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Gene Mutation Said Linked to Evolution
Science - AP ^ | 2004-03-24 | JOSEPH B. VERRENGIA

Posted on 03/24/2004 11:53:42 AM PST by Junior

Igniting a scientific furor, scientists say they may have found the genetic mutation that first separated the earliest humans from their apelike ancestors.

The provocative discovery suggests that this genetic twist — toward smaller, weaker jaws — unleashed a cascade of profound biological changes. The smaller jaws would allow for dramatic brain growth necessary for tool-making, language and other hallmarks of human evolution on the plains of East Africa.

The mutation is reported in the latest issue of the journal Nature, not by anthropologists, but by a team of biologists and plastic surgeons at the University of Pennsylvania and the Children's Hospital of Philadelphia.

The report provoked strong reactions throughout the hotly contested field of human origins with one scientist declaring it "counter to the fundamentals of evolution" and another pronouncing it "super."

The Pennsylvania researchers said their estimate of when this mutation first occurred — about 2.4 million years ago — generally overlaps with the first fossils of prehistoric humans featuring rounder skulls, flatter faces, smaller teeth and weaker jaws.

And, the remarkable genetic divergence persists to this day in every person, they said.

But nonhuman primates — including our closest animal relative, the chimpanzee — still carry the original big-jaw gene and thanks to stout muscles attached to the tops of their heads, they can bite and grind the toughest foods.

"We're not suggesting this mutation alone defines us as Homo sapiens," said Hansell Stedman of the University of Pennsylvania School of Medicine. "But evolutionary events are extraordinarily rare. Over 2 million years since the mutation, the brain has nearly tripled in size. It's a very intriguing possibility."

University of Michigan biological anthropologist Milford Wolpoff called the research "just super."

"The other thing that was happening 2 1/2 million years ago is that people were beginning to make tools, which enabled them to prepare food outside their mouths," he said. "This is a confluence of genetic and fossil evidence."

Other researchers strenuously disagreed that human evolution could literally hinge on a single mutation affecting jaw muscles, and that once those muscles around the skull were unhooked like bungee cords, the brain suddenly could grow unfettered.

"Such a claim is counter to the fundamentals of evolution," said C. Owen Lovejoy of Kent State University. "These kinds of mutations probably are of little consequence."

Others sought to find some middle ground in the debate.

University and commercial laboratories rapidly are comparing the human genome with that of chimpanzees to determine what makes people human, and how hominids split from Old World apes and monkeys some 6 million years ago.

So far, perhaps 250 genetic differences have been flagged for further study.

Jaws have been a focus of evolutionary research since Darwin, and the mutation offers a tantalizing theory. But it is unlikely that one mutation — even at a crucial evolutionary juncture — would make a person, they said.

"They have successfully nailed a genetic mutation that works to deactivate these jaw muscles," said Richard Potts, director of the Human Origins Program at the Smithsonian Institution (news - web sites). "But their suggestion connecting it to the brain is way too speculative."

In their experiment, the Penn team isolated a new gene in an overlooked junk DNA sequence on chromosome 7. It belongs to a class of genes that express production of the protein myosin, which enables skeletal muscles to contract.

Originally the scientists were concentrating on determining the biological underpinnings of Duchenne muscular dystrophy, a muscle-wasting disease. But once they isolated the mutation, they spent the next eight months deciphering its evolutionary implications.

Different types of myosin are produced in different muscles; in the chewing and biting muscles of the jaws, the gene MYH16 is expressed. But the Penn researchers discovered humans have a mutation in the gene that prevents the MYH16 protein from accumulating. That limits the size and power of the muscle.

In primates like the macaque, the jaw muscles were 10 times more powerful than in humans. They contained high levels of the protein, and the thick muscles were attached to bony ridges of the skull.

When did this genetic split occur? Scientists assume that the rate of genetic change a species undergoes is relatively constant over time. So the Penn group looked deep into the fossil record to determine when the jaws of human ancestors started looking smaller and more streamlined as compared to more apelike creatures.

Homo habilis was the earliest known species to begin showing skull and jaw differences from its more apelike cousins more than 2 million years ago.

The Homo line flourished, with the finer-boned Homo rudolfensis, ergaster and erectus lines soon emerging.

Meanwhile, the heavier-browed, long-jawed Australopithecus afaransis and Paranthropus robustus eventually disappeared.

Without the strong bands of muscle constraining the skull, the Penn researchers said the Homo skull changed shape and grew to accommodate a much larger brain, while the Australopithicine skulls did not.

The Penn researchers said mutation opened an evolutionary struggle in which brain conquered brawn, although it probably took another million years to complete.

The mutation also offers a glimpse of behavioral changes, the Penn researchers said. Apes use their powerful bites to maintain social control, while early humans may have had to rely more on cooperation.

