CAJ | 학술논문

比较基因组学的研究发现:人类基因组中约5%的序列受到选择压力的限制,但编码序列只占其中很小一部分,约3.5%是保守、非编码序列.这些保守非编码元件具有重要功能.可能在染色质构型(高级结构)、DNA转录和RNA加工等不同水平参与了基因的表达调控,与哺乳动物的形态发生和人类疾病相关.文章简要综述了保守非编码元件的识别、功能及验证、起源演化以及与人类疾病的关系.
비교기인조학적연구발현:인류기인조중약5%적서렬수도선택압력적한제,단편마서렬지점기중흔소일부분,약3.5%시보수、비편마서렬.저사보수비편마원건구유중요공능.가능재염색질구형(고급결구)、DNA전록화RNA가공등불동수평삼여료기인적표체조공,여포유동물적형태발생화인류질병상관.문장간요종술료보수비편마원건적식별、공능급험증、기원연화이급여인류질병적관계.
Study of comparative genomics has revealed that about 5% of the human genome are under purifying selection, 3.5% of which are conserved non-coding elements (CNEs). While the coding regions comprise of only a small part. In human, the CNEs are functionally important, which may be associated with the process of the establishment and maintain of chromatin architecture, transcription regulation, and pre-mRNA processing. They are also related to ontogeny of mammals and human diseases. This review outlined the identification, functional significance, evolutionary origin, and effects on human genetic defects of the CNEs.