Garcia-Elfring Alan, Roffey Heather L, Abergas Jaren M, Wuyts Jurgen, Hendry Andrew P, Tzika Athanasia C, Barrett Rowan D H
Department of Biology, McGill University, Montreal, Quebec, Canada.
Biology Department, Vanier College, Montreal, Quebec, Canada.
Pigment Cell Melanoma Res. 2025 Jan;38(1):e13215. doi: 10.1111/pcmr.13215. Epub 2024 Nov 28.
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.
爬行动物展现出各种各样的皮肤颜色和图案，但对于爬行动物颜色形成的遗传学却知之甚少。在此，我们研究人工饲养的球蟒（Python regius）中发现的小丑色型的遗传基础，以研究蛇类的皮肤色素沉着和图案形成。我们通过众包从商业养殖者和爱好者处收集蜕下的皮肤样本。我们采用了病例对照设计、全基因组池测序、变异注释、组织学分析和电子显微镜成像。我们在促黑素细胞激素-1受体（MC1R）的跨膜区域鉴定出一个错义突变，该突变与小丑表型相关。在经典的鸟类和哺乳动物模型物种中，MC1R以控制产生的黑色素的类型和数量而闻名。相比之下，我们的结果表明，MC1R信号传导可能在球蟒的图案形成中起关键作用，影响黄色素细胞-黑色素细胞的分布。这项工作突出了MC1R在不同脊椎动物谱系中的多种功能，并推动了一个研究爬行动物颜色形成的新型模型系统的发展。
