The nuclear deubiquitinase BAP1 is commonly inactivated by somatic mutations and 3p21.1 losses in malignant pleural mesothelioma

被引：558

作者：

Bott, Matthew ^{[1
,2
]}

Brevet, Marie ^{[1
]}

Taylor, Barry S. ^{[3
]}

Shimizu, Shigeki ^{[1
]}

Ito, Tatsuo ^{[1
]}

Wang, Lu ^{[1
]}

Creaney, Jenette ^{[4
]}

Lake, Richard A. ^{[4
]}

Zakowski, Maureen F. ^{[1
]}

Reva, Boris ^{[3
]}

Sander, Chris ^{[3
]}

Delsite, Robert ^{[5
]}

Powell, Simon ^{[5
]}

Zhou, Qin

Shen, Ronglai

Olshen, Adam

Rusch, Valerie ^{[2
]}

Ladanyi, Marc ^{[1
,6
]}

机构：

[1] Mem Sloan Kettering Canc Ctr, Dept Pathol, New York, NY 10021 USA

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

[3] Mem Sloan Kettering Canc Ctr, Computat Biol Program, New York, NY 10021 USA

[4] Univ Western Australia, Sir Charles Gairdner Hosp, Sch Med & Pharmacol, Natl Ctr Asbestos Dis Res, Nedlands, WA 6009, Australia

[5] Mem Sloan Kettering Canc Ctr, Dept Radiat Oncol, New York, NY 10021 USA

[6] Mem Sloan Kettering Canc Ctr, Human Oncol & Pathogenesis Program, New York, NY 10021 USA

来源：

NATURE GENETICS | 2011年 / 43卷 / 07期

基金：

英国医学研究理事会;

关键词：

BRCA1-ASSOCIATED PROTEIN-1; UBIQUITIN HYDROLASE; DELETION; GENOME; CANCER; CELLS; GENE; ADENOCARCINOMA; ASSOCIATION; ACTIVATION;

D O I：

10.1038/ng.855

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

Malignant pleural mesotheliomas (MPMs) often show CDKN2A and NF2 inactivation, but other highly recurrent mutations have not been described. To identify additional driver genes, we used an integrated genomic analysis of 53 MPM tumor samples to guide a focused sequencing effort that uncovered somatic inactivating mutations in BAP1 in 23% of MPMs. The BAP1 nuclear deubiquitinase is known to target histones (together with ASXL1 as a Polycomb repressor subunit) and the HCF1 transcriptional co-factor, and we show that BAP1 knockdown in MPM cell lines affects E2F and Polycomb target genes. These findings implicate transcriptional deregulation in the pathogenesis of MPM.

引用

页码：668 / U81

页数：7

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