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中华蜜蜂的单核苷酸多态性和插入缺失突变位点鉴定
Identification of single nucleotide polymorphism (SNP) and insertion- deletion (InDel) mutation loci in Apis cerana cerana
吴 鹰;蔡宗兵;许雅静; 郭意龙;鲍佳益;康育欣;叶亚萍;钱加珺; 张凯遥; 陈大福;郭 睿
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DOI:10.7679/j.issn.2095-1353.2022.068
作者单位:福建农林大学动物科学学院(蜂学学院),福州 350002;福建农林大学蜂疗研究所,福州 350002
中文关键词:东方蜜蜂,中华蜜蜂,单核苷酸多态性,插入缺失突变,转录组
英文关键词:Apis cerana, Apis cerana cerana; single nucleotide polymorphism; insertion-deletion mutation; transcriptome
中文摘要:
【目的】 本研究拟利用已获得的中华蜜蜂Apis cerana cerana幼虫肠道的转录组数据对单核苷酸多态性(Single nucleotide polymorphism,SNP)和插入缺失(Insertion-Deletion,InDel)突变位点进行挖掘和分析,旨在丰富中华蜜蜂的SNP和InDel信息,并为新型分子标记的开发提供基础。【方法】 根据有效读段与东方蜜蜂Apis cerana参考基因组的比对情况,采用GATK软件识别单碱基错配和碱基的插入缺失情况,再利用ANNOVAR软件对SNP位点和InDel位点进行分析。通过相关生物信息学软件将SNP和InDel位点所在基因分别比对GO和KEGG数据库,以获得相应的功能和通路注释。【结果】 共鉴定到中华蜜蜂的58 919个SNP位点,包括24 548个纯合位点和34 371个杂合位点;发生转换和颠换的SNP位点分别有49 102和9 817个;数量最多和最少的突变类型分别是C/T和T/G;分布在外显子区的SNP位点数量最多,达到22 649个;此外,发生同义突变的SNP位点数量最多,其次是非同义突变;SNP位点所在基因可注释到46个GO条目和121条KEGG通路。共鉴定到6 551个InDel位点,包括3 270个插入突变和3 281个缺失突变;分布在内含子区InDel位点最多,共计2 793个;发生移码插入的InDel位点最多;进一步分析结果显示InDel位点所在基因可注释到27个GO条目和28条KEGG通路。【结论】 本研究鉴定到中华蜜蜂的大量SNP位点和InDel位点,解析了SNP和InDel位点的突变类型、基因组功能元件分布和密码子突变类型,并揭示SNP和InDel位点对中华蜜蜂的重要生物学过程具有潜在影响。
英文摘要:
[Objectives]  To increase the available information on single nucleotide polymorphism (SNP) and insertion- deletion (InDel) mutation loci in Apis cerana cerana by searching for these loci in transcriptome data obtained from the A. c. cerana larval gut. [Methods]  Based on mapping information from the A. cerana reference genome, GATK software was used to identify single base mismatches and base insertion deletions between clean reads. Annovar software was then used to analyze SNP and InDel loci. In addition, genes containing SNP or InDel loci were aligned to the GO and KEGG databases to deduce their likely function and pathway annotation. [Results]  A total of 58 919 SNPs were identified, including 24 548 homozygous and 34 371 heterozygous, sites. Among these, 4 9102 had undergone conversion and 9 817 had undergone transversion. C/T and T/G were the most and least common mutations, and most (22 649) were found in the exon region. Synonymous mutations were more abundant than non-synonymous mutations. Genes containing SNP loci were annotated to 46 GO terms and 121 KEGG pathways. A total of 6 551 InDel loci were identified, including 3 270 insertion mutations and 3 281 deletion mutations. Most (2 793) InDel loci were found in the intronic region. Frameshift insertions were the most common mutation in InDel loci. InDel loci could be annotated to 27 GO terms and 28 KEGG pathways. [Conclusion]  Over 58 000 SNP and 6 500 InDel loci were identified in A. c. cerana and the most common kinds of mutations in these genes, their distribution in various functional elements of the genome, and the codon mutation types, were analyzed. Our findings indicate the likely functions of SNP and InDel loci in A. c. cerana.
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