Biology subjects

Catchen, J. M.

Publications and source records attributed to Catchen, J. M..

At least 19 recordsLinked to original sources

bioRxiv2026

Transcriptomic differences underlying fin sexual dichromatism and male color polymorphism in bluefin killifish (Lucania goodei)

Color polymorphisms offer a powerful lens for examining how selection shapes genetic and phenotypic variation. Genomic analyses of color variation provide deeper insight into how genetic differences and phenotypic plasticity contribute to trait variation. Here, we use the bluefin killifish (Lucania goodei) to study this relationship. Male fins can display either red or yellow coloration based on pigments (pterins) or blue structural coloration (iridophores) often induced in UV-depauperate environments. Female fins lack pigmentation. To characterize the molecular basis of this variation, we assembled a high-quality genome and examined gene expression in the anal fins of male and female bluefin killifish to identify the molecular mechanisms underlying color variation. Our gene expression analysis found sex differences driven by male-biased upregulation of melanin synthesis and canonical pigment pathway genes. We additionally identified that the progesterone sex receptor was upregulated in females. Among male color morphs, several genes involved in xanthophore and iridophore formation differed between blue and non-blue males, including the transcription factor tfec, and iridophore-patterning genes atic, pnp4a, and sox10. Extraocular opsins, which are involved in non-image-forming light perception, were expressed at low levels across all fins, but showed population- and morph-specific patterns; notably, rgrb (retinal G protein coupled receptor b) was upregulated in blue males. To the best of our knowledge, this is the first report of an extraocular opsin varying as a function of population and color morph. Together, these results identify the pigment pathways underlying male-limited color polymorphisms and reveal candidate genes likely involved in light-sensitive phenotypic plasticity.

evolutionary biology↗

bioRxiv2026

Synolog: A Scalable Synteny-Based Framework for Genome Architecture Characterization

Detailing the genomic architecture across multiple organisms has been a task performed for decades. The continuing growth of genomic datasets not only serves as a resource for studying genome evolution but warrants the availability of scalable and user-friendly software for processing these datasets. Here, we present Synolog, a bioinformatic toolkit that can automatically identify orthologs for both protein-coding and non-coding genes, synteny clusters across two or more genomes, as well as retrogenes, and segmental duplications. Applying Synolog, we illustrate cases of local gene expansions in ecologically disparate turtle species, identify synteny clusters across hundreds of millions of years of metazoan evolution, and reconstruct chromosome-level assemblies in teleosts using the inferred synteny clusters; all using its integrated visual features. In parallel, we compare our orthogroup method to that of commonly used software and note the tradeoffs of making inferences solely based on sequence similarity versus a synteny-based approach.

bioinformatics↗

bioRxiv2024

The genome of the cryopelagic Antarctic bald notothen, Trematomus borchgrevinki

The Antarctic bald notothen, Trematomus borchgrevinki (Notothenioidae) occupies a high latitude, ice-laden environment and represents an extreme example of cold-specialization among fishes. We present the first, high quality, long-read genome of a female T. borchgrevinki individual comprised of 23 putative chromosomes, the largest of which is 65 megabasepairs (Mbp) in length. The total length of the genome 935.13 Mbp, composed of 2,095 scaffolds, with a scaffold N50 of 42.80 Mbp. Annotation yielded 22,567 protein coding genes while 54.75% of the genome was occupied by repetitive elements; an analysis of repeats demonstrated that an expansion occurred in recent time. Conserved synteny analysis revealed that the genome architecture of T. borchgrevinki is largely maintained with other members of the notothenioid clade, although several significant translocations and inversions are present, including the fusion of orthologous chromosomes 8 and 11 into a single element. This genome will serve as a cold-specialized model for comparisons to other members of the notothenioid adaptive radiation.

genomics↗

bioRxiv2024

Genomic introgression between critically endangered and stable species of Darwin's tree finches on the Galapagos Islands

