Function of 80% of the Human Genome Charted 112
ananyo writes "In what is likely to be a historic moment in science, ENCODE, the Encyclopedia of DNA Elements, has published 30 papers in Nature, Genome Research and Genome Biology today, assigning some sort of function to roughly 80% of the genome, including more than 70,000 'promoter' regions — the sites, just upstream of genes, where proteins bind to control gene expression — and nearly 400,000 'enhancer' regions that regulate expression of distant genes. The project was designed to pick up where the Human Genome Project left off. Although that massive effort revealed the blueprint of human biology, it quickly became clear that the instruction manual for reading the blueprint was sketchy at best. Researchers could identify in its 3 billion letters many of the regions that code for proteins, but those make up little more than 1% of the genome, contained in around 20,000 genes. ENCODE, which started in 2003, aims to catalog the 'functional' DNA sequences between genes, learn when and in which cells they are active and trace their effects on how the genome is packaged, regulated and read. Nature has set up an ENCODE site with an explorer, that groups the papers by topic, and collects all the papers, which are available free."
Most of it is control code (Score:5, Interesting)
Just happened to hear an NPR interview on the way back to the office. The researcher described most of the 80% as regulating the expression of the protein codes. Brace yourself Slashdot: he called it the 'operating system'.
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I always thought JCL on MVS was more "natural". JCL... its in my genes...
Re:Most of it is control code (Score:5, Insightful)
Yep, and the OS can get reprogrammed by viruses.
Various fields borrow terminology from each other. Not that big a deal. My toaster has a "cancel" button. An old-fashioned "eject" would make more sense to me, but I guess mechanical terminology is less familiar to most people.
Re:Most of it is control code (Score:5, Interesting)
It's also got fairly good licensing terms - I mean the OS can be replicated (it is billions of times - once for ever cell), and the OS can make copies of itself (mitosis), and even end up altering itself through random changes (mutations).
A virus only infects one cell to duplicate itself - all the other uninfected cells have their own copy. The antivirus system basically works by killing infected cells.
So all in all, an interesting OS - security worse than Windows (i.e., none at all - just random strings of genetic code can alter the OS - you don't neve need root! just physical access!), yet it really works by sheer number of copies.
Licensing terms, oh my. (Score:3)
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Bah. You think that's vendor lockin? Consider the same vendor that created this OS also owns the entire universe. Now that is lockin.
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But use the wrong process for replication, and you'll end up paying for it for almost two decades!
It gets worse. You get liability even if the process is not completed [wikipedia.org]
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Yet just a small mutation can have disastrous consequences for the organism. Just insuring the number of copies is not enough. What is interesting is that the DNA copying process actually prevents 'forking' the source code
http://www.natur
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Yep, and the OS can get reprogrammed by viruses.
Various fields borrow terminology from each other. Not that big a deal. My toaster has a "cancel" button. An old-fashioned "eject" would make more sense to me, but I guess mechanical terminology is less familiar to most people.
I'd be a lot more impressed if your toaster had an UNDO button.
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Jeez, I can't think of any kitchen appliance that wouldn't be improved by such a feature. Alas, entropy is an issue.
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The real innovation wasn't the button label, but figuring out how to turn partly-toasted bread back into fresh.
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So when is the gcc port going to be finished?
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A good start, but wake me up when there's a high-level language that compiles into DNA.
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http://research.microsoft.com/en-us/projects/dna/
a book downloaded into DNA (Score:2)
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Just happened to hear an NPR interview on the way back to the office. The researcher described most of the 80% as regulating the expression of the protein codes. Brace yourself Slashdot: he called it the 'operating system'.
So, can we run Linux?
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It's called "genome base one"
it basically means all organisms on Earth, with DNA/RNA, run the same "OS" -- Genome Base One.
We simply have different genomes, and so we are different creatures.
but it's all the same.
I also own the site genomebaseone.com..!
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Imagine a beowolf cluster of us! Oh, wait, this is the internet, it's probably been done, with video.
Wait for the lawsuits (Score:5, Insightful)
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Mod the parent up -- this is exactly what will happen in the future. If you think the Apple / Samsung battle was bad just wait until major drug companies start battling over which genes their research cores "invented"
We are entering into an interesting century that, according to law, may redefine what it means to be an individual.
