生殖系
生物
遗传学
体细胞
外显子组
转录组
表型
基因组学
等位基因
种系突变
乙基亚硝基脲
外显子组测序
基因组
突变
突变体
基因
基因表达
作者
Wenge Li,R. Brent Calder,Jessica C. Mar,Jan Vijg
标识
DOI:10.1016/j.mrfmmm.2015.01.002
摘要
Recently, great progress has been made in single cell genomics and transcriptomics. Here, we present an integrative method, termed single-cell transcriptogenomics (SCTG), in which whole exome sequencing and RNA-seq is performed concurrently on single cells. This methodology enables one to track germline and somatic variants directly from the genome to the transcriptome in individual cells. Mouse embryonic fibroblasts were treated with the powerful mutagen ethylnitrosourea (ENU) and subjected to SCTG. Interestingly, while germline variants were found to be transcribed in an allelically balanced fashion, a significantly different pattern of allelic exclusion was observed for ENU-mutant variants. These results suggest that the adverse effects of induced mutations, in contrast to germline variants, may be mitigated by allelically biased transcription. They also illustrate how SCTG can be instrumental in the direct assessment of phenotypic consequences of genomic variants.
科研通智能强力驱动
Strongly Powered by AbleSci AI