Critics said the study wrongly assumes that evolution works so neatly.

The first early humans with the mutation probably would have had weaker mouths, but still had large teeth and jaws. Many additional mutations would have been needed.

"The mutation would have reduced the Darwinian fitness of those individuals," said anthropologist Bernard Wood of George Washington University. "It only would've become fixed if it coincided with mutations that reduced tooth size, jaw size and increased brain size. What are the chances of that?"


TOPICS: Miscellaneous
KEYWORDS: crevolist; evolution; genetics; milfordwolpoff
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To: Junior
Why would this have to be caused by a mutation? There was probably enough diversity in jaw sizes to accommodate a shift without any major genetic changes, just as there is in the present human population. Just look at how many different varieties of canis familiaris there are ... all arising from the same set of genes.
41 posted on 03/24/2004 12:57:55 PM PST by Agnes Heep (Solus cum sola non cogitabuntur orare pater noster)
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To: AntiGuv
To go from one species to another requires a radical change in information. Since there can not be "self-generated" information in the DNA, the information that makes Homo Sapiens what they are had to have been in the DNA before the "split." If it was there before the "split" why don't the chimps have the exact same body as we have?
42 posted on 03/24/2004 12:59:41 PM PST by LiteKeeper
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To: Junior
Without the strong bands of muscle constraining the skull, the Penn researchers said the Homo skull changed shape and grew to accommodate a much larger brain, while the Australopithicine skulls did not.

This makes a bit of sense. Observe this chimp skull:

Without the need for all that extra materal up there to hold the massive jaw muscles, a different -- and separate -- mutation for a larger brain case would then be able to survive. It could pass through the birth canal without killing the baby. One mutation, the relatively trivial one for a smaller jaw, makes the other mutation able to survive.

43 posted on 03/24/2004 1:00:45 PM PST by PatrickHenry (Everything good that I have done, I have done at the command of my voices.)
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To: AntiGuv
In the first place there is no proof this is actually a mutation. We have a gene that is similar to that of an animal. But there is a difference. So the difference is chalked up as a mutation??? What kind of thinking is that? Not logical thinking but ideological with the built in assumption that a similar gene must have resulted from a mutation. No actual observation of this happening but because evolution MUST have happened then that's the onlyh explanation there can be for a similar gene existing in one kind of being compared to another.
44 posted on 03/24/2004 1:01:17 PM PST by kkindt (knightforhire.com)
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To: biblewonk
We ALL know that guy...Deacon Cletus Annoyance
45 posted on 03/24/2004 1:01:53 PM PST by tcuoohjohn (Follow The Money)
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To: LiteKeeper
To go from one species to another requires a radical change in information.

Yes, that's why the process frequently takes millions of years.

Since there can not be "self-generated" information in the DNA, the information that makes Homo Sapiens what they are had to have been in the DNA before the "split."

One can say that it was.

If it was there before the "split" why don't the chimps have the exact same body as we have?

Because they express different parts of the information than we do. Think of it this way. HTML includes all the information expressed in this thread. It also includes all the information expressed in this thread. The two threads are not the exact same.

46 posted on 03/24/2004 1:05:40 PM PST by AntiGuv (When the countdown hits zero, something's gonna happen..)
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To: kkindt
See my posts #25 and #26.
47 posted on 03/24/2004 1:06:40 PM PST by AntiGuv (When the countdown hits zero, something's gonna happen..)
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To: Junior
"It only would've become fixed if it coincided with mutations that reduced tooth size, jaw size and increased brain size. What are the chances of that?"

I don't know the answer to that, but sometimes one mutation has broad spectrum of effects.

48 posted on 03/24/2004 1:07:52 PM PST by js1138
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To: Modernman
Survival of the adequate? Actually, I see your point. If no other mutations were to ever occur, the primates with the stronger jaws would probably outlast the primates with the weaker jaw, over a number of generations. However, since other mutations do occur, the primates with the weaker jaws are in a position to profit from them, in the genetic long-run.

Another way to think about it is that all sorts of mutations occur and have no effect on Dariwinian fitness of the species until the environment changes and the mutation then confers an evolutionary advantage on its holders. A good example of a mutation which is just there and has yet to confer an evolutionary advantage (or disadvantage) is the ability to roll one's tongue. Some people have it, other don't and it doesn't seem confer a any kind of evolutionary advantage either way. Until an environmental change happens that favors (or disfavors) individuals with that ability, it just continues along in the genome.

By the way, the loosed jaw mutation wouldn't necessarily confer an evolutionary disadvantage on individuals with it in an environment with abundent "soft" food. If there was already a genetic pre-disposition in primates for larger brain growth, the occurrence of the jaw loosening could have been the key that unlocked the door to bigger brains in a relatively short timespan. That, in turn, would have conferred a significant advantage on the proto-humans.

