Abstract
DNA interstrand crosslink repair requires several classes of proteins, including structure-specific endonucleases and Fanconi anemia proteins. SLX4, which coordinates three separate endonucleases, was recently recognized as an important regulator of DNA repair. Here we report the first human individuals found to have biallelic mutations in SLX4. These individuals, who were previously diagnosed as having Fanconi anemia, add SLX4 as an essential component to the FA-BRCA genome maintenance pathway.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Alleles
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Camptothecin / pharmacology
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Child
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Cross-Linking Reagents / pharmacology
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DNA Repair
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Dose-Response Relationship, Drug
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Fanconi Anemia / genetics*
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HSC70 Heat-Shock Proteins
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Heat-Shock Proteins / chemistry
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Humans
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Immunoprecipitation
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Male
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Mitomycin / pharmacology
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Mutation
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Phenotype
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Recombinases / genetics*
Substances
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Cross-Linking Reagents
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HSC70 Heat-Shock Proteins
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Heat-Shock Proteins
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Recombinases
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Mitomycin
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SLX4 protein, human
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Camptothecin