Natural hybridisation among rare or endangered species and stable congenerics is increasingly topical for the conservation of species-level diversity under anthropogenic impacts. Evidence for beneficial genes being introgressed into or selected for in hybrids raises concurrent questions about its evolutionary significance. In Darwins tree finches on the island of Floreana (Galapagos Islands, Ecuador), the Critically Endangered medium tree finch (Camarhynchus pauper) undergoes introgression with the stable small tree finch (Camarhynchus parvulus), and hybrids regularly backcross with C. parvulus. Earlier studies in 2005-2013 documented an increase in the frequency of Camarhynchus hybridisation on Floreana using field-based and microsatellite data. With single nucleotide polymorphism (SNP) data from the same Floreana tree finches sampled in 2005 and 2013 (n = 95), we examine genome-wide divergence across parental and hybrid birds and evidence for selection in hybrids. In assessing previous estimates of introgression we found that just 18% of previously assigned hybrid birds based on microsatellites were assigned to hybrids using SNPs. Over half of the previously assigned hybrids (63%) were reassigned to C. parvulus, though parental species showed concordance with prior assignments. Of 4869 private alleles found in hybrid birds, 348 were at a high frequency ([≥]0.30) that exceeded their parental species of origin 89-96% of the time. Across the two years, 3436 (70.6%) private alleles underwent a substantial ([≥]0.30) allele frequency increase or decrease. Of these, 28 private alleles were identified as candidate loci under selection via local PCA genome scans and outlier tests. Alleles were annotated to genes associated with inflammation, immunity, brain function and development. We provide evidence that introgression among a critically endangered and stable species of Darwins tree finch is being retained by selection across years and may aid in the retention of genetic diversity in birds threatened with extinction.

evolutionary biology↗

bioRxiv2024

Combining population genomics and transcriptomics to identify signatures of metal tolerance in brown trout inhabiting metal-polluted rivers

Industrial pollution is a major driver of ecosystem degradation, but it can also act as a driver of contemporary evolution. As a result of intense mining activity during the Industrial Revolution, several rivers across the southwest of England are polluted with high concentrations of metals. Despite the documented negative impacts of ongoing metal pollution, brown trout (Salmo trutta L.) survive and thrive in many of these metal-impacted rivers. We used population genomics, transcriptomics, and metal burdens to investigate the genomic and transcriptomic signatures of potential metal tolerance. RADseq analysis of six populations (originating from three metal-impacted and three control rivers) revealed strong genetic substructuring between impacted and control populations. We identified selection signatures at 122 loci, including genes related to metal homeostasis and oxidative stress. Trout sampled from metal-impacted rivers exhibited significantly higher tissue concentrations of cadmium, copper, nickel, and zinc, which remained elevated after 11 days in metal-free water. After depuration, we used RNAseq to quantify gene expression differences between metal-impacted and control trout, identifying 2,042 differentially expressed genes (DEGs) in the gill, and 311 DEGs in the liver. Transcriptomic signatures in the gill were enriched for genes involved in ion transport processes, metal homeostasis, oxidative stress, hypoxia and response to xenobiotics. Our findings reveal shared genomic and transcriptomic pathways involved in detoxification, oxidative stress responses, and ion regulation. Overall, our results demonstrate the diverse effects of metal pollution in shaping both neutral and adaptive genetic variation, whilst also highlighting the potential role of constitutive gene expression in promoting metal tolerance.

evolutionary biology↗

bioRxiv2024

Klumpy: A tool to evaluate the integrity of long-read genome assemblies and illusive sequence motifs

The improvement and decreasing costs of third-generation sequencing technologies has widened the scope of biological questions researchers can address with de novo genome assemblies. With the increasing number of reference genomes, validating their integrity with minimal overhead is vital for establishing confident results in their applications. Here, we present Klumpy, a tool for detecting and visualizing both misassembled regions in a genome assembly and genetic elements (e.g., genes, promotors, or transposable elements) of interest in a set of sequences. By leveraging the initial raw reads in combination with their respective genome assembly, we illustrate Klumpys utility by investigating antifreeze glycoprotein (afgp) loci across two icefishes, by searching for a reported absent gene in the northern snakehead fish, and by scanning the reference genomes of a mudskipper and bumblebee for misassembled regions. In the two former cases, we were able to provide support for the noncanonical placement of an afgp locus in the icefishes and locate the missing snakehead gene. Furthermore, our genome scans were able to identify an cryptic locus in the mudskipper reference genome, and identify a putative repetitive element shared amongst several species of bees.

bioinformatics↗

bioRxiv2023

Genomic analysis supports Cape Lion population connectivity prior to colonial eradication and extinction

