Complete mtDNA Genome Sequences Research Articles

Human paternal and maternal demographic histories: insights from high-resolution Y chromosome and mtDNA sequences.

BackgroundComparisons of maternally-inherited mitochondrial DNA (mtDNA) and paternally-inherited non-recombining Y chromosome (NRY) variation have provided important insights into the impact of sex-biased processes (such as migration, residence pattern, and so on) on human genetic variation. However, such comparisons have been limited by the different molecular methods typically used to assay mtDNA and NRY variation (for example, sequencing hypervariable segments of the control region for mtDNA vs. genotyping SNPs and/or STR loci for the NRY). Here, we report a simple capture array method to enrich Illumina sequencing libraries for approximately 500 kb of NRY sequence, which we use to generate NRY sequences from 623 males from 51 populations in the CEPH Human Genome Diversity Panel (HGDP). We also obtained complete mtDNA genome sequences from the same individuals, allowing us to compare maternal and paternal histories free of any ascertainment bias.ResultsWe identified 2,228 SNPs in the NRY sequences and 2,163 SNPs in the mtDNA sequences. Our results confirm the controversial assertion that genetic differences between human populations on a global scale are bigger for the NRY than for mtDNA, although the differences are not as large as previously suggested. More importantly, we find substantial regional variation in patterns of mtDNA versus NRY variation. Model-based simulations indicate very small ancestral effective population sizes (<100) for the out-of-Africa migration as well as for many human populations. We also find that the ratio of female effective population size to male effective population size (Nf/Nm) has been greater than one throughout the history of modern humans, and has recently increased due to faster growth in Nf than Nm.ConclusionsThe NRY and mtDNA sequences provide new insights into the paternal and maternal histories of human populations, and the methods we introduce here should be widely applicable for further such studies.

Migration and interaction in a contact zone: mtDNA variation among Bantu-speakers in Southern Africa.

Bantu speech communities expanded over large parts of sub-Saharan Africa within the last 4000–5000 years, reaching different parts of southern Africa 1200–2000 years ago. The Bantu languages subdivide in several major branches, with languages belonging to the Eastern and Western Bantu branches spreading over large parts of Central, Eastern, and Southern Africa. There is still debate whether this linguistic divide is correlated with a genetic distinction between Eastern and Western Bantu speakers. During their expansion, Bantu speakers would have come into contact with diverse local populations, such as the Khoisan hunter-gatherers and pastoralists of southern Africa, with whom they may have intermarried. In this study, we analyze complete mtDNA genome sequences from over 900 Bantu-speaking individuals from Angola, Zambia, Namibia, and Botswana to investigate the demographic processes at play during the last stages of the Bantu expansion. Our results show that most of these Bantu-speaking populations are genetically very homogenous, with no genetic division between speakers of Eastern and Western Bantu languages. Most of the mtDNA diversity in our dataset is due to different degrees of admixture with autochthonous populations. Only the pastoralist Himba and Herero stand out due to high frequencies of particular L3f and L3d lineages; the latter are also found in the neighboring Damara, who speak a Khoisan language and were foragers and small-stock herders. In contrast, the close cultural and linguistic relatives of the Herero and Himba, the Kuvale, are genetically similar to other Bantu-speakers. Nevertheless, as demonstrated by resampling tests, the genetic divergence of Herero, Himba, and Kuvale is compatible with a common shared ancestry with high levels of drift, while the similarity of the Herero, Himba, and Damara probably reflects admixture, as also suggested by linguistic analyses.

The complete mitochondrial genome of Discogobio tetrabarbatus (Cypriniformes Cyprnidae)

The complete mitochondrial genome of a China endemic fish Discogobio tetrabarbatus is a circular molecular of 16,596 bp in size, containing 13 protein-coding genes(PCGs), 22 transfer RNA (tRNA) genes, 2 ribosomal RNA (rRNA) genes and a non-coding control region. Most of the genes are encoded on the heavy strand, expect for ND6 and eight tRNAs. The control region is 936 bp in length and located between the tRNAPro and tRNAPhe genes. Of 13 PCGs, 7 genes (ND2, COII, ATPase 6, COIII, ND3, ND4, Cytb) had an incomplete stop codon. The complete mtDNA genome sequence obtained in this study would be useful for studying genetic diversity and phylogenetics in Discogobio tetrabarbatus and related taxa in future.

