利用Ecotilling技术筛选家蚕E群突变体的突变基因(英文)

Screening Mutational Genes of Bombyx mori E Group Mutants by Ecotilling

对突变体的发现与鉴定是揭示基因功能的一种有效手段。为了研究家蚕E群突变体的基因多样性,利用Ecotilling技术平台,对家蚕18个E群突变体中的14个Hox基因片段(总长408 kb)进行突变筛选,获得了48个错义突变和213个沉默突变,其中60%是转换型突变,即嘌呤突变为嘌呤,嘧啶突变为嘧啶。研究结果表明,11个Hox基因片段在不同E群突变体中发生了突变,其中在E群突变体06-250中的Bmshx7基因有不同的错义突变位点,特别在homeobox结构域也有突变发生,这些突变可能会影响到Bmshx7基因的功能,即影响对目标基因的转录调控,最终产生突变体06-250相应的突变表型。研究获得的Hox基因的其它突变信息目前与E群突变体的表型尚无直接关联,但其研究结果可为继续筛选鉴定E群突变基因以及探讨基因的功能提供有价值的信息。

Discovery and identification of mutants is an efficient means to reveal gene function.In order to research gene polymorphisms of E group mutants,this study obtained 48 missense mutations and 213 silent mutations by screening on a 408 kb fragment in 14 Hox genes from 18 silkworm E group mutants by Ecotilling technology.Nearly 60% mutations were resulted from transition within purines or pyrimidines.The result showed that 11 Hox gene segments have occurred mutations in different E group mutants,such as the different homologous missense point mutations of Bmshx 7 from 06-250 in E group mutants,especially in homeobox domain region.The mutations could affect Bmshx 7 by regulating the transcription of its target genes resulting in corresponding mutation phenotypes;while other mutations of Hox genes found in this study could not be directly associated with the outcoming phenotypes at present.These mutational information may be valuable for identification of E group mutational genes and research of these genes function in silkworm in the future.