Mutation research. Fundamental and molecular mechanisms of mutagenesis

期刊简介：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.

【译文】突变研究（MR）提供了一个平台，用于发表DNA突变和表观突变的各个方面，从基本的进化方面到遗传学和表观遗传学诊断和治疗的转化应用。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、染色体异常和非整倍体。表观突变被定义为表观基因组的变化，即DNA甲基化、组蛋白修饰和小型调控RNA的变化。MR发表以下领域的文章：特别感兴趣的是DNA损伤和突变影响发育和分化的基本机制，包括各种形式的细胞死亡和细胞衰老的干细胞生物学和细胞命运。人类分子流行病学中基因组不稳定性的研究以及与复杂表型（如人类疾病）的关系被认为是日益重要的研究领域。例如，在DNA修复、复制或重组期间（表观）突变的诱导机制；（表观）突变检测的新方法，重点关注超高通量测序。癌症和衰老中体细胞突变和表观突变的景观。新发突变在人类疾病和衰老中的作用；种群基因组学中的突变。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突变及其在人类疾病和衰老方面的后果。在细胞系和动物模型中产生突变和表观突变的新方法。