Biology subjects

Kiebler, A.

Publications and source records attributed to Kiebler, A..

5 recordsLinked to original sources

bioRxiv2026

Chromosome-level reference genome assembly of the Saimaa ringed seal (Pusa saimensis) - an ancient glacial relict landlocked pinniped

We present a high-quality chromosome-level reference genome for the Saimaa ringed seal (Pusa saimensis), an endangered freshwater pinniped endemic to Lake Saimaa, Finland. The assembly spans 2.353 Gb and comprises 15 autosomes together with the X and Y sex chromosomes. Using Oxford Nanopore Technologies (ONT) long-read sequencing and Hi-C scaffolding, we achieved a telomere-to-telomere assembly for all chromosomes, except the Y chromosome. Genome annotation identified approximately 21,800 protein-coding genes, consistent with other mammalian genomes. Assembly completeness was high, with BUSCO analysis recovering 99.6% of expected complete single-copy genes (98.2% single-copy and 1.3% duplicated). Comparative analyses revealed a highly conserved chromosomal architecture, with only minor syntenic differences relative to other pinniped chromosome-level assemblies. Previously described cytogenetic fusion events in Phocidae were confirmed (chromosomes 2 and 7). A translocation between chromosomes 6 and 7 distinguishes phocids from the otariids. In general, more distantly related taxa exhibit an increasing degree of intrachromosomal rearrangements. Notably, we identified a large intrachromosomal rearrangement on chromosome 2 that appears specific to the Saimaa ringed seal. Phylogenomic analysis based on 9,226 single-copy orthologues placed the Saimaa ringed seal as a sister lineage to the Baltic ringed seal (Pusa hispida botnica), while confirming also other established evolutionary relationships among pinnipeds. Comparative gene family analysis between the Saimaa ringed seal and the closely related grey seal (Halichoerus grypus) revealed lineage-specific differences driven by a limited number of gene families. In the Saimaa ringed seal, expansions were observed in ion transport, cytoskeleton, and regulatory genes, potentially reflecting adaptation to freshwater conditions. In contrast, the grey seal showed expansions in olfaction, immune-and spermatogenesis-associated gene families, including MAGE/MIA genes, consistent with differences in ecology and mating systems. This reference genome provides an important resource for studies of pinniped genome evolution, as well as conservation and population genomics of the Saimaa ringed seal, facilitating future work on genetic diversity, inbreeding, mutational load and adaptive potential in this highly endangered species.

genomics↗

bioRxiv2025

Near-chromosome-level genome assembly and transcriptome of the Ural owl, Strix uralensis PALLAS, 1771

The Ural owl (Strix uralensis) is a large member of the Strigidae family and inhabits Eurasian forests ranging from Germany to Japan. However, it faces increased range reduction, particularly at its southwestern distribution edges. Despite being considered "Least Concern" by the IUCN, local populations have become threatened in Central Europe due to severe habitat loss. Reintroduction programs aim to restore these populations by closing distribution gaps and facilitating natural recolonization of suitable habitats. To support these efforts, genomic resources have become an established tool to assess genetic diversity, geographic structure, and potential inbreeding, crucial for maintaining the genetic health and adaptability of newly established populations. Here, we present a de novo genome assembly and transcriptome of the Ural owl based on ONT long-reads, Omni-C Illumina short-reads, and RNASeq data. The final assembly has a total length of 1.26 Gb, of which 96.37 % are anchored into the 41 largest scaffolds. The contig and scaffold N50 values of 88.6 Mb and 21.7 Mb, respectively, a BUSCO/compleasm completeness of 97.5 %/99.65 % and k-mer completeness of 95.18 %, emphasize the high quality of this assembly. Furthermore, annotation of the assembly identified 17,650 genes and a repeat content of 12.48 %. This new highly contiguous and chromosome-scale assembly will greatly benefit Ural owl conservation management by informing reintroduction programs about the species genetic health and contributing a valuable resource to study genetic function in greater detail across the whole Strigidae family.

genomics↗

bioRxiv2025

A Prelude to Conservation Genomics: First Chromosome-Level Genome Assembly of a Flying Squirrel (Pteromyini: Pteromys volans)

