The Fanconi Anemia Polypeptide FACC is Localized to the Cytoplasm

Fanconi anemia (FA) is an autosomal recessive disease characterized by congenital anomalies, aplastic anemia, and chromosomal instability. A cDNA encoding the FA complementation group C (FACC) polypeptide was recently cloned [Strathdee, C. A., Gavish, H., Shannon, W. R. \& Buchwald, M. (1992) Na...

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Bibliographic Details
Published in:Proceedings of the National Academy of Sciences - PNAS 1994-07, Vol.91 (14), p.6712-6716
Main Authors: Yamashita, Takayuki, Barber, Dwayne L., Zhu, Yuan, Wu, Nan, D'Andrea, Alan D.
Format: Article
Language:English
Subjects:
Alleles
Amino acids
Antibodies
Antiserum
Base Sequence
Cell Cycle Proteins
Cell Fractionation
Cell Line
Cell Line, Transformed
Cell lines
Cell Survival - drug effects
Cellular biology
Complementary DNA
Cytoplasm
DNA Primers
DNA-Binding Proteins
Epitopes - analysis
Exons
FACC protein
Fanconi Anemia - genetics
Fanconi Anemia - metabolism
Fanconi Anemia Complementation Group C Protein
Fanconi Anemia Complementation Group Proteins
Fanconi syndrome
Fluorescent Antibody Technique
Genetic Complementation Test
Genetic mutation
Hemagglutinin Glycoproteins, Influenza Virus
Hemagglutinins, Viral - analysis
Hemagglutinins, Viral - biosynthesis
Herpesvirus 4, Human - genetics
Humans
localization
Lymphocytes - cytology
Lymphocytes - drug effects
Lymphocytes - metabolism
man
Medical research
Methionine - metabolism
Mitomycin - toxicity
Molecular Sequence Data
Molecular Weight
mutants
Mutation
Nuclear Proteins
Pathology
Phenotype
Point Mutation
Polymerase Chain Reaction
Protein Biosynthesis
Proteins
Proteins - analysis
Rabbits
Sequence Deletion
Viral Envelope Proteins - analysis
Viral Envelope Proteins - biosynthesis
wild-type
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Description
Summary:Fanconi anemia (FA) is an autosomal recessive disease characterized by congenital anomalies, aplastic anemia, and chromosomal instability. A cDNA encoding the FA complementation group C (FACC) polypeptide was recently cloned [Strathdee, C. A., Gavish, H., Shannon, W. R. \& Buchwald, M. (1992) Nature (London) 356, 763-767]. To further characterize this polypeptide, we generated a rabbit polyclonal antiserum against its carboxyl terminus. We used this antiserum to analyze the FACC polypeptide from normal or mutant (FA) lymphoblast cell lines. By immunoprecipitation, the wild-type FACC was a 60-kDa protein, consistent with its predicted molecular mass. FA group C cell lines expressed full-length FACC, truncated FACC, or no detectable FACC polypeptide. In addition, the antiserum specifically immunoprecipitated a 50-kDa and a 150-kDa FACC-related protein (FRP-50 and FRP-150). Unexpectedly, cell fractionation and immunofluorescence studies demonstrated that the FACC polypeptide localizes to the cytoplasm. In conclusion, we have generated an antiserum specific for the human FACC polypeptide. The antiserum should be useful for screening FA cells for mutant FACC polypeptides and for identifying and cloning FACC-related proteins.
ISSN:0027-8424
1091-6490
DOI:10.1073/pnas.91.14.6712