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Sequeira, J. J.

Publications and source records attributed to Sequeira, J. J..

5 recordsLinked to original sources

South Asian Maternal Lineage haplogroup R30 Provides Phylogenetic Evidence of human dispersal across South Asia

South Asia is central to debates on early human dispersals, particularly the Out of Africa model and Eurasian colonization. Studies of M haplogroups have been used to support both Northern and Southern route hypotheses, but current archaeological and genetic evidence in the region remains contradictory. In the present work, we find that in addition to haplogroup M lineages, a few R lineages exhibit ancient, locally rooted variation, with R30 being one of the widespread haplogroup of R lineages across South Asia. To better understand South Asian demographic history, we investigated the phylogeographic distribution of haplogroup R30, an indigenous lineage. We used 190 complete modern and ancient sequences from diverse mainland and island populations including incorporation of 44 newly generated sequences which enabled the refinement of the R30 phylogeny and the identification of a novel basal lineage, R30c. Bayesian and {rho}-based age estimates suggest that R30 originated in the Indian subcontinent ~50 kya. Early diversification likely occurred in Northern India, giving rise to R30b (~44 kya), while R30a and R30c differentiated primarily in Southern India. Several subclades of haplogroup R30 exhibit strong signatures of founder effects, particularly among the language isolate Vedda of Sri Lanka, Uru Kurumban of Southern India, and the populations of the Lakshadweep archipelago. Bayesian skyline analyses indicate long-term demographic stability followed by rapid lineage expansion ~20 kya and more recent declines consistent with localised drift and relatively recent founder events. The presence of early-diverging R30 lineages in Thailand and Indonesia further supports long-term connections between South and Southeast Asia. Overall, archaeological and genetic evidence point towards the multiple migrations for South Asia colonizations.

evolutionary biology↗

GHIST 2024: The 1st Genomic History Inference Strategies Tournament

Evaluating population genetic inference methods is challenging due to the complexity of evolutionary histories, potential model misspecification, and unconscious biases in self-assessment. The Genomic History Inference Strategies Tournament (GHIST) is a community-driven competition designed to evaluate methods for inferring evolutionary history from population genomic data. The inaugural GHIST competition ran from July to November 2024 and featured four demographic history inference challenges of varying complexity: a bottleneck model, a split with isolation model, a secondary contact model with demographic complexity, and an archaic admixture model. Data were provided as error-free VCF files, and participants submitted numerical parameter estimates that were scored by relative root mean squared error. Approximately 60 participants competed, using diverse approaches. Results revealed the current dominance of methods based on site frequency spectra, while highlighting the advantages of flexible model-building approaches for complex demographic histories. We discuss insights regarding the competition and outline the next iteration, which is ongoing with expanded challenge diversity. By providing standardized benchmarks and highlighting areas for improvement, GHIST represents a substantial step toward more reliable inference of evolutionary history from genomic data.

evolutionary biology↗

Maternal genetic affinities of Konkani population in the southwest coast of India

Ko[n]kan region on the west coast of India is a hotspot of culture, folklore and ethnolinguistic diversity. The genetic landscape of this region remains understudied. The present study features Ko[n]kan[i] population residing along the Ko[n]kan Malabar coast. We have sequenced complete mitogenomes of 85 and the hypervariable region of 210 Ko[n]kan[i] individuals to understand the maternal gene pool of this region. Comparative analysis of the over 5000 mitogenomes revealed that the Ko[n]kan[i] population clustered at a convergence point on the PCA plot, presumably due to a diverse maternal gene pool with both autochthonous and West Eurasian components. A distinct clustering pattern was observed within the subgroups of S[a]rasvata and non-S[a]rasvata Ko[n]kan[i] groups, indicating unique ancestral maternal lineages in them. This distinction is majorly due to the N macrohaplogroup lineages found in this population. We observe low haplotype and nucleotide diversity in Citrapur S[a]rasvata Brahmins (CSB), R[a]j[a]pur S[a]rasvata Brahmins (RSB), Kh[a]rvi and Kudubi compared to Gauda S[a]rasvata Brahmins (GSB) and Roman Catholics. The assimilation of both pre and post Last Glacial Maximum (LGM) haplogroups like M57, M36, M37, M3, M30, R8 and U2 in the Ko[n]kan[i] population suggests active movement and settlement along the Ko[n]kan region on the west coast of India since the Late Pleistocene through the Holocene.

genetics↗

Y chromosome STR variation reveals traditional occupation based population structure in India

Earlier models of grouping Indian populations were based on language families, social stratification and geographical location. Such grouping system has often resulted in oversimplification of ancestry inferences. Moreover, we do not find many studies focused on studying the variation within these groups and the role of past demographic events in shaping them. We analysed the Y-chromosome Short Tandem Repeats haplotypes from 8153 males from India and Eurasia to explore the impact of Holocene migration on the Indian gene pool. We used haplotype variation and date estimates to understand the characteristics of each haplogroup with respect to the different grouping models. Our findings show that the Neolithic agricultural expansion has had a strong influence in shaping the male gene pool of the Indian subcontinent. Haplogroups F, L and R1a contribute greatly towards stratifying Indian populations as hunter-gatherer related, farming-related and priestly groups respectively. Although the caste system enforced endogamy, a traditional occupation based admixture existed since the Neolithic times. Dispersal of haplogroup L from the Near East played a major role in the formation of an agriculturist population that formed an intermediary between the primitive tribes and the R1a-rich priestly group. This study shows that the frequency of R1a in the hunter-gatherer tribes (1.5%) is much lower than previously reported based on other models of population clustering.

genetics↗

Novel 4,400-year-old ancestral component in a tribe speaking a Dravidian language

Research has shown that the present-day population on the Indian subcontinent derives its ancestry from at least three components identified with pre-Indo-Iranian agriculturalists once inhabiting the Iranian plateau, pastoralists originating from the Pontic-Caspian steppe and ancient hunter-gatherer related to the Andamanese Islanders. The present-day Indian gene pool represents a gradient of mixtures from these three sources. However, with more sequences of ancient and modern genomes and fine structure analyses, we can expect a more complex picture of ancestry to emerge. In this study, we focus on Dravidian linguistic groups to propose a fourth putative source which may have branched out from the basal Middle Eastern component that gave rise to the Iranian plateau farmer related ancestry. The Elamo-Dravidian theory and the linguistic phylogeny of the Dravidian family tree provide chronological fits for the genetic findings presented here. Our findings show a correlation between the linguistic and genetic lineages in language communities speaking Dravidian languages when they are modelled together. We suggest that this source, which we shall call Proto-Dravidian ancestry, emerged around the dawn of the Indus Valley civilisation. This ancestry is distinct from all other sources described so far, and its plausible origin not later than 4,400 years ago on the region between the Iranian plateau and the Indus valley supports a Dravidian heartland before the arrival of Indo-European languages on the Indian subcontinent. Admixture analysis shows that this Proto-Dravidian ancestry is still carried by most modern inhabitants of the Indian subcontinent other than the tribal populations. This momentous finding underscores the importance of population-specific fine structure studies. We also recommend informed sampling strategies for biobanks and to avoid oversimplification of ancestral reconstruction. Achieving this requires interdisciplinary collaboration.

evolutionary biology↗