Extinct Cape lions (Panthera leo melanochaitus) formerly ranged throughout the grassland plains of the "Cape Flats" in what is today known as the Western Cape Province, South Africa. Cape lions were likely eradicated because of overhunting and habitat loss after European colonization. European naturalists originally described Cape lions as "Black-maned lions" and claimed that they were phenotypically distinct. However, other depictions and historical descriptions of lions from the Cape report mixed or light coloration and without black or extensively developed manes. These findings suggest that, rather than forming a distinct population, Cape lions may have had phenotypic and genotypic variation similar to other African lions. Here we investigate extinct Cape lion genome characteristics, population dynamics and genetic distinctiveness prior to their extinction. We generated genomic data from two historic Cape lions to compare to 118 existing high-coverage mitogenomes, and low-coverage nuclear genomes of 53 lions from 13 African countries. We show that, before their eradication, lions from the Cape Flats had diverse mitogenomes and nuclear genomes that clustered with lions from both southern and eastern Africa. Cape lions had high genome-wide heterozygosity and low inbreeding coefficients, indicating that populations in the Cape Flats went extinct so rapidly that genomic effects associated with long-term small population size and isolation were not detectable. Our findings do not support the characterization of Cape lions as phylogeographically distinct, as originally put forth by some European naturalists, but rather highlights how alternative knowledge-systems, e.g., Indigenous perspectives, could potentially further inform interpretations of species life histories.

evolutionary biology↗

bioRxiv2023

Highly resolved genome assembly and comparative transcriptome profiling reveal genes related to developmental stages of the tapeworm Ligula intestinalis

Ligula intestinalis (Cestoda: Diphyllobothriidae) is an emerging model organism for studies on parasite population biology and host-parasite interactions. However, a well resolved genome and catalogue of its gene content has not been previously developed. Here, we present the first genome assembly of L. intestinalis, based on Oxford Nanopore Technologies, Illumina and Omni-C sequencing methodologies. We use transcriptome profiling to compare plerocercoid larvae and adult worms and identify differentially expressed genes associated with these life stages. The genome assembly is 775.5 Mbp in size, with scaffold N50 value of 118 Mbp and encodes 27,256 predicted protein-coding sequences. Over 60% of the genome consists of repetitive sequences. Synteny analyses showed that the 10 largest scaffolds representing 75% of the genome display high correspondence to full chromosomes of cyclophyllidean tapeworms. Mapping RNA-seq data to the new reference genome we identified 3,922 differentially expressed genes in adults compared to plerocercoids. Gene Ontology analyses revealed overrepresented genes involved in reproductive development of the adult stage (e.g. sperm production) and significantly enriched DEGs associated with immune evasion of plerocercoids in their fish host. This study provides the first insights into the molecular biology of L. intestinalis and provides the most highly contiguous assembly to date of a diphyllobothriid tapeworm useful for population and comparative genomic investigations of parasitic flatworms.

genomics↗

bioRxiv2023

Chromosome-Level Genome Assembly and Circadian Gene Repertoire of the Patagonia blennie Eleginops maclovinus - the closest ancestral proxy of Antarctic cryonotothenioids

The basal S. American notothenioid Eleginops maclovinus (Patagonia blennie) occupies a uniquely important phylogenetic position in Notothenioidei as the singular closest sister species to the Antarctic cryonotothenioid fishes. Its genome and the traits encoded therein would be nearest representatives of the temperate ancestor from which the Antarctic clade arose, providing an ancestral reference for deducing polar derived changes. In this study, we generated a gene- and chromosome-complete assembly of E. maclovinus genome using long read sequencing and HiC scaffolding. We compared its genome architecture with the more basally divergent Cottoperca gobio and the derived genomes of nine cryonotothenioids representing all five Antarctic families. We additionally curated its repertoire of circadian rhythm genes, ascertained their functionality by transcriptome sequencing, and compared its pattern of gene retention with C. gobio and the derived cryonotothenioids. Both analyses found E. maclovinus to share greater conservation with the Antarctic clade, solidifying its evolutionary status as direct sister and best suited ancestral proxy of cryonotothenioids. The high quality genome of E. maclovinus will facilitate inquiries into cold derived traits in temperate to polar evolution, as well as inform on the paths of readaptation to non-freezing habitats in various secondarily temperate cryonotothenioids through comparative genomic analyses.

