UV-sensitive syndrome

Common Name(s)

UV-sensitive syndrome

UV-sensitive syndrome-1 is an autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by {3:Horibata et al., 2004}). Genetic Heterogeneity of UV-Sensitive Syndrome See also UVSS2 ({614621}), caused by mutation in the ERCC8 gene ({609412}) on chromosome 5, and UVSS3 ({614640}), caused by mutation in the UVSSA gene ({614632}) on chromosome 4p16.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "UV-sensitive syndrome" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "UV-sensitive syndrome" returned 2 free, full-text research articles on human participants. First 3 results:

A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage.
 

Author(s): Tiziana Nardo, Roberta Oneda, Graciela Spivak, Bruno Vaz, Laurent Mortier, Pierre Thomas, Donata Orioli, Vincent Laugel, Anne Stary, Philip C Hanawalt, Alain Sarasin, Miria Stefanini

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2009 Apr;106(15):6209-14.

 

UV-sensitive syndrome (UV(S)S) is a recently-identified autosomal recessive disorder characterized by mild cutaneous symptoms and defective transcription-coupled repair (TC-NER), the subpathway of nucleotide excision repair (NER) that rapidly removes damage that can block progression ...

Last Updated: 16 Apr 2009

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Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome.
 

Author(s): Katsuyoshi Horibata, Yuka Iwamoto, Isao Kuraoka, Nicolaas G J Jaspers, Akihiro Kurimasa, Mitsuo Oshimura, Masamitsu Ichihashi, Kiyoji Tanaka

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2004 Oct;101(43):15410-5.

 

UV-sensitive syndrome (UVsS) is a rare autosomal recessive disorder characterized by photosensitivity and mild freckling but without neurological abnormalities or skin tumors. UVsS cells show UV hypersensitivity and defective transcription-coupled DNA repair of UV damage. It was suggested ...

Last Updated: 27 Oct 2004

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Reviews from the PubMed Database

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The terms "UV-sensitive syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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