The complete mitochondrial genome of the ratmouth barbell, Ptychidio jordani (Cypriniformes Cyprnidae)

The complete mitochondrial genome of an endemic fish Ptychidio jordani is a circular molecular of 16,602 bp in size, containing 13 protein-coding genes (PCGs), 22 transfer RNA (tRNA) genes, 2 ribosomal RNA (rRNA) genes and a non-coding control region. Most of the genes are encoded on the heavy strand, expect for ND6 and eight tRNAs. The control region is 940 bp in length and is located between the tRNAPro and tRNAPhe genes. Of 13 PCGs, 7 genes (ND2, COII, ATPase 6, COIII, ND3, ND4, Cytb) had an incomplete stop codon. The complete mtDNA genome sequence obtained in this study would be useful for studying genetic diversity and phylogenetics in Ptychidio jordani and related taxa in future.

Complete mitochondrial genome of Pareuchiloglanis sinensis (Siluriformes: Sisoridae)

The complete mitochondrial genome of Pareuchiloglanis sinensis, an endemic Chinese sisorid fish, was determined by DNA sequencing based on the PCR fragments. The complete mtDNA genome sequence of P. sinensis is 16,593 bp in length, with a gene content of 13 protein-coding, 2 ribosomal RNA, and 22 transfer RNA genes, and a typical gene arrangement identical to many other reported fishes. The overall base composition of the heavy strand was 30.6% A, 24.2% T, 16.0% G and 29.2% C, with a relatively high A + T content (54.8%). This will provide a useful tool for understanding the genetic diversity, population structure and conservation status of P. sinensis in future.

The complete mitochondrial genome of Pseudobagrus emarginatus (Siluriformes: Bagridae)

In this study, the total mitochondrial genome sequence of Pseudobagrus emarginatus (Siluriformes: Bagridae) was firstly sequenced and determined. The complete mtDNA genome sequence of P. emarginatus is 16,534 bp in length. It consists of 22 transfer RNA genes, 2 ribosomal RNA genes, 13 protein-coding genes, and a non-coding control region (D-loop). The overall-based composition was 31.5% A, 26.8% T, 14.9% G and 26.8% C, with a high A+T content (58.3%), which was nearly the same as other reported catfishes. These results will provide useful data to the natural resources conservation and systematics analysis of P. emarginatus and its related species in future.

The complete mitochondrial genome of the spotted longbarbel catfish, Hemibagrus guttatus (Siluriformes, Bagridae)

Spotted longbarbel catfish, Hemibagrus guttatus (Siluriformes, Bagridae), is regarded as one of the “four famous fish” in the Pearl River system in China. So far, very few genomic resources from this species were available. In the present study, the complete mitochondrial genome of H. guttatus was determined to be 16,528 bp long circular molecule with a typical gene arrangement of vertebrate mitochondrial DNA. It includes 22 transfer RNA genes, 2 ribosomal RNA genes, 13 protein-coding genes, and a non-coding control region (D-loop). The complete mtDNA genome sequence obtained in this study would be useful for studying genetic diversity and phylogenetics in H. guttatus and related taxa in future.

The complete mitochondrial genome sequence of Coreoperca whiteheadi (Perciformes: Serranidae)

In this paper, the complete mitochondrial DNA (mtDNA) sequence of Coreoperca whiteheadi was determined. The complete mtDNA genome sequence of C. whiteheadi is 16,483 bp in length. It consists of 13 protein-coding genes, 22 transfer RNA genes, 2 rRNA genes and 2 non-coding regions. Overall base composition of mitogenome is estimated to be 28.30% for A, 29.33% for C, 16.06% for G and 26.32% for T, respectively, with a high A + T content (54.62%). The complete mitogenome of the C. whiteheadi could contribute to basic researches on population history, molecular systematics and phylogeography. It is also helpful to the reasonable utilization and development of rational management strategies for C. whiteheadi resource.