genomics↗

bioRxiv2023

Ongoing introgression of a secondary sexual plumage trait in a stable avian hybrid zone

AO_SCPLOWBSTRACTC_SCPLOWHybrid zones are dynamic systems where natural selection, sexual selection, and other evolutionary forces can act on reshuffled combinations of distinct genomes. The movement of hybrid zones, individual traits, or both are of particular interest for understanding the interplay between selective processes. In a hybrid zone involving two lek-breeding birds, secondary sexual plumage traits of Manacus vitellinus, including bright yellow collar and olive belly color, have introgressed asymmetrically [~]50 km across the genomic center of the zone into populations more genetically similar to Manacus candei. Males with yellow collars are preferred by females and are more aggressive than parental M. candei, suggesting that sexual selection was responsible for the introgression of male traits. We assessed the spatial and temporal dynamics of this hybrid zone using historical (1989 - 1994) and contemporary (2017 - 2020) transect samples to survey both morphological and genetic variation. Genome-wide SNP data and several male phenotypic traits show that the genomic center of the zone has remained spatially stable, whereas the olive belly color of male M. vitellinus has continued to introgress over this time period. Our data suggest that sexual selection can continue to shape phenotypes dynamically, independent of a stable genomic transition between species.

evolutionary biology↗

bioRxiv2022

On the causes, consequences, and avoidance of PCR duplicates: towards a theory of library complexity

AO_SCPLOWBSTRACTC_SCPLOWLibrary preparation protocols for most sequencing technologies involve PCR amplification of the template DNA, which open the possibility that a given template DNA molecule is sequenced multiple times. Reads arising from this phenomenon, known as PCR duplicates, inflate the cost of sequencing and can jeopardize the reliability of affected experiments. Despite the pervasiveness of this artifact, our understanding of its causes and of its impact on downstream statistical analyses remains essentially empirical. Here, we develop a general quantitative model of amplification distortions in sequencing datasets, which we leverage to investigate the factors controlling the occurrence of PCR duplicates. We show that the PCR duplicate rate is determined by the ratio between library complexity and sequencing depth, and that amplification noise (including in its dependence on the number of PCR cycles) only plays a minor role for this artifact. We confirm our predictions using new and published RAD-seq libraries and provide a method to estimate library complexity and amplification noise in any dataset containing PCR duplicates. We discuss how amplification-related artifacts impact downstream analyses, and in particular genotyping accuracy. The proposed framework unites the numerous observations made on PCR duplicates and will be useful to experimenters of all sequencing technologies where DNA availability is a concern.

molecular biology↗

bioRxiv2022

Novel mitochondrial genome rearrangements including duplications and extensive heteroplasmy in Antarctic Notothenioid Fishes

Mitochondrial genomes are known for their compact size and conserved gene order, however, recent studies employing long-read sequencing technologies have revealed the presence of atypical mitogenomes in some species. In this study, we assembled and annotated the mitogenomes of five Antarctic notothenioids, including four icefishes (Champsocephalus gunnari, C. esox, Chaenocephalus aceratus, and Pseudochaenuchthys georgianus) and the cold-specialized Trematomus borchgrevinki. Antarctic notothenioids are known to harbor some rearrangements in their mt genomes, however the extensive duplications in icefishes observed in our study have never been reported before. In the icefishes, we observed duplications of the protein coding gene ND6, two transfer RNAs, and the control region with different copy number variants present within the same individuals and with some ND6 duplications appearing to follow the canonical Duplication-Degeneration-Complementation (DDC) model in C. esox and C. gunnari. In addition, using long-read sequencing and k-mer analysis, we were able to detect extensive heteroplasmy in C. aceratus and C. esox. We also observed a large inversion in the mitogenome of T. borchgrevinki, along with the presence of tandem repeats in its control region. This study is the first in using long-read sequencing to assemble and identify structural variants and heteroplasmy in notothenioid mitogenomes and signifies the importance of long-reads in resolving complex mitochondrial architectures. Identification of such wide-ranging structural variants in the mitogenomes of these fishes could provide insight into the genetic basis of the atypical icefish mitochondrial physiology and more generally may provide insights about their potential role in cold adaptation.

