Mohammed Shafiul Mustak

The Koṅkaṇ region on the west coast of India is a hotspot of culture, folklore and ethnolinguistic diversity, yet its maternal genetic landscape remains largely unresolved. The present study captures the genetic affinities of the Koṅkaṇī population, residing along the Koṅkaṇ Malabar coast by analysing complete mitochondrial genomes (n = 85) and control region hypervariable sequences (n = 210). Our results reveal divergent maternal histories between the Sārasvata and the non-Sārasvata groups. Comparative analysis against over 5000 mitochondrial genomes from Eurasia demonstrates that the Koṅkaṇī maternal gene pool is shaped by both deep-rooted South Asian (macro-haplogroup M) and West Eurasian lineages. Demographic modelling identifies a pre-Last Glacial Maximum (LGM) expansion and a post-LGM recovery, with macro-haplogroup N lineages serving as the primary drivers of internal genetic structuring. At the subpopulation level, occupational groups such as the Khārvi and Kuḍubi exhibit genetic signatures that are consistent with historic founder events followed by increased genetic drift relative to Gauḍa Sārasvata Brahmins and Roman Catholics, where populations display higher haplotype diversity. Social practices, including endogamy, may contribute to the differences observed between these populations. While the non-Sārasvata group clusters with autochthonous tribes, the Sārasvata groups share genetic affinities with West Eurasian and Steppe-linked lineages, suggesting that the Bronze Age migrations into South Asia were not exclusively male-mediated. Overall, this study highlights the Koṅkaṇ coast as a genetic confluence, where Late Pleistocene migrations, LGM refugia, and Holocene admixture collectively shaped its maternal ancestry. It also illustrates how climate and social shifts moulded the extant genetic diversity along western India.

Background: Oral squamous cell carcinoma (OSCC) remains a major public health challenge, particularly in South Asian populations where environmental exposures such as tobacco and areca nut consumption contribute significantly to disease burden. Although genomic studies have improved understanding of oral cancer biology, population-specific genomic data from high-risk Indian populations remain limited. This study aimed to characterize the genomic landscape of OSCC using whole-exome sequencing (WES) of fresh biopsy specimens obtained from patients residing along the southwest coast of Karnataka, India. Methods: Paired tumor and adjacent normal tissues from ten OSCC samples (total n = 20 samples) were subjected to WES to identify somatic and germline-associated variants. Matched tumor–normal comparative analysis, variant annotation, and population frequency assessment using established genomic databases, including gnomAD, were performed to characterize the mutational profile. The findings were further compared with a previously analyzed regional cohort comprising 66 OSCC patients to evaluate recurrence patterns and population relevance. Results: The analysis identified a broad background of recurrent germline-associated variants alongside a comparatively limited number of tumor-specific somatic mutations, consistent with the expected predominance of constitutional genetic variation relative to acquired coding alterations in tumor samples. Recurrent variants were observed in genes associated with DNA repair, immune signaling, inflammatory responses, and pharmacogenomic pathways, including XRCC1, ITPKB, ABCB1, and OPRM1, whereas somatic alterations were primarily detected in established cancer-associated genes such as TP53, CDKN2A, and TERT. Conclusions: Several recurrent variants demonstrated high frequencies in South Asian populations, suggesting that they may represent recurrent population-associated variants of potential biological or pharmacogenomic relevance that require validation in larger cohorts. KEGG pathway enrichment analysis identified pathways related to cancer, chemical carcinogenesis, metabolic regulation, and xenobiotic response. Overall, these findings provide preliminary insights into the population-specific genomic characteristics of OSCC in this regional cohort and highlight the need for larger validation studies to determine the biological significance and reproducibility of these findings.

Background: Oral squamous cell carcinoma (OSCC) remains a major health burden in India, yet region-specific genomic data are limited. This study aimed to characterize the mutational landscape of OSCC patients from the southwest coast of Karnataka using FFPE tissues and assess potential clinical correlations. Methods: Whole-exome sequencing was performed on tumor and adjacent normal FFPE samples from 21 OSCC patients. Variants were annotated using multiple clinical databases, and stratified analyses were conducted across clinicopathological parameters including age, sex, tumor site, and TNM stage. Results: We identified extensive inter-patient variability in clinically relevant mutations, with intronic and missense variants being most frequent. A core set of 21 genes including ABCB1, CD44, IL6, PADI2 , and VKORC1 —carried pathogenic or drug-response variants in all patients. Ten tumor-exclusive mutations were observed, including TLR1 rs5743618, present in 100% of tumors. Pathway and network analyses highlighted enrichment in p53 signaling, immune pathways, and platinum-drug resistance. Stratified analyses showed no significant differences in mutation burden across TNM stages (Kruskal–Wallis p = 0.952), nodal status (p = 0.460), age, or sex. Polygenic risk score estimation revealed that 15 of 21 patients belonged to the highest-risk quartile, suggesting strong inherited susceptibility. Conclusion: FFPE-based genomic profiling successfully captured key OSCC-associated alterations and revealed region-specific mutation signatures. The predominance of germline and pharmacogenomic variants and strong PRS enrichment underscore the potential of incorporating hereditary risk assessment and targeted therapy selection into OSCC management strategies in this population.

