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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6372
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pubmed:dateCreated |
1992-6-3
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pubmed:databankReference |
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pubmed:abstractText |
Fanconi's anaemia is a rare autosomal recessive disorder characterized by progressive pancytopaenia and a cellular hypersensitivity to DNA crosslinking agents. Four genetic complementation groups have been identified so far, and here we use a functional complementation method to clone complementary DNAs that correct the defect of group C cells. The cDNAs encode alternatively processed transcripts of a new gene, designated FACC, which is mutated in group C patients. The predicted FACC polypeptide does not contain any motifs common to other proteins and so represents a new gene involved in the cellular response to DNA damage.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
0028-0836
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
30
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pubmed:volume |
356
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
763-7
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:1574115-Amino Acid Sequence,
pubmed-meshheading:1574115-Base Sequence,
pubmed-meshheading:1574115-Blotting, Northern,
pubmed-meshheading:1574115-Cell Line,
pubmed-meshheading:1574115-Cell Survival,
pubmed-meshheading:1574115-Cloning, Molecular,
pubmed-meshheading:1574115-Dose-Response Relationship, Drug,
pubmed-meshheading:1574115-Drug Resistance,
pubmed-meshheading:1574115-Epoxy Compounds,
pubmed-meshheading:1574115-Fanconi Anemia,
pubmed-meshheading:1574115-Gene Library,
pubmed-meshheading:1574115-Genetic Complementation Test,
pubmed-meshheading:1574115-Humans,
pubmed-meshheading:1574115-Mitomycin,
pubmed-meshheading:1574115-Molecular Sequence Data,
pubmed-meshheading:1574115-Mutagens,
pubmed-meshheading:1574115-Mutation,
pubmed-meshheading:1574115-Polymerase Chain Reaction,
pubmed-meshheading:1574115-Restriction Mapping,
pubmed-meshheading:1574115-Transfection
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pubmed:year |
1992
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pubmed:articleTitle |
Cloning of cDNAs for Fanconi's anaemia by functional complementation.
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pubmed:affiliation |
Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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