evolutionary biology↗

bioRxiv2022

Genomics of secondarily temperate adaptation in the only non-Antarctic icefish

AO_SCPLOWBSTRACTC_SCPLOWWhite-blooded Antarctic icefishes, a family within the adaptive radiation of Antarctic notothenioid fishes, are an example of extreme biological specialization to both the chronic cold of the Southern Ocean and life without hemoglobin. As a result, icefishes display derived physiology that limits them to the cold and highly oxygenated Antarctic waters. Against these constraints, remarkably one species, the pike icefish Champsocephalus esox, successfully colonized temperate South American waters. To study the genetic mechanisms underlying secondarily temperate adaptation in icefishes, we generated chromosome-level genome assemblies of both C. esox and its Antarctic sister species, Champsocephalus gunnari. The C. esox genome is similar in structure and organization to that of its Antarctic congener; however, we observe evidence of chromosomal rearrangements coinciding with regions of elevated genetic divergence in pike icefish populations. We also find several key biological pathways under selection, including genes related to mitochondria and vision, highlighting candidates behind temperate adaptation in C. esox. Substantial antifreeze glycoprotein (AFGP) pseudogenization has occurred in the pike icefish, likely due to relaxed selection following ancestral escape from Antarctica. The canonical AFGP locus organization is conserved in C. esox and C. gunnari, but both show a translocation of two AFGP copies to a separate locus, previously unobserved in cryonotothenioids. Altogether, the study of this secondarily temperate species provides an insight into the mechanisms underlying adaptation to ecologically disparate environments in this otherwise highly specialized group.

genomics↗

bioRxiv2022

NUMT PARSER: automated identification and removal of nuclear mitochondrial pseudogenes (numts) for accurate mitochondrial genome reconstruction in Panthera

Nuclear mitochondrial pseudogenes (numts) may hinder the reconstruction of mtDNA genomes and affect the reliability of mtDNA datasets for phylogenetic and population genetic comparisons. Here, we present the program NO_SCPLOWUMTC_SCPLOW PO_SCPLOWARSERC_SCPLOW, which allows for the identification of DNA sequences that likely originate from numt pseudogene DNA. Sequencing reads are classified as originating from either numt or true cytoplasmic mitochondrial (cymt) DNA by direct comparison against cymt and numt reference sequences. Classified reads can then be parsed into cymt or numt datasets. We tested this program using whole genome shotgun-sequenced data from two ancient Cape lions (Panthera leo), because mtDNA is often the marker of choice for ancient DNA studies and the genus Panthera is known to have numt pseudogenes. NO_SCPLOWUMTC_SCPLOW PO_SCPLOWARSERC_SCPLOW decreased sequence disagreements that were likely due to numt pseudogene contamination and equalized read coverage across the mitogenome by removing reads that likely originated from numts. We compared the efficacy of NO_SCPLOWUMTC_SCPLOW PO_SCPLOWARSERC_SCPLOW to two other bioinformatic approaches that can be used to account for numt contamination. We found that NO_SCPLOWUMTC_SCPLOW PO_SCPLOWARSERC_SCPLOW outperformed approaches that rely only on read alignment or Basic Local Alignment Search Tool (BLAST) properties, and was effective at identifying sequences that likely originated from numts while having minimal impacts on the recovery of cymt reads. NO_SCPLOWUMTC_SCPLOW PO_SCPLOWARSERC_SCPLOW therefore improves the reconstruction of true mitogenomes, allowing for more accurate and robust biological inferences.

evolutionary biology↗

bioRxiv2022

Evolution of decreased aggression in honey bees targeted brain cell gene regulatory networks

