Examining the impact of gene variants on histone lysine methylation

被引：23

作者：

Van Rechem, Capucine

Whetstine, Johnathan R.

机构：

[1] Massachusetts Gen Hosp, Ctr Canc, Charlestown, MA 02129 USA

[2] Harvard Univ, Sch Med, Dept Med, Charlestown, MA 02129 USA

来源：

BIOCHIMICA ET BIOPHYSICA ACTA-GENE REGULATORY MECHANISMS | 2014年 / 1839卷 / 12期

关键词：

Somatic mutation; SNP; KMT; KDM; EZH2; Histone; SINGLE-NUCLEOTIDE POLYMORPHISMS; CHROMATIN REMODELING GENES; LINKED MENTAL-RETARDATION; ZINC-FINGER GENE; SOMATIC MUTATIONS; SOTOS-SYNDROME; NSD1; MUTATIONS; MICROSATELLITE INSTABILITY; COLORECTAL-CANCER; COMPASS FAMILY;

D O I：

10.1016/j.bbagrm.2014.05.014

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

In recent years, there has been a boom in the amount of genome-wide sequencing data that has uncovered important and unappreciated links between certain genes, families of genes and enzymatic processes and diseases such as cancer. Such studies have highlighted the impact that chromatin modifying enzymes could have in cancer and other genetic diseases. In this review, we summarize characterized mutations and single nucleotide polymorphisms (SNPs) in histone lysine methyltransferases (KMTs), histone lysine demethylases (KDMs) and histones. We primarily focus on variants with strong disease correlations and discuss how they could impact histone lysine methylation dynamics and gene regulation. This article is part of a Special Issue entitled: Methylation: A Multifaceted Modification looking at transcription and beyond. (C) 2014 Elsevier B.V. All rights reserved.

引用

页码：1463 / 1476

页数：14

共 138 条

[1] Spliceosomal gene mutations are frequent events in the diverse mutational spectrum of chronic myelomonocytic leukemia but largely absent in juvenile myelomonocytic leukemia [J].

Abu Kar, Sarah ;

Jankowska, Anna ;

Makishima, Hideki ;

Visconte, Valeria ;

Jerez, Andres ;

Sugimoto, Yuka ;

Muramatsu, Hideki ;

Traina, Fabiola ;

Afable, Manuel ;

Guinta, Kathryn ;

Tiu, Ramon V. ;

Przychodzen, Bartlomiej ;

Sakaguchi, Hirotoshi ;

Kojima, Seiji ;

Sekeres, Mikkael A. ;

List, Alan F. ;

McDevitt, Michael A. ;

Maciejewski, Jaroslaw P. .

HAEMATOLOGICA, 2013, 98 (01) :107-113

[2] H3F3A K27M mutations in thalamic gliomas from young adult patients [J].

Aihara, Koki ;

Mukasa, Akitake ;

Gotoh, Kengo ;

Saito, Kuniaki ;

Nagae, Genta ;

Tsuji, Shingo ;

Tatsuno, Kenji ;

Yamamoto, Shogo ;

Takayanagi, Shunsaku ;

Narita, Yoshitaka ;

Shibui, Soichiro ;

Aburatani, Hiroyuki ;

Saito, Nobuhito .

NEURO-ONCOLOGY, 2014, 16 (01) :140-146

[3] How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum [J].

Banka, Siddharth ;

Veeramachaneni, Ratna ;

Reardon, William ;

Howard, Emma ;

Bunstone, Sancha ;

Ragge, Nicola ;

Parker, Michael J. ;

Crow, Yanick J. ;

Kerr, Bronwyn ;

Kingston, Helen ;

Metcalfe, Kay ;

Chandler, Kate ;

Magee, Alex ;

Stewart, Fiona ;

McConnell, Vivienne P. M. ;

Donnelly, Deirdre E. ;

Berland, Siren ;

Houge, Gunnar ;

Morton, Jenny E. ;

Oley, Christine ;

Revencu, Nicole ;

Park, Soo-Mi ;

Davies, Sally J. ;

Fry, Andrew E. ;

Lynch, Sally Ann ;

Gill, Harinder ;

Schweiger, Susann ;

Lam, Wayne W. K. ;

Tolmie, John ;

Mohammed, Shehla N. ;

Hobson, Emma ;

Smith, Audrey ;

Blyth, Moira ;

Bennett, Christopher ;

Vasudevan, Pradeep C. ;

Garcia-Minaur, Sixto ;

Henderson, Alex ;

Goodship, Judith ;

Wright, Michael J. ;

Fisher, Richard ;

Gibbons, Richard ;

Price, Susan M. ;

de Silva, Deepthi C. ;

Temple, I. Karen ;

Collins, Amanda L. ;

Lachlan, Katherine ;

Elmslie, Frances ;

McEntagart, Meriel ;

Castle, Bruce ;

Clayton-Smith, Jill .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2012, 20 (04) :381-388

[4] Natural selection has driven population differentiation in modern humans [J].