Complete mitochondrial genome sequence of the common bean anthracnose pathogen Colletotrichum lindemuthianum

Colletotrichum lindemuthianum is the causal agent of anthracnose in common bean (Phaseolus vulgaris), one of the most limiting factors for this crop in South and Central America. In this work, the mitochondrial sequence of a Colombian isolate of C. lindemuthianum obtained from a common bean plant (var. Cargamanto) with anthracnose symptoms is presented. The mtDNA codes for 13 proteins of the respiratory chain, 1 ribosomal protein, 2 homing endonucleases, 2 ribosomal RNAs and 28 tRNAs. This is the first report of a complete mtDNA genome sequence from C. lindemuthianum

The complete mitochondrial genome sequence of Siniperca undulate (Perciformes: Percichthyidae)

In this paper, the complete mitochondrial DNA (mtDNA) sequence of Siniperca undulate was determined. The complete mtDNA genome sequence of S. undulate was 16,504 bp in length. It consisted of 13 protein-coding genes, 22 transfer RNA genes, 2 rRNA genes and 2 non-coding regions. Overall base composition of mitogenome was estimated to be 28.38% for A, 29.43% for C, 16.46% for G and 25.73% for T, respectively, with a high A + T content (54.11%). The complete mitogenome of the S. undulate can provide a basic data for the studies on population history, molecular systematics, phylogeography, stock evaluation and conservation genetics. It is also helpful to the reasonable utilization and development of rational management strategies for S. undulate resource.

Investigating the Prehistory of Tungusic Peoples of Siberia and the Amur-Ussuri Region with Complete mtDNA Genome Sequences and Y-chromosomal Markers

Evenks and Evens, Tungusic-speaking reindeer herders and hunter-gatherers, are spread over a wide area of northern Asia, whereas their linguistic relatives the Udegey, sedentary fishermen and hunter-gatherers, are settled to the south of the lower Amur River. The prehistory and relationships of these Tungusic peoples are as yet poorly investigated, especially with respect to their interactions with neighbouring populations. In this study, we analyse over 500 complete mtDNA genome sequences from nine different Evenk and even subgroups as well as their geographic neighbours from Siberia and their linguistic relatives the Udegey from the Amur-Ussuri region in order to investigate the prehistory of the Tungusic populations. These data are supplemented with analyses of Y-chromosomal haplogroups and STR haplotypes in the Evenks, Evens, and neighbouring Siberian populations. We demonstrate that whereas the North Tungusic Evenks and Evens show evidence of shared ancestry both in the maternal and in the paternal line, this signal has been attenuated by genetic drift and differential gene flow with neighbouring populations, with isolation by distance further shaping the maternal genepool of the Evens. The Udegey, in contrast, appear quite divergent from their linguistic relatives in the maternal line, with a mtDNA haplogroup composition characteristic of populations of the Amur-Ussuri region. Nevertheless, they show affinities with the Evenks, indicating that they might be the result of admixture between local Amur-Ussuri populations and Tungusic populations from the north.

Unraveling the complex maternal history of Southern African Khoisan populations

The Khoisan populations of southern Africa are known to harbor some of the deepest-rooting lineages of human mtDNA; however, their relationships are as yet poorly understood. Here, we report the results of analyses of complete mtDNA genome sequences from nearly 700 individuals representing 26 populations of southern Africa who speak diverse Khoisan and Bantu languages. Our data reveal a multilayered history of the indigenous populations of southern Africa, who are likely to be the result of admixture of different genetic substrates, such as resident forager populations and pre-Bantu pastoralists from East Africa. We find high levels of genetic differentiation of the Khoisan populations, which can be explained by the effect of drift together with a partial uxorilocal/multilocal residence pattern. Furthermore, there is evidence of extensive contact, not only between geographically proximate groups, but also across wider areas. The results of this contact, which may have played a role in the diffusion of common cultural and linguistic features, are especially evident in the Khoisan populations of the central Kalahari.

Complete mitochondrial DNA genome of Pseudobagrus truncatus (Siluriformes: Bagridae)

In this study, the complete mitochondrial DNA (mtDNA) sequence of Pseudobagrus truncatus (Siluriformes: Bagridae) was determined. The complete mtDNA genome sequence of P. truncatus is 16,533 bp in size. It consists of 13 protein-coding genes, 22 transfer RNA genes, 2 ribosomal RNA genes and one non-coding control region. The gene order and genes were the same as that found in other previously reported catfishes. The overall-based composition was 31.6% A, 26.7% T, 14.9% G and 26.8% C, with a high A + T content (58.3%). This complete mitogenome of P. truncatus provides a basic data for studies on species identification, molecular systematics and conservation genetics.

