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

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