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Clemson research finds chickens offer clues to human birth defects
Date:11/25/2013

CLEMSON, S.C. Clemson University researchers found that chicken eggs can provide a better understanding of human birth defects.

Susan Chapman, associate professor in Clemson's College of Agriculture, Forestry and Life Sciences, received a South Carolina IDeA Networks of Biomedical Research Excellence award that allowed researchers to identify two regions in the chicken genome that are associated with congenital deafness and spine deformities in humans.

Chapman examines the eggs from the Araucana breed of chicken, known as a popular show bird because for its ear tufts, rounded rump and blue eggs, each a result of a change, or mutation, in the DNA.

"Using eggs from these birds, we can learn which mutations influence normal development and then apply that knowledge to human health issues," said Chapman.

One mutation in the Araucana that the researchers identified causes failure of the final few vertebrae of the spine to form, which leads to the unusual "rumpless" bird that is a perennial favorite among show breeders. In humans, this results in a fairly severe defect, including lower-leg paralysis and urinary and bowel incontinence. However, the chicken mutation is not as severe and the birds live a normal, albeit tailless, life.

The researchers identified a region of mutations in the Araucana that lead to its rumplessness contain a family of genes that are important in making cells in the nervous system. These genes do not normally function in the region that gives rise to the tail, but in Araucana they are active, which changes the fate of the cells in the region. Because the cells in the mutant now become neurons rather than vertebral cells, the final vertebrae of the spine fail to form.

"This is important as it helps us understand how the spine normally forms and to identify a genetic cause when things go wrong, which in future could be tested for in people before they have children," Chapman said.

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Contact: Susan Chapman
schapm2@clemson.edu
864-656-5432
Clemson University
Source:Eurekalert  

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