Understanding how genotypic variation results in phenotypic variation, a major challenge in biology, is especially difficult for collective behaviour because collective group phenotypes arise from complex interactions between group members1. Honeybees aggressively defend their colony from attacks with highly integrated collective behaviour in which different groups of bees play specific roles, giving rise to distinct colony-level differences in aggression. A previous genome-wide association study of a population of Africanized honeybees (Apis mellifera scutellata) from Puerto Rico that recently evolved decreased aggression identified hundreds of genes with single nucleotide polymorphisms (SNPs) that associated with colony-level variation in aggression2. Many of these SNPs also showed strong signals of selection for decreased aggression2,3, but their influence on brain function was unknown. Using brain single-cell (sc) transcriptomics and sc gene regulatory network analysis, we show here that variants of these genes give rise to genetic differences in transcription factor-target gene relationships. These differences involved the activity of several TFs, some that have been previously associated with aggression, like single stranded-binding protein c31A, and some that have been associated with tissue morphogenesis but not behaviour, like apontic. The activity of these and other TFs was located in specific brain cell populations related to olfaction and vision, the two sensory modalities that bees use in colony defence. They also implicate metabolism of serotonin, a neurochemical already known to influence honeybee aggression, but not from a genetic perspective. Surprisingly, genetic differences were more pronounced in the brains of forager bees than in similarly aged but more aggressive soldier bees, pointing to an evolutionary change in division of labour for colony defence. Our results demonstrate how group genetics can shape a collective phenotype by modulating individual brain gene regulatory network architecture.

genomics↗

bioRxiv2021

Population genomics analysis with RAD, reprised: STACKS 2

Restriction enzymes have been one of the primary tools in the population genetics toolkit for fifty years, being coupled with each new generation of technology to provide a more detailed view into the genetics of natural populations. Restriction site-Associated DNA protocols, which joined enzymes with short-read sequencing technology have democratized the field of population genomics, providing a means to assay the underlying alleles in scores of populations. More than ten years on, the technique has been widely applied across the tree of life and served as the basis for many different analysis techniques. Here, we provide a detailed protocol to conduct a RAD analysis from experimental design to de novo analysis - including parameter optimization - as well as reference-based analysis, all in SO_SCPLOWTACKSC_SCPLOW version 2, which is designed to work with paired-end reads to assemble RAD loci up to 1000 nucleotides in length. The protocol focuses on major points of friction in the molecular approaches and downstream analysis, with special attention given to validating experimental analyses. Finally, the protocol provides several points of departure for further analysis.

bioinformatics↗

bioRxiv2021

Leafy and Weedy Seadragon Genomes Connect Genic and Repetitive DNA Features to the Extravagant Biology of Syngnathid Fishes

Seadragons are a remarkable lineage of teleost fishes, and they are members of the family Syngnathidae renowned for having evolved male pregnancy. Comprising three known species, seadragons are widely recognized and admired for their fantastical body forms and coloration, and their specific habitat requirements have made them flagship representatives for marine conservation and natural history interests. Until recently, a gap has been the lack of significant genomic resources for seadragons. We have produced gene-annotated, chromosome-scale genome models for the leafy and weedy seadragon to advance investigations into evolutionary innovation and elaboration of morphological traits in seadragons as well as their pipefish and seahorse relatives. We identified several interesting features specific to seadragon genomes, including divergent non-coding regions near a developmental gene important for integumentary outgrowth, a high genome-wide density of repetitive DNA, and recent expansions of transposable elements and a vesicular trafficking gene family. Surprisingly, comparative analyses leveraging the seadragon genomes and additional syngnathid and outgroup genomes revealed striking, syngnathid-specific losses in the family of fibroblast growth factors (FGFs), which likely involve re-organization of highly conserved gene regulatory networks in ways that have not previously been documented in natural populations. The resources presented here serve as important tools for future evolutionary studies of developmental processes in syngnathids and will be a key resource for conservation studies of the extravagant seadragons and their relatives.

genomics↗

bioRxiv2020

The developmental and genetic architecture of the sexually selected male ornament of swordtails

Sexual selection results in sex-specific characters like the conspicuously pigmented extension of the ventral tip of the caudal fin - the "sword" - in males of several species of Xiphophorus fishes. To uncover the genetic architecture underlying sword formation and to identify genes that are associated with its development, we characterized the sword transcriptional profile and combined it with genetic mapping approaches. Results showed that the male ornament of swordtails develops from a sexually non-dimorphic prepattern of transcription factors in the caudal fin. Among genes that constitute the exclusive sword transcriptome only two are located in the genomic region associated with this trait; the chaperone, fkbp9, and the potassium channel, kcnh8 that in addition to its neural function performs a role known to affect fin growth. This indicates that during evolution of swordtails a brain gene has been recruited for an additional function in establishing a male ornament.

evolutionary biology↗