Re:Wait for the lawsuits (Score:5, Informative)
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However, if you sequence/genotype your genome and then check it for BRCA mutations then you're OK and do not infringe on Myriad's patent. That has been affirmed by the court decision (the very same one that upheld the patent claims on BRCA gene isolation process), because th
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Historic, or a bit arbitrary? (Score:4)
In what is likely to be a historic moment in science
I'm not knocking the achievement, but wouldn't it be a more truly historic moment when they've nailed down the function of 100% of the genome? Where was the big celebration when they got to 64.576%?
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The historic part is its release day. Kind of like that other /. story where gathering 14 million or 13 million or whatever iphone UDIDs into a big pile wasn't the story, the story was releasing them for anyone to look at and download and mess with.
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Maybe not where you work, but at my office we had cake that day.
We have cake pretty much every day, since a bunch of people I work with are insanely avid bakers.
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I think it's more along the lines of using everything we know, they mapped everything they could. And now they're done. So current methods can explain some kind of purpose (though I'd be willing to bet some regions have additional uses beyond what was found) for 80% of the human genome. It's possible that the remaining 20% actually does nothing (we know some of it at least is leftover from retro-virus infections for instance) or that it does stuff we don't understand yet or most likely some of each. Thi
What about the 'junk' DNA? (Score:2)
We were told that most of the DNA was junk; you mean the biologists wised up and figured out that nature doesn't deal in junk?
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If memory serves, 'junk' was some unfortunate-but-persistent description of non-coding regions(which are, indeed, the great majority of the genome); but that work on what exactly the regions that don't code do do has advanced considerably since then...
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They're called non coding sequences and while many have no perceivable function, some do have regulatory functions. Not to mention that you can get a lot of neutral drift out of those regions.
Re:What about the 'junk' DNA? (Score:4, Informative)
But nature most certainly deals in junk. And there is DNA in you right now that's non-encoding, non-functional, and not selected for. IE, it's junk. It just happens to be the random uninitialized value or a previous mismatch of old code that was cut long ago. Deal with it.
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We have a library of what DNA codes for various screws and bolts.
It appears the "junk" DNA codes for where they go.
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They serve no function at all and can be safely deleted without any effect on viability. In fact, pufferfish genome has almost none of them and it has no discernible effect at all. On the converse, plants have in general much m
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Than are dreamt of in your philosophy. " [Hamlet,1,v]
"No discernible effects on their cell viability" - that is to say, as yet to be discerned. Nature has a way of surprising us, and I dare say that is half the fun. Calling something 'junk' just doesn't do justice to the fact that the organism lives in spite of our lack of understanding it. Calling something 'useless' is really not progressing knowledge in my humble opinion. Better to shelve it off to "don
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You haven't confirmed shit, other than you're a moron. Looking back in 20 years you'll feel stupid when it turns out that DNA actually does have a use after all.
Humanity and its arrogance. Jesus Fucking Christ.
Yes, we HAVE confirmed that most DNA is junk. See this talk by biologist PZ Myers [youtube.com]. (Money quote starts at 35:20.) Cyberax's figures are an exaggeration, but... roughly 5% is functional (protein-coding, rRNA, tRNA, microRNA), 10% is structural (centromeres and telomeres), 45% of the human genome is known parasitic DNA (LINEs, SINEs, endogenous retroviruses, transposons), and only 40% is unexplained. As PZ Myers asks, if the remaining 40% is all functional... why do onions need ten times as much as humans
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As PZ Myers asks, if the remaining 40% is all functional... why do onions need ten times as much as humans need,
When you question them, this is all the "Junk DNA" proponents' arguments ever boil down to: "I don't understand it, therefore it's junk."
and why can the fugu pufferfish thrive without any of it?
Thrive....under what conditions? And what is your definition of "thrive"? Have you subjected the animal to every possible condition it could ever experience in life, to completely ensure that the DNA in question can never be triggered under any circumstances?
Of course you haven't--because you haven't the foggiest clue how it all even works. "Junk DNA", like many other idio
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As PZ Myers asks, if the remaining 40% is all functional... why do onions need ten times as much as humans need,
When you question them, this is all the "Junk DNA" proponents' arguments ever boil down to: "I don't understand it, therefore it's junk."
