Regulatory and disruptive variants in the CLCN2 gene are associated with modified skin color pattern phenotypes in the corn snake

Genome biology, Journal Year: 2025, Volume and Issue: 26(1)

Published: March 26, 2025

Abstract Background Snakes exhibit a broad variety of adaptive colors and color patterns, generated by the spatial arrangement chromatophores, but little is known mechanisms responsible for these spectacular traits. Here, we investigate mono-locus trait with two recessive alleles, motley stripe , that both cause pattern aberrations in corn snake. Results We use mapping-by-sequencing to identify genomic interval where causal mutations reside. With our differential gene expression analyses, find CLCN2 (Chloride Voltage-Gated Channel 2), within interval, significantly downregulated Motley embryonic skin. Furthermore, allele as insertion an LTR-retrotransposon resulting disruptive mutation protein. confirm involvement formation producing knock-out snakes present phenotype similar Stripe. In humans mice, disruption results leukoencephalopathy, well retinal testes degeneration. Our single-cell transcriptomic analyses reveal indeed expressed chromatophores during embryogenesis adult brain, behavior fertility Stripe are not impacted. Conclusions genomic, transcriptomic, functional plasma membrane anion channel be involved development show active might key driver diversification snakes.

Language: Английский

Cell-biology effective interpretation of the Ising model describing skin color patterning

Physical Review Research, Journal Year: 2025, Volume and Issue: 7(2)

Published: April 28, 2025

The skin color patterning of lizards with monochromatic scales can be modeled computationally at least two different mathematical frameworks: Turing's reaction-diffusion model (relying on interaction data among colored cells), and the Lenz-Ising (based effective mesoscopic interactions individual scales). However, a mechanistic connection between these very descriptions remains elusive. Capitalizing both biological interpretability geometric model, we develop computational approach to bridge this gap in series evolutionary divergent lizards. First, by combining methods perform mapping models, show that four-parameter extension classic efficiently captures statistical aspects all species. Second, parameters acquire an interpretation, terms cell interactions, observing how change when tuning optimized for each species studied here. Taken together, our findings establish quantitative links strength length microscopic cells, scale-by-scale lizard patterns visible naked eye. Published American Physical Society 2025

Language: Английский

A Ball Python Colour Morph Implicates MC1R in Melanophore–Xanthophore Distribution and Pattern Formation

Pigment Cell & Melanoma Research, Journal Year: 2024, Volume and Issue: unknown

Published: Nov. 28, 2024

ABSTRACT Reptiles showcase an extensive array of skin colours and patterns, yet little is known about the genetics reptile colouration. Here, we investigate genetic basis Clown colour morph found in captive‐bred ball pythons ( Python regius ) to study pigmentation patterning snakes. We obtained samples by crowdsourcing shed from commercial breeders hobbyists. applied a case–control design, whole‐genome pool sequencing, variant annotation, histological analyses, electron microscopy imaging. identified missense mutation transmembrane region melanocortin‐1 receptor MC1R associated with phenotype. In classic avian mammalian model species, for controlling type amount melanin produced. contrast, our results suggest that signalling might play key role pattern formation pythons, affecting xanthophore–melanophore distribution. This work highlights varied functions across different vertebrate lineages promotes novel system

Language: Английский