1989 Fiscal Year Annual Research Report

DNA塩基配列の解析による日本人の起源

Research Project

Project/Area Number	01571246
Research Institution	National Institute of Genetics
Principal Investigator	宝来聰国立遺伝学研究所, 総合遺伝研究系, 助手 (40126157)
Keywords	ミトコンドリアDNA / DNA多型 / 塩基配列 / 日本人の起源
Research Abstract	制限酵素切断多型による分布で、ヒトmtDNAは、顕著な人種特異性を示す事が知られている。我々は、黒人7人、白人18人、アジア人70人のmtDNA相同領域の塩基配列を決定し、比較分析をおこなった。胎盤よりmtDNAを分離精製し、KpnI、SacIの2重消化を行い、nonーcoding領域(Dル-プ)、約500塩基対の塩基配列を決定した。すでにこの領域の配列が決定されている6個体の配列を含めて計101個体の配列を比較したところ、563塩基のうち113の部位で多型性を示した。これら多型部位のうち、塩基置換によるものが106部位であった。そのうち、transition型置換が91%をしめた。また一塩基の欠失・挿入の起きている部位が7カ所で確察された。また、多型部位の分布を調べたところ、nonーcoding領域中においてもかなりの偏りが観察された。すなわち、Dル-プの開始部(SacI側)には変異が少なく、tRNAーPro側に行くにしたがって多型部位が増大する傾向にあり、Dル-プ内においても機能上の制約に差異があることを示唆している。さらに超可変ドメインがあり、わずか14塩基の領域で、塩基置換・欠失・挿入等で17種類の異なる配列が観察された。すなわち、約60%の個体がAAAACCCCCTCCCCという配列であったが、その他の個体ではCストレッチ内の塩基置換、TからCの置換とそれに伴うCストレッチの伸長とAストレッチの減少などの種々の配列が観察された。以上のようにnonーcoding領域の多型性はいちじるしく、制限酵素切断型多型分析によるnucleotide diversityの値(0.4%)の約4倍の値(1.5%)を示し、ヒトの集団内変異を同定するのに極めて有効な領域であると考えられた。

Research Products

(12 results)

All Other

All Publications (12 results)

[Publications] S.Horai and K.Hayasaka: "Molecular Evolution and Biology of Human Mitochondrial DNA" Proceedings of International Symposium on“Bionergetics". (1989)
[Publications] T.Sato,S.Nakamura,H.Hiranake,E.Uchida,Y.Ishigaki,K.Seki,R.Kobayashi,S.Horai,T.Ozawa: "Mitochondorial DNA Myopathies:Morphological approach to molecular abrormalities." Proceeding of International Symposium on“Bioenergetics". (1989)
[Publications] M.Hasegawa,H.Kishino,K.Hayasaka and S.Horai: "Mitochondrial DNA evolution in primates:Transition rate has been extremely low in lemur." J.Mol.Evol.
[Publications] S.Horai and K.Hayasaka: "Intraspecific nucleotide sequence differences in the major noncoding region of human mitochondrial DNA" Am.J.Hum.Genet.
[Publications] Y.Goto,N.Itami,N.Kajii,H.Tochimaru,M.Endo and S.Horai: "Renal tubular in volvement mimicking Batter's syndrome in a patient with kearnsーSayre syndrome." J.Pediatrics.
[Publications] K.Hayasaka,T.Ishida and S.Horai: "Heteroplasmy and polymorphisms in the noncoding region of mitochondrial DNA in Japanese monkeys associated with the tandem repeated sequence." Mol.Biol.Evol.
[Publications] Y.Yamamoto,S.Horai and Y.Yuasa: "Increased levels of mitochondrial gene expression in polyps of familial polyposis coli patients." Biochem.Biophy.Res.Commun.159(3). 1100-1106 (1989)
[Publications] M.Yoneda,S.Tsuji,T.Yamauchi,T.Inuzuka,T.Miyatake,S.Horai and T.Ozawa: "Mitochondrial DNA mutation in family with Leber's hereditary optic neuropathy." Lancet i. 1076-1077 (1989)
[Publications] M.Tanaka,M.Yoneda,K.Ohno,W.Sato,M.Yamamoto,I.Nonaka,S.Horai and T.Ozawa: "Differently deleted mitochondrial genomes in materrally inherited chronic progressive external ophthalmoplegia" J.Inher.Metab.Dis.12. 359-362 (1989)
[Publications] T.TanakaーYamamoto,M.Tanaka,K.Ohono,W.Sato,S.Horai and T.Ozawa: "Specific amplocation of deleted mitochondrial DNA from a myopathic patient and analysis of deleeted region with S1 nuclease" Biochemica et Biophisica Acta. 1009(2). 151-155 (1989)
[Publications] S.Horai,K.Hayasaka,K.Murayama,N.Wate,H.Koike and N.Nakai: "DNA amplification from ancient human skeletal remains and their sequence analysis." Proc.Japan.Acad.65 Ser B. 229-233 (1989)
[Publications] S.Horai,K.Hayakawa,K.Hirayama,S.Takenaka and IーHung Pan: "Mitochondrial DNA Polymorphism in three Japanese Populations." Proceedings of CircumーPacific Prehistory Conference 1989. (1989)

