Stripes and loss of color in ball pythons (<i>Python regius</i>) are associated with variants affecting endothelin signaling

Dao, Uyen M; Lederer, Izabella; Tabor, Ray L; Shahid, Basmah; Graves, Chiron W.; Seidel, Hannah S.

doi:10.1093/g3journal/jkad063

Cited by 4 publications

(1 citation statement)

References 82 publications

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“…Recurrent mutations in the endothelin signaling pathway associated with pigmentation changes are not limited to birds. For example, a recent study identified an allelic series at the EDNRB2 locus associated with distinct color morphs in ball pythons [45,46]. Zebrafish do not have a syntenic EDNRB2 ortholog, but EDNRBA is critical for pigment cell migration and maturation [47]: an allelic series at the "rose" locus (EDNRBA) produces a range of pigmentation phenotypes, and includes missense, nonsense, and uncharacterized mutations [48].…”

Section: Endothelin B Signaling Mutations Are Associated With Depigme...mentioning

confidence: 99%

An allelic series at the EDNRB2 locus controls diverse piebalding patterns in the domestic pigeon

Maclary,

Wauer,

Phillips

et al. 2023

PLoS Genet

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Variation in pigment patterns within and among vertebrate species reflects underlying changes in cell migration and function that can impact health, reproductive success, and survival. The domestic pigeon (Columba livia) is an exceptional model for understanding the genetic changes that give rise to diverse pigment patterns, as selective breeding has given rise to hundreds of breeds with extensive variation in plumage color and pattern. Here, we map the genetic architecture of a suite of pigmentation phenotypes known as piebalding. Piebalding is characterized by patches of pigmented and non-pigmented feathers, and these plumage patterns are often breed-specific and stable across generations. Using a combination of quantitative trait locus mapping in F2 laboratory crosses and genome-wide association analysis, we identify a locus associated with piebalding across many pigeon breeds. This shared locus harbors a candidate gene, EDNRB2, that is a known regulator of pigment cell migration, proliferation, and survival. We discover multiple distinct haplotypes at the EDNRB2 locus in piebald pigeons, which include a mix of protein-coding, noncoding, and structural variants that are associated with depigmentation in specific plumage regions. These results identify a role for EDNRB2 in pigment patterning in the domestic pigeon, and highlight how repeated selection at a single locus can generate a diverse array of stable and heritable pigment patterns.

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Section: Endothelin B Signaling Mutations Are Associated With Depigme...mentioning

confidence: 99%

An allelic series at the EDNRB2 locus controls diverse piebalding patterns in the domestic pigeon

Maclary,

Wauer,

Phillips

et al. 2023

PLoS Genet

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

Garcia‐Elfring,

Roffey,

Abergas

et al. 2024

Pigment Cell Melanoma Res

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

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Modulating vertebrate physiology by genomic fine-tuning of GPCR functions

Schöneberg

2025

Physiological Reviews

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G protein-coupled receptors (GPCRs) play a crucial role as membrane receptors, facilitating the communication of eukaryotic species with their environment and regulating cellular and organ interactions. Consequently, GPCRs hold immense potential in contributing to adaptation to ecological niches and responding to environmental shifts. Comparative analyses of vertebrate genomes reveal patterns of GPCR gene loss, expansion, and signatures of selection. Integrating this genomic data with insights from functional analyses of gene variants enables the interpretation of genotype-phenotype correlations. This review underscores the involvement of GPCRs in adaptive processes, presenting numerous examples of how alterations in GPCR functionality influence vertebrate physiology, or conversely, how environmental changes impact GPCR functions. The findings demonstrate that modifications in GPCR function contribute to adapting to aquatic, arid, and nocturnal habitats, influencing camouflage strategies, and specializing in particular dietary preferences. Furthermore, the adaptability of GPCR functions provides an effective mechanism in facilitating past, recent, or ongoing adaptations in animal domestication and human evolution and should be considered in therapeutic strategies and drug development.

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Stripes and loss of color in ball pythons (Python regius) are associated with variants affecting endothelin signaling

Cited by 4 publications

References 82 publications

An allelic series at the EDNRB2 locus controls diverse piebalding patterns in the domestic pigeon

An allelic series at the EDNRB2 locus controls diverse piebalding patterns in the domestic pigeon

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

Modulating vertebrate physiology by genomic fine-tuning of GPCR functions

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