The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.
The protein predicted to be defective in individuals with Fanconi anemia complementation group J (FA-J), FANCJ, is a missing component in the Fanconi anemia pathway of genome maintenance. Here we identify pathogenic mutations in eight individuals with FA-J in the gene encoding the DEAH-box DNA helicase BRIP1, also called FANCJ. This finding is compelling evidence that the Fanconi anemia pathway functions through a direct physical interaction with DNA.
Levitus
Marieke
M
Department of Clinical Genetics and Human Genetics, VU University Medical Center, Van der Boechorststraat 7, NL-1081 BT Amsterdam, The Netherlands.
Waisfisz
Quinten
Q
Godthelp
Barbara C
BC
de Vries
Yne
Y
Hussain
Shobbir
S
Wiegant
Wouter W
WW
Elghalbzouri-Maghrani
Elhaam
E
Steltenpool
Jûrgen
J
Rooimans
Martin A
MA
Pals
Gerard
G
Arwert
Fré
F
Mathew
Christopher G
CG
Zdzienicka
Małgorzata Z
MZ
Hiom
Kevin
K
De Winter
Johan P
JP
Joenje
Hans
H
D002886:Chromosomes, Human, Pair 17; D004268:DNA-Binding Proteins / Q000172:deficiency* / Q000235:genetics*; D005199:Fanconi Anemia / Q000235:genetics*; D051856:Fanconi Anemia Complementation Group Proteins; D005816:Genetic Complementation Test; D006801:Humans; D018895:Microsatellite Repeats; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D020365:RNA Helicases / Q000172:deficiency* / Q000235:genetics*; D017384:Sequence Deletion
D004268:DNA-Binding Proteins; D051856:Fanconi Anemia Complementation Group Proteins; C000618935:BRIP1 protein, human; D020365:RNA Helicases