what our genome says about the origins of the … single nucleotide polymorphism ‡ illustrations:...
TRANSCRIPT
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Naruya Saitou National Institute of Genetics
The figures, photos and moving images with ‡marks attached belong to their copyright holders. Reusing or reproducing them is prohibited unless permission is obtained directly from such copyright holders.
‡
Naruya Saitou, DNA kara Mita Nihonjin (The Japanese viewed from DNA), Chikuma Shinsho, 2005
Global Focus on Knowledge Lecture Series Puzzling Out the System of Life
What Our Genome Says about the Origins of the Japanese
May 1, Year 9 of the Scientific Era Bldg 18 Lecture Hall, Komaba Campus, The Univ. of Tokyo
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Who Is "Japanese"?
• People with Japanese nationality? • People who speak Japanese? • People who look Japanese? • People who live in Japan?
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Periods of Human History in the Japanese Islands
‡ Naruya Saitou, E de Wakaru Jinrui no Shinka(Evolution of the Human Race which is Understood with Pictures), Koudan Sha, 2009. Illustrations: Saori Yasutomi
The New View
B.C. A.D.
The Jyomon Era Late period Final period
The Yayoi Era
The Jyomon Era
Final period
The Yayoi Era The Kofun Era
The Kofun Era
Late period
The Old View
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Periods of Human History in the Japanese Islands
‡ Naruya Saitou, E de Wakaru Jinrui no Shinka(Evolution of the Human Race which is Understood with Pictures), Koudan Sha, 2009. Illustrations: Saori Yasutomi
The New View
B.C. A.D.
The Jyomon Era Late period Final period
The Yayoi Era
The Jyomon Era
Final period
The Yayoi Era The Kofun Era
The Kofun Era
Late period
卑弥呼 Himiko
The Old View
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Emergence of the People of the Japanese Islands:Three Hypotheses
• Replacement: Descendants of the first migrants were the original inhabitants, and descendants of a second wave, of a different lineage, are the modern Japanese.
• Mixing: Descendants of the first migrants interbred with later migrants to give rise to the modern Japanese.
• Continuity: Descendants of the first migrants changed over time and became the modern Japanese.
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Three Major Hypotheses of the Emergence of the People of the Japanese Islands
• Replacement: von Siebold, Morse, Shogoro Tsuboi, Yoshikiyo Koganei, others
• Interbreeding: Erwin von Bälz, Ryozo Torii, Kenji Kiyono, Takeo Kanaseki, Bin Yamaguchi, Kazuro Hanihara, Kei‘ichi Omoto, Satoshi Horai, Katsushi Tokunaga, others • Continuity: Kotondo Hasebe, Hisashi Suzuki
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Center/Periphery Theory
• Where a distribution is observed in the pattern ABA, the older are A words, the older B words tend to be. A = Ainu and Okinawans B = Main-island Japanese
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Secular Change in Nasal Root Protrusion, Height and Cranial Index Suzuki, Hone kara Mita Nihonjin no Roots (The Roots of the Japanese as Seen in Their Bones) (1983)
Modern Japanese: • Tall stature * Y • High nose * J • Round head * J
‡ Hisashi Suzuki, Hone kara Mita Nihonjin no Roots (The Roots of the Japanese as Seen in Their Bones), Iwanami Shinsho, 1983
Fig VII-9 Secular change in Japanese traits
Century
Nasal root protrusion C
ranial index
Height Height
Cranial index
Protrusion of nasal root
Jyomon
protrusion
Yayoi Kofun Recent times
Today
Ancient times
The Middle times
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ア イ ヌ 人縄 文 人
モ ン ゴ ル 人南 部 中 国 人
ア ラ ス カ エ ス キ モ ーア リ ュ ー ト
カ ナ ダ エ ス キ モ ー
土 居 が 浜 ( 弥 生 )J( 古 墳 )J( 室 町 ) J( 鎌 倉 )金 隈 ( 弥 生 )
J( 現 代 -南 西 日 本 )
J( 現 代 -東 日 本 )J( 江 戸 )
オ ン タ リ オ イ ロ コ ワ 族
Neighbor-Joining Tree of Japanese and Neighboring Populations According to Continuous Variation in Skulls Dodo, Ishida and Saitou (1992)
‡ Naruya Saitou, DNA kara Mita Nihonjin (The Japanese viewed from DNA), Chikuma Shinsho, 2005
Jomon people Ainu
Doigahama (Yayoi) J (Kofun)
J (modern, SW Japan) J (Edo)
J (modern, E Japan)
South Chinese
Alaskan Eskimos Aleuts
Canadian Eskimos
Ontario Iroquois
Mongolians J (Muromachi)
J(Kamakura) Kanenokuma (Yayoi)
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Relatedness of Human Populations According to Continuous Variation in Morphology Hajime Ishida, et al (2006)
Jomon people
Main-island Japanese
Anthropological Science Vol. 114 (2006) , No. 2 pp.141-151 ”Nonmetric cranial variation of early modern human skeletal remains from Kumejima, Okinawa and the peopling of the Ryukyu Islands” Tadahiko Fukumine, Tsunehiko Hanihara, Akira Nishime, Hajime Ishida ‡
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Emergence of the Japanese According to the Dual-Structure Model Hanihara, Nihonjin no Naritachi (Emergence of the Japanese), (1990)
‡
Kazuro Hanihara, Nihonjin no Naritachi (Emergence of the Japanese), Jimbun Shoin, 1990
Proto-Asians
Epi-Jomon people
Jomon people
NE Asians
NE Asia neolithic peoples
Fig 11-8 The process of emergence of the Japanese (Based on principal component analysis of craniometric values)
In-migrating groups (Yayoi to 8th century)
Mainland Japanese Okinawans Ainu
SW island Kofun people
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Mutation
The Heart of Evolution: DNA accumulates mutations while undergoing repeated self-replication.