49 posted on 03/24/2004 1:08:03 PM PST by hc87
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To: Junior; Diogenesis; Registered

But nonhuman primates — including our closest animal relative, the chimpanzee — still carry the original big-jaw gene and thanks to stout muscles attached to the tops of their heads, they can bite and grind the toughest foods.

This article explains a whole lot.
50 posted on 03/24/2004 1:08:23 PM PST by adam_az (Call your state Republican party office and VOLUNTEER FOR A CAMPAIGN!!!)
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To: AntiGuv
One may also posit that since increased intelligence is such an obvious evolutionary advantage...

There are folks who belive that big brains in mammals are a result of sexual selection, which is to say that smarter guys get more chicks. Consider your brain to be equivalent to a rack of antlers. Or in the case of democrats, a flaming red butt.

51 posted on 03/24/2004 1:16:14 PM PST by js1138
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To: explodingspleen
"Selective pressure" doesn't cause mutations. Mutations happen all the time, every day. And if the mutation is heritable, then the offspring will inherit it. So the only question is, does any given mutation make it less or more likely that the offspring will survive?

If it is a trait which makes survival easier, then more of the offspring will survive than otherwise.

If it is a trait which makes survival more difficult, then fewer of the offspring will survive than otherwise.

But if it's merely neutral in effect, it won't have any particular effect on the offspring.
52 posted on 03/24/2004 1:16:41 PM PST by CobaltBlue
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To: Agnes Heep
Where does the variation in jaw sizes come from? From minor mutations in the genes for jaw size. A gene gets turned off or turned on, a nucleotide base gets replaced, deleted or added in (the latter through such processes as replication errors or viral insertions) and voila! You have a minor variation in jaw size that can hang around in a population for generations before a situation pops up -- for instance, the need for brain space -- that brings this variation to the fore.
53 posted on 03/24/2004 1:18:55 PM PST by Junior (No animals were harmed in the making of this post)
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To: explodingspleen
Well, if that applies here then how did the jaws evolve that way in the first place? According to what you have said, there should be no selective pressure to develop such a jaw. But if there is selective pressure, then the original contention is justified.

You can't have your cake and eat it too.

Simple. Environments change. A trait which confers an advantage in one environment may have no effect, or may be detrimental in another environment. For example, the human body's ability to efficiently convert calories to fat and store it and then slowly burn it off is a great trait in an environment which has abundant food supplies during the summer and little food during the winter. The same trait will cause obesity and heart disease in an environment with abundant high calorie food all year long.

54 posted on 03/24/2004 1:21:32 PM PST by hc87
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To: kkindt
But there is a difference. So the difference is chalked up as a mutation???

The difference arose because of a change (mutation) in the genes. Mutations are not gross changes. Rather, they can be as simple as a flip-flopped gene, or a gene that's been turned off (such as our Vitamin C synthesizing gene), turned on, added to or deleted.

55 posted on 03/24/2004 1:22:08 PM PST by Junior (No animals were harmed in the making of this post)
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To: tcuoohjohn
I'm one.

I've long been curious whether cosmic rays could mutate even a protein in a gene's structure in ways that might alter the replication of subsequent genes. Hence, evolution.

'Don't see any conflict in this with The Bible.

56 posted on 03/24/2004 1:22:21 PM PST by onedoug
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To: Junior
Igniting a scientific furor, scientists say they may have found the genetic mutation that first separated the earliest humans from their apelike ancestors.

First? The hominids had been walking upright for a couple million years before this mutation came along. And their jaws had been smaller than chimp jaws for a long time, too, without any great increase in brain size.

I'm not saying that they haven't uncovered a significant step on the road from ape to man, but it looks like just one out of many.

57 posted on 03/24/2004 1:23:07 PM PST by Physicist
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To: Junior
The monolith only turned a thigh bone into a spacestation (while playing the Blue Danube Waltz).

One of two or three times in a move where I have shed tears. Of course I saw it on the big screen, before anyone knew it would be a classic. I think there were ten other people in the theater.

58 posted on 03/24/2004 1:23:25 PM PST by js1138
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To: js1138
Bigger brains do indicate an increased ability to plan and be more successful in bringing home the bacon, so I can see how sexual selection could lead to larger brains.
59 posted on 03/24/2004 1:25:58 PM PST by Junior (No animals were harmed in the making of this post)
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To: Junior
I always wanted to meet Clarke and have a chat with him about the implied necessity of having aliens jumpstart humanity. And then punch him in the nose.
60 posted on 03/24/2004 1:26:31 PM PST by js1138
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