Abstract
Activation of the Fanconi anemia (FA) DNA damage-response pathway results in the monoubiquitination of FANCD2, which is regulated by the nuclear FA core ubiquitin ligase complex. A FANCD2 protein sequence-based homology search facilitated the discovery of FANCI, a second monoubiquitinated component of the FA pathway. Biallelic mutations in the gene coding for this protein were found in cells from four FA patients, including an FA-I reference cell line.
Publication types
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Comparative Study
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Amino Acid Sequence
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Base Sequence
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Blotting, Western
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Computational Biology
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DNA Repair / genetics*
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Fanconi Anemia / genetics*
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Fanconi Anemia Complementation Group D2 Protein / genetics
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Fanconi Anemia Complementation Group D2 Protein / metabolism
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Fanconi Anemia Complementation Group Proteins / genetics*
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Fanconi Anemia Complementation Group Proteins / metabolism*
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HeLa Cells
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Humans
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Immunoprecipitation
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Microscopy, Fluorescence
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Molecular Sequence Data
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Mutation / genetics
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Sequence Analysis, DNA
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Ubiquitination
Substances
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FANCD2 protein, human
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FANCI protein, human
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Fanconi Anemia Complementation Group D2 Protein
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Fanconi Anemia Complementation Group Proteins