Biology subjects

Johnsen, A.

Publications and source records attributed to Johnsen, A..

4 recordsLinked to original sources

bioRxiv2026

A chromosome-level assembly of an aquatic passerine bird, the northern white-throated dipper, Cinclus cinclus cinclus (Linnaeus, 1758)

We present a chromosome-level genome assembly of a female Norwegian white-throated dipper (Cinclus cinclus cinclus) generated using Oxford Nanopore Technologies (ONT) long reads and Hi-C scaffolding. The assembly comprises two pseudo-haplotypes, hap1 (1186 Mb) and hap2 (1115 Mb), with 96.7% and 94.4% of sequences assigned to chromosome-scale scaffolds, respectively. Both pseudo-haplotypes contain 40 autosomes, with the Z and W sex chromosomes assigned to hap1. Compared with the PacBio HiFi-based C. c. gularis reference assembly bCinCin1.1.pri, which contains 38 autosomes, sequence represented as a single dot-chromosome (chr 36) is resolved into three distinct dot-chromosomes (chr 36, 39, and 40), a configuration supported by Hi-C contact patterns. BUSCO completeness was high for hap1 (99.2%) and hap2 (95.0%), with 19,003 and 17,746 predicted protein-coding genes, respectively. Compared with the HiFi-based C. c. gularis reference and HiFi-based assemblies generated from the same individual, the ONT-derived assemblies were substantially less fragmented and recovered more sequence from the smallest chromosomes. Synteny was otherwise largely conserved between subspecies. HiFi depletion increased strongly from macrochromosomes to micro- and dot-chromosomes, and HiFi-depleted regions were enriched for repeats and predicted non-B-DNA-associated features, particularly G-quadruplexes and direct repeats, whereas ONT coverage remained comparatively stable. These results show that conventional genome-wide assembly metrics can obscure substantial differences in the recovery of repeat-rich avian dot-chromosomes and highlight the value of chromosome-aware evaluation and ONT sequencing for recovering these regions.

genomics↗

bioRxiv2026

A haplotype-resolved bluethroat (Luscinia s. svecica) genome assembly uncovers the complex MHC region

We describe a chromosome-level, haplotype-resolved genome assembly from a female bluethroat (Luscinia s. svecica). The assembly comprises two pseudo-haplotypes of 1461 Mb and 1171 Mb, with 77.4% and 88.4% scaffolded into 40 autosomal chromosomes and the W and Z sex chromosomes (haplotype one). Assembly completeness is high (BUSCO 99.2% and 94.9%), with 22,462 and 18,769 annotated protein-coding genes for haplotypes one and two, respectively. The use of Oxford Nanopore Technologies sequencing enables resolution of genomic regions that are often fragmented in genome assemblies, including the hypervariable Major Histocompatibility Complex (MHC). We find that MHC loci include both the canonical organization of tandemly duplicated MHCII{beta} genes with a single MHCIIA, and a distinct arrangement in which MHCI and MHCII{beta} loci are interspersed in intermixed arrays, and that substantial structural differences between haplotypes are directly resolved in the assembly.

genomics↗

bioRxiv2025

Immunogenetic diversity and haemosporidian parasitization in European bluethroats (Luscinia svecica): do diverse genes warrant fewer parasites?

The health and fitness of vertebrates are constantly challenged by environmental stresses, which include exposure to diseases that pose significant evolutionary pressures on immune genes. The bluethroat (Luscinia svecica), has been extensively studied for its haemosporidian parasite diversity across Europe showing a high diversity and prevalence rate. Given possible evolutionary pressure exerted by these pathogens, the present study used high-throughput amplicon sequencing to explore the genetic diversity and selection mechanisms of three immunity genes (MHC I exon 3, TLR3 and TLR4) in three European bluethroat populations. Specifically, we seek to (1) characterize the genetic diversity of these immunity genes, (2) detect selection signatures shaping their diversity, and (3) investigate the relationship between these immunity genes and haemosporidian parasites (Plasmodium and Leucocytozoon). Selection analysis was conducted using FUBAR and SLAC methods, whereas GLM regression was employed to explore the correlation between MHC genes and haemosporidian parasites. Despite geographical and ecological differences, nucleotide and haplotype diversities were similar across all populations. Most frequent haplotypes were found to be shared by both red-spotted (L. s. svecica) and white-spotted (L. s. cyanecula) bluethroat subspecies. The "insular" Krkono[s]e population, despite being biogeographically peripheral and experiencing minor inbreeding, did not show significantly reduced immunogenetic diversity. Selection analysis revealed a higher presence of purifying selection in TLR genes and a combination of purifying and diversifying selection in the MHC gene, reflecting their evolutionary constraints and functional importance, while haemosporidian parasite pressure was not a major driver of genetic diversity.

zoology↗

bioRxiv2024

Assessing reliability and accuracy of qPCR, dPCR and ddPCR for estimating mtDNA copy number in songbird blood and sperm cells

Mitochondrial DNA copy number varies across species, individuals and cell types. Two avian cell types carrying a relatively low number of mitochondria are the red blood cells and spermatozoa. While previous studies investigating variation of mitochondrial abundance in animal sperm have generally used quantitative PCR (qPCR), this method shows potential limitations when quantifying low abundant targets. To mitigate such issues, we investigated and compared the reliability and accuracy of qPCR, digital PCR (dPCR) and droplet digital PCR (ddPCR) to quantify high and low concentration DNA. Using synthetic DNA, we found that both dPCR and ddPCR displayed lower Limit of Detection and Limit of Quantification than qPCR. Using DNA extracted from blood and sperm cells of Eurasian Siskin, we found that qPCR, dPCR and ddPCR reliably quantified mitochondrial DNA in sperm samples, but showed significant differences when analyzing typically lower levels of mtDNA in blood. We found that ddPCR consistently showed lower variation among replicates. These analyses provide critical insights and recommendations for future studies aiming to quantify target mtDNA. Our study indicates that dPCR and ddPCR are the preferred methods when working with samples with low abundance of mtDNA.

molecular biology↗