Mutation Research-fundamental And Molecular Mechanisms Of Mutagenesis SCIESCI

Mutation Research (MR) provides a platform for publishing all aspects of DNA mutations and epimutations, from basic evolutionary aspects to translational applications in genetic and epigenetic diagnostics and therapy. Mutations are defined as all possible alterations in DNA sequence and sequence organization, from point mutations to genome structural variation, chromosomal aberrations and aneuploidy. Epimutations are defined as alterations in the epigenome, i.e., changes in DNA methylation, histone modification and small regulatory RNAs.

MR publishes articles in the following areas:

Of special interest are basic mechanisms through which DNA damage and mutations impact development and differentiation, stem cell biology and cell fate in general, including various forms of cell death and cellular senescence.

The study of genome instability in human molecular epidemiology and in relation to complex phenotypes, such as human disease, is considered a growing area of importance.

Mechanisms of (epi)mutation induction, for example, during DNA repair, replication or recombination; novel methods of (epi)mutation detection, with a focus on ultra-high-throughput sequencing.

Landscape of somatic mutations and epimutations in cancer and aging.

Role of de novo mutations in human disease and aging; mutations in population genomics.

Interactions between mutations and epimutations.

The role of epimutations in chromatin structure and function.

Mitochondrial DNA mutations and their consequences in terms of human disease and aging.

Novel ways to generate mutations and epimutations in cell lines and animal models.

Mutation Research (MR) 为 DNA 突变和表观突变的所有方面提供了一个平台，从基本的进化方面到在遗传和表观遗传诊断和治疗中的转化应用。突变被定义为 DNA 序列和序列组织中所有可能的改变，从点突变到基因组结构变异、染色体畸变和非整倍性。表观突变被定义为表观基因组的改变，即 DNA 甲基化、组蛋白修饰和小调节 RNA 的变化。

MR 在以下领域发表文章：

特别感兴趣的是 DNA 损伤和突变影响发育和分化、干细胞生物学和一般细胞命运的基本机制，包括各种形式的细胞死亡和细胞衰老。

人类分子流行病学中的基因组不稳定性研究以及与人类疾病等复杂表型相关的研究被认为是一个越来越重要的领域。

（表观）突变诱导机制，例如，在 DNA 修复、复制或重组期间； （epi）突变检测的新方法，重点是超高通量测序。

癌症和衰老中的体细胞突变和表观突变。

从头突变在人类疾病和衰老中的作用；群体基因组学的突变。

突变和表观突变之间的相互作用。

表观突变在染色质结构和功能中的作用。

线粒体 DNA 突变及其对人类疾病和衰老的影响。

在细胞系和动物模型中产生突变和表观突变的新方法。

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