SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype.
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.
Department of Clinical Genetics, Vrije Universiteit (VU) Medical Center, Amsterdam, The Netherlands.
Chantal
C
Stoepker
Karolina
K
Hain
Beatrice
B
Schuster
Yvonne
Y
Hilhorst-Hofstee
Martin A
MA
Rooimans
Jurgen
J
Steltenpool
Anneke B
AB
Oostra
Katharina
K
Eirich
Elisabeth T
ET
Korthof
Aggie W M
AW
Nieuwint
Nicolaas G J
NG
Jaspers
Thomas
T
Bettecken
Hans
H
Joenje
Detlev
D
Schindler
John
J
Rouse
Johan P
JP
de Winter
D000483:Alleles; D002166:Camptothecin / Q000494:pharmacology; D002648:Child; D003432:Cross-Linking Reagents / Q000494:pharmacology; D004260:DNA Repair; D004305:Dose-Response Relationship, Drug; D005199:Fanconi Anemia / Q000235:genetics*; D050883:HSC70 Heat-Shock Proteins; D006360:Heat-Shock Proteins / Q000737:chemistry; D006801:Humans; D047468:Immunoprecipitation; D008297:Male; D016685:Mitomycin / Q000494:pharmacology; D009154:Mutation; D010641:Phenotype; D045522:Recombinases / Q000235:genetics*
D003432:Cross-Linking Reagents; D050883:HSC70 Heat-Shock Proteins; D006360:Heat-Shock Proteins; D045522:Recombinases; D016685:Mitomycin; C542319:SLX4 protein, human; D002166:Camptothecin
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