Tiny Variation in One Gene…

May Have Led to Crucial Changes in Human Brain

The human brain has yet to explain the origin of one its defining features — the deep fissures and convolutions that increase its surface area and allow for rational and abstract thoughts.

An international collaboration of scientists from the Yale School of Medicine and Turkey may have discovered humanity’s beneficiary — a tiny variation within a single gene that determines the formation of brain convolutions — they report online May 15 in the journal Nature Genetics.

A genetic analysis of a Turkish patient whose brain lacks the characteristic convolutions in part of his cerebral cortex revealed that the deformity was caused by the deletion of two genetic letters from 3 billion in the human genetic alphabet. Similar variations of the same gene, called laminin gamma3 (LAMC3), were discovered in two other patients with similar abnormalities.

On the left, the occipital region of a normal human brain is circled. On the right, the same area of the brain of a subject with mutation of LAMC3 gene is smooth, and lacks normal folds and convolutions. (Credit: courtesy of Yale University)

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