Human Genome Sequencing Completed 337
Arthur Dent '99 writes "According to this article at Reuters, the last chromosome in the human genome has finally been sequenced, taking 150 British and American scientists 10 years to complete. The sequenced chromosome, Chromosome 1, is the largest chromosome, with nearly twice as many genes as the average chromosome, making up eight percent of the human genetic code. The Human Genome Project has published the sequence online in the journal Nature, according to the article. It contains 3,141 genes (over 1,000 of them newly discovered), and 4,500 new SNPs -- single nucleotide polymorphisms -- which are the variations in human DNA that make people unique."
First Chromosome (Score:5, Interesting)
Re:First Chromosome (Score:5, Funny)
Re:First Chromosome (Score:5, Funny)
Re:First Chromosome (Score:2)
Re:Stupid Question (Score:2, Informative)
The beginning is very likely a non-coding region, since stuff near the ends can get damaged more readily. The chromosome itself probably does not exactly start with GAT, it probably has a few thousand bases worth of telomere, and this just happens the be the chunk that starts once they get past all that.
Everybody has different genes, but the difference between two indviduals over the total range is measured in decimal-points of a percent. Big chunks of it are exactly the same from person to pe
Re:Stupid Question (Score:3, Informative)
One point is that there's very little variation between individuals in terms of coding sequence - in this chromosome from the article there's only just over 1 base where there are known single base changes per gene. The most common type of variation is in the number of times repeated streaches of DNA are repeated, this generally (though not always) has no effect on an individual. The numbers of such repeats in the draft sequence are not meaningful in the published sequence.
Databases of variation in the h [cgb.ki.se]
Re:First Chromosome (Score:3, Informative)
"Each draft sequence has been checked at least four to five times to increase 'depth of coverage' or accuracy. About 47% of the draft were high-quality sequences. The final version will have been checked eight to nine times giving an error rate of 1 in 10,000 bases."
Which means that there will be an estimated 300,000 errors in the project.
So now. (Score:3, Funny)
Re:So now. (Score:3)
Secret Project Complete (Score:5, Funny)
MOD PARENT UP! (Score:2)
Re:Secret Project Complete (Score:2)
Would've been decoded sooner ... (Score:5, Funny)
Re:Would've been decoded sooner ... (Score:4, Funny)
I'd like fries with that (Score:5, Funny)
Re:I'd like fries with that (Score:5, Insightful)
So, what if it was a choice between good vision and very high intelligence? How about between good vision or very low risk of cancer/heart disease?
Bad vision is correctable. If there is a trade off to make, good vision would be something that wouldn't be too hard to trade for something better.
Re:I'd like fries with that (Score:2)
Re:I'd like fries with that (Score:2)
Re:I'd like fries with that (Score:5, Interesting)
20/20 isn't "perfect," BTW. Human vision is very good compared to that of most animals, but it's laughably bad compared to that of, e.g., birds of prey. I guarantee you an eagle can see better than you can whether it's spotting a rabbit from a few hundred feet in the air, or staring that same rabbit in the face right before dinnertime.
Re:I'd like fries with that (Score:2)
There's studies being done using adaptive optics to enhance human vision to far beyond even 20/10 accuracy. Here's a google search [google.ca] to get people started.
Re:I'd like fries with that (Score:3, Funny)
Re:I'd like fries with that (Score:3, Funny)
Dogs actually have a higher FPS perception than we have. OTOH, they've been known to eat their own poop. There's an efficiency/complexity tradeoff in neural computation systems.
Re:I'd like fries with that (Score:4, Interesting)
Which is more of a typical example of Science challenging our preconceptions than actual "oddity".
To make an analogy, if you came across a switchboard with 100 light bulbs and 100 switches, you'd probably assume each switch turned on a light. Then you'd be confused to discover that some switches turned on two lights, some lights needed several switches to be on, and some switches did nothing at all.
Of course, if you looked under the hood and saw how the thing was wired, you'd then find that there wasn't actually anything strange going on, just that your assumption of how the thing worked was oversimplified.
I think this oversimplification is one of the reasons some people have trouble understanding evolution. It's a bit hard to understand how things like heireditary genetic diseases could exist if you assume that it's a completely independent property (and indeed, most of them probably wouldn't exist if it was).
Another fun example of non-obvious traits in humans is that a single SNP (prevalent in East Asians) causes you to sweat less, but also causes you to have dry and crumbly earwax instead of the gooey, sticky stuff most people have.
Re:I'd like fries with that (Score:3, Informative)
That doesn't mean that the traits will always stay linked. They probably res
Re:I'd like fries with that (Score:2)
Re:I'd like fries with that (Score:2)
I keep forgetting just HOW MUCH STUFF Wikipedia has. They are quickly approaching Tower of Babble / Library of Alexandria status in many ways (at least in English).
I'd Like A Blonde With That (Score:2)
Because we can inexpensively correct vision, I'd say if this coupling existed, we would already be naturally selecting toward bad vision. More people will die from cancer/heart disease than from glasses. Pretty sure about that. Since we haven't turned into mole people, I think the two are probably pretty independent though.
