Human Evolution and Frameshift Mutations

How did humans evolve from early primates? How did “human like” traits such as a smaller jaw relative to apes and hairlessness pop up when they don’t appear in the wild in any real frequency? The typical explanation for why humans have smaller jaws than early primates is that our diets changed and our brains got bigger, pressures that caused a smaller jaw. But there’s another way to look at this – what if our diets changed and our brains got bigger due to proto-human society dealing and adapting to an increasingly frequent and nearly catastrophic mutation of the jaw?

Myosin Heavy Chain 16

The human and chimpanzee genomes have both been mapped, so we are able to make comparisons between them. This is extremely useful, as chimpanzees and humans shared a common ancestor, but genetic lines split apart approximately 7 million years ago. So examining the differences may tell us something about how humans evolved.

myosin

There is a protein called myosin heavy chain 16 (aka MYH16) which in chimpanzees and other non-human primates is expressed almost exclusively in their powerful jaw muscles. These strong jaws are an adult trait – a logically complex one that would be more sensitive to random mutations.

And that’s exactly what seems to have happened. Non-human primates have DNA that codes for the complete MYH16 protein. The corresponding part of human DNA is missing a random chunk – which causes a frameshift mutation.

Frameshift Mutations

What is a frameshift mutation? Well, first let’s find out how we build proteins. We have a strand of messenger RNA (imagine a long tape with letters on it) which a ribosome (hell, imagine a tiny elf) uses to produce proteins. The critical thing to consider is that a ribosome builds a protein by reading three nucleotides at a time, and these three nucleotides code for a certain amino acid. These amino acids are chained together to produce proteins. Some combinations of three nucleotides can also act as “punctuation marks”.

"Wait, did you say there's three million more pages after this?"

So our wee elf looks closely at the long tape of letters, and starts off with the first three. His “frame”, the little chunk he works on, is three letters long. This frame is an instruction to build a certain amino acid, which he makes. He then goes along the tape, three letters at a time, making an amino acid each time that he sticks onto the last. This will eventually create a long chain of amino acids that we call a protein. But each frame doesn’t need to code for just an amino acid – it can also code for other instructions (those “punctuation marks”) starting or stopping this chaining process.

Now you may have guessed what a frameshift mutation is by now – it’s where a single letter in our tape disappears, or a new random one gets thrown in, causing our frame to get shifted slightly. This means that the resulting triplets after this error will be horribly wrong. It’s like the difference between

HEY MAN HOW ARE YOU BRO and
HEY MAN HWA REY OUB RO_ or HEY MAN HOQ WAR EYO UBR O__

if one were to speak in sentences containing only three letter words. The first sentence makes sense if we parse three letters at a time. The two others have a random letter removed, and a random letter added in. If we parse them three letters at a time, the sentence turns into garbage halfway through! The resulting nonsense (or malformed protein) is a result of a random insertion or deletion of information (nucleotides) and our “frame”, the manner in which we interpret it.

Consequences

So a frameshift mutation occured in early humans that affected the production of the protein MYH16. This protein is involved in the strong powerful jaws that primates have, but not humans. We often think of mutations as a simple little “blip” in the genetic code, but the way our bodies parse this code can cause cascading effects. Instead of MYH16 having a slightly different amino acid in a random spot from a random mutation, the specified amino acids after the mutation will change completely!

So you might think that we’ll have some odd protein that’s mostly normal, and the parts after the mutation affected by the frameshift will be wonky. But – and this is an important but – the triplets code for “punctuation marks” too, remember? In this MYH16 mutation, it turns out that this frameshift caused a punctuation mark (aka a stop codon) to just pop up – so the protein is cut off far sooner than it should be! Not too good for any traits relying on that protein.

Look at the differences between these gorilla and human skulls below. The large bony ridges on the gorilla skull on the left are where the larger jaw muscles attach – otherwise they would literally tear off of the skull. You can also see how the gorilla skull seems “empty” on the sides – that’s because it is filled with large jaw muscles, reducing space available for the brain. The red tinted parts are where the jaw muscles attach – you can see how much more “anchoring” a gorilla’s jaw muscle requires.

human_gorilla_skulls

And this is where it gets interesting. This mutation in our human ancestors happened approximately 2.4 million years ago. Right before our ancestors stopped looking like primates and started looking like us. If you lacked the protein that operated a powerful jaw muscle, you could not carry a large jawbone around and use it effectively. If you can’t carry a large jawbone around, there is strong selection pressure for those with smaller jaws to survive. If your jaw gets smaller, then the loading of the jaw on the skull decreases – bony ridges disappear, and the skull can get larger and lighter since it doesn’t need to be as strong. A larger and lighter skull can accommodate a bigger brain.

