Gene Mutations In Rock Pigeon Pigmentation Have Implications For Human Medical Research

Posted: February 7, 2014 at 11:53 pm

February 7, 2014

Image Caption: These English trumpeter pigeons -- blue-black on the left and red on the right -- display some of the great diversity of colors among some 350 breeds of rock pigeons. University of Utah biologists discovered three major genes explain color variations in rock pigeons. In the blue-black pigeon, none of the genes have mutations. The red bird is that color because it has a mutant version of a gene named Sox10. The same genes are involved in making some people susceptible to skin cancer and others develop albinism, or a lack of pigment. Credit: Photo courtesy of Sydney Stringham from University of Utah

Brett Smith for redOrbit.com Your Universe Online

A team of American researchers has discovered mutations in three genes that determine feather color in domestic rock pigeons, according to a new study in Current Biology. The same genes direct the pigmentation of human skin meaning the findings may have implications for medical research.

Mutations in these genes can be responsible for skin diseases and conditions such as melanoma and albinism, said study author Michael Shapiro, associate professor of biology at the University of Utah.

In humans, mutations of these genes often are considered bad because they can cause albinism or make cells more susceptible to UV (ultraviolet sunlight) damage and melanoma because the protective pigment is absent or low, said study author Eric Domyan, a biology postdoctoral fellow at the University of Utah. In pigeons, mutations of these same genes cause different feather colors, and to pigeon hobbyists that is a very good thing.

The study team learned that coding and regulatory distinctions in the interactions among the genes Tyrp1, Sox10 and Slc45a2 affect multiple color phenotypes, or appearances, in pigeons. In one instance, scientists learned that a reddish mutation in Tyrp1 arose just once and was spread all through the species by selective mating. Different forms of Tyrp1 make pigeons blue-gray, red or brown.

Variations of Sox10 make pigeons red, regardless of what form Tyrp1 takes, the researchers found. Also, Slc45a2 makes the pigeons colors either very strong or look washed out.

Our work provides new insights about how mutations in these genes affect their functions and how the genes work together, Shapiro said. Many traits in animals, including susceptibility to diseases such as cancer, are controlled by more than one gene. To understand how these genes work together to produce a trait, we often have to move beyond studies of humans. Its difficult to study interactions among the genes in people.

Both Tyrp1 and Sox10 are potential targets for treatment of melanoma, he added. Mutations in Slc45a2 in humans can lead to changes in skin color, including albinism (lack of skin color).

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Gene Mutations In Rock Pigeon Pigmentation Have Implications For Human Medical Research

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