Earlier quoted context omitted.
Gene location is extremely consequential, especially in Eukaryotes (everything that's not bacteria or bugs living near hydrothemal vents). A couple of things that are influenced by position: * First, and most immediate, are promoter/suppressor sequences. These are the bits of non-coding DNA that regulate when a gene is turned on or off. If you move a gene away from its promoter, it will not turn on and off at the rig…
I'm going to go against this and say no. We swap gene locations, all the time wholesale in mice, and usually the effect is limited. That doesn't get you a paper, so of course you publish when something... more interesting crops up. It's just that there are many well-studied systems where where there are profound and severe effects that are singly extremely consequential, where you go "huh, wouldn't have guessed that"…
New Causes of Autism Found in Noncoding DNA
61–70 of 132 posts
Re: New Causes of Autism Found in Noncoding DNA
#62How naive or arrogant do scientists have to be to think that we have “junk” DNA that doesn’t affect how we develop? Wouldn’t it be much more useful to classify things we don’t understand as “unknown purpose X” so that more people are inclined to study them? /end venting
The word junk does not appear in this paper. They talk about noncoding regions, noncoding mutations, and noncoding genome. More generally, the term "junk DNA" was coined to refer to a specific type of noncoding DNA. These two articles give the historical background for the term: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014423/ https://judgestarling.tumblr.com/post/64504735261/the-origin...
Agreed, maybe I misspoke but I wasn’t aware of any place I said it did.
“Junk DNA” is a well accepted term by the scientific community and public.
https://www.scientificamerican.com/article/what-is-junk-dna-...
Humorous take on my point: https://www.amazon.com/Junk-DNA-Journey-Through-Matter/dp/02...
I think my main point was missed which is: “labeling something as non useful and leaving it out of the majority of DNA sequencing as a result has made large swathes of the scientific community unaware of how non coding DNA works within the DNA ecosystem”. I think it’s unfortunate that the community doesn’t label this as “exciting area of unknown science” which would encourage investigation.
Re: New Causes of Autism Found in Noncoding DNA
#63Earlier quoted context omitted.
Was this the polite way of saying "older, smart people"? https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4927579/ (Autism As a Disorder of High Intelligence [2016]) > The hypothesis that autism risk in offspring is positively associated with high parental intelligence, and high socioeconomic status, traces to Kanner (1943, p. 248), who stated, referring to autistic children, that “they all come of highly intelligent fam…
I guess what I'd like to know is (and I'm specifically asking you because you seem to be knowledgeable): 1. It sounds like de-novo mutations are the best theory for 70%+ of autism cases per this paper, right? 2. Does anybody track the "base rate" of de-novo mutations / generation in humans? If so, how many generations back do we have data for, and how many regions? 3. Aren't we seeing an increase in autism is develop…
One study says ~38 individual base mutations per generation, but that increases by about 2 bases per year of the father's age, which is still not much given 6 billion base pairs in humans. (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548427/) These studies, however, are missing rearrangements and other spontaneous structural changes which might not modify the genes at all but might change their expression or dosage. We don't have enough data yet about structural mutation rates, the technology to assess that at scale and low cost is only coming online now. Not sure about the incident rate, but since the guidelines for reporting have widened so much in the last decade that might mask any ability to really know.
Re: New Causes of Autism Found in Noncoding DNA
#64With the drastically increased prevalence (which improved or over diagnosis cannot account for) we must look for environmental triggers or factors. Gene changes simply do not happen this quickly. To be clear, I am not dismissing looking for genes, but there are many diseases which are environmental in cause but can be exasperated by a wide variety of genes, i.e. for which we would not attribute the cause to genes/a s…
> which improved or over diagnosis cannot account for It is often cited as exactly the reason, and appears to be the scientific consensus. In fact you can see large swings in diagnosis numbers based on socioeconomic factors[0], which definitely hints at diagnostic bias. > The reported increase is largely attributable to changes in diagnostic practices, referral patterns, availability of services, age at diagnosis, an…
I good way to corroborate this would be to track the "junk dna errors" percentage of newborns and see if there's a statistical trend.
Re: New Causes of Autism Found in Noncoding DNA
#65Re: New Causes of Autism Found in Noncoding DNA
#66I can't believe somebody downvoted this. Some people must really hate anything that challenges their life choices.
Exactly. It costs nothing to lose weight--just eat less. You'd think people would be all over this "natural" and "drug free" treatment. And the number of risks that increase with obese mothers is large. Yet nobody will suggest this because of hurt feelings.
Re: New Causes of Autism Found in Noncoding DNA
#67Earlier quoted context omitted.
Gene location is extremely consequential, especially in Eukaryotes (everything that's not bacteria or bugs living near hydrothemal vents). A couple of things that are influenced by position: * First, and most immediate, are promoter/suppressor sequences. These are the bits of non-coding DNA that regulate when a gene is turned on or off. If you move a gene away from its promoter, it will not turn on and off at the rig…
I'm going to go against this and say no. We swap gene locations, all the time wholesale in mice, and usually the effect is limited. That doesn't get you a paper, so of course you publish when something... more interesting crops up. It's just that there are many well-studied systems where where there are profound and severe effects that are singly extremely consequential, where you go "huh, wouldn't have guessed that"…
I'm going to disagree with go with 'sometimes yes and sometimes no'.
Take a construct and transform it into a plant. Check the expression of the transgene from hundreds of different transformation events, and there'll be huge variation, from highly expressed to silenced, even though all inserted transgenes have the same promoter and terminator. Location matters.
However, if the function of gene A is redundant, or it goes to a location when expression is not affected, or it's just not a very important gene, then it probably doesn't have any great phenotypic effect.
Re: New Causes of Autism Found in Noncoding DNA
#68I can't believe somebody downvoted this. Some people must really hate anything that challenges their life choices.
We call out smokers for their bad behavior that can harm an unborn child. But we're not allowed to say anything about over eaters.
Re: New Causes of Autism Found in Noncoding DNA
#69I can't believe somebody downvoted this. Some people must really hate anything that challenges their life choices.
We call out smokers for their bad behavior that can harm an unborn child. But we're not allowed to say anything about over eaters.
You've posted so many inflammatory things on this topic in the past that I need to remind you to avoid it here.
Re: New Causes of Autism Found in Noncoding DNA
#70I can't believe somebody downvoted this. Some people must really hate anything that challenges their life choices.
Maybe so, but please don't post unsubstantive comments to HN, or break the site guidelines like this.
https://news.ycombinator.com/newsguidelines.html
We detached this subthread from https://news.ycombinator.com/item?id=20036198 and marked it off-topic.