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O遺伝子における1塩基の欠失 (X ) によって引き起こされたフレームシフト突然変異
塩基配列: A AAGGATGTCCTCGTGGTGACCCCTTGGCTGGCTCCCATTGTCTGGGAGGGCACATTCAAC B G O X G タンパク質のアミノ酸配列: A/B K D V L V V T P W L A P I V W E G T F N O K D V L V V P L G W L P L S G R A H S T A転移酵素と B 転移酵素 の酵素活性の違いを与えている2個のアミノ酸の違い(+)と、そ
れを引き起こすA遺伝子とB遺伝子2個の塩基の違い (!)
遺伝子の塩基配列 : A GATTTCTACTACCTGGGGGGGTTCTTCGGGGGGTCGGTGCAAGAG B A C ! ! 酵素タンパク質のアミノ酸配列 : A D F Y Y L G G F F G G S V Q R B D F Y Y M G A F F G G S V Q R + +
Frame-shift mutation caused by the deletion of one nucleotide (X) in the O gene
Nucleotide sequences:
Protein amino acid sequences:
The differences (+) in two amino acids conferring a difference in enzyme activity between transferase A and transferase B, and the differences(!) between two
nucleotides in gene A and gene B causing that to happen
Genetic nucleotide sequences:
Enzyme protein amino acid sequences:
Fumiichiro Yamamoto et al, Nature (1990)
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SNP Single Nucleotide Polymorphism
‡
Common ancestral gene of humans and chimpanzees
Mutation
Now
Humans Chimpanzee
Time
Naruya Saitou, Genomu to Shinka – Genomu kara Tachinoboru Seimei (Genomes and Evolution – Life Ascendent from Genomes), Shin'yosha, 2004. Illustrations: Saori Yasutomi
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SNP Single Nucleotide Polymorphism
‡ Illustrations: Saori Yasutomi
Naruya Saitou, Genomu to Shinka – Genomu kara Tachinoboru Seimei (Genomes and Evolution – Life Ascendent from Genomes), Shin'yosha, 2004.
Looking at nucleotide sequences in genes on homologous chromosomes . . .
Hetero-pair AG Homo-pair AA Homo-pair GG Hetero-pair AG
Fig 4-6 Single nucleotide polymorphism SNP (A Single-Nucleosome polymorphism) is a DNA sequence variation occurring when a single nucleotide in a genome. In the above figure, there are examples of each individuals, that is Homo-pair of G or A, and Herero-pair of A and G.
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Individual Genetic Differences among Human Beings
0.07% = 0.07 x 0.01 x 3 billion x 2
= c.4.2 million nucleotide differences
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Random Genetic Drift
Parent generation
Child generation
Eggs selection of genes Random
Sperm
Insemination
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Computer Simulation of Random Genetic Drift (Saitou, Genomu Shinka-gaku Nyumon (Introduction to Genome Evolution)
‡
(A) 1,000 individuals
Gene frequency
Generations
(B) 10,000 individuals
Generations G
ene frequency
Naruya Saitou, Genomu Shinka Gaku Nyuumon(Introduction to Genome Evolution), Kyouritsu Shuppan, 2007.
