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The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J |
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| Authors: | Levitus Marieke Waisfisz Quinten Godthelp Barbara C de Vries Yne Hussain Shobbir Wiegant Wouter W Elghalbzouri-Maghrani Elhaam Steltenpool Jûrgen Rooimans Martin A Pals Gerard Arwert Fré Mathew Christopher G Zdzienicka Małgorzata Z Hiom Kevin De Winter Johan P Joenje Hans |
| Affiliation: | Department of Clinical Genetics and Human Genetics, VU University Medical Center, Van der Boechorststraat 7, NL-1081 BT Amsterdam, The Netherlands. |
| Abstract: | 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. |
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