| Project/Area Number |
10640602
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
遺伝
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| Research Institution | RIKEN (1999)
Tokai University (1998) |
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Principal Investigator |
GONDO Yoichi RIKEN, Mutation Resource Exploration Team, Team Leader (Research Position), マウス変異研究チーム, チームリーダー(研究職) (40225678)
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| Co-Investigator(Kenkyū-buntansha) |
HADANO Shinji Tokai University, The Institute of Medical Sciences, Assistant Professor, 総合医学研究所, 助手 (60281375)
MASUYA Hiroshi RIKEN, Mutation Resource Exploration Team, Research Member (Research Position), マウス変異研究チーム, 研究員 (40321814)
INOUE Maki RIKEN, Mutation Resource Exploration Team, Research Associate (Research Position), マウス変異研究チーム, リサーチソシエイト(研究職) (90321728)
SAITOH Yasushi Tohoku University, Department of Agriculture, Associate Professor, 農学部, 助教授 (70287100)
池田 穰衛 東海大学, 総合医学研究所, 教授 (50266467)
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| Project Period (FY) |
1998 – 1999
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| Project Status |
Completed (Fiscal Year 1999)
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| Budget Amount *help |
¥3,800,000 (Direct Cost: ¥3,800,000)
Fiscal Year 1999: ¥1,800,000 (Direct Cost: ¥1,800,000)
Fiscal Year 1998: ¥2,000,000 (Direct Cost: ¥2,000,000)
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| Keywords | genome / repetitive sequence / satellite DNA / hypervariability / human genome / tandem repeat / evolution / gene conversion / 超可変性,ゲノム / メガサテライトDNA / 高等動物 / げっ歯類 / ゲノム構造 / 遺伝的不安定性 / 分子進化 |
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| Research Abstract |
We proposed the concept of "megasatellite DNA" and it has been widely accepted. The RS447 megasatellite DNA was firstly identified on human 4p15. The unit size of 4746bp is tandemly repeated about 20 to 100 times. The copy number is highly polymorphic and indeed hypervariable. By pedigree analysis, 6 out of 60 parent-to-offspring transmission exhibited copy-number changes. This novel repetitive sequence is, however, neither junk nor selfish DNA. There is an ORF of 1590 bp that codes for an active deubiquitinase. The RS447 sequence is conserved in mammals. The RS447 homologs have been cloned from the Chinese hamster and rat. The tandemly repeated structure is well conserved in all the tested mammalian specied except the mouse. Thus, in order to elucidate the structural function and its evolution, the comparative studies of the RS447 homologs among human and those rodents has been conducted. Sequencing of independent copies RS447 of the human, Chinese hamster and rat indicated more than 99% identities within the species but much lower between the species although there are significantly high homologies. It implies the RS447 tandem repeat is homogenized within species by some mechanism(s) like concerted evolution. At this moment, it is an enigma why RS447 homologs is dispersed distributed in the mouse genome. We have constructed 12 independent transgenic mouse strains which tandemly carry the human RS447 as transgene. These transgenic mice should provide a clue to understand the RS447 structure and evolution in the mouse.
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