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ABO Blood Type Gene Frequency Japanese Koreans Chinese Indonesians
Dogrib Guayami Wapisiana Aymara
Yanomama Baniva Cayapo Maquiritare
Papuans Iranians Germans San
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Genetic Neighbor-Joining Tree for 30 Populations Worldwide Saitou (1995)
‡
North Americans
Meganesians (Sahul)
Africans West Eurasians
East Eurasians
South Americans
Naruya Saitou, DNA kara Mita Nihonjin (The Japanese viewed from DNA), Chikuma Shinsho, 2005
Saitou N. (1995) A genetic affinity analysis of human populations. Human Evolution, Vol. 10, No. 1, pp. 17-33.
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Neanderthals
Modern East Eurasians Modern Oceanians Modern West Eurasians Modern Africans
Genealogical tree of human mitochondrial DNA
A F212402(チュクチ人)
A F212400(チュクチ人)
A F212401(チュクチ人)、A F212403(チュクチ人)、A Y 005526(バルカン半島人)
U 33368(モンゴル人)
U 33413(モンゴル人)
A F212429(チュクチ人)
A F212406(チュクチ人)
A Y 005493(バルカン半島人)
A F212399(チュクチ人)
U 33359(モンゴル人)
A B 059887(ブリヤート人)、A F 273588(ウイグル人)、A F 273589(カザフ人)
A F212428(チュクチ人)
A F212404(チュクチ人)
A Y 024647(北欧人)
U 37745(香港人)
A Y 025878(北欧人)、A Y 025877(北欧人)
U 25380(パプアニューギニア人)
M 76312(ナイジェリア人)
U 33342(モンゴル人)
U 37742(香港人)
U 33352(モンゴル人)
U 33405(モンゴル人)
U 33365(モンゴル人)
A B 059877(ブリヤート人)、U 33373(モンゴル人)
U 33357(モンゴル人)
U 25378(パプアニューギニア人)U 33383(モンゴル人)
U 33416(モンゴル人)
U 33395(モンゴル人)
A F249845(インド人)
A F273576(ウイグル人)、A F273577(カザフ人)、U 33393(モンゴル人)、A B 059873(ブリヤート人)
U 33380(モンゴル人)
A F087014(インドネシア人)
A F249844(インド人)、A F249843(インド人)
A F212387(チュクチ人)
A Y 025645(北欧人)
A Y 025300(北欧人)
A F273586(ウイグル人)
A B 059886(ブリヤート人)
M 76291(ナイジェリア人)
U 33412(モンゴル人)
A F273568(ウイグル人)
A F273569(ウイグル人)
A F273572(ウイグル人)、U 33339(モンゴル人)、A B 059889(ブリヤート人)
A Y 025410(北欧人)
A Y 025070(北欧人)
A Y 025990(北欧人)
A Y 025999(北欧人)
A Y 025106(北欧人)
A Y 025670(北欧人)
A Y 025378(北欧人)
A Y 025228(英国人)
A Y 025298(英国人)
A Y 025500(北欧人)
A Y 024881(英国人)
M 76270(アフリカ系米国人)
M 76264(東部ピグミー人)
M 76235(西部ピグミー人)
M 76236(西部ピグミー人)
M 76237(アフリカ系米国人)
A F254446(ネアンデルタール人・南ロシア)
A F282971(ネアンデルタール人・クロアチア)
A F011222(ネアンデルタール人・ドイツ)
0.010
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Genealogical tree of human mitochondrial DNA, 52 complete sequences
Africans
‡ Naruya Saitou, DNA kara Mita Nihonjin (The Japanese viewed from DNA), Chikuma Shinsho, 2005
Africans West Eurasians East Eurasians Meganesians (Sahul) Americans
A genealogical chart of mtDNA in the entire world (Ingman et al., 2000)
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Inferred Route of Human Diffusion from Africa Over Past 150,000 Years
‡ Naruya Saitou, DNA kara Mita Nihonjin (The Japanese viewed from DNA), Chikuma Shinsho, 2005
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Taiwan, the Philippines, Northeast China, Mongolia
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Genetic Relatedness of Pacific Rim Populations (Omoto and Saitou, 1997)
‡ Naruya Saitou, DNA kara Mita Nihonjin (The Japanese viewed from DNA), Chikuma Shinsho, 2005 Omoto K. and Saitou N. (1997) Genetic origins of the Japanese: A partial support for the "dual structure hypothesis". American Journal of Physical Anthropology, Vol. 102, No. 4, pp. 437-446.
