Cooper: Assumptions in mutation rate

Rather like point mutations in that respect.

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He’s talking about the substitution rate, I believe.

I’m pretty sure that he’s referring to allele frequencies.

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Only one thing is clear: nobody knows what he’s talking about, present company not excepted.

No I am looking at possibilities where
a) the count of mutations might be low and still lead to large phenotypic change.
b) Many neutral mutations might be activated by a single mutation… leading to a sudden change in a single generation.

All of which boils down to
a)whether a small population can show a big difference from the rest of the lineage.
b) Whether such a population can be detectable by population mechanics.

I am not going anywhere specific with this. It’s an exploratory question.

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This sounds kind of like the Richard Buggs idea to some degree. A quick dip in population to even a single couple (i.e. the biblical adam and eve) + quick growth after. But I’ll have to take your word for it that this is an exploratory question only.

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The first is certainly possible. But why are you talking about it here? It’s irrelevant to the topic begin discussed. The second is irrelevant too but less likely; such large changes as you’re thinking about (or so I suppose) are unlikely to be advantageous, and a gradual approach is more likely.

Shouldn’t you explore it somewhere more appropriate?

It’s relevant to the big picture… why do you think the question about mutation rates came up in the first place?

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In connection with inferring the date for which a bottleneck of 2 can be ruled out. It had nothing to do with whatever you’re talking about.

@swamidass seemed to somewhat understand what I was getting at and replied with helpful answers. Your replies seem to try really hard to come up with non-answers. I’m clearly not an expert in this field, so I’m trying my best to ask the questions in a way that could be understood. But, I guess I’m missing the mark and will come back another time.

OK, got it, thanks. But I do appreciate your thoughts on the topic. I’ll do a deeper dive on my own and try to learn a bit more. Reaching out to Venema and others to learn more as well.

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Thanks, yes, this sounds right. Is there any connection between mutation rate and allele frequencies? Also, wouldn’t humans, with strong group/social evolution dynamics in play, at least for the past couple of million years, need to be looked at differently than other species? Doesn’t seem like a recent mutation rate would be as accurate.

Then why did you keep using the wrong term long after I pointed this out?

No, not in any sense that you are grasping for.

How would that change any of the basic chemical mechanisms underlying mutations?

You’re back to conflating allele frequencies with mutation rates. Please stop.

Thanks for the kind guidance. =) I’ll go learn a bit more and come back another time.

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Yes, that is true. I explained it to you 4 days ago, in post 27. You even responded to that very post, but not to the part of it with my explanation.

Another interesting recent study:

In my reading of this, the mutation rate varies by population/culture and also varies over timescales:

“I have revealed a previously undetected difference between Europeans and other ethnic groups…the human mutation rate has evolved on a much faster timescale than previously believed.”

“DNA replication fidelity has not remained stable even since the origin of modern humans and might have changed numerous times during our recent evolutionary history.”

And then this one is also fairly recent:

https://www.nature.com/articles/s41559-018-0778-x

"These estimates suggest an appreciable slowdown in the yearly mutation rate in the human lineage that is likely to be recent as genome comparisons almost adhere to a molecular clock. "

Which also seems to indicate a recent slowdown in the human mutation rate.

Corrected: Recent chimps show 50% greater annual mutation rate vs. recent humans, so is it possible that more ancient humans and then specifically certain populations of humans (see paper above) had greater than 50% mutation rate of modern humans?

Nope. That post was regarding the Ireland study and I was commenting on alleles/traits in that study. It wasn’t regarding when I was referring to effective mutation rates and where I used very specific examples of what I called “effective mutation rates,” that was in another thread (post 45?).

Either way, I still think there is a concept of mutation rates that vary by population and thus, the overall mutation rate across all populations of humans is an outcome, or effect, of the sub-rates among smaller populations…it’s still an effective rate.

Maybe an “average” is more understandable, but that’s not right if you look at the example I used, the average would be 12 – since some populations don’t reproduce, an effective rate is more accurate and would be 14. And if you are measuring mutation rates, not allele frequencies (which are static point in time), that’s not quite right either.

Either way, I get it, you don’t like/understand my metric here, so I’ll go back and see if there is some other metric that makes more sense.

Yep. You quoted a journalist’s false equivocation between allele frequency and mutation rate and I pointed out that the journalist was wrong.

Your specific examples were allele frequencies, as far as I could tell, but then I’m just a geneticist…

I pointed out that you had been misled by bad journalism. I don’t see why you are so offended.

I don’t see anything about culture. Where do you see it?

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Where are you getting 3x from? The paper you cited found that chimps have a mutation rate about 1.5x that of humans, not 3x.

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Note that the reported difference is small and present in only one uncommon type of mutation. I’m dubious that this is as big a deal as you imply. I should also note that the difference between chimp and human mutation rates could be due to two factors: shorter generation times and greater sperm production in chimps than in humans.

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