Xeroderma pigmentosum

Definition:

Xeroderma pigmentosum (XP) is a rare autosomal-inherited, skin and neurodegenerative disease in which exposure to sunlight can result in a high incidence of skin and mucous membrane cancer. XP is classified into eight genetic complementation groups by the present. In this inside, 7 groups from the XP-A group to the G group show the abnormality in nucleotide excision repair (NER). The symptoms of XP begin in early life. Severe sunburn and blistering occurs in a half of patients, and all show early extensive freckling. Cancer incidence for individuals with XP under 20 years of age is 2,000 times as high as incidence in the general population. Neurodegeneration can be correlated with mutations in specific XP genes (XPA, ERCC3, ERCC2 and ERCC5).

References:

[1]. A F Nichols, et al. Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype. J Biol Chem. 1996 Oct 4;271(40):24317-20. [Content Brief]

[2]. A M Sijbers, et al. Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease. Cell. 1996 Sep 6;86(5):811-22. [Content Brief]

[3]. C Masutani, et al. The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta. Nature. 1999 Jun 17;399(6737):700-4. [Content Brief]

[4]. G D Frederick, et al. Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene. Hum Mol Genet. 1994 Oct;3(10):1783-8. [Content Brief]

[5]. G Weeda, et al. A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome. Cell. 1990 Aug 24;62(4):777-91. [Content Brief]

[6]. James E Cleaver, et al. Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity. Nat Rev Genet. 2009 Nov;10(11):756-68. [Content Brief]

[7]. K Tanaka, et al. Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain. Nature. 1990 Nov 1;348(6296):73-6. [Content Brief]

[8]. L Li, et al. Characterization of molecular defects in xeroderma pigmentosum group C. Nat Genet. 1993 Dec;5(4):413-7. [Content Brief]

[9]. T Nouspikel, et al. Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient. Hum Mol Genet. 1994 Jun;3(6):963-7. [Content Brief]

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