Native North Americans Eskimos
Native Australians Papua New Guineans
Koreans Mongolians Main-island Japanese
Tibetans Ainu
Okinawans South Chinese
Thais Filipinos
Negritos (Mamanwa) Indonesians
Polynesians Micronesians
Negritos (Aeta)
Native South Americans
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1
2
3
4
5
6
‡
Migratory Routes to the Japanese Islands
DNA kara Mita Nihonjin
(The Japanese viewed from DNA)
Naruya Saitou, DNA kara Mita Nihonjin (The Japanese viewed from DNA), Chikuma Shinsho, 2005
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日 本 人
モ ン ゴ ル 族 1ホ イ 族
モ ン ゴ ル 族 2 カ ザ フ 族
モ ン ゴ ル 族 3 チ ベ ッ ト 族
韓 国 人漢 族 ( 北 京 )
漢 族 ( 徐 州 )
漢 族 ( 広 州 )漢 族 ( 広 西 )
ド ン 族チ ュ ア ン 族
ヤ オ 族
漢 族 ( 海 南 島 )
ミ ヤ オ 族 ( 海 南 島 )
リ ー 族 ( 海 南 島 )
北 方 の 集 団
南 方 の 集 団
Neighbor-Joining Tree for East Asian Populations with Focus on China, Based on HLA Data Tokunaga and Saitou (1988)
‡ Naruya Saitou, DNA kara Mita Nihonjin (The Japanese viewed from DNA), Chikuma Shinsho, 2005 Naruya Saitou, Katsushi Tokunaga (1998) HLA kougenkei kara Mita Nihonjin (The Japanese viewed from HLA), Iden (Heredity), Vol. 42, No. 10, pp. 40-46.
Mongolians 1
Kazakhs
Han (Xuzhou) Koreans Han (Beijing)
Northern populations Southern populations
Han (Guangxi) Han (Guangxu)
Dong Zhuang
Miao (Hainan) Yao
Han (Hainan)
Li (Hainan)
Japanese Hui
Mongolians 2
Mongolians 3 Tibetans
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Genetic Relatedness Estimated from Data on 10 Genes, Including ABO Blood Type Saitou (1994)
‡ Naruya Saitou, DNA kara Mita Nihonjin (The Japanese viewed from DNA), Chikuma Shinsho, 2005 Saitou N., Omoto K., Du C., and Du R. (1994) Population genetic study in Hainan Island, China. II. Genetic affinity analyses. Anthropological Science, Vol. 102, No. 2, pp. 129-147.
Hainan populations
Hainan Miao 1
Hainan Hui Thais
Hainan Han Filipinos Malaysians
Koreans
East Asian populations
Negritos
Hainan Li 2
Hainan Miao 2
Mongolians Japanese
Ainu
Zhuang
Fukien Han
Hainan Li 1
Javanese
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Genetic Relatedness among Four Populations in the Japanese Islands Area:
An Unrooted Genealogical Tree Omoto and Saitou (1997)
Ainu
Koreans
Japanese main
islands
Okinawans
Naruya Saitou, DNA kara Mita Nihonjin (The Japanese viewed from DNA), Chikuma Shinsho, 2005 Omoto K. and Saitou N. (1997) Genetic origins of the Japanese: A partial support for the "dual structure hypothesis". American Journal of Physical Anthropology, Vol. 102, No. 4, pp. 437-446.
‡
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本土日本人
韓国人
沖縄人
アイヌ人
Genetic Relatedness among Four Populations in the Japanese Islands Area: A Genealogical Network Saitou (2008)
Ainu
Koreans
Japanese main islands
Okinawans
Saitou N. (2008) Genetic Relationships of Human Populations in and around the Japanese Archipelago. In Matsumura S., Forster P. and Renfrew C. (eds.), "Simulations, genetics and human prehistory", McDonald Institute Monographs, Cambridge, pp. 89-92.
‡
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Your Genome Is . . .
You
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Mother Father
Your Genome Is . . .
You
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Grandmother Grandfather Grandmother Grandfather
Mother Father
Your Genome Is . . .
You
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Your Genome is Your Ancestral Fitness
Grandmother Grandfather Grandmother Grandfather
Mother Father
You
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Grandmother Grandfather Grandmother Grandfather
Mother Father
You
Your Genome is Your Ancestral Fitness
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Y染色体 ミトコンドリアDNA
Paternal grandfather
Mother Father Self
Maternal grandmother
Maternal grandfather
Paternal grandmother
Mitochondrial DNA Y chromosome
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Mitochondrial DNA Is Matrilineal
5 generations ago
4 generations ago
3 generations ago
2 generations ago
1 generation ago
Current generation
Next generation
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Human Mitochondrial DNA Genome
16,569 base pairs Circular double-strand DNA
Ribosomal RNA tRNA Cytochrome reductase NADH-Q reductase Cytochrome oxidase ATP synthase
Naruya Saitou, Genomu to Shinka – Genomu kara Tachinoboru Seimei (Genomes and Evolution – Life Ascendent from Genomes), Shin'yosha, 2004.
