Doberman Albinism Linked to Human Gene Mutation

White Doberman pinschers carry a genetic mutation similar to one that causes albinism in humans, a new study finds.

In the study, researchers at Michigan State University looked at 20 albino Dobermans and 20 standard colored Dobermans. The team wanted to see if the albino dogs had an increased likelihood of developing skin and eye tumors, and also wanted to see if a mutation in any of the genes known to cause a form of albinism in humans was responsible for the condition.

"What we found was a gene mutation that results in a missing protein necessary for cells to be pigmented," MSU doctoral student and co-leader of the study Paige Winkler said in a news release. "Some defects in this same gene cause a condition called oculocutaneous albinism [OCA] in humans."

In both dogs and humans, the mutation causes physical effects, as well as increased sensitivity to sunlight and increased risk of skin tumors.

"With an albino Doberman, you see a white or lighter-colored coat, pink noses and lips, along with pale irises in the eyes," Winkler said. "These traits are very similar to the characteristics humans display with this particular condition causing light-pigmented skin and hair, along with eye discoloration and vision disturbances."

The study found that one of four genes known to cause OCA, SLC45A2, was mutated in the albino dogs. That gene is linked to skin pigmentation is several different species including humans. The mutation results in a missing protein that would normally cause cells to be pigmented, Winkler explained.

In addition, the researchers found that 12 of the 20 albino Dobermans had skin tumors, while only one of the standard colored dogs had similar tumors.


The study, A Partial Gene Deletion of SLC45A2 Causes Oculocutaneous Albinism in Doberman Pinscher Dogs," was published in the journal PLOS One.

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