By Deirdre Tynan • 20 August 2021 • 14:51
Scientists have unravelled the enigma of inheritance of coat colour patterns in dogs. The researchers discovered that a genetic variant responsible for a very light coat in dogs and wolves originated more than two million years ago in a now extinct relative of the modern wolf.
The inheritance of several coat colour patterns in dogs has been controversially debated for decades. Researchers including Tosso Leeb from the Institute of Genetics of the University of Bern have now finally been able to solve the puzzle. Not only did they clarify how the coat colour patterns are genetically controlled, but the researchers also discovered that the light coat colour in white arctic wolves and many modern dogs is due to a genetic variant originating in a species that went extinct a long time ago.
Two pigments and a “switch” for all coat colours
Wolves and dogs can make two different types of pigment, the black one, called eumelanin and the yellow, pheomelanin. A precisely regulated production of these two pigments at the right time and at the right place on the body gives rise to very different coat colour patterns. Prior to the study, four different patterns had been recognized in dogs and several genetic variants had been theorized which cause these patterns. However, commercial genetic testing of these variants in many thousands of dogs yielded conflicting results, indicating that the existing knowledge on the inheritance of coat colour patterns was incomplete and not entirely correct.
During the formation of coat colour, the so-called agouti signalling protein represents the body’s main switch for the production of yellow pheomelanin. If the agouti signalling protein is present, the pigment producing cells will synthesize yellow pheomelanin. If no agouti signalling protein is present, black eumelanin will be formed. “We realized early on that the causative genetic variants have to be regulatory variants which modulate the rate of protein production and lead to higher or lower amounts of agouti signal protein,” Tosso Leeb said.
Five instead of four distinct coat colour patterns
The gene for agouti signalling protein has several initiation sites for reading the genetic information, which are called promoters. Dogs, on the one hand, have a ventral promoter, which is responsible for the production of agouti signalling protein at the belly. On the other hand, dogs have an additional hair cycle-specific promoter that mediates the production of agouti signalling protein during specific stages of hair growth and enables the formation of banded hair.
For the first time, the researchers characterized these two promoters in detail, in hundreds of dogs. They discovered two variants of the ventral promoter. One of the variants conveys the production of normal amounts of agouti signalling protein. The other variant has higher activity and causes the production of an increased amount of agouti signalling protein. The researchers even identified three different variants of the hair cycle-specific promoter. Starting with these variants at the individual promoters, the researchers identified a total of five different combinations, which cause different coat colour patterns in dogs. “The textbooks have to be rewritten as there are five instead of the previously accepted four different patterns in dogs,” Leeb said.
Unexpected insights on the evolution of wolves
As many genomes from wolves of different regions on earth have become publicly available, the researchers further investigated whether the identified genetic variants also exist in wolves. These analyses demonstrated that the variants for overactive ventral and hair cycle-specific promoters were already present in wolves prior to the domestication of modern dogs, which started approximately 40,000 years ago. Most likely, these genetic variants facilitated adaptation of wolves with a lighter coat colour to snow-rich environments during past ice ages. Today, the completely white arctic wolves and the light-coloured wolves in the Himalaya still carry these genetic variants.
Further comparisons of the gene sequences with other species of the canidae family yielded very surprising results. The researchers were able to show that the overactive variant of the hair cycle-specific promoter in light-coloured dogs and wolves shared more similarities with very distantly related species such as the golden jackal or the coyote than with the European grey wolf.
“The only plausible explanation for this unexpected finding is an ancient origin of this variant, more than two million years ago, in a now extinct relative of wolves,” Leeb said. The gene segment must have been introgressed more than two million years ago into wolves by hybridization events with this now extinct relative of wolves. Thus, a small piece of DNA from this extinct species is still found today in yellow dogs and white arctic wolves. “This is reminiscent of the spectacular finding that modern humans carry a small proportion of DNA in their genomes from the now extinct Neandertals,” Leeb added.
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Deirdre Tynan is an award-winning journalist who enjoys bringing the best in news reporting to Spain’s largest English-language newspaper, Euro Weekly News. She has previously worked at The Mirror, Ireland on Sunday and for news agencies, media outlets and international organisations in America, Europe and Asia. A huge fan of British politics and newspapers, Deirdre is equally fascinated by the political scene in Madrid and Sevilla. She moved to Spain in 2018 and is based in Jaen.
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