‡
Illustrations: Saori Yasutomi
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Gene Genealogy
突然変異
★
4N generations ago (expected value)
Mutation
Common ancestral gene
Now
2N generations (expected value)
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Nucleotide sequences compared (multiple alignment)
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Y Chromosome Haplotypes Present Only in Japanese Islanders
‡ Naruya Saitou, DNA kara Mita Nihonjin (The Japanese viewed from DNA), Chikuma Shinsho, 2005
Population
Buryats Nivkhi Japanese islanders (Ainu group) Japanese islanders (Honshu group) Japanese islanders (Kyushu group) Japanese islanders (Okinawa group) North Chinese Han South Chinese Han (Taiwan) Indigenous Taiwanese ("Takasago" mountain peoples)
Filipinos Thais Malaysians
Table 4-3 Gene frequency (%) in Y chromosome haplotypes among Asian populations, with a focus on the Japanese islands
* YAP+ haplotypes (those with the Alu insertion sequence), Tajima and Horai (2004)
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Data from Katsushi Tokunaga et al.
Leukocyte Blood-Type HLA Data
‡ Naruya Saitou, DNA kara Mita Nihonjin (The Japanese viewed from DNA), Chikuma Shinsho, 2005
Table 4-2 HLA haplotype frequencies compared Japanese
main islands Okinawans Ainu Buryats Chinese Manchurians Northern Han Koreans Chinese Koreans
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Microevolution and Inter-relatedness among Populations in the Japanese Islands DNA kara Mita Nihonjin (The Japanese viewed from DNA)
‡
Okhotsk culture
Hokkaido (Ainu)
Okinawans
Japanese main islands
Korean peninsula Mainland China
Now
Naruya Saitou, DNA kara Mita Nihonjin (The Japanese viewed from DNA), Chikuma Shinsho, 2005
1,000 yrs ago 3,000 yrs ago 10,000 yrs ago
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Entire human genome (3.2 billion nucleotides) ┃ ┣ーGenes and gene-related regions (1.2 billion nucleotides) ┃ ┣ーGenes (48 million nucleotides) <-- Just 1.5% of the whole ┃ ┗ーGene-related regions (1,152 million nucleotides) ┃ ┗ Regions between genes (2.0 billion nucleotides) ┣Dispersed repetitive sequences (1.4 billion nucleotides) ┃ ┣ーLong dispersed repetitive sequences LINE (640 million nucleotides) ┃ ┣ーShort dispersed repetitive sequences SINE (420 million nucleotides) ┃ ┗ーOther repetitive sequences SINE (340 million nucleotides) ┗Other intergenic regions (600 million nucleotides) ┣ーMicrosatellites (90 million nucleotides) ┗ーNon-microsatellites (510 million nucleotides)
‡ The International Chimpanzee Chromosome 22 Consortium [H.Watanabe, A.Fujiyama, M.Hattori, T. D.Taylor, A.Toyoda, Y.Kuroki, H.Noguchi, A.BenKahla, H.Lehrach, R.Sudbrak, M.Kube,S.Taenzer, P.Galgoczy, M.Platzer, M.Scharfe, G.Nordsiek, H.Blocker, I.Hellmann, P.Khaitovich, S.Paabo, R.Reinhardt, H.-J.Zheng,X.-L.Zhang, G.-F.Zhu, B.-F.Wang, G.Fu, S.-X.Ren9, G.-P.Zhao, Z.Chen, Y.-S.Lee, J.-E.Cheong, S.-H.Choi, K.-M.Wu, T.-T.Liu, K.-J.Hsiao, S.-F.Tsai, C.-G.Kim, S.Oota, T.Kitano, Y.Kohara, N.Saitou, H.-S.Park, S.-Y.Wang, M.-L.Yaspo, and Y.Sakaki] (2004) DNA sequence and comparative analysis of chimpanzee chromosome 22. Nature, vol. 429, No. 6990, pp. 382-388
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Microsatellite DNA Polymorphism
A)
B)
C)
= CTG, etc.
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Lee, Yamamoto, Katsumata, Saitou et al, 2006 Shi-Lin Li et al., Human Genetics vol.118, no.6, 695-707 (2006) ‡
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Studies Exploring Genetic Diversity among Five Populations of Han Chinese (International project in joint research with the Chinese Academy of Sciences [Beijing Institute of Genomics/Institute of Genetics and Developmental Biology])
‡
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Fukien province
Guangdong province Okinawa
Nagoya
Shanxi province
Hunan province
Beijing Bangkok (Thailand)
Yangon (Myanmar)
Britain
(Lee, Yamamoto, Saitou et al,2006; Human Genetics)
Estimate of Genetic Relatedness among Nine Asian Populations Resulting from Microsatellite DNA
Polymorphism
Shi-Lin Li et al., Human Genetics vol.118, no.6, 695-707 (2006) ‡
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Relationships between Japanese Islanders and Other Populations
Yamaguchi, Kamatani et al (2008)
Inserted here was deleted according to copyright issues.