The Siberian flying squirrel (Pteromys volans) represents the only European Pteromyini species. Thus, it is biogeographically unique due to its specialised anatomy and biology as a volant rodent. As a result of habitat fragmentation and destruction, Siberian flying squirrels experience severe and ongoing population declines throughout most of their distribution. While considered Least Concern throughout their immense Eurasian distribution, this species is red-listed as Vulnerable and even Critically Endangered in parts of its range. More knowledge about the population structure and overall biology is needed to improve conservation efforts for this umbrella and flagship species of old-growth boreal forests. Here, we present the first chromosome-level genome assembly of any Pteromyini, represented by P. volans (Uoulu_pteVol_1.0). The final assembly has a total length of 2.85 Gbp in 19 chromosome-scale scaffolds with only minor differences in the chromosomal structure compared to other Sciuridae. All chromosome-scale scaffolds show indications for telomeres at both ends; the N50 value and busco as well as k-mer completeness scores are high with 157.39 Mbp and 97 - 99 %, respectively, indicating chromosome-level quality of the assembly. Based on whole-genome data from 17 rodent species, P. volans clusters according to known evolutionary relationships. Additionally, we present a new 16,511 bp long mitogenome unveiling differences from known conspecific mitogenomes. We propose the utility of the new reference genome for further research and development of conservation-applied genetic methods.

genomics↗

bioRxiv2024

Miniaturised laboratorial equipment as a solution to implement conservation genetics tools and education in West African countries with limited infrastructures: an application to the study of illegal wildlife trade in Guinea-Bissau

Illegal wildlife trade (IWT) is considered one of the largest global illegal industries that negatively impacts biodiversity and sustainable development worldwide. DNA barcoding coupled with high-throughput sequencing has been shown to be useful in identifying taxa affected by IWT and has been routinely used during the last decades. However, for countries lacking laboratory infrastructures and sequencing units or trained staff, the application of DNA barcoding tools in conservation actions and policies is limited and dependent on slow sample export processes and molecular analyses carried out abroad. Guinea-Bissau (GB) is located on the West-African coast and has one of the lowest human development indices worldwide, while being a biodiversity hotspot facing many conservation challenges due to illegal commercial hunting, and trade in bushmeat and live individuals. Here, we explore the potential of using inexpensive and portable miniaturised laboratory equipment (MLE) to i) identify species illegally traded in GB using DNA barcoding methods and ii) to improve molecular biology and conservation genetic education and training in GB. Our overarching aim is to raise awareness of the current gap between the need to apply conservation genetic technologies in GB and the inability to do so due to a lack of laboratory infrastructures, sequencing units and opportunities for molecular biology training. We show that MLE can be a solution to accelerate the use of DNA barcoding methods to understand IWT and to train students, technicians and staff from governmental agencies dedicated to investigating environmental crimes, ultimately advancing the discipline of conservation genetics in the country.

zoology↗

bioRxiv2020

Genomic basis of drought resistance in Fagus sylvatica

In the course of global climate change, central Europe is experiencing more frequent and prolonged periods of drought. The drought years 2018 and 2019 affected European beeches (Fagus sylvatica L.) differently: even in the same stand, drought damaged trees neighboured healthy trees, suggesting that the genotype rather than the environment was responsible for this conspicuous pattern. We used this natural experiment to study the genomic basis of drought resistance with Pool-GWAS. Contrasting the extreme phenotypes identified 106 significantly associated SNPs throughout the genome. Most annotated genes with associated SNPs (>70%) were previously implicated in the drought reaction of plants. Non-synonymous substitutions led either to a functional amino acid exchange or premature termination. A SNP-assay with 70 loci allowed predicting drought phenotype in 98.6% of a validation sample of 92 trees. Drought resistance in European beech is a moderately polygenic trait that should respond well to natural selection, selective management, and breeding. Impact StatementEuropean beech harbours substantial genetic variation at genomic loci associated with drought resistance and the loci identified in this study can help to accelerate and monitor adaptation to climate change.

plant biology↗