Mitochondrial DNA haplogroups of 94 Ainu individuals from the Edo era were successfully determined by analyzing haplogroup-defining polymorphisms in the hypervariable and coding regions.
To test the hypothesis that mitochondrial DNA (mtDNA) variants contribute to the susceptibility to schizophrenia, we sequenced the entire mtDNAs from 93 Japanese schizophrenic patients.
We investigated control and coding region polymorphisms in mitochondrial DNA (mtDNA) in 100 unrelated individuals from a Japanese population and determined the basal phylogenetic haplogroup lineages in all samples under updated information.
Comprehensive analysis of common and rare mitochondrial DNA variants in elite Japanese athletes: a case–control study
The purpose of the present study was to identify mitochondrial DNA (mtDNA) polymorphisms and rare variants that associate with elite Japanese athletic status. Subjects comprised 185 elite Japanese athletes who had represented Japan at international competitions (that is, 100 endurance/middle-power athletes: EMA; 85 sprint/power athletes: SPA) and 672 Japanese controls (CON). The entire mtDNA sequences (16 569 bp) were analyzed by direct sequencing.
To construct an East Asia mitochondrial DNA (mtDNA) phylogeny, we sequenced the complete mitochondrial genomes of 672 Japanese individuals (http://www.giib.or.jp/mtsnp/index_e.html). This allowed us to perform a phylogenetic analysis with a pool of 942 Asiatic sequences. New clades and subclades emerged from the Japanese data.
Haplogroup A1 is a branch on the maternal tree of humanity. It was born between 7,600 and 18,400 years ago (Behar et al., 2012b). It is worth noting that prior to Phylotree build 16 this lineage was known as A4a.
Haplogroup A13 is an Asia branch on the maternal tree of humanity. Its age and precise origin are not yet clear.
Haplogroup A15b is a branch on the maternal tree of humanity.
Haplogroup A1a is a Eurasian branch on the maternal tree of humanity. It is between 3,700 and 10,800 years old (Behar et al 2012b).
Haplogroup A20 is a branch on the maternal tree of humanity.