Phylogeographic analysis of mtDNA variation in four ethnic populations from Yunnan Province: new data and a reappraisal

Yao, Yong‐Gang; Zhang, Yaping

doi:10.1007/s100380200042

Cited by 65 publications

(64 citation statements)

References 15 publications

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“…A homology search (BLAST search) was conducted using the mtDNA data samples obtained from the East-Asian populations in [59][60][61][62][63][64][65][66][67][68][69][70][71][72] The sequence type of individual no. 913 did not correspond to that of the modern East-Asian populations.…”

Section: Resultsmentioning

confidence: 99%

Mitochondrial DNA analysis of Yayoi period human skeletal remains from the Doigahama site

et al. 2009

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We analyzed the mitochondrial DNA extracted from 14 human skeletal remains from the Doigahama site in Japan to clarify the genetic structure of the Doigahama Yayoi population and the relationship between burial style and kinship among individuals. The sequence types obtained in this study were compared with those of the modern Japanese, northern Kyushu Yayoi and ancient Chinese populations. We found that the northern Kyushu Yayoi populations belonged to the groups that include most of the modern Japanese population. In contrast, most of the Doigahama Yayoi population belonged to the group that includes a small number of the modern Japanese population. These results suggest that the Doigahama Yayoi population might have contributed less to the formation of the modern Japanese population than the northern Kyushu Yayoi populations. Moreover, when we examined the kinship between individuals in the Doigahama site, we found that the vicinal burial of adult skeletons indicated a maternal kinship, although that of juvenile skeletons did not. The vicinal burial style might have been influenced by many factors, such as paternal lineages, periods and geographical regions, as well as maternal lineages. In addition, skeletons considered to be those of shamans or leaders had the same sequence types. Their crucial social roles may have been inherited through maternal lineage.

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Section: Resultsmentioning

confidence: 99%

Mitochondrial DNA analysis of Yayoi period human skeletal remains from the Doigahama site

et al. 2009

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“…To identify the origins and genetic relatedness of the nine study communities, the Y-chromosome and mtDNA data were separately analyzed by summary statistic and phylogenetic methods (Wang et al, 2003;Black et al, 2006). Broad haplogroups were inferred from Y-chromosome binary polymorphisms according to the Y Chromosome Consortium (YCC 2002), while mtDNA haplogroups were inferred from HV1 sequences (Yao and Zhang, 2002). Genetic distances were calculated from Y-chromosome microsatellite data (dm 2 distance) with the software package MICROSAT, while mtDNA genetic distances (Tamura-Nei distance) were calculated with MEGA3 software.…”

Section: Genome-based Studies On the Relationship Between Chinese Ethmentioning

confidence: 99%

Physical Anthropology and Ethnicity in Asia: The Transition from Anthropometry to Genome-based Studies

Bittles

Black

Wang

2007

J Physiol Anthropol

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Initial physical anthropology studies into ethnic diversity were largely dependent on comparative whole body and craniometric measurements, and through time assessments of ethnic diversity based on these measures exhibited increasing statistical sophistication. Since the 1990s, in Asia as elsewhere in the world, human diversity studies have increasingly utilized DNA-based analyses, with Y-chromosome and mtDNA markers providing complementary perspectives on the origins and gene pool structures of different ethnic groups. This approach is illustrated in a study of population genetic structure in PR China, in which DNA samples from the Han majority and eight ethnic minorities were analyzed. The Ychromosome and mtDNA data showed multiple paternal geographical and ethnic origins but restricted maternal ancestries. However, interpretive problems were apparent in the definition of a number of the ethnic study populations, which appear to reflect political as well as genetic influences. In all anthropological studies, whether based on anthropometry or genomic analysis, unambiguous and appropriate community identification is a prerequisite.