Barreiro, Luis B. ;

Laval, Guillaume ;

Quach, Helene ;

Patin, Etienne ;

Quintana-Murci, Lluis .

NATURE GENETICS, 2008, 40 (03) :340-345

[5] Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome [J].

Baujat, G ;

Rio, M ;

Rossignol, S ;

Sanlaville, D ;

Lyonnet, S ;

Le Merrer, M ;

Munnich, A ;

Gicquel, C ;

Cormier-Daire, V ;

Colleaux, L .

AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 74 (04) :715-720

[6] Landscape of somatic mutations and clonal evolution in mantle cell lymphoma [J].

Bea, Silvia ;

Valdes-Mas, Rafael ;

Navarro, Alba ;

Salaverria, Itziar ;

Martin-Garcia, David ;

Jares, Pedro ;

Gine, Eva ;

Pinyol, Magda ;

Royo, Cristina ;

Nadeu, Ferran ;

Conde, Laura ;

Juan, Manel ;

Clot, Guillem ;

Vizan, Pedro ;

Di Croce, Luciano ;

Puente, Diana A. ;

Lopez-Guerra, Monica ;

Moros, Alexandra ;

Roue, Gael ;

Aymerich, Marta ;

Villamor, Neus ;

Colomo, Lluis ;

Martinez, Antonio ;

Valera, Alexandra ;

Martin-Subero, Jose I. ;

Amador, Virginia ;

Hernandez, Luis ;

Rozman, Maria ;

Enjuanes, Anna ;

Forcada, Pilar ;

Muntanola, Ana ;

Hartmann, Elena M. ;

Calasanz, Maria J. ;

Rosenwald, Andreas ;

Ott, German ;

Hernandez-Rivas, Jesus M. ;

Klapper, Wolfram ;

Siebert, Reiner ;

Wiestner, Adrian ;

Wilson, Wyndham H. ;

Colomer, Dolors ;

Lopez-Guillermo, Armando ;

Lopez-Otin, Carlos ;

Puente, Xose S. ;

Campo, Elias .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2013, 110 (45) :18250-18255

[7] Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone [J].

Behjati, Sam ;

Tarpey, Patrick S. ;

Presneau, Nadege ;

Scheipl, Susanne ;

Pillay, Nischalan ;

Van Loo, Peter ;

Wedge, David C. ;

Cooke, Susanna L. ;

Gundem, Gunes ;

Davies, Helen ;

Nik-Zainal, Serena ;

Martin, Sancha ;

McLaren, Stuart ;

Goodie, Victoria ;

Robinson, Ben ;

Butler, Adam ;

Teague, Jon W. ;

Halai, Dina ;

Khatri, Bhavisha ;

Myklebost, Ola ;

Baumhoer, Daniel ;

Jundt, Gernot ;

Hamoudi, Rifat ;

Tirabosco, Roberto ;

Amary, M. Fernanda ;

Futreal, P. Andrew ;

Stratton, Michael R. ;

Campbell, Peter J. ;

Flanagan, Adrienne M. .

NATURE GENETICS, 2013, 45 (12) :1479-U105

[8] Histone H3.3 Mutations Drive Pediatric Glioblastoma through Upregulation of MYCN [J].

Bjerke, Lynn ;

Mackay, Alan ;

Nandhabalan, Meera ;

Burford, Anna ;

Jury, Alexa ;

Popov, Sergey ;

Bax, Dorine A. ;

Carvalho, Diana ;

Taylor, Kathryn R. ;

Vinci, Maria ;

Bajrami, Ilirjana ;

McGonnell, Imelda M. ;

Lord, Christopher J. ;

Reis, Rui M. ;

Hargrave, Darren ;

Ashworth, Alan ;

Workman, Paul ;

Jones, Chris .

CANCER DISCOVERY, 2013, 3 (05) :512-519

[9] KDM4A Lysine Demethylase Induces Site-Specific Copy Gain and Rereplication of Regions Amplified in Tumors [J].

Black, Joshua C. ;

Manning, Amity L. ;

Van Rechem, Capucine ;

Kim, Jaegil ;

Ladd, Brendon ;

Cho, Juok ;

Pineda, Cristiana M. ;

Murphy, Nancy ;

Daniels, Danette L. ;

Montagna, Cristina ;

Lewis, Peter W. ;

Glass, Kimberly ;

Allis, C. David ;

Dyson, Nicholas J. ;

Getz, Gad ;

Whetstine, Johnathan R. .

CELL, 2013, 154 (03) :541-555

[10] Histone Lysine Methylation Dynamics: Establishment, Regulation, and Biological Impact [J].

Black, Joshua C. ;

Van Rechem, Capucine ;

Whetstine, Johnathan R. .

MOLECULAR CELL, 2012, 48 (04) :491-507

← 1 2 3 4 5 6 7 8 9 10 →