rdf:type |
|
lifeskim:mentions |
umls-concept:C0009207,
umls-concept:C0012578,
umls-concept:C0013138,
umls-concept:C0015249,
umls-concept:C0017337,
umls-concept:C0026336,
umls-concept:C0043346,
umls-concept:C0086418,
umls-concept:C1333357,
umls-concept:C1334043,
umls-concept:C2700640
|
pubmed:issue |
6
|
pubmed:dateCreated |
1993-1-13
|
pubmed:databankReference |
|
pubmed:abstractText |
The haywire gene of Drosophila encodes a protein with 66% identity to the product of the human ERCC3 gene, associated with xeroderma pigmentosum B (XP-B) and Cockayne's syndrome (CS). XP is a human autosomal recessive disease characterized by extreme sensitivity to ultraviolet irradiation and marked susceptibility to skin cancer. In addition, XP and CS patients often exhibit a variety of defects, ranging from central nervous system disorders to hypogonadism. Phenotypes of haywire mutants mimic some of the effects of XP. Many haywire alleles are recessive lethal, viable alleles cause ultraviolet sensitivity, and files expressing marginal levels of haywire display motor defects and reduced life span. Progeny of females carrying a maternal effect allele show central nervous system defects.
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pubmed:grant |
|
pubmed:language |
eng
|
pubmed:journal |
|
pubmed:citationSubset |
IM
|
pubmed:chemical |
|
pubmed:status |
MEDLINE
|
pubmed:month |
Dec
|
pubmed:issn |
0092-8674
|
pubmed:author |
|
pubmed:issnType |
Print
|
pubmed:day |
11
|
pubmed:volume |
71
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
925-37
|
pubmed:dateRevised |
2007-11-14
|
pubmed:meshHeading |
pubmed-meshheading:1458540-Amino Acid Sequence,
pubmed-meshheading:1458540-Animals,
pubmed-meshheading:1458540-Base Sequence,
pubmed-meshheading:1458540-Cockayne Syndrome,
pubmed-meshheading:1458540-DNA Repair,
pubmed-meshheading:1458540-DNA-Binding Proteins,
pubmed-meshheading:1458540-Drosophila Proteins,
pubmed-meshheading:1458540-Drosophila melanogaster,
pubmed-meshheading:1458540-Gene Expression Regulation,
pubmed-meshheading:1458540-Humans,
pubmed-meshheading:1458540-Models, Genetic,
pubmed-meshheading:1458540-Molecular Sequence Data,
pubmed-meshheading:1458540-Sequence Homology, Amino Acid,
pubmed-meshheading:1458540-Xeroderma Pigmentosum
|
pubmed:year |
1992
|
pubmed:articleTitle |
A Drosophila model for xeroderma pigmentosum and Cockayne's syndrome: haywire encodes the fly homolog of ERCC3, a human excision repair gene.
|
pubmed:affiliation |
Department of Molecular, Cellular and Developmental Biology, University of Colorado, Boulder 80309-0347.
|
pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.
|