Yamaguchi et al. The American Journal of Human Genetics, Volume 83, Issue 4, pages 445-456 (2008)
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Large-Scale SNP Analysis of Japanese Islanders
Yamaguchi, Kamatani et al (2008)
Inserted here was deleted
according to copyright issues.
Yamaguchi et al. The American Journal of Human Genetics, Volume 83, Issue 4, pages 445-456 (2008)
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Placement of Regional Residents (1) Yamaguchi, Kamatani et al (2008)
Inserted here was deleted
according to copyright issues.
Yamaguchi et al. The American Journal of Human Genetics, Volume 83, Issue 4, pages 445-456 (2008)
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Yamaguchi, Kamatani et al (2008)
Placement of Regional Residents (2)
Inserted here was deleted
according to copyright issues.
Yamaguchi et al. The American Journal of Human Genetics, Volume 83, Issue 4, pages 445-456 (2008)
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Interpreting SNP Analysis Results
Chinese cluster
Korean cluster?
Japanese main islands cluster
Ryukyus cluster
Tohoku population distribution
Mixed cluster A
Mixed cluster B
Mixed cluster C
? Saitou N. (2009) New Horizon of Human Genome Study, Anthropological Science. Vol.117, No.1, pp. 1-9.
‡
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Map of China
Later Han
Early Han Chin Warring States
Spring &Autumn Annals
Chou
Late Shang(Yin)
Early Shang
Hsia
Yangshao (Neolithic)
2000 yrs ago
3000 yrs ago
4000 yrs ago
Chinese Chronology
Lingshi
Yinxu(Anyang)
Central Plain
‡
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Genetic Relatedness between Two Populations in Ancient China and Modern Humans (Wang, Saitou, Ueda at al, 2000)
Wang et al., Molecular Biology and Evolution 17:1396-1400 (2000) ‡
Modern Central Asians
Turkish Uighurs
Mountain Kirghiz Altai
Modern Europeans
Welsh
Finns Germans
Icelandic
Portuguese
KaKazakhszakhs
Mongolians
Main-island Japanese
Koreans Ainu
Okinawa
Lingshi, Shandong province (modern)
Plains Kirghiz
Modern East Asians
Lingshi, Shandong province (Western Han- Eastern Han)
Lingshi, Shandong province
)
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Two Populations in Ancient China and Modern Populations Compared(Wang, Saitou, Ueda at al, 2000)
Wang et al., Molecular Biology and Evolution 17:1396-1400 (2000) ‡
1
3
6
1 4
9 1 1
1 2 1 7 1 8
1 6 1 3 1 0
1 9
5 4
7
8 2
1 5
0 1 2 - 1 - 2
0
1
- 1
Modern Europeans
Modern Central Asians
Modern East
2500 years ago
2000 years ago Now
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Earwax Inheritance Patterns Asians exhibit high frequencies of both moist and dry earwax. Moist is the dominant form of earwax. A single gene determines whether an individual's earwax is moist or dry. The gene determining earwax type is on an autosomal chromosome.
auricle
outer ear
middle ear
Inner ear
semicircular canal
cochlear nerve
cochlea
vestibular nerve
auditory canal
auditory ossicle
Ear canal
myrinx
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Population Differences in Earwax Allele Frequencies Omoto, Bunshi-jinruigaku to Nihonin no Kigen
‡ (Molecular Anthropology and the Origins of the Japanese) (1996)
Wet-type
dry-type
Japan Okinawa
African American
Choctaw
Navaho Papago
Quechua Kuna
Hainan
North China
Menggu Tungus
Korea
Aynu Aleutian Islands
Mayan
South China
White American
North American Indian
Nootka
Melanesia
Micronesia Taiwan
Shuw
Ampon
Aborigine
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A Short History of Earwax-Type Studies
Buntaro Adachi
1930s: Buntaro Adachi (Kyoto Imperial University Faculty of Medicine) produces scientific studies of earwax types. 1960s: Ei Matsunaga (Sapporo Medical University/National Institute of Genetics) confirms inheritance patterns in earwax types. 2002: Tomita, Shinkawa et al (Nagasaki University) specify the position of the earwax-type gene in the human genome. 2006: Yoshiura, Shinkawa (Nagasaki University) et al identify the earwax-type gene. Ei Matsunaga
‡Photo provided by:National Institute of Genetics
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How to Infer Where a Disease-Related Gene Is Located on a Chromosome (Genetic linkage analysis)
B 1 3
B 2 4
B 1 4
B 2 3
b 1 3 E
病 気 の 原 因 遺 伝 子 b と も と の 遺 伝 子
病 気 遺 伝 子 に 近 い 遺 伝 子 ( 1 , 2 )
病 気 遺 伝 子 か ら 遠 い 遺 伝 子 ( 3 , 4 )
A
B C D
Disease-causing gene b and original gene B
Genes (1 and 2) near the disease gen
Genes (3 and 4) distant from the disease gene
Mutation
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Splice so that only the gene b-1 combination remains
A
B
C
D
Genes (3 and 4) distant from the disease gene
F
Splice
E
Disease-causing gene b and original gene B
Genes (1 and 2) near the disease gen
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Chromosome number 16
16p11.2
16q12.1
Mapped region
D16S3093
D16S3080
Pedigree Analysis with a Microsatellite DNA Polymorphism
(Tomita et al. 2002, Lancet)
~ 7.42 cM
Inserted here was deleted
according to copyright issues.
