Microsatellite expansion mutation,这对我来说是个新概念,这东西以前看到只能和分子标记联系在一起,现在观念得变了,它可能和基因的功能有关.估计不是有关了,是关系很大.该词的出处在刚得到的PNAS上

Non-ATG–initiated translation directed by microsatellite expansions

microsatellite

       在这篇博文中,对此也有提及

http://www.sciencenet.cn/m/user_content.aspx?id=365505

...........................................

Variable Tandem Repeats Accelerate Evolution of Coding and Regulatory Sequences Annual Review of Genetics Genotype-to-phenotype mapping commonly focuses on two major classes of mutations: single nucleotide polymorphisms (SNPs) and copy number variation (CNV). Here, we discuss an underestimated third class of genotypic variation: changes in microsatellite and minisatellite repeats. Such tandem repeats (TRs) are ubiquitous, unstable genomic elements that have historically been designated as nonfunctional “junk DNA” and are therefore mostly ignored in comparative genomics. However, as many as 10% to 20% of eukaryotic genes and promoters contain an unstable repeat tract. Mutations in these repeats often have fascinating phenotypic consequences. For example, changes in unstable repeats located in or near human genes can lead to neurodegenerative diseases such as Huntington disease. Apart from their role in disease, variable repeats also confer useful phenotypic variability, including cell surface variability, plasticity in skeletal morphology, and tuning of the circadian rhythm. As such, TRs combine characteristics of genetic and epigenetic changes that may facilitate organismal evolvability.

转载本文请联系原作者获取授权，同时请注明本文来自闫双勇科学网博客。
链接地址：https://m.sciencenet.cn/blog-479743-401116.html

上一篇：植物表观遗传学修饰技术
下一篇：关注增产方法