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灵长类动物进化过程中基因替代变体的鉴定及新型多态性的插入

Identification of Alternative Variants and Insertion of the Novel Polymorphic in Gene during Primate Evolution.

作者信息

Lee Ja-Rang, Kim Young-Hyun, Park Sang-Je, Choe Se-Hee, Cho Hyeon-Mu, Lee Sang-Rae, Kim Sun-Uk, Kim Ji-Su, Sim Bo-Woong, Song Bong-Seok, Jeong Kang-Jin, Lee Youngjeon, Jin Yeung Bae, Kang Philyong, Huh Jae-Won, Chang Kyu-Tae

机构信息

National Primate Research Center, Korea Research Institute of Bioscience and Biotechnology, Cheongju 28116, Republic of Korea.

National Primate Research Center, Korea Research Institute of Bioscience and Biotechnology, Cheongju 28116, Republic of Korea; National Primate Research Center, Korea Research Institute of Bioscience and Biotechnology, University of Science & Technology (UST), Cheongju 28116, Republic of Korea.

出版信息

Int J Genomics. 2016;2016:1679574. doi: 10.1155/2016/1679574. Epub 2016 Dec 19.

Abstract

encodes a subunit of the tRNA-splicing endonuclease complex, which catalyzes the identification and cleavage of introns from precursor tRNAs. Previously, we identified an -derived alternative transcript in of cynomolgus monkey. Reverse transcription-polymerase chain reaction (RT-PCR) amplification and sequence analysis of primate and human samples identified five novel alternative transcripts, including the exonized transcript. Additionally, we performed comparative expression analysis via RT-qPCR in various cynomolgus, rhesus monkey, and human tissues. RT-qPCR amplification revealed differential expression patterns. Furthermore, genomic PCR amplification and sequencing of primate and human DNA samples revealed that elements were integrated in human and all of the primate samples tested. Intriguingly, in langur genomic DNA, an additional element was inserted into of intron eight of . The new element showed polymorphic insertion. Using standardized nomenclature for repeats, the polymorphic of the langur was designated as being of the subfamily. Our results suggest that integration of the element in contributed to diversity in transcripts and induced lineage- or species-specific evolutionary events such as alternative splicing and polymorphic insertion during primate evolution.

摘要

编码tRNA剪接内切核酸酶复合体的一个亚基,该复合体催化从前体tRNA中识别并切割内含子。此前,我们在食蟹猴中鉴定出一个源自[具体基因名称]的可变转录本。对灵长类动物和人类样本进行逆转录聚合酶链反应(RT-PCR)扩增及[具体基因名称]序列分析,鉴定出五个新的可变转录本,包括[具体转录本名称]外显子化转录本。此外,我们通过RT-qPCR在各种食蟹猴、恒河猴和人类组织中进行了比较表达分析。RT-qPCR扩增显示出差异表达模式。此外,对灵长类动物和人类DNA样本进行基因组PCR扩增及测序表明,[具体基因名称]元件整合在人类及所有测试的灵长类动物样本中。有趣的是,在叶猴基因组DNA中,一个额外的[具体基因名称]元件插入到[具体基因名称]第八内含子的[具体位置]。这个新的[具体基因名称]元件显示出多态性插入。使用[具体基因名称]重复序列的标准化命名法,叶猴[具体基因名称]的多态性[具体基因名称]被指定为属于[具体亚家族名称]亚家族。我们的结果表明,[具体基因名称]元件在[具体基因名称]中的整合促成了转录本的多样性,并在灵长类动物进化过程中引发了谱系或物种特异性的进化事件,如可变剪接和多态性插入。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/645e/5204098/1640a46752c6/IJG2016-1679574.001.jpg

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