Tiny variation in 1 gene may have led to crucial changes in human brain

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.

An analysis of the gene shows that it is expressed during the embryonic period that is vital to the formation of dendrites, which form synapses or connections between brain cells. "Although the same gene is present in lower organisms with smooth brains such as mice, somehow over time, it has evolved to gain novel functions that are fundamental for human occipital cortex formation and its mutation leads to the loss of surface convolutions, a hallmark of the human brain," Gunel said.

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I found this to be a very intresting read. I'm curious as to what other information they have on this. This makes me wonder how many people out there lack a genetic letter or 2. Keep in mind that they say "may have found" So it sounds to me it is still a theory. They would need to find more people with this anomaly and do more tests before they could say more than that. Still intresting none the less. I will be looking forward to any updates.