1764 Evolution: Chu et al Proc. Natl. Acad. Sci. USA 95(1998) Table 1. Chinese populations sampled in the current study 1 Aini Sino- Tibetan Southwest Yunnan South Central Yunnan Daic 4 Deang Southwest Yunnan Sino- Tibetan Tibeto-Burman 5 Don Kam-Sui 6 Ewenki Heilongjiang Altaic 7 Han( Guangdong) California, U.S. Sino- Tibetan 8 Han(Henan Sino- Tibetan Han(Northern) Beijin Sino- Tibetan 10 Han (Yunnan) Sino- Tibetan 11 Hui(Muslims) Sino- Tibetan 12 Jingpo Tibeto-Burman 13 Korean Isolate 14 Lahu Southwestern yunnan Sino- Tibetan Tibeto-Burman 15 Hainan Kadai 16 Manchu heilongjiang Altaic Tungus 17 She Ho Nte 18 Tibetan Tibet mong-Micn Tibeto-Burman Hunan Sino- Tibetan Tibeto-Burman 901234 Altaic Turkic Southwest yunnan Mon-Khmer Yao(Puno) Yao (Jinxiu) Sino-Tibetan Tibcto.Burma Taiwan aboriginies Taiwan 26 Atayal Paiwan Taiwan Austronesian formosan Austronesian available. A program, Dsw, written by T. Ota, was used to are Taiwanese Aborigines speaking Austronesian languages reconstruct phylogeny. Bootstrap values were obtained based However, this phylogeny provides validation for our current on 500 replications. African population lineage was used to approach, given the fact that the relationship among world root the phylogeny based on the result of Bowcock et al.( 8) wide populations is identical to that presented in Bowcock et In Fig. 1A, microsatellites analyzed are DIS484, D2$434 D3S1768, D6S1009, D7S493, D10S537, D12S101, D12S373, set of markers, but some populations analyzed in this study D13s126.D15S101.D15S102.D15S230.D16S508.D16S667 D17S1824,D18S465,D19s152,D19S210,D19s414,D19S420, were included in Bowcock et al.(Cambodian, Karitiana, Mayan, Australian, New Guinean, Italian, Zaire Pygmy, Cen- DI9S601, D20S100, D20S115, D20S118, D20S171, D20S471, tral Republic Pygmy, and Lissongo). Populations from East D21S1435, D22S1158, HLIP, and UTSW1523 In this phylog- Asia form a distinctive cluster indicating a common ancestry eny, populations and loci were selected to maximize the shared among those groups. Taiwanese Aborigines popula number of loci in the analysis. Eight Chinese populations were tions derived from the southern population cluster from the included in Fig. 1A. They are Han from Yunnan, Han from continent, indicating the probable origin of those populations Guangdong, Manchurian, Jingpo, Deang, Atayal, Yami, and and probably polynesians Paiwan The distinction between southern populations and northern In Fig. 1B, microsatellites analyzed are DIS484, D2S434, populations was noticeable but far less clear when 16 more D7S493, D10S537, D12S373, D16S667, D17S1824, D19S152, Chinese populations were added, producing the phylogeny D19S210, D19S414, D19$420, D20S100, D20S115, D20S171, presented in Fig. 1B. The number of loci was reduced to 15 due nd D21S1435. In this phylogeny, most representative popu- to incomplete data for some loci. Again, the populations from lations in each region were selected and the loci are selected East Asia were derived from the same lineage whenever their allele frequency information is available across In Fig. 1B, two clusters for the northern populations are those populations. Sixteen more Chinese populations were discernible. Altaic language-speaking Buryat, Yakut, Uyghur, added for the analysis presented in Fig. 1B. They are Uyghur, and Manchu clustered with the Korean and Japanese, two Han(Northern) from Beijing, Wa, Tujia, Tibetan, Hui, language isolates but closely related to Altaic. Two Han Ewenki, Yao speaking Punu, Yi, She, Yao from Jinxiu, Han populations, one from north China and the other from Yun- from Henan, Dong, Li, Lahu, Dai, Blang, Aini, and Ami. nan, also contributed to this cluster (cluster N1). Another Altaic language ng population, Ewenki, formed a clus- RESULTS ter(cluster N2) with Tibetan, Tujia, and Hui, all of which were originally derived from the northern populations though cur- The phylogeny based on 30 microsatellites(Fig 1A rently living in the western part of China(21) a clear distinction between southern and northern Populations of southern origin formed three clusters In the populations, although the number of Chinese po first south cluster(S1), Blang, an Austro-Asiatic population, included in this phylogeny is small. Three northern Chinese grouped with Deang, Aini, Lahu, and Dai, all sampled from populations clustered with the Japanese and Korean as ex- the southwest part of Yunnan. This lineage then clustered with pected. The southern populations in this phylogeny are not three populations from Taiwan(Paiwan, Atayal, and Yami), epresentative because three of the five southern populations probably reflecting the origin of Taiwanese Aborigines andavailable. A program, Dsw, written by T. Ota, was used to reconstruct phylogeny. Bootstrap values were obtained based on 500 replications. African population lineage was used to root the phylogeny based on the result of Bowcock et al. (8). In Fig. 1A, microsatellites analyzed are