中国实验动物学报2017，Vol.25Issue(1)：20-24,5.DOI:10.3969/j.issn.1005-4847.2017.01.004
中国野生小鼠来源1号染色体替换系缺失突变的发掘及功能注释
Deletion detection and functional annotation of chromosome 1 substitution strains from Chinese wild mice
摘要
Abstract
Objective Deletion detection and annotation of 18 lines from the population of specific chromosome 1 substitution strains ( PCSSs) derived from Chinese wild mice based on whole genome re-sequencing data. Methods Whole genome re?sequencing of the 18 lines were performed on the Illumina Hiseq platform. SpeedSeq software was used to detect the deletion after read alignment. Further annotation was obtained using SnpEff software. Results 13803 dele?tions were identified among the 18 lines, the length of deletion was ranged from 51bp to 70 kb, among them nearly 50%were less than 500 bp. Through functional annotation,we found most of the variants were located in intronic (50. 361%) and intergenic (28. 745%) regions. However, we also identified 31 protein coding genes harboring loss?of?function dele?tions. Among them, 3 genes were associated with human diseases, 7 genes were participated in 11 KEGG pathways. Conclusion The chromosome 1 of PCSSs harbors abundant deletion mutations which can be used as genetic markers in genetic studies.关键词
缺失突变鉴定/二代测序/功能注释/PCSSsKey words
Deletion detection/Next-generation sequencing/Function annotation/PCSSs分类
生物科学引用本文复制引用
徐福意,晁天柱,胡世贤,李凯,周宇荀,周梁良,肖君华..中国野生小鼠来源1号染色体替换系缺失突变的发掘及功能注释[J].中国实验动物学报,2017,25(1):20-24,5.基金项目
国家自然科学基金面上项目(编号:31371257) （编号:31371257）
上海市科技支撑计划(编号:15140900500). （编号:15140900500）
