Malliya Gounder Palanichamy

Phylogeny of Mitochondrial DNA Macrohaplogroup N in India, Based on Complete Sequencing: Implications for the Peopling of South Asia

To resolve the phylogeny of the autochthonous mitochondrial DNA (mtDNA) haplogroups of India and determine the relationship between the Indian and western Eurasian mtDNA pools more precisely, a diverse subset of 75 macrohaplogroup N lineages was chosen for complete sequencing from a collection of >800 control-region sequences sampled across India. We identified five new autochthonous haplogroups (R7, R8, R30, R31, and N5) and fully characterized the autochthonous haplogroups (R5, R6, N1d, U2a, U2b, and U2c) that were previously described only by first hypervariable segment (HVS-I) sequencing and coding-region restriction-fragment-length polymorphism analysis. Our findings demonstrate that the Indian mtDNA pool, even when restricted to macrohaplogroup N, harbors at least as many deepest-branching lineages as the western Eurasian mtDNA pool. Moreover, the distribution of the earliest branches within haplogroups M, N, and R across Eurasia and Oceania provides additional evidence for a three-founder-mtDNA scenario and a single migration route out of Africa.

Chicken domestication: an updated perspective based on mitochondrial genomes.

Domestic chickens (Gallus gallus domesticus) fulfill various roles ranging from food and entertainment to religion and ornamentation. To survey its genetic diversity and trace the history of domestication, we investigated a total of 4938 mitochondrial DNA (mtDNA) fragments including 2843 previously published and 2095 de novo units from 2044 domestic chickens and 51 red junglefowl (Gallus gallus). To obtain the highest possible level of molecular resolution, 50 representative samples were further selected for total mtDNA genome sequencing. A fine-gained mtDNA phylogeny was investigated by defining haplogroups A–I and W–Z. Common haplogroups A–G were shared by domestic chickens and red junglefowl. Rare haplogroups H–I and W–Z were specific to domestic chickens and red junglefowl, respectively. We re-evaluated the global mtDNA profiles of chickens. The geographic distribution for each of major haplogroups was examined. Our results revealed new complexities of history in chicken domestication because in the phylogeny lineages from the red junglefowl were mingled with those of the domestic chickens. Several local domestication events in South Asia, Southwest China and Southeast Asia were identified. The assessment of chicken mtDNA data also facilitated our understanding about the Austronesian settlement in the Pacific.

Population phylogenomic analysis of mitochondrial DNA in wild boars and domestic pigs revealed multiple domestication events in East Asia

BackgroundPreviously reported evidence indicates that pigs were independently domesticated in multiple places throughout the world. However, a detailed picture of the origin and dispersal of domestic pigs in East Asia has not yet been reported.ResultsPopulation phylogenomic analysis was conducted in domestic pigs and wild boars by screening the haplogroup-specific mutation motifs inferred from a phylogenetic tree of pig complete mitochondrial DNA (mtDNA) sequences. All domestic pigs are clustered into single clade D (which contains subclades D1, D2, D3, and D4), with wild boars from East Asia being interspersed. Three haplogroups within D1 are dominant in the Mekong region (D1a2 and D1b) and the middle and downstream regions of the Yangtze River (D1a1a), and may represent independent founders of domestic pigs. None of the domestic pig samples from North East Asia, the Yellow River region, and the upstream region of the Yangtze River share the same haplogroup status with the local wild boars. The limited regional distributions of haplogroups D1 (including its subhaplogroups), D2, D3, and D4 in domestic pigs suggest at least two different in situ domestication events.ConclusionThe use of fine-grained mtDNA phylogenomic analysis of wild boars and domestic pigs is a powerful tool with which to discern the origin of domestic pigs. Our findings show that pig domestication in East Asia mainly occurred in the Mekong region and the middle and downstream regions of the Yangtze River.

Y-chromosome haplogroup diversity in the sub-Himalayan Terai and Duars populations of East India

The sub-Himalayan Terai and Duars, the important outermost zones comprising the plains of East India, are known as the reservoirs of ethnic diversity. Analysis of the paternal genetic diversity of the populations inhabiting these regions and their genetic relationships with adjacent Himalayan and other Asian populations has not been addressed empirically. In the present investigation, we undertook a Y-chromosome phylogeographic study on 10 populations (n=375) representing four different linguistic groups from the sub-Himalayan Terai and Duars regions of East India. The high-resolution analysis of Y-chromosome haplogroup variations based on 76 binary markers revealed that the sub-Himalayan paternal gene pool is extremely heterogeneous. Three major haplogroups, namely H, O and R, are shared across the four linguistic groups. The Indo-European-speaking castes exhibit more haplogroup diversity than the tribal groups. The findings of the present investigation suggest that the sub-Himalayan gene pools have received predominant Southeast Asian contribution. In addition, the presence of Northeast and South Asian signatures illustrate multiple events of population migrations as well as extensive genetic admixture amongst the linguistic groups.

