Fig. 2. Frequency distributions of the eight Y-chromosome haplotypes for the 14 global populations, with their approximate geographic locations. The frequencies of the eight haplotypes are shown as colored pie charts (for color codes, see upper left insert). JP =Japanese. Han=Chinese
Only four Japanese populations exhibited ht1 (defined only by YAP+) at various frequencies (also see Table 1). The highest frequency (87.5%) was found in JP-Ainu, followed by JP-Okinawa (55.6%) living in the southwestern islands of Japan, JP-Honshu (36.6%), and JP-Kyushu (27.9%). The ht2 haplotype (defined by YAP+/M15+) was found in only two males, one each from Thais and Thai-Khmers; ht3 (defined by YAP+/SRY4064-A) was completely absent in the Asian populations examined, whereas Jewish in the Uzbekistan and African populations had this haplotype with a frequency of 28.3% and 100%, respectively. Thus, the YAP+ lineage was found in restricted populations among Asian populations, consistent with previous reports (Hammer and Horai 1995; Hammer et al. 1997; Shinka et al. 1999).
The ht4 haplotype (defined only by M9-G) was widely distributed among north, east, and southeast Asian populations, except for the Ainu. This haplotype was frequent (60.5%) in overall Asian populations (Table 1). Among them, the Han Chinese and southeast Asian populations were characterized by high frequencies ranging from 81.0% to 96.0%. In contrast to ht4, ht5 (defined by M9-G/DYS257108-A) and ht6 (defined by M9-G/DYS257108-A/SRY10831-A) were small contributors to Asian populations. The highest frequency of ht5 was observed in Nivkhi (19.0%) and that of the ht6 in Thai-Khmers (10.8%). The ht5 haplotype is widely distributed among European, Asian, and Native American populations and is proposed to be one of the candidates for founder haplotypes in the Americas (Karafet et al. 1999). Furthermore, high frequencies of ht6 were observed in north Europe, central Asia, and India (Karafet et al. 1999). Thus, the presence of ht5 in Nivkhi may account for the founder effect of peopling of the Americas.
The ht7 haplotype (defined by RPS4Y-T) was also widely distributed throughout Asia with the exceptions of Malaysia and the Philippines, whereas this was absent in two non-Asian populations. The highest frequency of ht7 was found in Buryats (83.6%), followed by Nivkhi (38.1%). Thus, the geographic distribution of ht7 in Asia appears to contrast with that of ht4.
Only eight individuals (1.4%) in Asia belonged to ht8, which was the major haplotype in Jewish population (Table 1). The ht8 haplotype may not be useful for inferring population relatedness among Asian populations because it is defined by no mutations. Additional Y-polymorphic markers such as M89 and M168 (Underhill et al. 2000; Ke et al. 2001) will be needed to investigate details of the formation of modern Asian population.
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