The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.

M Levitus; Q Waisfisz; B C Godthelp; Y de Vries; S Hussain; W W Wiegant; M Z Elghalbzouri-Maghrani; J Steltenpool; M A Rooimans; G Pals; F Arwert; C G Mathew; M Z Zdzienicka; K Hiom; J P de Winter; H Joenje

doi:10.1038/ng1625

The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.

M Levitus, Q Waisfisz, B C Godthelp, Y de Vries, S Hussain, W W Wiegant, M Z Elghalbzouri-Maghrani, J Steltenpool, M A Rooimans, G Pals, F Arwert, C G Mathew, M Z Zdzienicka, K Hiom, J P de Winter, H Joenje

Medical & Molecular Genetics

Research output: Contribution to journal › Article › peer-review

387 Citations (Scopus)

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

Original language	English
Pages (from-to)	934 - 935
Number of pages	2
Journal	Nature Genetics
Volume	37
Issue number	9
DOIs	https://doi.org/10.1038/ng1625
Publication status	Published - Sept 2005

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Levitus, M., Waisfisz, Q., Godthelp, B. C., de Vries, Y., Hussain, S., Wiegant, W. W., Elghalbzouri-Maghrani, M. Z., Steltenpool, J., Rooimans, M. A., Pals, G., Arwert, F., Mathew, C. G., Zdzienicka, M. Z., Hiom, K., de Winter, J. P., & Joenje, H. (2005). The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. Nature Genetics, 37(9), 934 - 935. https://doi.org/10.1038/ng1625

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title = "The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.",

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 ",

author = "M Levitus and Q Waisfisz and Godthelp, {B C} and {de Vries}, Y and S Hussain and Wiegant, {W W} and Elghalbzouri-Maghrani, {M Z} and J Steltenpool and Rooimans, {M A} and G Pals and F Arwert and Mathew, {C G} and Zdzienicka, {M Z} and K Hiom and {de Winter}, {J P} and H Joenje",

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doi = "10.1038/ng1625",

language = "English",

volume = "37",

pages = "934 -- 935",

journal = "Nature Genetics",

issn = "1546-1718",

publisher = "Nature Research",

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Levitus, M, Waisfisz, Q, Godthelp, BC, de Vries, Y, Hussain, S, Wiegant, WW, Elghalbzouri-Maghrani, MZ, Steltenpool, J, Rooimans, MA, Pals, G, Arwert, F, Mathew, CG, Zdzienicka, MZ, Hiom, K, de Winter, JP & Joenje, H 2005, 'The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.', Nature Genetics, vol. 37, no. 9, pp. 934 - 935. https://doi.org/10.1038/ng1625

TY - JOUR

T1 - The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.

AU - Levitus, M

AU - Waisfisz, Q

AU - Godthelp, B C

AU - de Vries, Y

AU - Hussain, S

AU - Wiegant, W W

AU - Elghalbzouri-Maghrani, M Z

AU - Steltenpool, J

AU - Rooimans, M A

AU - Pals, G

AU - Arwert, F

AU - Mathew, C G

AU - Zdzienicka, M Z

AU - Hiom, K

AU - de Winter, J P

AU - Joenje, H

PY - 2005/9

Y1 - 2005/9

N2 - 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

AB - 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

U2 - 10.1038/ng1625

DO - 10.1038/ng1625

M3 - Article

SN - 1546-1718

VL - 37

SP - 934

EP - 935

JO - Nature Genetics

JF - Nature Genetics

IS - 9

ER -

The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.

Abstract

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