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タイトル: Immigrants to the Nucleus : Analysis of Mitochondrially Derived Nuclear Genomic Regions (NUMT)
著者: 辻, 淳子
著者(別言語): Tsuji, Junko
キーワード: Nuclear genome
mitochondrial DNA
NUMT
mitochondrial pseudogene
retrotransposon
exogenous DNA element
発行日: 2010年3月24日
抄録: From the origin of eukaryotic cells to the present, mitochondrial DNA (mtDNA) fragments continuously have transferred to the nucleus and become nuclear mitochondrial-like DNAs (NUMT). Previous studies concluded that NUMT candidate mtDNA sequences and nuclear NUMT insertion sites are randomly chosen. However, from analyzing 310 human NUMT, we found specific mtDNA transferred pattern and NUMT preference features of nuclear genome. Our result suggests that the mitochondrial promoter region and its peripheral domains (548bp-1142bp counted by D-loop as the origin) were seldom transferred. In NUMT preferentially integrated sites of human genome, AT-rich oligomers appeared in all NUMTs flank and 90% of NUMTs contained retrotransposons in their flanks (more than expected by change, P-value = 0.001). The retrotransposon-encoded endonuclease recognizes AT-rich oligomers (5’-TTTTAA-3’). This suggests retrotransposon-encoded endonuclease may be involved in NUMT insertion. We also crosschecked our NUMT dataset against annotation databases. Almost all NUMTs were non-coding (nc) regions or introns. Only 1~2% of NUMTs have annotated functional roles in human and mouse genome. They were mainly ncRNAs, and those functional human and mouse NUMTs were inserted relatively recently in evolutionary time. Interestingly, one of the human specific functional NUMTs is an ncRNA which is expressed during fetal brain development. Hence, it is conceivable that this element might contribute to the difference between human and chimpanzee brain structure.
内容記述: 報告番号: ; 学位授与年月日: 2010-03-24 ; 学位の種別: 修士 ; 学位の種類: 修士(科学) ; 学位記番号: 修創域第3598号 ; 研究科・専攻: 新領域創成科学研究科情報生命科学専攻
URI: http://hdl.handle.net/2261/37244
出現カテゴリ:025 修士論文
1224125 修士論文(情報生命科学専攻)

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