The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia

被引：294

作者：

Levran, O

Attwooll, C

Henry, RT

Milton, KL

Neveling, K

Rio, P

Batish, SD

Kalb, R

Velleuer, E

Barral, S

Ott, J

Petrini, J

Schindler, D

Hanenberg, H

Auerbach, AD

机构：

[1] Rockefeller Univ, Lab Human Genet & Hematol, New York, NY 10021 USA

[2] Mem Sloan Kettering Canc Ctr, New York, NY 10021 USA

[3] Univ Wurzburg, Inst Human Genet, Wurzburg, Germany

[4] Univ Dusseldorf, Dept Pediat Oncol Hematol & Immunol, Dusseldorf, Germany

[5] Rockefeller Univ, Lab Stat Genet, New York, NY 10021 USA

来源：

NATURE GENETICS | 2005年 / 37卷 / 09期

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1038/ng1624

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Seven Fanconi anemia - associated proteins ( FANCA, FANCB, FANCC, FANCE, FANCF, FANCG and FANCL) form a nuclear Fanconi anemia core complex that activates the monoubiquitination of FANCD2, targeting FANCD2 to BRCA1-containing nuclear foci. Cells from individuals with Fanconi anemia of complementation groups D1 and J ( FA- D1 and FA- J) have normal FANCD2 ubiquitination. Using genetic mapping, mutation identification and western- blot data, we identify the defective protein in FA- J cells as BRIP1 ( also called BACH1), a DNA helicase that is a binding partner of the breast cancer tumor suppressor BRCA1.

引用

页码：931 / 933

页数：3

共 13 条

[1] The BRCA1-associated protein BACH1 is a DNA helicase targeted by clinically relevant inactivating mutations
Cantor, S
Drapkin, R
Zhang, F
Lin, YF
Han, JL
Pamidi, S
Livingston, DM
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2004, 101 (08) : 2357 - 2362
[2] BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function
Cantor, SB
Bell, DW
Ganesan, S
Kass, EM
Drapkin, R
Grossman, S
Wahrer, DCR
Sgroi, DC
Lane, WS
Haber, DA
Livingston, DM
[J]. CELL, 2001, 105 (01) : 149 - 160
[3] Chen JJ, 1999, CANCER RES, V59, p1752S
[4] Interaction of the fanconi anemia proteins and BRCA1 in a common pathway
Garcia-Higuera, I
Taniguchi, T
Ganesan, S
Meyn, MS
Timmers, C
Hejna, J
Grompe, M
D'Andrea, AD
[J]. MOLECULAR CELL, 2001, 7 (02) : 249 - 262
[5] Gschwend M, 1996, AM J HUM GENET, V59, P377
[6] Biallelic inactivation of BRCA2 in Fanconi anemia
Howlett, NG
Taniguchi, T
Olson, S
Cox, B
Waisfisz, Q
de Die-Smulders, C
Persky, N
Grompe, M
Joenje, H
Pals, G
Ikeda, H
Fox, EA
D'Andrea, AD
[J]. SCIENCE, 2002, 297 (5581) : 606 - 609
[7] A 20-year perspective on the International Fanconi Anemia Registry (IFAR)
Kutler, DI
Singh, B
Satagopan, J
Batish, SD
Berwick, M
Giampietro, PF
Hanenberg, H
Auerbach, AD
[J]. BLOOD, 2003, 101 (04) : 1249 - 1256
[8] Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes
Levitus, M
Rooimans, MA
Steltenpool, J
Cool, NFC
Oostra, AB
Mathew, CG
Hoatlin, ME
Waisfisz, Q
Arwert, F
de Winter, JP
Joenje, H
[J]. BLOOD, 2004, 103 (07) : 2498 - 2503
[9] RAD51C is required for Holliday junction processing in mammalian cells
Liu, YL
Masson, JY
Shah, R
O'Regan, P
West, SC
[J]. SCIENCE, 2004, 303 (5655) : 243 - 246
[10] A novel ubiquitin ligase is deficient in Fanconi anemia
Meetei, AR
de Winter, JP
Medhurst, AL
Wallisch, M
Waisfisz, Q
van de Vrugt, HJ
Oostra, AB
Yan, ZJ
Ling, C
Bishop, CE
Hoatlin, ME
Joenje, H
Wang, WD
[J]. NATURE GENETICS, 2003, 35 (02) : 165 - 170

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