CAJ | 학술논문

高相似性DNA重复序列在其复制、遗传过程中容易发生错配，因此其遗传具有不稳定性，然而在决定人类男性特征的Y染色体MSY区却存在着较高比例的重复序列，其中包含了8个巨大回文(P1~P8)和5个长反向重复序列(IR1~IR5)。这些高相似性重复序列在决定男性特征的睾丸特异性基因的进化过程中起着至关重要的作用，且稳定遗传了至少数百万年，然而目前对它们的分子起源和进化机制却所知甚少。本工作仔细地考察了P2、P3和IR2的结构和序列特征，并提出P3和IR2的进化模型。结果丰富了对回文序列进化动力机制的了解，可以为探索较大回文序列的起源和生物学功能提供线索和依据。
고상사성DNA중복서렬재기복제、유전과정중용역발생착배，인차기유전구유불은정성，연이재결정인류남성특정적Y염색체MSY구각존재착교고비례적중복서렬，기중포함료8개거대회문(P1~P8)화5개장반향중복서렬(IR1~IR5)。저사고상사성중복서렬재결정남성특정적고환특이성기인적진화과정중기착지관중요적작용，차은정유전료지소수백만년，연이목전대타문적분자기원화진화궤제각소지심소。본공작자세지고찰료P2、P3화IR2적결구화서렬특정，병제출P3화IR2적진화모형。결과봉부료대회문서렬진화동력궤제적료해，가이위탐색교대회문서렬적기원화생물학공능제공선색화의거。
The high similarity of DNA repeats prone to errors in its replication, genetic process, so the genetic has instability, however, it has a higher proportion of repetitive sequences in determining the human male characteristics of Y chromosome MSY region, which contains 8 large palindrome (P1~P8) and 5 long inverted repeats sequence (IR1~IR5). The high similarity of repetitive sequences play a vital role in the testis specific gene determines male characteristics of the process of evolution, and genetic stability to a few million years, however, the molecular mechanism of origin and evolution of them are poorly understood. This work carefully examines the structure and sequences characteristics of P2, P3 and IR2, and put forward the evolution model of P3 and IR2. Results enrich the understanding of palindromic sequence evolution mechanism, can provide clues to explore the origin and biological function of larger palindromes.