSA:57654] [KO:K23720]
コメント  
See also H00076.
リンク   
ICD-11: EJ6Y
ICD-10: Q82.8
MeSH: C563466
OMIM: 600630 614621 614640
文献    
  著者
Nouspikel T
  タイトル
DNA repair in mammalian cells : Nucleotide excision repair: variations on versatility.
  雑誌
Cell Mol Life Sci 66:994-1009 (2009)
DOI:10.1007/s00018-009-8737-y
文献    
  著者
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
  タイトル
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.
  雑誌
Nat Genet 44:586-92 (2012)
DOI:10.1038/ng.2229
文献    
  著者
Zhang X, Horibata K, Saijo M, Ishigami C, Ukai A, Kanno S, Tahara H, Neilan EG, Honma M, Nohmi T, Yasui A, Tanaka K
  タイトル
Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair.
  雑誌
Nat Genet 44:593-7 (2012)
DOI:10.1038/ng.2228
文献    
  著者
Horibata K, Iwamoto Y, Kuraoka I, Jaspers NG, Kurimasa A, Oshimura M, Ichihashi M, Tanaka K
  タイトル
Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome.
  雑誌
Proc Natl Acad Sci U S A 101:15410-5 (2004)
DOI:10.1073/pnas.0404587101
文献    
  著者
Nardo T, Oneda R, Spivak G, Vaz B, Mortier L, Thomas P, Orioli D, Laugel V, Stary A, Hanawalt PC, Sarasin A, Stefanini M
  タイトル
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage.
  雑誌
Proc Natl Acad Sci U S A 106:6209-14 (2009)
DOI:10.1073/pnas.0902113106

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