We DO understand what 60% of the genome is doing. 45% of it is parasitic. Do you really think that LINEs, parasitic DNA strands that make copies of themselves over and over again, are NOT junk?
and why can the fugu pufferfish thrive without any of it?
Thrive....under what conditions? And what is your definition of "thrive"? Have you subjected the animal to every possible condition it could ever experience in life, to completely ensure that the DNA in question can never be triggered under any circumstances?
Of course you haven't--because you haven't the foggiest clue how it all even works. "Junk DNA", like many other idiocies in the long history of science, is the legacy of morons.
Fugu "thrive" in the sense that they're alive and reproducing. Fugu are not dying off. Fugu are not endangered. Fugu are not at an evolutionary dead end suffering under a genetic legacy that's handicapping them, like pandas or the various all-female species of parthenogenic whiptail lizard are. Like I said, thri
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It's a frozen accident during early attempts to clone genes. When you were cloning genes, you got lots and lots of other non-coding regions into your test-tubes and bacteria that you weren't interested in. Hence , it was called 'junk DNA'. Hence, you know that 'junk DNA' that you get when you try to clone something? Most of the genome is made of that stuff.
It was by no means a statement on the importance of that DNA.
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That's Francis Crick's interpretation of it. The most popular usage of the term is, however, this : Biémont, Christian; Vieira, C (2006). "Genetics: Junk DNA as an evolutionary force". Nature 443 (7111): 521–4
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Uhm, no. "Junk" DNA is really junk. It consists of repeating regions, transposons, inactive and decaying retroviruses, etc. It has no direct functions, and its indirect usability is questionable. For example, pufferfish has almost no junk DNA while some plants (corn, for example) have lots of it without any visible effects on mutation rates or cell viability.
So if this is 100% true. Let's remove all this dna and see if you continue breathing. Unfortunately you don't know for sure what's its used for so you determine it to be junk.
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Maybe *you* treat *your* DNA like junk, leaving it on the floor or flushing it down the shower drain, and all that.
Biologists treat it like mice and make it run mazes and solve puzzles. They think it's pretty smart.
Junk DNA? (Score:2)
Am I misinterpreting this, or is the usual belief that many genes are obsolete sequences that have no current function being called into question?
Re:Junk DNA? (Score:4, Interesting)
Uh, it was called into question over a decade ago. No scientific paper or journal article ever referred to it as "junk" DNA, it was called non-encoding regions and it was understood fairly early on that at least some of the area held a regulatory function. What wasn't realized until the human genome project concluded was just how little of the genome was encoding and how massively important the regulatory regions were (the human body creates a heck of a lot more than 10,000 different proteins so the regulatory regions must be more than simple on/off switches but must also have the ability to affect structural changes in the protein encoding sequence),
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So, non-coding genes don't create any external proteins, but do help make the genome as a whole work? That still does away with the concept of junk DNA.
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Some DNA codes for proteins.
Some DNA doesn't code for proteins, but regulates expression of other parts of the DNA.
Some DNA has other functions, (e.g to do with mitosis, RNAs etc.)
Some DNA has no function, and is just there because there is no selection pressure to remove it - this can be called junk DNA.
Re:Junk DNA? (Score:5, Insightful)
Am I misinterpreting this, or is the usual belief that many genes are obsolete sequences that have no current function being called into question?
I don't think any serious molecular biologist ever thought the majority of DNA had no function, just as no neuroscientist ever believed that we only use 10% of our brain, but that's precisely the sort of sound bite that, when uttered in a press release somewhere, echos around the public consciousness forever and never dies because it provides a conveniently sciency premise for the next batch of rebooted superhero origin stories. The distinction is that before this study, we knew non-coding DNA was involved in regulation but not to what extent; i.e. there were plenty of specific anecdotal findings but nothing this systematic and large scale.
As for the significance of this sort of work, yes, it exactly like release day for a major software package, it's an anticipatory excitement and not a "we finally found the Higgs Boson after decades of searching" type of achievement. Molecular biologists and geneticists everywhere can now do a simple web search see how this affects the system they are working on without needing to perpetually beg the labs that possess the specialized high-throughput instrumentation to do a one-off experiment just for their favorite gene. . .
