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

Marieke Levitus; Quinten Waisfisz; Barbara C. Godthelp; Yne de Vries; Shobbir Hussain; Wouter W. Wiegant; Elhaam Elghalbzouri-Maghrani; Jûrgen Steltenpool; Martin A. Rooimans; Gerard Pals; Fré Arwert; Christopher G. Mathew; Małgorzata Z. Zdzienicka; Kevin Hiom; Johan P. De Winter; Hans Joenje

doi:10.1038/ng1625

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

Marieke Levitus, Quinten Waisfisz, Barbara C. Godthelp, Yne de Vries, Shobbir Hussain, Wouter W. Wiegant, Elhaam Elghalbzouri-Maghrani, Jûrgen Steltenpool, Martin A. Rooimans, Gerard Pals, Fré Arwert, Christopher G. Mathew, Małgorzata Z. Zdzienicka, Kevin Hiom, Johan P. De Winter, Hans Joenje (Lead / Corresponding author)

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

Keywords

Chromosomes, Human, Pair 17
DNA-binding proteins
Fanconi anemia
Genetic complementation test
Humans
Microsatellite repeats
Molecular sequence data
Mutation
RNA helicases
Sequence deletion

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Levitus, M., Waisfisz, Q., Godthelp, B. C., de Vries, Y., Hussain, S., Wiegant, W. W., Elghalbzouri-Maghrani, E., 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

@article{682ce5a2f8c04b8c8190ea8c0683add0,

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.",

keywords = "Chromosomes, Human, Pair 17, DNA-binding proteins, Fanconi anemia, Genetic complementation test, Humans, Microsatellite repeats, Molecular sequence data, Mutation, RNA helicases, Sequence deletion",

author = "Marieke Levitus and Quinten Waisfisz and Godthelp, {Barbara C.} and {de Vries}, Yne and Shobbir Hussain and Wiegant, {Wouter W.} and Elhaam Elghalbzouri-Maghrani and J{\^u}rgen Steltenpool and Rooimans, {Martin A.} and Gerard Pals and Fr{\'e} Arwert and Mathew, {Christopher G.} and Zdzienicka, {Ma{\l}gorzata Z.} and Kevin Hiom and {De Winter}, {Johan P.} and Hans Joenje",

year = "2005",

month = sep,

doi = "10.1038/ng1625",

language = "English",

volume = "37",

pages = "934--935",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Publishing Group",

number = "9",

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Levitus, M, Waisfisz, Q, Godthelp, BC, de Vries, Y, Hussain, S, Wiegant, WW, Elghalbzouri-Maghrani, E, 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, Marieke

AU - Waisfisz, Quinten

AU - Godthelp, Barbara C.

AU - de Vries, Yne

AU - Hussain, Shobbir

AU - Wiegant, Wouter W.

AU - Elghalbzouri-Maghrani, Elhaam

AU - Steltenpool, Jûrgen

AU - Rooimans, Martin A.

AU - Pals, Gerard

AU - Arwert, Fré

AU - Mathew, Christopher G.

AU - Zdzienicka, Małgorzata Z.

AU - Hiom, Kevin

AU - De Winter, Johan P.

AU - Joenje, Hans

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.

KW - Chromosomes, Human, Pair 17

KW - DNA-binding proteins

KW - Fanconi anemia

KW - Genetic complementation test

KW - Humans

KW - Microsatellite repeats

KW - Molecular sequence data

KW - Mutation

KW - RNA helicases

KW - Sequence deletion

U2 - 10.1038/ng1625

DO - 10.1038/ng1625

M3 - Article

C2 - 16116423

SN - 1061-4036

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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