Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas

被引：1272

作者：

Wu, Gang ^{[2
]}

Broniscer, Alberto ^{[3
]}

McEachron, Troy A. ^{[4
]}

Lu, Charles ^{[1
]}

Paugh, Barbara S. ^{[4
]}

Becksfort, Jared ^{[5
]}

Qu, Chunxu ^{[5
]}

Ding, Li ^{[1
]}

Huether, Robert ^{[2
]}

Parker, Matthew ^{[2
]}

Zhang, Junyuan ^{[4
]}

Gajjar, Amar ^{[3
]}

Dyer, Michael A. ^{[4
]}

Mullighan, Charles G. ^{[6
]}

Gilbertson, Richard J. ^{[4
]}

Mardis, Elaine R. ^{[1
]}

Wilson, Richard K. ^{[1
]}

Downing, James R. ^{[6
]}

Ellison, David W. ^{[6
]}

Zhang, Jinghui ^{[2
]}

Baker, Suzanne J. ^{[4
]}

机构：

[1] Washington Univ, Sch Med, Genome Inst, St Louis, MO 63130 USA

[2] St Jude Childrens Res Hosp, Dept Computat Biol, Memphis, TN 38105 USA

[3] St Jude Childrens Res Hosp, Dept Oncol, Memphis, TN 38105 USA

[4] St Jude Childrens Res Hosp, Dept Dev Neurobiol, Memphis, TN 38105 USA

[5] St Jude Childrens Res Hosp, Hartwell Ctr Biotechnol & Bioinformat, Memphis, TN 38105 USA

[6] St Jude Childrens Res Hosp, Dept Pathol, Memphis, TN 38105 USA

来源：

NATURE GENETICS | 2012年 / 44卷 / 03期

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1038/ng.1102

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

To identify somatic mutations in pediatric diffuse intrinsic pontine glioma (DIPG), we performed whole-genome sequencing of DNA from seven DIPGs and matched germline tissue and targeted sequencing of an additional 43 DIPGs and 36 non-brainstem pediatric glioblastomas (non-BS-PGs). We found that 78% of DIPGs and 22% of non-BS-PGs contained a mutation in H3F3A, encoding histone H3.3, or in the related HIST1H3B, encoding histone H3.1, that caused a p. Lys27Met amino acid substitution in each protein. An additional 14% of non-BS-PGs had somatic mutations in H3F3A causing a p. Gly34Arg alteration.

引用

页码：251 / 253

页数：3

共 14 条

[1] Homozygous loss of ADAM3A revealed by genome-wide analysis of pediatric high-grade glioma and diffuse intrinsic pontine gliomas [J].

Barrow, Jennifer ;

Adamowicz-Brice, Martyna ;

Cartmill, Maria ;

MacArthur, Donald ;

Lowe, James ;

Robson, Keith ;

Brundler, Marie-Anne ;

Walker, David A. ;

Coyle, Beth ;

Grundy, Richard .

NEURO-ONCOLOGY, 2011, 13 (02) :212-222

[2] High-resolution profiling of histone methylations in the human genome [J].

Barski, Artern ;

Cuddapah, Suresh ;

Cui, Kairong ;

Roh, Tae-Young ;

Schones, Dustin E. ;

Wang, Zhibin ;

Wei, Gang ;

Chepelev, Iouri ;

Zhao, Keji .

CELL, 2007, 129 (04) :823-837

[3] A Distinct Spectrum of Copy Number Aberrations in Pediatric High-Grade Gliomas [J].

Bax, Dorine A. ;

Mackay, Alan ;

Little, Suzanne E. ;

Carvalho, Diana ;

Viana-Pereira, Marta ;

Tamber, Narinder ;

Grigoriadis, Anita E. ;

Ashworth, Alan ;

Reis, Rui M. ;

Ellison, David W. ;

Al-Sarraj, Safa ;

Hargrave, Darren ;

Jones, Chris .

CLINICAL CANCER RESEARCH, 2010, 16 (13) :3368-3377

[4] Supratentorial high-grade astrocytoma and diffuse brainstem glioma: Two challenges for the pediatric oncologist [J].

Broniscer, A ;

Gajjar, A .

ONCOLOGIST, 2004, 9 (02) :197-206

[5] Histones: Annotating Chromatin [J].