Mitochondrial DNA evidence supports northeast Indian origin of the aboriginal Andamanese in the Late Paleolithic

In view of the geographically closest location to Andaman archipelago, Myanmar was suggested to be the origin place of aboriginal Andamanese. However, for lacking any genetic information from this region, which has prevented to resolve the dispute on whether the aboriginal Andamanese were originated from mainland India or Myanmar. To solve this question and better understand the origin of the aboriginal Andamanese, we screened for haplogroups M31 (from which Andaman-specific lineage M31a1 branched off) and M32 among 846 mitochondrial DNAs (mtDNAs) sampled across Myanmar. As a result, two Myanmar individuals belonging to haplogroup M31 were identified, and completely sequencing the entire mtDNA genomes of both samples testified that the two M31 individuals observed in Myanmar were probably attributed to the recent gene flow from northeast India populations. Since no root lineages of haplogroup M31 or M32 were observed in Myanmar, it is unlikely that Myanmar may serve as the source place of the aboriginal Andamanese. To get further insight into the origin of this unique population, the detailed phylogenetic and phylogeographic analyses were performed by including additional 7 new entire mtDNA genomes and 113 M31 mtDNAs pinpointed from South Asian populations, and the results suggested that Andaman-specific M31a1 could in fact trace its origin to northeast India. Time estimation results further indicated that the Andaman archipelago was likely settled by modern humans from northeast India via the land-bridge which connected the Andaman archipelago and Myanmar around the Last Glacial Maximum (LGM), a scenario in well agreement with the evidence from linguistic and palaeoclimate studies.

Potential pitfalls in MitoChip detected tumor-specific somatic mutations: a call for caution when interpreting patient data

BackgroundSeveral investigators have employed high throughput mitochondrial sequencing array (MitoChip) in clinical studies to search mtDNA for markers linked to cancers. In consequence, a host of somatic mtDNA mutations have been identified as linked to different types of cancers. However, closer examination of these data show that there are a number of potential pitfalls in the detection tumor-specific somatic mutations in clinical case studies, thus urging caution in the interpretation of mtDNA data to the patients. This study examined mitochondrial sequence variants demonstrated in cancer patients, and assessed the reliability of using detected patterns of polymorphisms in the early diagnosis of cancer.MethodsPublished entire mitochondrial genomes from head and neck, adenoid cystic carcinoma, sessile serrated adenoma, and lung primary tumor from clinical patients were examined in a phylogenetic context and compared with known, naturally occurring mutations which characterize different populations.ResultsThe phylogenetic linkage analysis of whole arrays of mtDNA mutations from patient cancerous and non-cancerous tissue confirmed that artificial recombination events occurred in studies of head and neck, adenoid cystic carcinoma, sessile serrated adenoma, and lung primary tumor. Our phylogenetic analysis of these tumor and control leukocyte mtDNA haplotype sequences shows clear cut evidence of mixed ancestries found in single individuals.ConclusionsOur study makes two prescriptions: both in the clinical situation and in research 1. more care should be taken in maintaining sample identity and 2. analysis should always be undertaken with respect to all the data available and within an evolutionary framework to eliminate artifacts and mix-ups.

Genetic diversity of the endemic gourmet mushroom Thelephora ganbajun from south-western China

The ectomycorrhizal fungus Thelephora ganbajun is an endemic gourmet mushroom in Yunnan province, south-western China. However, despite its widespread consumer appeal, nutritional value and potential ecological role in natural forests, very little is known about its genetics, diversity and ecology. In this study, we investigated DNA sequence variation at the internal transcribed spacer (ITS) regions among 156 specimens collected from 23 sites of nine regions in Yunnan Province. Our analysis identified a total of 34 ITS haplotypes and these haplotypes were clustered into five distinct phylogenetic groups. The evolutionary divergences among these clades are similar to or greater than many known sister species pairs within the genus Thelephora and the closely related genus Tomentella. Among the 34 ITS haplotypes, 22 were represented by one specimen each and the remaining 12 were each shared by two or more specimens. The most common haplotype contained 68 specimens distributed in 21 of the 23 sites, a result consistent with gene flow among geographical populations. However, analysis of molecular variance (AMOVA) revealed low but significant genetic differentiation among local and regional populations. Interestingly, the Mantel test identified that the extent of genetic differentiation was not significantly correlated with geographical distance. Our study revealed significant genetic divergence within Th. ganbajun and limited but detectable gene flow among geographical populations of this endemic ectomycorrhizal gourmet mushroom.

