英国牛津大学及剑桥大学韦尔科姆基金会桑格学院研究者联合公布了小鼠基因组测序结果,这些数据为等位基因多样性及功能性研究提供了重要资源,开启了关键模式生物功能研究的新纪元。这些重要的测序结果发表在 Nature杂志上。
研究者通过基因组测序,发现小鼠基因组中具有大量基因变异,是以往研究发现的10倍之多。研究这些基因变异序列数据,探索实验室小鼠的发育系统和等位基因变异的功能特性,证明了至少12%转录本展示了组织的特异性表达,基因多样性为功能多样性的主要诱因。随后,通过分析基因突变位置及其变异类型(小核苷酸多态性、插入缺失或结构变体),分析功能变异的分子特性。这些详细的序列分析数据是新一代功能性分析的又一个新起点。
Mouse genomic variation and its effect on phenotypes and gene regulation.
Nature. 2011 Sep 14;477(7364):289-94.
Abstract:We report genome sequences of 17 inbred strains of laboratory mice and identify almost ten times more variants than previously known. We use these genomes to explore the phylogenetic history of the laboratory mouse and to examine the functional consequences of allele-specific variation on transcript abundance, revealing that at least 12% of transcripts show a significant tissue-specific expression bias. By identifying candidate functional variants at 718 quantitative trait loci we show that the molecular nature of functional variants and their position relative to genes vary according to the effect size of the locus. These sequences provide a starting point for a new era in the functional analysis of a key model organism.