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

Abstract

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.