Tomita et al. The Lancet Volume 359, Issue 9322, Pages 2000-2002 (2002)
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Yoshiura et al (2006) Reprinted by permission from Macmillan Publishers Ltd: A SNP in the ABCC11 gene is the determinant of human earwax type Nature Genetics 38, 324 - 330, copyright (2006)
‡
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Dry (function-less) resulted from moist (functional) with modification of a single amino acid
Moist protein (glycine)
Dry protein (arginine)
No protein
Differences in the Function of ABCC11 Gene Product Are the Cause of the Differences in Earwax
Yoshiura et al (2006)
Yoshiura et al (2006)
Reprinted by permission from Macmillan Publishers Ltd: A SNP in the ABCC11 gene is the determinant of human earwax type Nature Genetics 38, 324 - 330, copyright (2006)
‡
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Yoshiura et al., (2006)
Distribution of Earwax Alleles ●:Moist ○:Dry
Reprinted by permission from Macmillan Publishers Ltd: A SNP in the ABCC11 gene is the determinant of human earwax type Nature Genetics 38, 324 - 330, copyright (2006)
‡
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A single-nucleotide polymorphism in the ABCC11 gene is the determinant of human earwax type Koh-ichiro Yoshiura1,2, Akira Kinoshita1,2, Takafumi Ishida3, Aya Ninokata3,Toshihisa Ishikawa4, Tadashi Kaname2,5, Makoto Bannai6, Katsushi Tokunaga6, Shunro Sonoda7, Ryoichi Komaki8, Makoto Ihara9, Vladimir A. Saenko10, Gabit K. Alipov11, Ichiro Sekine11, Kazuki Komatsu12, Haruo Takahashi12, Mitsuko Nakashima1,2,13, Nadiya Sosonkina1,2, Christophe K. Mapendano1,2, Mohsen Ghadami1,2, Masayo Nomura1,2,14, De-Sheng Liang2,15, Nobutomo Miwa1,2, Dae-Kwang Kim16, Ariuntuul Garidkhuu17, Nagato Natsume17, Tohru Ohta2,18, Hiroaki Tomita19, Mihoko Kikuchi20, Graciela Russomando21, Kenji Hirayama20; Minaka Ishibashi22, Aya Takahashi22, Naruya Saitou22, Jeffery C. Murray23, Susumu Saito24, Yusuke Nakamura24,25, & Norio Niikawa1,2
Nature Genetics (2006)
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Ainu-Language Place Names in Hokkaido
• Sapporo • Wakkanai • Noboribetsu • Ebetsu • Monbetsu • Nakashibetsu
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Ainu-Language Place Names in Tohoku
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Ainu-Language Place Names in Tohoku
Tomabechi
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Ainu-Language Place Names in Tohoku
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Ainu-Language Place Names in Tohoku
Mabuchi
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“ Sanesashi, Sagamu country's little moor
was burning Ah thou whom I inquired of,
standing in the midst of the flames of the fire ”
-- Princess Oto-tachibana
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Geographic Distribution of Indo-European Languages Source:http://upload.wikimedia.org/wikipedia/commons/3/33/Indo-European_Groups_World_Distribution.gif
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Indo-European Language Family Tree Gray & Atkinson (2004)
‡ Naruya Saitou, DNA kara Mita Nihonjin (The Japanese viewed from DNA), Chikuma Shinsho, 2005
Gaelic
Limba
Spanish French
Breton Welsh
Portuguese Brazilian Portuguese
Italian Catalan
Latvian Lithuanian
Sardinian
English
Slovene
Swedish Icelandic Danish
Dutch German
Macedonian Bulgar
Serbo-Croatian
Ukrainian Slovak Czech
Polish Russian
Afrikaans
Lausitz
Byelorussian
Romani Sinhala Marathi
Gujarati
Hindi
Banjar
Nepali Bengali
Cascara
Albanian Afghan
Persian
Dutch
Greek Armenian
Tocharian languages Hittite
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Which Language or Lanugage Family is Closest to Japanese?
