Mitochondrial Genome Variation and Evolutionary History of Australian and New Guinean Aborigines

Abstract

To study the evolutionary history of the Australian and New Guinean indigenous peoples, we analyzed 101 complete mitochondrial genomes including populations from Australia and New Guinea as well as from Africa, India, Europe, Asia, Melanesia, and Polynesia. The genetic diversity of the Australian mitochondrial sequences is remarkably high and is similar to that found across Asia. This is in contrast to the pattern seen in previously described Y-chromosome data where an Australia-specific haplotype was found at high frequency. The mitochondrial genome data indicate that Australia was colonized between 40 and 70 thousand years ago, either by a single migration from a heterogeneous source population or by multiple movements of smaller groups occurring over a period of time. Some Australian and New Guinea sequences form clades, suggesting the possibility of a joint colonization and/or admixture between the two regions.

Revisiting the role of the Himalayas in peopling Nepal: insights from mitochondrial genomes

“…1,18 Mutations are recorded by comparing with the revised Cambridge reference sequence (rCRS). 19 All the individuals were allocated into specific haplogroup based on their control-region information; the assignments were further confirmed by typing additional diagnostic coding-region mutations according to the reconstructed phylogenetic trees of East Asian, 1,20-25 South Asian 5,7,12,[26][27][28][29][30][31][32][33] and Southeast Asian [34][35][36][37][38] (Supplementary Table S1, Supplementary Material online). For the mtDNA sample of interest, entire genome was amplified and sequenced as described elsewhere.…”

“…The phylogenetic tree was reconstructed on the basis of 58 mitochondrial genomes, among which 21 mtDNAs were sampled from Katmandu, Nepal and generated in this study, whereas the rest 37 related mtDNAs were collected from the literature. 5,26,27,[31][32][33] Mutations are recorded according to the rCRS. 19 Suffixes A, C, G, and T indicate transversions, ''d'' signifies a deletion and a plus (+) signs an insertion; recurrent mutations are underlined.…”

De novo COX2 mutation in a LHON family of Caucasian origin: implication for the role of mtDNA polymorphism in human pathology

“…The fragments were resolved through agarose gel electrophoresis after HhaI digestion. The proband and his mother (lanes IV-7 and III-8, respectively) contain a mixture of mutant and wild type molecules; however, the proband's second cousin (lane IV-16) showed only wild type mtDNA molecules in his hair in which the 7598A mutation is present (Herrnstadt et al 2002;Ingman and Gyllensten 2003) (Fig. 2; haplotypes C6 and C7).…”

“…Genetic screening of maternal relatives for this variant proved its de novo occurrence in the pedigree of the studied family. The 7598A mutation has been previously described as a haplogroup-specific marker for East Eurasian haplogroup E, a monophyletic sub-branch of mtDNA haplogroup M9 that appears at minor frequencies in some East Asian populations (Stoneking et al 1990;Ballinger et al 1992;Ingman and Gyllensten 2003). However, it also occur as homoplasmic events in two phylogenetic branches within Caucasian populations (Finnila et al 2001;Howell et al 2003).…”

“…C1 and C3 were taken from our sample set; C2, C4 and C6 are haplotypes #74, 116, and 214 from Herrnstadt et al (2002); and the C5 haplotype is sample #153 from Finnila et al (2001). C7 corresponds to GenBank accession number AY289070 (adapted from Ingman and Gyllensten 2003). The West Eurasian portion of the phylogeny is enclosed in the dashed square Table 2 Evolutionary conservation of the A5T residue in 7598A-positive Leber's hereditary optic neuropathy (LHON) family and a number of other species.…”