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McCarthy, M. L.

Publications and source records attributed to McCarthy, M. L..

4 recordsLinked to original sources

Contemporary hybridization and localized genomic differentiation between grey seal subspecies

Grey seals are divided into two subspecies, Halichoerus grypus grypus in the Baltic Sea and H. grypus atlantica in the North Atlantic Ocean. Historically, intense hunting caused local extinctions of grey seals across their range and promoted geographical isolation of the subspecies. However, recent population recovery and recolonization have renewed their overlap in a contact zone in Danish and Swedish waters. Here, using whole-genome sequencing data from 119 individuals, we investigate the demographic history of grey seals, the divergence of the subspecies, and genomic signatures of local adaptation and potential hybridization in the contact zone. We estimate that divergence began approximately 10,000 years ago, with gene flow ceasing 2000 years ago. We detect peaks of high genetic differentiation near genes with putative functions in osmo- and thermoregulation, consistent with salinity and temperature differences between the Baltic Sea and the North Atlantic. As evidence of the geographic isolation breaking up, we report a hybrid individual in the southwest Baltic contact zone, with Baltic maternal and Atlantic paternal ancestry, and identify a migrant of Baltic origin in the North Sea. Our study illustrates how local environmental variation and long-term hunting pressure have contributed to divergence between mammal subspecies over a short evolutionary timescale, with recent population recovery, recolonization and hybridization reshaping gene flow dynamics. Broadly, our work emphasizes the importance of studying evolutionary processes amid anthropogenic influences, including both disturbances and conservation successes, where demographic fluctuations, range shifts, altered gene flow, and adaptation to changing environments interact in complex, potentially consequential ways.

evolutionary biology↗

Breath to genome: Whole genome sequencing of large whales from blow sampling

Preserving biodiversity requires the genetic monitoring of wild populations, but traditional invasive sampling techniques can impact animal welfare. For cetaceans, a promising non-invasive approach is the collection of exhaled respiratory vapour, or blow, to generate individual genetic profiles. Here, we demonstrate the feasibility of generating whole genomes from the blow of humpback whales with data of sufficient quality for population genomics. A total of 58 blow samples from 26 Northeast Pacific humpback whales (Megaptera novaeangliae) were collected in Gitgaat First Nation territory using a commercially available drone. The high endogenous content at 84% on average allowed us to generate low-coverage nuclear genomes (mean 2.3x, range 0.2x-3.5x) and high coverage mitochondrial genomes (mean 94x, range 7.7x-151.3x) for inference of population structure, diversity and phylogenomics. The reliability of the blow-derived genomes was demonstrated by direct comparison between replicate blow samples, as well as paired tissue samples from a subset of individuals.

genomics↗

Palaeoproteomic identification of a whale bone tool from Bronze Age Heiloo, the Netherlands

Identification of the taxonomic origin of bone tools is an important, but often complicated, component of studying past societies. The species used for bone tool production provide insight into what species were exploited, potentially how, and for what purpose. Additionally, the choice of species may have important implications for the place of the tool within the larger toolkit. However, the taxonomic identification of bone tools is often unsuccessful based on morphology. Here we apply three palaeoproteomic techniques, ZooMS, SPIN-like data analysis and a targeted database search to narrow down the taxonomic identification of an unusually large Bronze Age bone tool from Heiloo, the Netherlands, to the North Atlantic right whale (Eubalaena glacialis). Additionally, the tool was investigated for use-wear, which showed that it was likely used for the processing of plant fibres. The assignment of the tool as whale bone adds support to the exploitation of whales by coastal Bronze Age populations, not just for meat, as previously suggested, but also for bone as a resource for tool production. We know of no other parallel of a bone tool such as this in terms of size, use, hafting, and taxonomic identity.

evolutionary biology↗

Influence of genetic variants on gene expression in human pancreatic islets - implications for type 2 diabetes

Most signals detected by genome-wide association studies map to non-coding sequence and their tissue-specific effects influence transcriptional regulation. However, many key tissues and cell-types required for appropriate functional inference are absent from large-scale resources such as ENCODE and GTEx. We explored the relationship between genetic variants influencing predisposition to type 2 diabetes (T2D) and related glycemic traits, and human pancreatic islet transcription using RNA-Seq and genotyping data from 420 islet donors. We find: (a) eQTLs have a variable replication rate across the 44 GTEx tissues (<73%), indicating that our study captured islet-specific cis-eQTL signals; (b) islet eQTL signals show marked overlap with islet epigenome annotation, though eQTL effect size is reduced in the stretch enhancers most strongly implicated in GWAS signal location; (c) selective enrichment of islet eQTL overlap with the subset of T2D variants implicated in islet dysfunction; and (d) colocalization between islet eQTLs and variants influencing T2D or related glycemic traits, delivering candidate effector transcripts at 23 loci, including DGKB and TCF7L2. Our findings illustrate the advantages of performing functional and regulatory studies in tissues of greatest disease-relevance while expanding our mechanistic insights into complex traits association loci activity with an expanded list of putative transcripts implicated in T2D development.

genomics↗