|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
3
|
|
pubmed:dateCreated |
1996-12-16
|
|
pubmed:databankReference |
|
|
pubmed:abstractText |
Fanconi anaemia (FA) is an autosomal recessive disorder characterized by a diversity of clinical symptoms including skeletal abnormalities, progressive bone marrow failure and a marked predisposition to cancer. FA cells exhibit chromosomal instability and hyper-responsiveness to the clastogenic and cytotoxic effects of bifunctional alkylating (cross-linking) agents, such as diepoxybutane (DEB) and mitomycin C (MMC). Five complementation groups (A-E) have been distinguished on the basis of somatic cell hybridization experiments, with group FA-A accounting for over 65% of the cases analysed. A cDNA for the group C gene (FAC) was reported and localized to chromosome 9q22.3 (ref.8). Genetic map positions were recently reported for two more FA genes, FAA (16q24.3) and FAD (3p22-26). Here we report the isolation of a cDNA representing the FAA gene, following an expression cloning method similar to the one used to clone the FAC gene. The 5.5-kb cDNA has an open reading frame of 4,368 nucleotides. In contrast to the 63-kD cytosolic protein encoded by the FAC gene, the predicted FAA protein (M(r) 162, 752) contains two overlapping bipartite nuclear localization signals and a partial leucine zipper consensus, which are suggestive of a nuclear localization.
|
|
pubmed:grant |
|
|
pubmed:commentsCorrections |
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Nov
|
|
pubmed:issn |
1061-4036
|
|
pubmed:author |
pubmed-author:AlonNN,
pubmed-author:ArwertFF,
pubmed-author:Bosnoyan-CollinsLL,
pubmed-author:BuchwaldMM,
pubmed-author:CallenD FDF,
pubmed-author:CarreauMM,
pubmed-author:ChengN CNC,
pubmed-author:GilleJ JJJ,
pubmed-author:JoenjeHH,
pubmed-author:KruytF AFA,
pubmed-author:LightfootJJ,
pubmed-author:Lo Ten FoeJ RJR,
pubmed-author:PalmMM,
pubmed-author:ParkerLL,
pubmed-author:PronkJ CJC,
pubmed-author:RooimansM AMA,
pubmed-author:SavoiaAA,
pubmed-author:StrunkM HMH,
pubmed-author:WijkerMM,
pubmed-author:van BerkelC GCG
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
14
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
320-3
|
|
pubmed:dateRevised |
2007-11-14
|
|
pubmed:meshHeading |
pubmed-meshheading:8896563-Amino Acid Sequence,
pubmed-meshheading:8896563-Base Sequence,
pubmed-meshheading:8896563-Blotting, Northern,
pubmed-meshheading:8896563-Cell Cycle Proteins,
pubmed-meshheading:8896563-Cells, Cultured,
pubmed-meshheading:8896563-Cloning, Molecular,
pubmed-meshheading:8896563-DNA, Complementary,
pubmed-meshheading:8896563-DNA-Binding Proteins,
pubmed-meshheading:8896563-Fanconi Anemia,
pubmed-meshheading:8896563-Fanconi Anemia Complementation Group C Protein,
pubmed-meshheading:8896563-Fanconi Anemia Complementation Group Proteins,
pubmed-meshheading:8896563-Gene Expression,
pubmed-meshheading:8896563-Genetic Complementation Test,
pubmed-meshheading:8896563-Humans,
pubmed-meshheading:8896563-Molecular Sequence Data,
pubmed-meshheading:8896563-Mutation,
pubmed-meshheading:8896563-Nuclear Proteins,
pubmed-meshheading:8896563-Open Reading Frames,
pubmed-meshheading:8896563-Protein Biosynthesis,
pubmed-meshheading:8896563-Proteins,
pubmed-meshheading:8896563-Transcription, Genetic
|
|
pubmed:year |
1996
|
|
pubmed:articleTitle |
Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA.
|
|
pubmed:affiliation |
Department of Human Genetics, Free University, Amsterdam, The Netherlands.
|
|
pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
|
