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Single Jaw Gene Unlocks Path To Humanity
By rickyjames, Section News
Posted on Wed Mar 24, 2004 at 02:58:31 AM PST

Anthropology

Now we know just what that mysterious monolith in 2001 was REALLY doing.

From The Australian: A SINGLE mutation in one jaw muscle gene is the first key genetic difference to be found between between humans and apes. What's more, the mutation - estimated to have occurred 2.4 million years ago - may have been the critical change that sent ancestral humans down a different evolutionary path than their primitive primate cousins, claim researchers at the University of Pennsylvania in Philadelphia.

"This is the first genetic distinction between humans and chimpanzees that can be linked to the fossil record," the team's leader, Hansell Stedman, said yesterday.

Details on the story continue from the Sydney Herald: The US team had initially been on a medical rather than evolutionary quest, looking for human genes linked to a family of proteins called myosins that make muscles contract. They discovered a new myosin gene, called MYH16, that had one small mutation which made it inactive. This mutation turned out to be present in all the people they tested from Africa, South America, western Europe, Iceland, Japan and Russia, which made the researchers wonder why it was so common.

They then analysed the DNA of seven species of apes, including our closest relatives, the chimpanzees, and found they all had the active, rather than the mutated, version of the gene. By studying a wide range of muscle types, they discovered the gene was only switched on in monkeys in facial muscles that control chewing and biting. These muscles are much larger and more powerful in apes and monkeys than in humans, and put a lot of stress on the top of the skull.

The final step in the team's sleuthing was to compare the sequence of "letters" of DNA in the MYH16 gene from humans with those from five other animals, including dogs. This allowed them to estimate that the mutation arose by chance about 2.4 million years ago, after humans and chimpanzees had diverged. This fitted well with the fossil evidence that early humans with large, round skulls and small jaws began to appear about 2 million years ago. The findings are reported today in the journal Nature.

In Sydney, geneticist and developmental biologist Pete Currie agreed that the nature and timing of the mutation "linked exquisitely" with the timing of evolutionary changes identified by paleontologists.

"This is the first window for looking into and seeing what it is about our genes that makes us human," said Professor Currie, of The Victor Chang Cardiac Research Institute and University of NSW.

Generally, fossil experts conclude that hominids and chimps diverged about 2.4 million years ago. Hominids like Australopithecus afarensis and, later, Homo erectus appeared, leading to modern humans.

Writing today in the journal Nature, Professor Stedman and his colleagues claim that a tiny change to the so-called myosin heavy chain (MYH16) gene was enough to weaken our ancestral jaw muscles.

As a consequence, the hominid skull had room to shift shape, enabling it to accommodate an ever-enlarging brain. In contrast, chimpanzees were stuck with big, powerful jaws and, by necessity, much smaller brains.

According to Professor Currie, a "simple change" to muscle anatomy could indeed affect the skull.

"Altering the size of different muscles can produce dramatic alterations in the bones to which they attach," he said.

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Related Science Links
· The Australian
· Hansell Stedman
· from the Sydney Herald
· MYH16
· More on Anthropology
· Also by rickyjames

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