Department of Cellular Organization and Signaling, National Centre for Biological Sciences, Tata Institute for Fundamental Research, Bangalore 560065, India.
Department of Cellular Organization and Signaling, National Centre for Biological Sciences, Tata Institute for Fundamental Research, Bangalore 560065, India,
Front Biosci (Landmark Ed). 2020 Jun 1;25(10):1828-1838. doi: 10.2741/4879.
Latest advancements in genomics involving individuals from different races and geographical locations has led to the identification of thousands of common as well as rare genetic variants and copy number variations (CNVs). These studies have surprisingly revealed that the majority of genetic variation is not present within the coding region but rather in the non-coding region of the genome, which is also termed as "Medical Genome". This short review describes how mutations/variations within; regulatory sequences, architectural proteins and transcriptional regulators give rise to the aberrant gene expression profiles that drives cellular transformations and malignancies.
最近在涉及不同种族和地理位置的个体的基因组学方面的进展,已经导致了数千种常见和罕见的遗传变异体和拷贝数变异(CNVs)的鉴定。这些研究令人惊讶地揭示了,大多数遗传变异并不存在于基因组的编码区域内,而是存在于基因组的非编码区域,这也被称为“医学基因组”。这篇简短的综述描述了调控序列、结构蛋白和转录因子中的突变/变异如何导致异常的基因表达谱,从而驱动细胞转化和恶性肿瘤的发生。