Campos, Eric I. ;

Reinberg, Danny .

ANNUAL REVIEW OF GENETICS, 2009, 43 :559-599

[6] Histone onco-modifications [J].

Fullgrabe, J. ;

Kavanagh, E. ;

Joseph, B. .

ONCOGENE, 2011, 30 (31) :3391-3403

[7] Distinct Factors Control Histone Variant H3.3 Localization at Specific Genomic Regions [J].

Goldberg, Aaron D. ;

Banaszynski, Laura A. ;

Noh, Kyung-Min ;

Lewis, Peter W. ;

Elsaesser, Simon J. ;

Stadler, Sonja ;

Dewell, Scott ;

Law, Martin ;

Guo, Xingyi ;

Li, Xuan ;

Wen, Duancheng ;

Chapgier, Ariane ;

DeKelver, Russell C. ;

Miller, Jeffrey C. ;

Lee, Ya-Li ;

Boydston, Elizabeth A. ;

Holmes, Michael C. ;

Gregory, Philip D. ;

Greally, John M. ;

Rafii, Shahin ;

Yang, Chingwen ;

Scambler, Peter J. ;

Garrick, David ;

Gibbons, Richard J. ;

Higgs, Douglas R. ;

Cristea, Ileana M. ;

Urnov, Fyodor D. ;

Zheng, Deyou ;

Allis, C. David .

CELL, 2010, 140 (05) :678-691

[8] An integrated genomic analysis of human glioblastoma Multiforme [J].

Parsons, D. Williams ;

Jones, Sian ;

Zhang, Xiaosong ;

Lin, Jimmy Cheng-Ho ;

Leary, Rebecca J. ;

Angenendt, Philipp ;

Mankoo, Parminder ;

Carter, Hannah ;

Siu, I-Mei ;

Gallia, Gary L. ;

Olivi, Alessandro ;

McLendon, Roger ;

Rasheed, B. Ahmed ;

Keir, Stephen ;

Nikolskaya, Tatiana ;

Nikolsky, Yuri ;

Busam, Dana A. ;

Tekleab, Hanna ;

Diaz, Luis A., Jr. ;

Hartigan, James ;

Smith, Doug R. ;

Strausberg, Robert L. ;

Marie, Suely Kazue Nagahashi ;

Shinjo, Sueli Mieko Oba ;

Yan, Hai ;

Riggins, Gregory J. ;

Bigner, Darell D. ;

Karchin, Rachel ;

Papadopoulos, Nick ;

Parmigiani, Giovanni ;

Vogelstein, Bert ;

Velculescu, Victor E. ;

Kinzler, Kenneth W. .

SCIENCE, 2008, 321 (5897) :1807-1812

[9] Genome-Wide Analyses Identify Recurrent Amplifications of Receptor Tyrosine Kinases and Cell-Cycle Regulatory Genes in Diffuse Intrinsic Pontine Glioma [J].

Paugh, Barbara S. ;

Broniscer, Alberto ;

Qu, Chunxu ;

Miller, Claudia P. ;

Zhang, Junyuan ;

Tatevossian, Ruth G. ;

Olson, James M. ;

Geyer, J. Russell ;

Chi, Susan N. ;

da Silva, Nasjla Saba ;

Onar-Thomas, Arzu ;

Baker, Justin N. ;

Gajjar, Amar ;

Ellison, David W. ;

Baker, Suzanne J. .

JOURNAL OF CLINICAL ONCOLOGY, 2011, 29 (30) :3999-4006

[10] Integrated Molecular Genetic Profiling of Pediatric High-Grade Gliomas Reveals Key Differences With the Adult Disease [J].

Paugh, Barbara S. ;

Qu, Chunxu ;

Jones, Chris ;

Liu, Zhaoli ;

Adamowicz-Brice, Martyna ;

Zhang, Junyuan ;

Bax, Dorine A. ;

Coyle, Beth ;

Barrow, Jennifer ;

Hargrave, Darren ;

Lowe, James ;

Gajjar, Amar ;

Zhao, Wei ;

Broniscer, Alberto ;

Ellison, David W. ;

Grundy, Richard G. ;

Baker, Suzanne J. .

JOURNAL OF CLINICAL ONCOLOGY, 2010, 28 (18) :3061-3068

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