Biology subjects

Mak, S. S. T.

Publications and source records attributed to Mak, S. S. T..

6 recordsLinked to original sources

bioRxiv2026

Convergent molecular changes in populations of two pipefish species in the Baltic Sea

While studies of molecular convergence typically focus on species that independently evolved similar phenotypes, similar questions can be asked among populations of different species adapting to the same environment. Here, we study the Baltic Sea environmental gradient and two co-distributed, ecologically similar, but distantly related pipefish species, the broadnosed pipefish (Syngnathus typhle) and the straightnose pipefish (Nerophis ophidion), to test whether independent colonization of the Baltic Sea led to similar population structure and caused convergence at different genomic levels. Using a new diploid genome for S. typhle and whole-genome resequencing data (N=99 for S. typhle; N=81 for N. ophidion) across seven locations from France to Finland, we identified stronger population structure in S. typhle than in N. ophidion, while both species showed differentiation between North Atlantic, Danish Straits, and Baltic Sea populations. Genetic diversity was lower in Baltic populations, particularly in S. typhle. Cross-species comparisons of Baltic populations revealed contrasting chromosome-level patterns of genomic differentiation, with differentiation spread across the genome in S. typhle but concentrated in specific chromosomal regions in N. ophidion. Nonetheless, we identified multiple orthologous genes and SNPs showing convergent differentiation in the Baltic populations of both species, including genes related to metabolism, immunity, and regulatory functions. Overall, we identified molecular convergence at the gene and nucleotide level between Baltic populations of distantly related pipefish species, while convergence was limited at broader genomic scales. These findings suggest that similar environmental pressures can repeatedly target specific genetic elements even when genomic backgrounds and population structures differ.

evolutionary biology↗

bioRxiv2026

Recovery of genomic and transcriptomic profiles from decades-old FFPE brain tissues

Neurological, neurodegenerative, and psychiatric disorders impose substantial morbidity and disability worldwide, yet their molecular basis remains incompletely understood, in part due to limited access to human brain tissue. The Danish Brain Collection, comprising brains from individuals who lived in Danish psychiatric institutions from the 1940s to the 1980s, represents a unique but largely untapped resource for retrospective molecular investigation. Here, we assess the feasibility of extracting and sequencing DNA and RNA from decades-old FFPE brain tissue. We systematically evaluate how extraction and library preparation strategies influence nucleic acid yield and quality, and show that RNA end-repair prior to library preparation substantially enhances transcript diversity, improving data quality from highly degraded samples. Despite extensive fragmentation, we recover biologically informative transcriptomic profiles, including protein-coding and microRNA expression profiles that retain tissue-specific signatures. These results establish the Danish Brain Collection as a viable resource for genomic and transcriptomic analyses and demonstrate the broader potential of archival FFPE tissues for large-scale molecular studies.

molecular biology↗

bioRxiv2026

The population structure and genetic health of European wolves

Once nearly eradicated from Europe, grey wolves (Canis lupus) have recently undergone a remarkable demographic recovery, but their long-term survival remains precarious. By analyzing 1,001 genomes, we uncover a mosaic of distinct evolutionary lineages, not a single recovering population. Northern populations exhibit Asian wolf ancestry, while southern populations preserve ancient Holocene lineages, with dog introgression varying by region. Isolated wolves from the Scandinavian, Italian, and Iberian peninsulas harbored particularly high levels of inbreeding and fixed deleterious mutations. Signatures of genome erosion were widespread across Europe, with many populations falling well short of the minimum size recommended for long-term survival. Our study reveals the complex tapestry of wolf ancestry and variation across Europe, which calls for nuanced, regional conservation plans founded in genetic monitoring.

genomics↗

bioRxiv2025

The effect of different milk pretreatment methods on microbiome community development during Herrgards cheese production and ripening.