Tamil Merchant in Ancient Mesopotamia

Recent analyses of ancient Mesopotamian mitochondrial genomes have suggested a genetic link between the Indian subcontinent and Mesopotamian civilization. There is no consensus on the origin of the ancient Mesopotamians. They may be descendants of migrants, who founded regional Mesopotamian groups like that of Terqa or they may be merchants who were involved in trans Mesopotamia trade. To identify the Indian source population showing linkage to the ancient Mesopotamians, we screened a total of 15,751 mitochondrial DNAs (11,432 from the literature and 4,319 from this study) representing all major populations of India. Our results although suggest that south India (Tamil Nadu) and northeast India served as the source of the ancient Mesopotamian mtDNA gene pool, mtDNA of these ancient Mesopotamians probably contributed by Tamil merchants who were involved in the Indo-Roman trade.

Are ATPase6 polymorphisms associated with primary ovarian insufficiency

We read with much interest the report of Venkatesh et al. [1] concerning the mitochondrial genome ATPase6 gene mutations associated with primary ovarian insufficiency (POI). Their study catalogued ATPase6 gene nucleotide polymorphisms in idiopathic cases of POI. These authors found that nucleotide changes in the ATPase6 gene were higher in the POI patients compared to a control group. They also suggested that two non-synonymous mutations, in the ATPase6 gene, 8684C[T and 9094C[T were significantly (P \ 0.005) associated with POI cases. We suggest however, that their results and conclusions are significantly weaker than they seem because they failed to examine their data thoroughly. Mitochondrial genome substitutions present in a homoplasmic fashion (haplotypes) are commonly associated in genetic lineages (mtDNA haplogroups). We reexamined the data of Venkatesh et al. [1] employing mtDNA phylogenetic tree analysis. We found that of their six mutations in the ATPase6 gene five were attributable to distinct south Asian, West Eurasian and East Asian haplogroups. Mutations 8679A[G, 8865G[A, and 9094C[T are a characteristic motif of south Asian haplogroups M39, M4b2 and U2b1, respectively [2–4]. The mutations 8684C[T and 9123G[A are defining markers for the west Eurasian haplogroups U7 and H4 [3, 5]; this mutation also occurs in the East Asian haplogroups M8a and B4a [6]. While the west Eurasian H4 and the East Asian M8a haplogroups are almost nonexistent in India, the U7 haplogroup is present in 10–15% of the population in north India [7]. Therefore, it is apparent that the substitution 8684C[T and 9123G[A scored in the POI cases actually are common mutations indicating that their carriers belong to the haplogroups U7 and B4a. The mutation 9064G[A is also a commonly occurring mutation found in four different south Asian haplogroups: M3c, M5a1a, M32, and M51 [3, 8, 9]. With the observed ATPase6 gene substitutions, cases and controls sorted into their proper mtDNA haplogroups (Table 1), we can see that of the mutations in the 20 POI study cases, 7 cases are belong to haplogroup U7, 5 individuals belong to U2b1 and B4a, and one each to haplogroups M4b2 and M39. In the control group only two participants had common haplogroup mutations and they belong to haplogroups M4b2 and B4a. This extreme difference in haplogroup distribution demonstrates clearly that the controls and POI cases were recruited from significantly different hereditary populations. Association studies produce spurious results if the cases subjects are not matched properly with control subjects [10]. It is apparent that the results in this study, for example, were misinterpreted by their authors and that the control group was not a scientifically relevant control. Once again we demonstrate the importance of examining mitochondrial mutations against the backdrop of known haplogroups, and the importance of using phylogenetic in studies of human disease. Failing to employ all data relevant to mitochondrial studies often presents a false picture of disease association, leading to incorrect conclusions and potentially inefficient and faulty new diagnostic tests. M. G. Palanichamy (&) Y.-P. Zhang Laboratory for Conservation and Utilization of Bio-resources, Yunnan University, Kunming 650 091, Yunnan, China e-mail: empalani@yahoo.com