Asian genomic datasets possess unparalleled potential to advance global understanding of human genetic diversity. Encompassing the world’s largest population pool with diverse ethnicities, these datasets capture comprehensive genomic variations shaped by heterogeneous socioeconomic conditions, climate exposures, and clinical environments. However, current national genome initiatives across Asia demonstrate substantial disunity, stemming from limited cross-border communication and collaborative infrastructure, thereby diminishing their collective impact on biomedical research and precision medicine development. The MedHackathon Asia 2025 catalyzed crucial dialogues toward establishing a regional community dedicated to three pillars: harmonized biobank collaboration, standardized genomic data protocols, and cooperative governance frameworks. This multidisciplinary convening brought together researchers, clinicians, bioinformaticians, and national precision medicine program leaders from across Asia to share best practices, identify implementation challenges, and formulate foundational strategies for sustained cooperation. This community review synthesizes critical outcomes from these deliberations, emphasizing the imperative for continuous regional collaboration while advocating for the development of sustainable architectures enabling: (1) equitable biobank resource sharing, (2) genomic data standardization, and (3) ethical governance models. Through consolidation and expansion of this emerging network, Asian nations are expected to lead transformative contributions to global genomic science while ensuring appropriate representation in biomedical innovation. Such coordinated efforts promise to accelerate healthcare advancements with equitable benefits extending throughout the region and worldwide.

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. Focusing on Dravidian linguistic groups, this study proposes a fourth putative source potentially branching from the basal Middle Eastern component that contributed 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 we identified in the Koraga tribe, 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 4400 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.

Background: Spiders play an indispensable role as natural regulators of insect populations, thereby maintaining ecological balance. Among these, spiders (order Araneae) represent one of the most diverse and ecologically significant groups, yet their study has often been marginalised due to research biases and a perceived lack of appeal. Aim: The present study aimed to document the taxonomic diversity and ecological guild structure of spiders (Araneae) across Dakshina Kannada District, Karnataka, India, highlighting their ecological roles and biogeographical distribution. Methodology: A three-year field survey employing systematic quadrat-based sampling and active search techniques was conducted to assess species richness, genus diversity, and functional guild composition. Sampling was carried out across seven taluks of Dakshina Kannada—Bantwal, Belthangady, Puttur, Mangalore, Moodabidri, Sulya, and Kadaba—including forest reserves and adjoining natural habitats, between September 2019 and September 2022. Specimens were collected using hand-picking, foliage beating, and ground-litter inspection, then preserved and identified to the adult stage using standard taxonomic keys and the World Spider Catalogue. Field photography supported morphological documentation. Data analysis focused on species richness, genus diversity, infraorder representation, and ecological guild classification (e.g., ambush hunters, web-builders, active hunters, and burrowers). Results: A total of 179 genera in 25 families of Araneomorphae, along with three families and six genera of Mygalomorphae, were recorded. Genera such as Leucauge, Neoscona, Tetragnatha, Poltys, and Thelacantha exhibited high species richness, reflecting adaptations to prey availability and habitat complexity. Ecological guild analysis revealed a broad spectrum of functional roles, from ground-dwelling burrowers and ambush predators to visually oriented jumping spiders and specialised web-builders. Distribution patterns spanned multiple biogeographical zones, indicating both local specialisation and widespread dispersal. Conclusion: Dakshina Kannada emerges as a biodiversity hotspot for spiders, with significant taxonomic richness and ecological versatility. Spiders function as key predators, contributing to ecosystem stability and natural pest regulation. The study provides a baseline for conservation planning, ecological monitoring, and future research on habitat-specialist species, emphasising the need to protect structurally complex habitats and integrate taxonomic, ecological, and behavioural perspectives for comprehensive biodiversity management.

The gotra system of exogamy is followed by the Brahmin caste group in India. This system restricts the marriage of individuals who belong to the same gotra. In genetic terms, each gotra forms an exogamous group within a population and thereby maintains a lineage. In Koṅkaṇī Sārasvata Brahmins, the gotras are patrilineal. To understand the genetic footprints of the gotras in this population, we reconstructed the maternal and paternal ancestry of 95 individuals using single nucleotide polymorphism (SNP) markers and Y-chromosomal short tandem repeats (Y-STR). The haplogroup distribution in the gotras showed a significant association with the paternal lineage (p < 0.005) as compared with the maternal lineage. We observed a similar significant association of the gotras with the Y-STR haplotypes. Our findings provide scientific evidence for an actively existing gotra system followed by the caste groups of India. Comparative analysis of 334 Indian Brahmins and over 1300 Eurasian Y-STR profiles showed that all Brahmin groups share a common R1a ancestor with Western Iranian males likely predating the Indo-Iranian split in northern Afghanistan. Whilst North Indian Brahmins shared the lineage with Afghanistan groups, the Koṅkaṇī and southern Brahmins may represent an earlier divergence. The persistence of common gotras throughout India implies the gotra system originated before Brahmin dispersal from north to south. These findings provide genetic evidence for the role of gotra system in shaping Brahmin population structure.

Conidae are a diverse group of predatory marine gastropods known for their highly potent venom, which may hold potential for biomedical applications. This study presents findings from a survey of Conidae species inhabiting the coastal shorelines of Karnataka. Shell measurements and morphometric analyses were conducted on four species: Conus biliosus, C. inscriptus, C. milneedwardsi, and Conasprella dictator. Molecular phylogenetic analysis of C. biliosus was performed using the partial mitochondrial cytochrome oxidase subunit I (COI) gene sequence.