1989 Fiscal Year Annual Research Report

DNA塩基配列の解析による日本人の起源

Principal Investigator

宝来 聰 国立遺伝学研究所, 総合遺伝研究系, 助手 (40126157)

Research Products

[Publications] S.Horai and K.Hayasaka: "Molecular Evolution and Biology of Human Mitochondrial DNA" Proceedings of International Symposium on“Bionergetics". (1989)

[Publications] T.Sato,S.Nakamura,H.Hiranake,E.Uchida,Y.Ishigaki,K.Seki,R.Kobayashi,S.Horai,T.Ozawa: "Mitochondorial DNA Myopathies:Morphological approach to molecular abrormalities." Proceeding of International Symposium on“Bioenergetics". (1989)

[Publications] M.Hasegawa,H.Kishino,K.Hayasaka and S.Horai: "Mitochondrial DNA evolution in primates:Transition rate has been extremely low in lemur." J.Mol.Evol.

[Publications] S.Horai and K.Hayasaka: "Intraspecific nucleotide sequence differences in the major noncoding region of human mitochondrial DNA" Am.J.Hum.Genet.

[Publications] Y.Goto,N.Itami,N.Kajii,H.Tochimaru,M.Endo and S.Horai: "Renal tubular in volvement mimicking Batter's syndrome in a patient with kearnsーSayre syndrome." J.Pediatrics.

[Publications] K.Hayasaka,T.Ishida and S.Horai: "Heteroplasmy and polymorphisms in the noncoding region of mitochondrial DNA in Japanese monkeys associated with the tandem repeated sequence." Mol.Biol.Evol.

[Publications] Y.Yamamoto,S.Horai and Y.Yuasa: "Increased levels of mitochondrial gene expression in polyps of familial polyposis coli patients." Biochem.Biophy.Res.Commun.159(3). 1100-1106 (1989)

[Publications] M.Yoneda,S.Tsuji,T.Yamauchi,T.Inuzuka,T.Miyatake,S.Horai and T.Ozawa: "Mitochondrial DNA mutation in family with Leber's hereditary optic neuropathy." Lancet i. 1076-1077 (1989)

[Publications] M.Tanaka,M.Yoneda,K.Ohno,W.Sato,M.Yamamoto,I.Nonaka,S.Horai and T.Ozawa: "Differently deleted mitochondrial genomes in materrally inherited chronic progressive external ophthalmoplegia" J.Inher.Metab.Dis.12. 359-362 (1989)

[Publications] T.TanakaーYamamoto,M.Tanaka,K.Ohono,W.Sato,S.Horai and T.Ozawa: "Specific amplocation of deleted mitochondrial DNA from a myopathic patient and analysis of deleeted region with S1 nuclease" Biochemica et Biophisica Acta. 1009(2). 151-155 (1989)

[Publications] S.Horai,K.Hayasaka,K.Murayama,N.Wate,H.Koike and N.Nakai: "DNA amplification from ancient human skeletal remains and their sequence analysis." Proc.Japan.Acad.65 Ser B. 229-233 (1989)

[Publications] S.Horai,K.Hayakawa,K.Hirayama,S.Takenaka and IーHung Pan: "Mitochondrial DNA Polymorphism in three Japanese Populations." Proceedings of CircumーPacific Prehistory Conference 1989. (1989)

宝来聰国立遺伝学研究所, 総合遺伝研究系, 助手 (40126157)