A Highly Unstable Recent Mutation in Human mtDNA

An A-to-G transition at position 16247 in the human mtDNA genome denotes haplogroup B4a1a1a and its sublineages. Informally known as the "Polynesian motif," this haplogroup has been widely used as a marker in Oceania of genetic affiliation with the Austronesian expansion. The 16247G allele has arisen only once in the human mtDNA phylogeny, about 7,000 thousand years ago, and is nearly fixed in Remote Oceania. We analyzed 536 complete mtDNA genome sequences from the Solomon Islands from haplogroup B4a1a1 and associated subhaplogroups and found multiple independent back mutations from 16247G to 16247A. We also find elevated levels of heteroplasmy at this position in samples with the 16247G allele, suggesting the ongoing occurrence of somatic back-mutations and/or transmission of heteroplasmy. Moreover, the G allele is predicted to introduce a novel stem-loop structure in the DNA sequence that may be structurally unfavorable, thereby accounting for the remarkable number of back-mutations observed at the 16247G allele in this short evolutionary time span. More generally, haplogroup-calling scripts result in inaccurate haplogroup calls involving the back-mutation and need to be supplemented with other types of analyses; this may be true for other mtDNA lineages because no other lineage has been investigated to the same extent (over 500 complete mtDNA sequences).

The complete mitochondrial genome sequence of Coilia ectenes (Clupeiformes: Engraulidae)

In this paper, the complete mitochondrial DNA (mtDNA) sequence of Coilia ectenes was determined. The complete mtDNA genome sequence of C. ectenes is 16,852 bp in length. It consists of 13 protein-coding genes, 22 transfer RNA genes, two rRNA genes and two non-coding regions. Overall base composition of mitogenome is estimated to be 31.15% for A, 27.18% for C, 15.58% for G and 26.10% for T, respectively, with a high A+T content (57.25%). The complete mitogenome of the C. ectenes can provide a basic data for the studies on population history, molecular systematics, phylogeography, stock evaluation and conservation genetics. It is also helpful to the reasonable utilization and development of rational management strategies for C. ectenes resource.

Mitochondrial genomic analysis of late onset Alzheimer's disease reveals protective haplogroups H6A1A/H6A1B: the Cache County Study on Memory in Aging.

BackgroundAlzheimer’s disease (AD) is the most common cause of dementia and AD risk clusters within families. Part of the familial aggregation of AD is accounted for by excess maternal vs. paternal inheritance, a pattern consistent with mitochondrial inheritance. The role of specific mitochondrial DNA (mtDNA) variants and haplogroups in AD risk is uncertain.Methodology/Principal FindingsWe determined the complete mitochondrial genome sequence of 1007 participants in the Cache County Study on Memory in Aging, a population-based prospective cohort study of dementia in northern Utah. AD diagnoses were made with a multi-stage protocol that included clinical examination and review by a panel of clinical experts. We used TreeScanning, a statistically robust approach based on haplotype networks, to analyze the mtDNA sequence data. Participants with major mitochondrial haplotypes H6A1A and H6A1B showed a reduced risk of AD (p = 0.017, corrected for multiple comparisons). The protective haplotypes were defined by three variants: m.3915G>A, m.4727A>G, and m.9380G>A. These three variants characterize two different major haplogroups. Together m.4727A>G and m.9380G>A define H6A1, and it has been suggested m.3915G>A defines H6A. Additional variants differentiate H6A1A and H6A1B; however, none of these variants had a significant relationship with AD case-control status.Conclusions/SignificanceOur findings provide evidence of a reduced risk of AD for individuals with mtDNA haplotypes H6A1A and H6A1B. These findings are the results of the largest study to date with complete mtDNA genome sequence data, yet the functional significance of the associated haplotypes remains unknown and replication in others studies is necessary.

Contrasting Maternal and Paternal Histories in the Linguistic Context of Burkina Faso