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“…All of the individuals were confirmed to be unrelated before sampling and were given informed consent. To better understand the phylogeny of haplogroup F2, the previously reported data sets (Yao et al 2000(Yao et al , 2002a(Yao et al ,c, 2003Tsai et al 2001;Kivisild et al 2002;Oota et al 2002;Yao and Zhang 2002;Kong et al 2003a;Tajima et al 2003) were also included. As a result, a total of 3,090 mtDNAs from 57 populations across China were examined, and their detailed information was illustrated in Table 1.…”

Section: Samplingmentioning

confidence: 99%

“…The haplogroup status was further confirmed by detecting additional variations in other regions as described in our previous studies (Yao et al 2002aKong et al 2003a). A segment covering region 10171-10659 of the rCRS, which was suggested to be informative in defining East Asian specific haplogroups (Yao et al 2002a), was adopted to specify the phylogenetic status of the F* or R9* mtDNAs (the asterisk attached to haplogroups indicates that the sample was not able to be further classified into the sub-clade(s) of the haplogroup) in our previous studies (Yao et al 2000(Yao et al , 2002a(Yao et al ,c, 2003Yao and Zhang 2002;Kong et al 2003a) and unpublished data. For those published data sets (not from our laboratory) with only HVS-I and/or HVS-II information available, we recognized the potential F2 types by matching and/or near-matching with the identified F2 types that have been tested for coding region information.…”

Section: Data Analysesmentioning

confidence: 99%

“…The nucleotide change was originally detected in two mtDNAs (GD7809 and QD8147) when we systematically surveyed mtDNAs belonging to all the major haplogroups specific to East Asian by complete mtDNA sequencing (Kong et al 2003b). To substantiate whether the T12338C change is specific to haplogroup F2 and to learn more about the origin of haplogroup F2, we performed an extensive search for F2 in more than 3,000 Chinese mtDNAs in reported studies (Yao et al 2000(Yao et al , 2002a(Yao et al ,c, 2003Tsai et al 2001;Kivisild et al 2002;Oota et al 2002;Yao and Zhang 2002;Kong et al 2003a;Tajima et al 2003) and our unpublished data by motif-searching and/or (near-)matching methods (Yao et al 2002a. Our phylogeographic study revealed that the T12338C change was specific to haplogroup F2 and occurred in normal individuals across China, thus suggesting a polymorphic change rather than a pathogenic mutation.…”

Section: Introductionmentioning

confidence: 99%

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Phylogeographic analysis of mitochondrial DNA haplogroup F2 in China reveals T12338C in the initiation codon of the ND5 gene not to be pathogenic

et al. 2004

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In this report, we studied on a homoplasmic T12338C change in mitochondrial DNA (mtDNA), which substituted methionine in the translational initiation codon of the NADH dehydrogenase subunit 5 gene (ND5) with threonine. This nucleotide change was originally identified in two mtDNAs belonging to haplogroup F2 by our previous complete sequencing of 48 mtDNAs. Since then, a total of 76 F2 mtDNAs have been identified by the variations occurring in the hypervariable segments and coding regions among more than 3,000 individuals across China. As the T12338C change was detected in 32 samples representing various sub-clades of the F2 haplogroup while not in 14 non-F2 controls, we believe that the T12338C change is specific to the F2 haplogroup. As F2 and its sub-clades were widely distributed in normal individuals of various Chinese populations, we conclude that T12338C is not pathogenic. In addition, based on the average distribution frequency, haplotype diversity and nucleotide diversity of haplogroup F2 in the populations across China, the T12338C nucleotide substitution seems to have been occurred in north China about 42,000 years ago. Our results provided a good paradigm for distinguishing a polymorphic change from a pathogenic mutation based on mtDNA phylogeny.

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Phylogeographic analysis of mtDNA variation in four ethnic populations from Yunnan Province: new data and a reappraisal

Cited by 65 publications

References 15 publications

Mitochondrial DNA analysis of Yayoi period human skeletal remains from the Doigahama site

Mitochondrial DNA analysis of Yayoi period human skeletal remains from the Doigahama site

Physical Anthropology and Ethnicity in Asia: The Transition from Anthropometry to Genome-based Studies

Phylogeographic analysis of mitochondrial DNA haplogroup F2 in China reveals T12338C in the initiation codon of the ND5 gene not to be pathogenic

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