Biology subjects

Garcia-Elfring, A.

Publications and source records attributed to Garcia-Elfring, A..

4 recordsLinked to original sources

bioRxiv2025

Genomics of freshwater adaptation in three-spine stickleback from eastern Canada

The threespine stickleback (Gasterosteus aculeatus) is a key model in evolutionary genetics, particularly for studies of parallel evolution, yet most genomic insights derive from populations on the west coast of North America and in Europe. Here, we use restriction site-associated DNA sequencing (RAD-seq) of pooled samples to examine genomic differentiation between marine and freshwater stickleback populations from Atlantic Canada. Our analyses reveal substantial heterogeneity in the extent and genomic distribution of marine-freshwater differentiation, with some freshwater populations showing strong divergence consistent with long-term isolation and drift, and others exhibiting patterns consistent with ongoing gene flow and admixture. Despite this demographic variation, we identify genomic regions that are repeatedly differentiated between marine and freshwater habitats, including loci near dopamine receptor genes (Drd4a and Drd2l). Gene ontology analyses of candidate regions show enrichment for functions related to nervous system development and dopamine receptor activity. Together, these results indicate that freshwater-associated genomic differentiation in Atlantic Canadian stickleback occurs across contrasting demographic contexts and suggest a potential role for neurological and behavioural pathways in adaptation to freshwater environments. Significance statementThreespine stickleback are a model system for studying parallel evolution, yet most genomic research has focused on Pacific and European populations. By examining previously understudied Atlantic Canadian populations, we identify genomic patterns consistent with parallel divergence across markedly heterogeneous demographic contexts, including populations shaped by strong drift as well as gene flow. We detect differentiation near dopamine receptor genes, pointing to a potential role for behavioural and hormonal pathways. Together, these results highlight the role of demographic context in shaping patterns of genomic differentiation associated with freshwater colonization.

genomics↗

bioRxiv2024

GTP cyclohydrolase 1 and axanthism in ball pythons: a new vertebrate model for pterin-based pigmention

Pterin pigments are responsible for many of the bright colours observed across the animal kingdom. However, unlike melanin, the genetics of pterin-based pigmentation has received relatively little attention in animal colouration studies. Here, we investigate a lineage of axanthic ball pythons (Python regius) found in captivity as a model system to study pterin pigmentation in vertebrates. By crowdsourcing shed skin samples from commercial breeders and applying a case-control study design, we utilized whole-genome pool sequencing (pool-seq) and variant annotation. We identified a premature stop codon in the gene GTP cyclohydrolase II (gch2), which is associated with the axanthic phenotype. GCH2 catalyzes the first rate-limiting step in riboflavin biosynthesis. This study provides the first identification of an axanthism-associated gene in vertebrates and highlights the utility of ball pythons as a model to study pterin-based pigmentation.

genetics↗

bioRxiv2020

Using seasonal genomic changes to understand historical adaptation: parallel selection on stickleback in highly-variable estuaries

Parallel evolution is considered strong evidence for natural selection. However, few studies have investigated the process of parallel selection as it plays out in real time. The common approach is to study historical signatures of selection in populations already well adapted to different environments. Here, to document selection in action under natural conditions, we study six populations of threespine stickleback (Gasterosteus aculeatus) inhabiting bar-built estuaries that undergo seasonal cycles of environmental changes. Estuaries are periodically isolated from the ocean due to sandbar formation during dry summer months, with concurrent environmental shifts that resemble the long-term changes associated with postglacial colonization of freshwater habitats by marine populations. We used pooled whole-genome sequencing (Pool-WGS) to track seasonal allele frequency changes in these populations and search for signatures of natural selection. We found consistent changes in allele frequency across estuaries, suggesting a potential role for parallel selection. Functional enrichment among candidate genes included transmembrane ion transport and calcium binding, which are important for osmoregulation and ion balance. The genomic changes that occur in threespine stickleback from bar-built estuaries could provide a glimpse into the early stages of adaptation that have occurred in many historical marine to freshwater transitions.

genomics↗

bioRxiv2020

A nonsense mutation in TFEC is the likely cause of the recessive piebald phenotype in ball pythons ( Python regius)

Captive-bred ball pythons (Python regius) represent a powerful model system for studying the genetic basis of colour variation and Mendelian phenotypes in vertebrates. Although hundreds of Mendelian phenotypes (colour morphs) affecting colouration and patterning have been described for ball pythons, the genes causing these colour morphs remain unknown. Here, we used crowdsourcing of samples from commercial ball python breeders to investigate the genetic basis of a classic phenotype found in the pet trade, the piebald [characterized by dorsolateral patches of unpigmented (white) skin]. We used whole-genome sequencing of pooled samples followed by population genetic methods to delineate the genomic region containing the causal gene. We identified TFEC of the MIT-family of transcription factors as a candidate gene. Functional annotation of SNPs identified a nonsense mutation in TFEC, which we conclude is the likely causal variant for the piebald phenotype. Our work shows that ball python colour morphs have the potential to be an excellent model system for studying the genetic basis of pigment variation in vertebrates, and highlights how collaborations with commercial breeders can accelerate discoveries.

genomics↗