D1S484, D2S434, D3S1768, D6S1009, D7S493, D10S537, D12S101, D12S373, D13S126, D15S101, D15S102, D15S230, D16S508, D16S667, D17S1824, D18S465, D19S152, D19S210, D19S414, D19S420, D19S601, D20S100, D20S115, D20S118, D20S171, D20S471, D21S1435, D22S1158, HLIP, and UTSW1523. In this phylog￾eny, populations and loci were selected to maximize the number of loci in the analysis. Eight Chinese populations were included in Fig. 1A. They are Han from Yunnan, Han from Guangdong, Manchurian, Jingpo, Deang, Atayal, Yami, and Paiwan. In Fig. 1B, microsatellites analyzed are D1S484, D2S434, D7S493, D10S537, D12S373, D16S667, D17S1824, D19S152, D19S210, D19S414, D19S420, D20S100, D20S115, D20S171, and D21S1435. In this phylogeny, most representative popu￾lations in each region were selected and the loci are selected whenever their allele frequency information is available across those populations. Sixteen more Chinese populations were added for the analysis presented in Fig. 1B. They are Uyghur, Han (Northern) from Beijing, Wa, Tujia, Tibetan, Hui, Ewenki, Yao speaking Punu, Yi, She, Yao from Jinxiu, Han from Henan, Dong, Li, Lahu, Dai, Blang, Aini, and Ami. RESULTS The phylogeny based on 30 microsatellites (Fig. 1A) revealed a clear distinction between southern and northern Chinese populations, although the number of Chinese populations included in this phylogeny is small. Three northern Chinese populations clustered with the Japanese and Korean as ex￾pected. The southern populations in this phylogeny are not representative because three of the five southern populations are Taiwanese Aborigines speaking Austronesian languages. However, this phylogeny provides validation for our current approach, given the fact that the relationship among world￾wide populations is identical to that presented in Bowcock et al. (8). The latter was derived by using a completely different set of markers, but some populations analyzed in this study were included in Bowcock et al. (Cambodian, Karitiana, Mayan, Australian, New Guinean, Italian, Zaire Pygmy, Cen￾tral Republic Pygmy, and Lissongo). Populations from East Asia form a distinctive cluster indicating a common ancestry shared among those groups. Taiwanese Aborigines popula￾tions derived from the southern population cluster from the continent, indicating the probable origin of those populations and probably Polynesians. The distinction between southern populations and northern populations was noticeable but far less clear when 16 more Chinese populations were added, producing the phylogeny presented in Fig. 1B. The number of loci was reduced to 15 due to incomplete data for some loci. Again, the populations from East Asia were derived from the same lineage. In Fig. 1B, two clusters for the northern populations are discernible. Altaic language-speaking Buryat, Yakut, Uyghur, and Manchu clustered with the Korean and Japanese, two language isolates but closely related to Altaic. Two Han populations, one from north China and the other from Yun￾nan, also contributed to this cluster (cluster N1). Another Altaic language-speaking population, Ewenki, formed a clus￾ter (cluster N2) with Tibetan, Tujia, and Hui, all of which were originally derived from the northern populations though cur￾rently living in the western part of China (21). Populations of southern origin formed three clusters. In the first south cluster (S1), Blang, an Austro-Asiatic population, grouped with Deang, Aini, Lahu, and Dai, all sampled from the southwest part of Yunnan. This lineage then clustered with three populations from Taiwan (Paiwan, Atayal, and Yami), probably reflecting the origin of Taiwanese Aborigines and Table 1. Chinese populations sampled in the current study Population Location Language family Language subfamily 1 Aini Southwest Yunnan Sino-Tibetan Tibeto-Burman 2 Blang Southwest Yunnan Austro-Asiatic Mon-Khmer 3 Dai South Central Yunnan Daic Daic 4 Deang Southwest Yunnan Sino-Tibetan Tibeto-Burman 5 Dong Guangxi Daic Kam-Sui 6 Ewenki Heilongjiang Altaic Tungus 7 Han (Guangdong) California, U.S. Sino-Tibetan Chinese 8 Han (Henan) Henan Sino-Tibetan Chinese 9 Han (Northern) Beijing Sino-Tibetan Chinese 10 Han (Yunnan) Yunnan Sino-Tibetan Chinese 11 Hui (Muslims) Ningxia Sino-Tibetan Chinese 12 Jingpo Western Yunnan Sino-Tibetan Tibeto-Burman 13 Korean Jilin Isolate 14 Lahu Southwestern Yunnan Sino-Tibetan Tibeto-Burman 15 Li Hainan Daic Kadai 16 Manchu Heilongjiang Altaic Tungus 17 She Fujian Hmong-Mien Ho Nte 18 Tibetan Tibet Sino-Tibetan Tibeto-Burman 19 Tujia Hunan Sino-Tibetan Tibeto-Burman 20 Uyghur Xinjiang Altaic Turkic 21 Wa Southwest Yunnan Austro-Asiatic Mon-Khmer 22 Yao (Puno) Guizhou Hmong-Mien Hmongic 23 Yao (Jinxiu) Guangxi Daic Kam-Sui 24 Yi Sichuan Sino-Tibetan Tibeto-Burman Taiwan Aboriginies 25 Ami Taiwan Austronesian Formosan 26 Atayal Taiwan Austronesian Formosan 27 Paiwan Taiwan Austronesian Formosan 28 Yami Lanyu Austronesian Malayo-Polynesian 11764 Evolution: Chu et al. Proc. Natl. Acad. Sci. USA 95 (1998)