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Dec 1, 2022

Scientists link rare genetic phenomenon to neuron function, schizophrenia

Posted by in categories: biotech/medical, chemistry, genetics, robotics/AI

In our cells, the language of DNA is written, making each of us unique. A tandem repeat occurs in DNA when a pattern of one or more nucleotides—the basic structural unit of DNA coded in the base of chemicals cytosine ©, adenine (A), guanine (G) and thymine (T)—is repeated multiple times in tandem. An example might be: CAG CAG CAG, in which the pattern CAG is repeated three times.

Now, using state-of-the-art whole-genome sequencing and machine learning techniques, the UNC School of Medicine lab of Jin Szatkiewicz, Ph.D., associate professor of genetics, and colleagues conducted one of the first and the largest investigations of repeats in , elucidating their contribution to the development of this devastating disease.

Published in the journal Molecular Psychiatry, the research shows that individuals with schizophrenia had a significantly higher rate of rare tandem repeats in their genomes—7% more than individuals without schizophrenia. And they observed that the tandem repeats were not randomly located throughout the genome; they were primarily found in genes crucial to brain function and known to be important in schizophrenia, according to previous studies.

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