Loss-of-function mutations in ASIP and MC1R are associated with coat colour variation in marsupials
Year: 2025
Type: article
Abstract: Pigment production in mammalian hair follicles is governed in part by interactions between Agouti Signalling Protein (ASIP) and the Melanocortin 1 Receptor (MC1R). The most common coat colours in mammals result from alternating bands of dark eumelanin and light pheomelanin within individual hairs. However, coats dominated by a single type of melanin have arisen several times. Here, we examine the genetic basis of two instances among the marsupials: a melanistic morph of the eastern quoll ( Dasyurus viverrinus ) found at high frequency in the wild, and a rare case of fixed xanthism in the marsupial moles. In the eastern quoll, we show that a deletion encompassing part of the ASIP coding sequence likely explains melanism in this species. Notably, this mutation is convergent with that recently discovered in its dark-coated relative, the Tasmanian devil ( Sarcophilus harrisii ). Conversely, we show that a nonsense mutation which severely truncates MC1R in the southern marsupial mole ( Notoryctes typhlops ) is a strong candidate driver of its pheomelanin-predominant coat. Together with other recent findings, our results suggest that loss-of-function mutations have occurred repeatedly within the marsupials, representing an important mechanism underpinning coat colour variation.
Source: Biology Letters
Authors: Ryan Sauermann, Bronwyn Fancourt, Tim Faulkner, Hayley Shute, Dean Reid, Andrew J. Pask, Charles Yakov Feigin
Language: English
Subfield: Cell Biology
Domain: Life Sciences
Open Access status: hybrid
Funder: University of Tasmania
OpenAlex ID: W4415379650