It appears that a random mutation, flipping a single bit of genetic information, has beautifully complex cascading results. Viewing the world as a hostile agent of noise and fury, winding down to an eventual death by entropy is wrong. You can fold a piece of paper, give it to a child, and have them cut crude holes in it with cheap scissors – and when you unfold it, the snowflake is beautiful.

So too can randomness be folded and twisted by logical structures in biology and physics – and the result is our amazing world.

About the Author

lives and works in Ontario, Canada.

20 Responses to “Human Evolution and Frameshift Mutations”

  1. Posts like this is why I am always happy when your musings appear in my RSS-reader.

    Keep up the good work!

  2. This is very interesting!

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  4. !

    The Roswell alien has almost no jaw!

  5. Fascinating, very interesting read.

    found via popurls.com

  6. Nice. One correction: humans *are* primates.

    1. Ack, you’re right, my wording is unclear. Edited a bit to reinforce the fact that I’m referring to non-human primates. Thanks.

  7. What a great article – and good job making it accessible to people like me! Thanks keep it up!

  8. shopped

    1. The image is actually from the DVD extras where Buddy has to make a scale model of hemoglobin for little Timmy, who loves biology. Honest.

  9. So your thinking is that the jaw was first..and everyone is saying that the smaller jaw’s ability to subsist must be due to lower calories needed or something…

    What if the reproductive bias was toward smarter (bigger brained) males..not because they looked sexy but because they could outsmart others when it came to reproducing..and the heads needed a smaller jaw for the bigger brain…and we needed to use our mouth less and less as we got smarter with using our hands and tools….so bigger brain = less of a need for crazy jaw and increased brain space (also helped along with smaller jaw)

    I wonder if diet was the real catalyst for the divergence–

  10. Since prominent jaws have never been, to my culturally poisoned mind, labelled attractive, maybe the sex-selection factor was all it took.

  11. How would such a frameshift mutation prove adaptive to those apes at the time? Weaker jaws coming first would not make them have larger brains automatically, so they would just be weaker-jawed apes of average intelligence and would have died off. Why would any ape with this mutation survive long enough to start to evolve smaller jaws and eventually larger brains in the first place?

    1. It doesn’t need to be an advantage – they just need to survive. Early humans were hardly rulers of the Earth. Those with social skills and the ability to help each other would survive, those without would die.

      A weakness like this could arise from self-selection for social traits, (see Clever as a Fox for traits arising that are not directly selected for), and end up reinforcing these behaviours as only those social enough to band together and learn to adapt would survive.

  12. [...] Human Evolution and Frameshift Mutations | gmilburn.ca – How did humans evolve from early primates? How did “human like” traits such as a smaller jaw relative to apes and hairlessness pop up when they don’t appear in the wild in any real frequency? The typical explanation for why humans have smaller jaws than early primates is that [...]

  13. [...] us that, but also taught us what happens when we get old.  Christie really liked Geoff’s human evolution and frameshift mutation explanation, saying that it was a “very interesting hypothesis about human departure from [...]

  14. “Viewing the world as a hostile agent of noise and fury, winding down to an eventual death by entropy is wrong. You can fold a piece of paper, give it to a child, and have them cut crude holes in it with cheap scissors – and when you unfold it, the snowflake is beautiful.

    So too can randomness be folded and twisted by logical structures in biology and physics – and the result is our amazing world.”

    That is beautiful.

  15. [...] eat sometimes, especially since I have a tiny mouth. (Although perhaps having a smaller mouth is a good thing?! Smaller mouth = bigger brain? Something to ponder!) Anyway that was a turkey, spinach, Dijon [...]

  16. Nice Work! Kind of learning about this in my biology class. I believe the cause of this could be natural selection and variation (when we are speaking of this in an evolutionary point of view). Frame shift mutations is a logical reasoning behind it! :) Great work by the way. Keep it up! Do you have more articles such as this one?

  17. [...] The brain mimics what you see.  Have you ever watched somebody yawn and had the urge to yawn, too?  Psychology studies theorize that laughter is a social cue for mimicry. Just hearing someone else laugh stimulates the region in your brain associated with facial movements. Why does this happen?  Just watch kids … mimicry plays an important role in social interaction. Sneezing, laughing, crying and yawning may be ways of developing strong social bonds within a group. [...]

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