• Korean: Hakuseki Arai, Kurakichi Shiratori, Shiro Hattori, A. Vovin, Katsumi Matsumoto,
others • Ainu: Shiro Hattori, Biden Yasumoto, Katsumi Matsumoto, Takeshi Umehara, others • Koguryo (dead language): Lee Ki-moon, Shichiro Murayama, C. Beckwith, Yoshizo Itabashi, others • Altaic language family: Katsuji Fujioka, Kyosuke Kindaichi, R.A. Miller, S.A. Starostin, others • Austronesian language family: Izuru Shinmura, Hisanosuke Izui, Shichiro Murayama, Takao Kawamoto, others
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チュルク語
日本語韓国語
満語ツングース語
?
モンゴル語
Comparison of Basic Lexical Terms in Five Altaic Proto-Languages
(Vovin, 2003) Japanese proto-language–Korean proto-language: Bone, hair, moon, fire, cloud, water, leg Japanese proto-language–Korean proto-language–Manchurian Tungusic proto-language: Water, leg Japanese proto-lanugage–Mongolian proto-language: Blood Korean proto-language–Manchurian Tungusic proto-language: Nose Turkic proto-language–Other proto-language: None
Japanese Korean
Manchurian
Tungusic
Mongolian Turkic
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Linguistic lineage network of languages in the vicinity of the Japanese islands based on initial-consonant matching patterns in 100 basic lexical terms collected by Yasumoto and Honda (1978) From DNA kara Mita Nihonjin (The Japanese viewed from DNA)
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Modern Tokyo dialect
Middle Korean
3
15
Modern Okinawan dialect
Naruya Saitou, DNA kara Mita Nihonjin (The Japanese viewed from DNA), Chikuma Shinsho, 2005
Nara-era Japanese
Modern Ainu
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Quoted in Naruya Saitou, "Jinshu Yo Saraba" (A Farewell to Race), collected in Yasuko Takezawa, ed., Jinshu Gainen no Fuhensei wo Tou (Is Race a Universal Idea?) (Jinbun Shouin, 2005) In J.D. Salinger's Raise the Roofbeam High, Carpenters, Zooey says: "He said he even wished everybody in the world looked exactly alike. He said you'd keep thinking everybody you met was your wife or your mother or father, and people would always be throwing their arms around each other wherever they went, and it would look 'very nice'."
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Jinshu Yo Saraba, Minzoku Yo Saraba (A Farewell to Race, A Farewell to Ethnicity) (Saitou, Minzoku-gaku Kenkyuu: 1997)
"'Nihonjin' ga Kieru Toki" (When the "Japanese" Disappear) (Saitou, in DNA kara Mita Nihonjin [The Japanese viewed from DNA], 2005
Tairiku kara no Michi, Tairiku he no Yume (The Road the Continent, Dreams of the Continent) (Saitou, Gakushi Kaiho: 2006)
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Source:http://chikyu-to-umi.com/n-con/N-con-gallery-2007rid-b1-1.html ‡
Work no.: B1-1
Location: Osaka prefecture
Designer: Rid
Affiliation: Osaka College of Art, Osaka University of Arts
Designer's comments: Marinites was originally one of the Seagull coalition of city-states that proclaimed their independence after forming the coalition of Pacific Ocean megafloat cities in 2129. The structure comprises a built-up area resting on half-submerged floats and an airport island constructed likewise and linked to it by bridge, as well as an atoll encircled with giant embankments to prevent submersion due to global warming. Originally constructed as a marine technologies research facility, Marinites hosts many technical research facilities, shipyards and other industrial plant. Residential units for their employees' families are attached to their workplaces and zoned accordingly. Inherent to the city are its large hydrogen plant and wave- and wind-power generators that even permit it to export energy. Unlike other megafloat cities, Marinites is linked to a natural island by bridge and so enjoys its own supply of natural foods to complement those produced in its factories and megafloats, making it completely self-sufficient. The city held fast to its neutrality during the Fourth Great War, when it took in large numbers of refugees. To accommodate these new residents, the city constructed new megafloats and embankments, enlarged its capacity and conducted maintenance works to achieve the configuration seen now in 2200.
Support Category
A Floating City-State: Marinites
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The Japanese viewed from DNA,
by Naruya Saitou Chikuma Shinsho
Published March 2005
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