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Actually, most molecular biologists KNOW that the majority of _eukaryotic_ DNA has no function. It's junk, deal with it. Fairly small parts of non-coding DNA perform useful functions: gene expression regulation (less than 0.1% of total DNA), mechanic 'handles' for cell replication machinery (about 5% of DNA), various RNA enzymes (less than 1%), etc. But most of it is still junk.
Sure, it'll never add up to an actual majority of the genome, but do you seriously believe the proportions you quote will still be valid in say, 5, 10 years? Just because something doesn't light up on your nifty hidden markov models doesn't mean there aren't any more epigenetic or non-coding regulatory bits hidden between those mountains of retrotransposon corpses just waiting to be discovered.
Show me a viable cell line with a 90% of the genome removed and then I'll believe you. Until then. . .
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Actually, known useless DNA already adds up to the majority (>66%) of the genome. It includes: LTRs (8%), LINEs (17%), SINEs (11%) - that's 45% of known 100% junk. Then we have around 8% of pure viral DNA in our genome (i.e. with remnants of genes encoding viral proteins) - that's already over 50%. And then there are portions of genome with known indirect functions but that don't code anything (padding between proteins, introns, telomeres, etc). In short, over 66% of DNA is known to have no direct functionality.
There was a few surprising discoveries, sure. RNA enzymes were a real shock, for example. All in all, about just about 15-20% of human DNA now has 'putative junk' status that might be changed later with new discoveries.
You've listed the things we know are useless and pointed out that it adds up to >66%. No argument there. You also hypothesize that there's room for an order-of-magnitude increase in the things that *might* be useful from future, surprising discoveries. That's entirely my point!!
Exactly why are we arguing again?
I can't help but point out, though, that the RNA world folks were all saying "I told you so" when the RNA bits were discovered . . .
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We also know how LINEs and SINEs work on molecular level (i.e. how they propagate within the genome) and we've discovered several mechanisms that inhibit their propagation.
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That 10% of the brain thing was the usual pop culture nonsense, but I've heard a lot of reputable scientists talk about junk DNA.
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That 10% of the brain thing was the usual pop culture nonsense, but I've heard a lot of reputable scientists talk about junk DNA.
Yeah the analogy is imperfect but they are both rooted in the common assumption that if we can't assign a function to something then it doesn't do anything at all - which is troubling to me because we don't even know what alot of the "real" genes do yet to do an accurately accounting how much is NOT useful.
So while it'll probably remain true that "junk DNA" will outnumber "useful" DNA in the final accounting (80% is surely a headline-grabbing overreach), there will also continue to be a steady progression o
preserved regions likely not junk (Score:2)
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You know, I'm grateful to all the people who want to correct my ignorance about "junk" DNA. But I wish the ones who've joined the conversation late would read the previous comments,.
The software analogy (Score:3)
Re:The software analogy (Score:4, Interesting)
Oh yeah, btw, we use a distributed revision control with about 7 Billion [wikipedia.org] branches and no one true trunk (although a lot of people claim otherwise). There's a lot of wanton merging (giggity) and branching, and it seems like every time that happens there's a chance that the revision control just fucks something up [wikipedia.org] and makes a mess of it all.
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Our backup policy is similarly mind-boggling - we keep this many [answers.com] copies of each branch, but they're all on-site.
When we understand how this works (Score:4, Interesting)
The understanding of how DNA works, ( and correspondingly, how to hack it ) is the ultimate reverse-engineering accomplishment.
Life is a textbook, full of worked examples. We are at the stage we realize there is an alphabet, the letters mean something, and have the definition of a few words. Kindergarten stuff.
If we play our cards right, and don't spend all our resources fighting amongst ourselves, the future is incredibly bright. We have worked examples of damn near everything we need... photosynthesis ( solar powered CO2 sequestration and energy storage ) for starters. We have bioluminescence, electric eels, and all sorts of sensor examples.
I figure we have been given a huge shipment of arduinos with all sorts of accessories, and we have now figured out how to make the light blink.
We don't know how its wired yet, how the compiler works, and just now figuring out some of what makes the hardware work.
If our society will value knowledge above greed and accounting, if there is anything limiting our potential, I have yet to see it. However if greed and accounting is all we know, we will soon run into all sorts of limits, imposed only by our inability to adapt. First of these will be exhaustion of the earth's fossil fuels, followed by food and water famines. We will be like the chick that hatched, but failed to scratch, find food, and thrive, living off the energy stored in the egg - until it is depleted.
