Nature

Patchy Colorings in Cats Could Explain Certain Birth Defects

January 7, 2016 | Joanne Kennell

A black and white cat
Photo credit: Serena/Flickr (CC BY-SA 2.0)

These patterns are often found on cats, horses and mice.

Is one of your family members covered in two-toned fur? If so, there is a good chance this piebald pattern was caused by a single mutated gene, according to recent research.

Scientists knew that these patterns first form in the womb, but now they also know why.  And not only that, the reason could shed light on medical conditions that occur early in the womb such as holes in the heart, a congenital heart defect caused when cells do not move to their proper places as the embryo develops.

The study, conducted by mathematicians and geneticists from the Universities of Bath and Edinburgh, found that the pigment cells responsible for piebald patterns in mice move and multiply randomly during early development.  This contradicts the existing theory, which stated that piebald patterns form on animals’ coats because pigment cells move too slowly to reach all parts of the embryo before it is fully formed.

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According to Dr. Christian Yates, the principal investigator of the study, the results confirmed that piebald patterns are caused by a faulty version of the gene called kit.  However, the gene did not behave as expected.

“Previously it was thought that the defective kit gene slowed cells down but instead we've shown that it actually reduces the rate at which they multiply. There are too few pigment cells to populate the whole of the skin and so the animal gets a white belly,” explained Yates.  “In addition to kit, there are many other genes that can create piebald patterns, the mathematical model can explain piebald patterns regardless of the genes involved.”

The lead author, Dr. Richard Mort of Edinburgh's Medical Research Council Human Genetics Unit said, “We already know cells move through the developing skin to create pigment. We have discovered that they move and multiply at random which is not what was expected. Using a mathematical model we were then able to show that this simple process could explain piebald patterns.”

According to their results, there is no complicated cell-to-cell communication that sends cells in a particular direction.  What is also so amazing about the results is that this same mathematical model used to track piebald patterns can also be used to follow others types of cells during early development — helping to better understand certain conditions.

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