News for hackers. Stuff that matters.
Re:Human gene linked to bigger brains was born from seemingl... by dekhn on Friday January 06, 2023 @11:16AM (#34276508)
There are parts that are almost certainly not under functional selection and provide no benefit whatsoever- with Alu sequences being the best candidate. Even in tthe case of Alu, they do seem to have some vague effect on regulation of transcription... although they're not what we would call "genes" or "regulatory regions".

In other cases, there are just lots and lots of duplicates of the same genes over and over. Other parts appear to be forges of gene creation- either through gene duplication and divergent evolution, or through some other mysterious mechanism we don't know yet.

Certainly, we've had parts that looked like they were nothing at all and ended up being very important, and other parts that looked like they were incredibly important, but were really just the side effect of some effective parasite.

It's sort of not even an interesting debate any more, as most of the initial positions everybody held were changed when we interrogated more, and better data.

Re:Human gene linked to bigger brains was born from seemingl... by gaboot on Friday January 06, 2023 @11:22AM (#34276634)
There are also fairly strict limits, given human mutation and reproductive rates, on the amount of information that can be preserved in the genome. Most of the genome is therefore meaningless (although not necessarily useless). As this article points out, these regions allow for random creation of novel proteins
Re:Human gene linked to bigger brains was born from seemingl... by jl6 on Friday January 06, 2023 @11:52AM (#34277183)
Even for the “no benefit whatsoever” parts, is it not possible that they influence (and are possibly crucial to) the rest of the system just by providing spacing between other more-apparently-functional parts?

I’m thinking by analogy of executable programs that have runs of zeros. The zeros don’t necessarily do anything, but remove them and everything else is out of alignment.

Re:Human gene linked to bigger brains was born from seemingl... by dekhn on Friday January 06, 2023 @12:09PM (#34277485)
I am open to the idea that "boring duplicated regions" performance some vague function through spacing. Some folks have proposed doing experiments where the spacers are removed, or replaced with other sequences, but they are extremely hard experiments to properly do (in a way that convinces the field).

We already know that enhancers "work at a distance" and it's not clear what "distance" exactly means, and it gets into complicated 3D structure of the genome inside a cell; see https://en.wikipedia.org/wiki/Enhancer_(genetics)

Personally I think that the best way to think about the genome is to unlearn most of the preconceptions you learned in genetics and instead think about it in terms of biophysics and development and machine learning: you'll never realyl be able to understand the true function of every little bit, but you cvan probably create an approximate model that explains the vast majority of biology with relatively few variables, and some deep models that contain all the necessary statistics to model these systems accurately.

Re:Human gene linked to bigger brains was born from seemingl... by MichaelZuo on Friday January 06, 2023 @02:20PM (#34279498)
It sounds like because there is a very complex 3D structure that the 'spacing' function could actually be extremely important. Far more so than zeros in machine code.
Re:Human gene linked to bigger brains was born from seemingl... by gumby on Friday January 06, 2023 @12:00PM (#34277329)
You could make the same claim for structure padding in memory. I wouldn't call that useless either.
Re:Human gene linked to bigger brains was born from seemingl... by dekhn on Friday January 06, 2023 @12:11PM (#34277521)
I love the analogy. Many times I think about the genome as a bunch of machine code it's my job to reverse engineer. That was a good part of my career- probably 20 years- before I realized the problem was that it's much too hard to actually "prove" anything about systems like genomes.
Re:Human gene linked to bigger brains was born from seemingl... by gumby on Saturday January 07, 2023 @11:23AM (#34289506)
That object code has been heavily modified during runtime for billions of years. We have no access to the original source code for any of the patches, though at this point it would be incomprehensible anyway.
Re:Human gene linked to bigger brains was born from seemingl... by eternalban on Friday January 06, 2023 @06:04PM (#34282646)
This link dives quite deep into what is an ALU, for those interested.

ALU elements: Know the SINEs [short interspersed elements]

Alu elements are primate-specific repeats and comprise 11% of the human genome. They have wide-ranging influences on gene expression. Their contribution to genome evolution, gene regulation and disease is reviewed.

https://genomebiology.biomedcentral.com/articles/10.1186/gb-...