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Mutation Behind Missing Fingerprints Identified

by Sheela Philomena on Aug 6 2011 12:23 PM

 Mutation Behind Missing Fingerprints Identified
The genetic code behind a rare condition which leaves people without fingerprints has been cracked by Tel Aviv Sourasky Medical Center researchers.
For the study, scientists looked at one Swiss family, many of them had no fingerprints. By analysing their DNA, researchers identified the SMARCAD1 gene.

Researchers said "virtually nothing" was known about how the gene functioned in the skin.

The study looked at the genetic code of 16 members of a family, in which seven had fingerprints and nine were born without it.

They found that a shorter version of the SMARCAD1 gene was expressed in the skin and that patients who did not have fingerprints had mutations in the gene.

"Our findings implicate a skin-specific version of SMARCAD1 in the regulation of fingerprint development," the BBC quoted the lead researcher Professor Eli Sprecher as saying.

"Little is known about the function of full-length SMARCAD1 and virtually nothing regarding the physiological role of the skin-specific version of the gene," added Sprecher.

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Full length SMARCAD1 is thought to control the activity of other genes.

He added: "As abnormal fingerprints are known to sometimes herald severe disorders, our finding may also impact the understanding of additional diseases affecting not only the skin."

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The study has been published in the American Journal of Human Genetics

Source-ANI


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