A joint study by the Tel Aviv Medical Center and the University of Basel in Switzerland discovered the genetic basis of a rare syndrome in which people are born without fingerprints
A group of researchers led by Prof. Eli Shpercher, director of the dermatology department at the Tel Aviv Medical Center, in collaboration with the University of Basel in Switzerland, has led to a breakthrough in understanding the genetic basis of those suffering from "transboundary delay disease". This disease manifests itself in the congenital absence of fingerprints and is called by this somewhat unusual name, since those with it often encounter difficulties at border crossings in countries that require fingerprints to be checked.
Fingerprints are a unique characteristic of human skin and are widely used in the modern era as an identification tool. But it is clear that fingerprints did not develop in humans to make the work of police investigators and detective writers easier. So what are our fingerprints really used for? In the past, it was thought that the role of fingerprints was to facilitate the act of perception. But recently, this theory has been abandoned and in its place another opinion prevails according to which the delicate folds of skin at the tips of our fingers are mainly used to increase the sensation of gentle touch and vibration.
Recently, a multi-year study was completed, at the end of which the defective gene causing "border crossing delay disease" was discovered in a large Swiss family. Using sophisticated genetic tests, the researchers identified the gene, called SMARCAD1.
SMARCAD1 has two forms, one found in most body organs and the other expressed only in the skin. The genetic defect that causes the disease results in the selective disappearance of the cutaneous form of SMARCAD1. Dr. Zana Nusbeck, from the Dermatology Department at the Tel Aviv Medical Center, explains, "In the first step, we identified the defective gene in members of a large family who are born with missing fingerprints. Normally, one gene contains the necessary information to create one protein, but in the case of the gene associated with congenital fingerprint deficiency, we discovered that it codes for two different proteins, one of which is found only in the skin and not in any other tissue. It turned out that the genetic defect that causes a congenital lack of fingerprints affects the gene product that is expressed in the skin only, which explains the limited expression of that genetic defect in the skin."
According to Prof. Spracher, "Hereditary diseases resulting from a single genetic defect are a unique source of information to understand complex biological phenomena. Through the study of a rare hereditary disease, a unique mechanism that controls the formation of fingerprints in humans has been revealed, a phenomenon whose molecular basis was not known until now. With the identification of SMARCAD1, a better understanding of the way this molecule shapes the three-dimensional structure of our skin will be needed. Since abnormal fingerprints have a known connection with other diseases, some of them serious, the new findings may have possible implications for understanding the biological basis of more common diseases in and outside the skin."
The group's discovery will be published in the prestigious American Journal of Human Genetics. In addition to Dr. Nusbeck and Prof. Spracher, Dana Fox Telam, Dr. Mor Pavlosky, Dr. Shlomit Fenig and Dr. Ofer Sharig from the Dermatology Department of the Tel Aviv Medical Center, and Dr. Bettina Burger and Prof. Peter Itin from the Dermatology Department, participated in the study. University Hospital of Basel, Switzerland.