One of the biggest challenges for dairy producers is the substantial variability in final product properties caused by changes in the production environment. In cheese production, this variation is influenced by several factors, particularly the milk base and its pretreatment, which shape the microbiome throughout the process and ultimately affect the cheeses organoleptic characteristics. To examine the impact of three different pre-treatments for pasteurised milk-- microfiltration, protein fortification, and only pasteurisation (control)-- on microbiome dynamics, we generated metagenome sequencing data from 14 cheese production steps across these three production trials at a Danish dairy factory. We constructed three metagenomic co-assemblies, identifying nine high-quality metagenome-assembled genomes (MAGs). Our analysis revealed that a specific strain of Lactococcus lactis dominates the process, while other minor bacterial species persist at very low abundances (<1%), contributing non-negligibly to product properties. Notably, Clostridium tyrobutyricum, a known dairy spoilage bacterium, was present at low levels in pasteurised-only and protein-fortified milk trials but was nearly absent in microfiltered milk. To enhance our analyses, we implemented KHILL, a novel k-mer-based method applied directly to raw sequencing reads, which facilitates metagenomic co-assembly and enables early detection of unwanted microorganisms. Our findings provide industrial dairy producers with a comprehensive view of microbial dynamics during cheese production, offering insights to improve process consistency and product quality.

microbiology↗

bioRxiv2023

Three-dimensional genome architecture persists in a 52,000-year-old woolly mammoth skin sample

Ancient DNA (aDNA) sequencing analysis typically involves alignment to a modern reference genome assembly from a related species. Since aDNA molecules are fragmentary, these alignments yield information about small-scale differences, but provide no information about larger features such as the chromosome structure of ancient species. We report the genome assembly of a female Late Pleistocene woolly mammoth (Mammuthus primigenius) with twenty-eight chromosome-length scaffolds, generated using mammoth skin preserved in permafrost for roughly 52,000 years. We began by creating a modified Hi-C protocol, dubbed PaleoHi-C, optimized for ancient samples, and using it to map chromatin contacts in a woolly mammoth. Next, we developed "reference-assisted 3D genome assembly," which begins with a reference genome assembly from a related species, and uses Hi-C and DNA-Seq data from a target species to split, order, orient, and correct sequences on the basis of their 3D proximity, yielding accurate chromosome-length scaffolds for the target species. By means of this reference-assisted 3D genome assembly, PaleoHi-C data reveals the 3D architecture of a woolly mammoth genome, including chromosome territories, compartments, domains, and loops. The active (A) and inactive (B) genome compartments in mammoth skin more closely resemble those observed in Asian elephant skin than the compartmentalization patterns seen in other Asian elephant tissues. Differences in compartmentalization between these skin samples reveal sequences whose transcription was potentially altered in mammoth. We observe a tetradic structure for the inactive X chromosome in mammoth, distinct from the bipartite architecture seen in human and mouse. Generating chromosome-length genome assemblies for two other elephantids (Asian and African elephant), we find that the overall karyotype, and this tetradic Xi structure, are conserved throughout the clade. These results illustrate that cell-type specific epigenetic information can be preserved in ancient samples, in the form of DNA geometry, and that it may be feasible to perform de novo genome assembly of some extinct species.

genomics↗

bioRxiv2023

Conservation implications of elucidating the Korean wolf taxonomic ambiguity through whole-genome sequencing

The taxonomic status of the now likely extirpated Korean Peninsula wolf has been extensively debated, with some arguing it represents an independent wolf lineage, Canis coreanus. To investigate the Korean wolf genetic affiliations and their taxonomic implications, we sequenced and analysed the genomes of a historical Korean wolf dated to the beginning of the 20th century, and a captive wolf originally located at the Pyongyang Central Zoo. Our results indicated that the Korean wolf bears similar genetic ancestry to other regional East Asian populations, therefore suggesting it is not a distinct taxonomic lineage. We identified regional patterns of wolf population structure and admixture in East Asia with potential conservation consequences in the Korean Peninsula and on a regional scale. We find the Korean wolf has similar diversity and inbreeding to other East Asian wolves. Finally, we show that, in contrast to the historical sample, the captive wolf is more genetically similar to wolves from the Tibetan Plateau, hence, Korean wolf conservation programs might not benefit from the inclusion of this specimen.

evolutionary biology↗