Burkina Faso is located in the heart of West Africa and is a representative of the local structured patterns of human variability. Here, different cultures and languages are found in a geographic contiguity, as a result of several waves of migration and the succession of long- and short-term empires. However, historical documentation for this area is only partial, focusing predominantly on the recent empires, and linguistic surveys lack the power to fully elucidate the social context of the contact-induced changes. In this paper, we report Y-chromosomal data and complete mtDNA genome sequences for ten populations from Burkina Faso whose languages belong to two very distantly related branches of the Niger-Congo phylum, the Gur and Mande language families. In addition, two further populations, the Mande-speaking Mandenka from Senegal and the Yoruba from Nigeria, were included for regional comparison. We focus on the different historical trajectories undergone by the maternal and paternal lineages. Our results reveal a striking structure in the paternal line, which matches the linguistic affiliation of the ethnolinguistic groups, in contrast to the near-complete homogeneity of the populations in the maternal line. However, while the ancient structure along the linguistic lines is apparent in the Y-chromosomal haplogroup affiliation, this has clearly been overlain by more recent migrations, as shown by significant correlations between the genetic distances based on Y chromosome short tandem repeats and geographic distances between the populations, as well as by the patterns of shared haplotypes. Using the complete mtDNA sequences, we are able to reconstruct population size variation in the past, showing a strong sign of expansion in the concomitance with the Holocene Climate Optimum approximately 12,000-10,000 years ago, which has been suggested as the cause of the spread of the Niger-Congo phylum in the area. However, subsequent climatic fluctuations do not appear to have had an impact on the demography of the inhabitants of West Africa, probably reflecting the adaptive advantages of cultural innovations, such as pastoralism and agriculture.

High-throughput sequencing of complete human mtDNA genomes from the Caucasus and West Asia: high diversity and demographic inferences

To investigate the demographic history of human populations from the Caucasus and surrounding regions, we used high-throughput sequencing to generate 147 complete mtDNA genome sequences from random samples of individuals from three groups from the Caucasus (Armenians, Azeri and Georgians), and one group each from Iran and Turkey. Overall diversity is very high, with 144 different sequences that fall into 97 different haplogroups found among the 147 individuals. Bayesian skyline plots (BSPs) of population size change through time show a population expansion around 40-50 kya, followed by a constant population size, and then another expansion around 15-18 kya for the groups from the Caucasus and Iran. The BSP for Turkey differs the most from the others, with an increase from 35 to 50 kya followed by a prolonged period of constant population size, and no indication of a second period of growth. An approximate Bayesian computation approach was used to estimate divergence times between each pair of populations; the oldest divergence times were between Turkey and the other four groups from the South Caucasus and Iran (~400-600 generations), while the divergence time of the three Caucasus groups from each other was comparable to their divergence time from Iran (average of ~360 generations). These results illustrate the value of random sampling of complete mtDNA genome sequences that can be obtained with high-throughput sequencing platforms.

Larger mitochondrial DNA than Y-chromosome differences between matrilocal and patrilocal groups from Sumatra

Genetic differences between human populations are typically larger for the Y-chromosome than for mitochondrial DNA (mtDNA), which has been attributed to the ubiquity of patrilocality across human cultures. However, this claim has been disputed, and previous analyses of matrilocal groups give conflicting results. Here we analyse mtDNA variation (complete mtDNA genome sequences via next-generation sequencing) and non-recombining regions of the Y-chromosome variation (Y-single-nucleotide-polymorphisms and Y-short-tandem-repeats (STR)) in a matrilocal group (the Semende) and a patrilocal group (the Besemah) from Sumatra. We find in the Semende significantly lower mtDNA diversity than in the Besemah as expected for matrilocal groups, but unexpectedly we find no difference in Y-chromosome diversity between the groups. We highlight the importance of using complete mtDNA sequences for such analyses, as using only partial sequences (as done in previous studies) can give misleading results.

High-throughput sequencing of complete human mtDNA genomes from the Philippines

Because of the time and cost associated with Sanger sequencing of complete human mtDNA genomes, practically all evolutionary studies have screened samples first to define haplogroups and then either selected a few samples from each haplogroup, or many samples from a particular haplogroup of interest, for complete mtDNA genome sequencing. Such biased sampling precludes many analyses of interest. Here, we used high-throughput sequencing platforms to generate, rapidly and inexpensively, 109 complete mtDNA genome sequences from random samples of individuals from three Filipino groups, including one Negrito group, the Mamanwa. We obtained on average ∼55-fold coverage per sequence, with <1% missing data per sequence. Various analyses attest to the accuracy of the sequences, including comparison to sequences of the first hypervariable segment of the control region generated by Sanger sequencing; patterns of nucleotide substitution and the distribution of polymorphic sites across the genome; and the observed haplogroups. Bayesian skyline plots of population size change through time indicate similar patterns for all three Filipino groups, but sharply contrast with such plots previously constructed from biased sampling of complete mtDNA genomes, as well as with an artificially constructed sample of sequences that mimics the biased sampling. Our results clearly demonstrate that the high-throughput sequencing platforms are the methodology of choice for generating complete mtDNA genome sequences.