The earth is our egg.
I value highly the knowledge our species acquires. It is our survival.
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Uh, care to prove that it isn't understandable by human limited brains? To suggest that because we don't understand it today we will never know it is a bit arrogant as well.
The genome is finite, as is the complexity of a human. It can be understood.
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But anyway, all sorts of things are "beyond the capabilities of mere mortal minds". Which is why we specialize into narrow fields, approximate, and generally dink around till we get something useful. Even simp
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More like, "it's not understandable by human limited brains
Speak for yourself, peon.
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Did you know there are about seventy trillion cells in a human body -- and each cell seemingly knows which cell it is?
Yes. Although it's not like they're individually addressable. It's more like every cell knows it's role.
And the body and brain _build_ _themselves_?
Yes.
And when you are wounded, the body _heals itself_?
Yep.
All this from a data set of only a few billion base pairs?
Yes, that's true too. And it's mostly crufty code. (There's also a separate code base for mitochondria)
It is implausible, but apparently not impossible, that DNA/RNA is all there is to ontogeny (growth of the organism).
Oh it's almost certainly true that more than DNA/RNA growing things. That's been known for quite a while. There is genetic information that resides outside of the genetic code [wikipedia.org]. Things like it's structure or those bits that exist in the middle when it's all curled up, those are important even thou
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it is more likely that a "defense contractor" with politicians in its pocket will develop awesome bioweapons that will, in a war started for profit or power, extinquish most or all of mankind. Death will be the limit
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Introns are parts of genes that are excised before the DNA message gets turned into a protein. So these papers don't have much to do with introns. However, as an aside, it's well known that some introns do have biological functions....
Ban Genetic Patents (Score:2)
We need to ban patenting of any of this. Our genetic code is our heritage. Companies, and thus people, should not be able to patent genes or their uses. If they want to be rewarded then they need to implement actual therapy and earn their money from that, without any patenting involved.
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I would have thought genes have a good deal of 'prior art'.
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One would think so but the patent office clerks are giving patents on genes.
The clerks also give out a lot of patents for obvious things. Just about everything is obvious. Dozens of people come up with the same ideas. Ideas are a dime a dozen. It is implementation, production, marketing and sales of the idea that is what has value.
What about Selection? (Score:2)
I'm confused. I thought the non-encoding (junk) DNA was not selected for. That is random mutations were passed on because they evidently did not effect the organism's survival or reproduction. Coding DNA ( genes ) accumulated fewer mutations because mutations adversely effected it or it's offspring's survival.
Now it appears that that non-encoding DNA is important, but seems to be less effected by mutations. Am I missing something?
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Brace yourselves for the amazingly weird genes... (Score:2)
It will eventually become clear what genes encode the proto-concepts in the brain for mother, father, food, water, etc. Not only that but the concept of the Sun, Moon, and stars will likely have been encoded in there as well. Extrapolate from that notion, you can get Jungian archetypes, a whole catalog of fetishes, and most certainly the predilection towards religiosity.
Bene Gesserit meetup this Sunday.
Important, but overhyped (Score:1)
Important, but overhyped (Score:1)
The publication of the ENCODE data is a big deal, make no doubt about it. But it has been overhyped and misreported in the popular press. Interestingly, this is not the fault of science journalists, but rather a consequence of the lead scientists in charge of publicity for this project. UC Berkeley biologist Michael Eisen has a couple [michaeleisen.org] blog posts [michaeleisen.org] addressing this issue, as does University of Guelph biologist T. Ryan Gregory. [evolverzone.com]
Two of the main criticisms directed at
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Not sure if serious
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Gee after decades of Darwinists proclaiming junk DNA to be key evidence of Darwinian evolution,
It still is. Also, the impact of non-encoding DNA has been suspected for over a decade. These papers just kind of hammer it home. Furthermore, there is STILL junk DNA. As in non-encoding, non-selected, no-purpose sections of your DNA that are remnants from long ago. It's dead code, commented out code, or simply gibberish. (There's just less of it than we previously thought)
(before really knowing what those non-coding segments of DNA were for)
There are noncoding segments that appear to be selected for which we still don't understand
I wonder what they'll say now.
We're still right. And all of this still help