Genetic features of Mongolian ethnic groups revealed by Y-chromosomal analysis

Katoh, Takahiko; Munkhbat, Batmunkh; Tounai, Kenichi; Mano, Shuhei; Ando, Harue; Oyungerel, Ganjuur; Chae, Gue Tae; Han, Huun; Jia, Guan Jun; Tokunaga, Katsushi; Munkhtuvshin, Namid; Tamiya, Gen; Inoko, Hidetoshi

doi:10.1016/j.gene.2004.10.023

Cited by 45 publications

(53 citation statements)

References 22 publications

(41 reference statements)

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“…The D clade is rare in Asian populations other than in Japan and Tibet (Underhill et al 2000(Underhill et al , 2001Tajima et al 2002;Jin et al 2003;Deng et al 2004;Katoh et al 2005;Hammer et al 2006). Available data also indicate that D*(·D2), but not D2, occurs in Tibet (Deng et al 2004;Hammer et al 2006).…”

Section: Discussionmentioning

confidence: 99%

“…As proposed by Underhill et al (2001) and Hammer et al (2006), genetic drift is the most likely factor underlying the distribution of haplogroup D (including derived ones) in Asia. Molecular studies have proposed that haplogroup D entered Japan approximately 12,000-20,000 years ago from central Asia (Hammer et al 2006;Katoh et al 2005), probably brought by the Jomon, the first colonizers of the Japanese islands. Among the ancestral Jomon Y chromosomes there was probably a D2 haplogroup carrier.…”

Section: Discussionmentioning

confidence: 99%

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Study of AZFc partial deletion gr/gr in fertile and infertile Japanese males

et al. 2006

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A recurrent partial azoospermia factor C (AZFc) deletion, called gr/gr, has been reported to be a male infertility risk factor. A specific type of Y chromosome observed in approximately 30% of Japanese males (haplogroup D derived at YAP+) is believed to have a fixed gr/gr deletion. A recent study claimed that spermatogenic failure is more likely in males with D Y chromosomes, because of the gr/gr deletion, the presence of which is not well characterized among D haplogroup chromosomes. We therefore decided to perform a systematic study of the frequency of the gr/gr deletion in the Japanese. We studied fertile and infertile males to investigate the possibility of different gr/gr frequencies. The deletions were detected by use of single tagged-sequences (STSs) and the D haplogroup sub-lineages typing were done by use of the biallelic markers M174, M64, M116.1, 12f2.2, M15, M151, and M125. Analysis of gr/gr deleted Y chromosomes showed that all are classified as haplogroup D2, suggesting a lineage association. The subtype D2b1 was most frequent among the Japanese, in control and infertile samples. The haplogroups D2b2, D*, and D1 were not found in any population group. Remarkably, we observed no statistical difference between haplogroup D sub-lineages of the infertile and control groups, although the statistical power of this study is low. This study suggests lack of significant evidence of increased infertility risk in haplogroup D Japanese males. We were also able to establish the ancestral chromosome that suffered a gr/gr deletion, and propose a new Y chromosome phylogeny for haplogroup D and its derivatives. In summary, we were able to define the frequency of gr/gr deletion in Japanese males and show that the gr/gr deletion was probably present in the ancestral Y chromosome that entered Japan at least 12,000 years ago.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Study of AZFc partial deletion gr/gr in fertile and infertile Japanese males

et al. 2006

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“…Some specific cases of the "star clusters" were revealed and proposed that these clusters have spread by social selection of the likely patrilineal descent of Genghis Khan (Zerjal et al, 2003), Giocangga (the grandfather of Manchu leader Nurhaci) (Xue et al, 2005), and the semi-mythological dynasty of early medieval Ireland (the Ui Neill) (Moore et al, 2006). Because O2b-SRY+465 (which is carried by the "star cluster" in this study), is unusually frequent in Manchu (34%, 34 of 101), Korean Chinese (48%, 38 of 79) and Korean (33%, 28 of 85), but the rarity in the northern Han (0%, 0 of 42) (Katoh et al, 2005), the occurrence of O2b-SRY+465 in the peninsula may have been caused by a population expansion probably associated with the ethnohistoric events, rather than recurrent gene flow from China.…”

Section: Haplotypes Shared Within Each Local Population 20 (45) 7 (19mentioning

confidence: 62%

A preliminary study on the origin of Koreans based on Y-STR variation

Kim

Chun

Jung³

et al. 2010

Genes Genom

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“…Previous studies have suggested that there are relatively low regional differences among Mongolian populations (Kolman et al, 1996;Chimge and Batsuuri, 1999). However, a recent genetic study using the Y chromosome (Katoh et al, 2005) revealed that the major Mongolian ethnic groups have a relatively close genetic affinity to populations in the northern part of East Asia, whereas the Khoton population reflected an apparent genetic differentiation from the other Mongolian populations. Furthermore, another genetic study using the X chromosome (Katoh et al, 2002) revealed that the Khoton population had an extremely long range of background linkage disequilibrium compared to those of the other East Asian populations.…”

Section: Introductionmentioning

confidence: 95%

“…Among the individuals examined here, 244 were Khoton (38), Khalkh (87), Uriankhai (59), and Zakhchin (60), thus representing four different ethnic groups in Mongolia (Munkhbat et al, 1997;Katoh et al, 2002Katoh et al, , 2005. As control populations, we also examined samples from 90 Manchu, 51 Northern Han, 88 Korean, 120 Japanese, 50 European American, and 17 African American males.…”

Section: Population Samplesmentioning

confidence: 99%