But I am still wondering about t
The genome trading card game (Score:3, Insightful)
Sometimes, I'd give intelligence for booze. Life'd be a lot easier and less painful.
Re:20/10 is better than perfect!!! (Score:5, Informative)
20/20 vision means that when you stand away from something at 20ft, what you see is what the normal person would see at 20ft.
20/40 is, well, if you stand 20ft away, you see what a normal person would see at 40ft
Same goes for 20/10.
Re:20/10 is better than perfect!!! (Score:2)
A simple question (Score:3, Interesting)
Re:A simple question (Score:3, Informative)
Re:A simple question (Score:2)
luckily, this [slashdot.org] amazing breakthrough will help you store chr19 in less space.
Re:A simple question (Score:5, Insightful)
don't confuse (Score:2)
It seems to me that there are definitely some "rules" for evolution, although our understanding of them and how they work is very very limited -- for now. I mean, we don't see trees evolving into dogs and vice versa. So clearly there are some constraints on what can and can not be done within evolution.
But it's a hard thing to study because we've only bee
Re:don't confuse (Score:2)
Re:A simple question (Score:5, Informative)
Same reason some source code files contain more lines of code than others. They do different things.
Re:A simple question (Score:2)
Re:A simple question (Score:2)
Another way to put it is that there has obviously not been enough of a disadvantage to have varying chromosome sizes, alternatively some slight advantage in maintaining something similar to the current layout. (Of course, significant ch
Re:A simple question (Score:3, Insightful)
I also consider that one of the chromosomes could maintain (as a unit) the code for some very complex interaction that can't be further broken down. Maybe something to control the expression of genes, p2p communication (to correlate production of proteins, etc.), or even the definition of types for cell differentiation. Or a kind of file full of unique keys to keep the immune system from attacking the body's own cells (errors in which might result in allergies). Consider the size of concurrency control a
Because it evolved (Score:5, Interesting)
Why not? It's because it wasn't designed by a computer geek (or anyone/thing else) where you might have said, hrmmm, we need about 30,000 genes for this design, so we'll split that into 26 chromosomes of 1,154 genes apiece. That should do it!
The fact is, we evolved, and so our components are just bits and pieces taken from all our previous ancestors, modified according to whatever was needed to suit the environment we happened to find ourselves in at the time. As with all natural, biological, dynamic processes, what emerges is often bizarrely disorganised, yet somehow works.
Re:Because it evolved (Score:2)
Actually if it was designed by a computer geek, no doubt there would be 32,768 total genes and 32 chromosomes, with 1,024 genes per chromosome.
Comment removed (Score:5, Funny)
Re:Because it evolved (Score:3, Funny)
Re:Because it evolved (Score:5, Funny)
However, because of technological limitations, only the bottom 4 bits of the gene index would actually be used, with the next 4 bits being set to zero by default, and the remaining 24 bits determining your average skin color.
Additionally, the 32 bit chromesome index would use 8 bits starting at the MSB, the next 8 bits would be reserved and set to zero, and the remaining 16 bits would be undefined, though later we'd find variations there gave rise to both creationist tendencies and division by zero, leading us towards a new design that is only 16 bits, but ran twice as fast and never divided by zero, or made up answers to questions without having known good data on the input side.
All other features would be put off for the beta version, because we'd have a little trouble with the alpha we didn't exactly anticipate.
Unfortunately, all advances gained by this leap in technology would be lost when hardware manufacturers forced new "quantum confusion" technology upon the geeks in a selfish race for more market share. Geeks fail to notice because they're too busy trying to get Genes 0.1 alpha through ANSI committee approval.
For maximum efficiency, this awesomely fast new technology requires light pipes for communications, however, in a legislative feat worthy of Maltheus himself, congress declares that production of light pipes within the boundaries of any state for use within the boundaries of that state represent interstate commerce of light paraphanalia, and so no one's going to be doing that, thank you. It's all part of the War on Bits. InSmell, primary manufacturer of light pipes in the USA, shuts all production down, fires half its workforce, and its stock goes up by a factor of four.
At this point, the only light-pipe architecture you can find comes from Japan, and the upper 24 bits of the gene index are all hard-coded to DDDDBB. It is expensive, but everyone buys it anyway. You can only run this hardware in Denmark. Floating (actually, more like drifting) point is emphasized, and virtual reality is experienced by all users, though that is not to say that it is the same virtual reality across the board.
In the meantime, US geeks invent open-source web 9.0, expend all their energy producing applications for it that have absolutely no merit whatsoever of any kind using the justly famous "Corundum on Wagon Ruts" technology to replace perfectly good desktop apps that already exist, but are really really cool because they can make almost any browser's "Joe" scripting language use all the memory in your computer... subsequently, geeks quietly go extinct while arguing if GPL or PD is the way to go for the open source path.
That's not a simple question (Score:3, Insightful)
So, if you really want to know, the answer is...
because.
Re:A simple question (Score:3, Informative)
In a slow elderly Eastern European accent.... (Score:5, Interesting)
-- Academician Prokhor Zakharov,
"Address to the Faculty"
Re:In a slow elderly Eastern European accent.... (Score:3, Interesting)
Complete list of quotes here [generationterrorists.com], although for full effect you really need to hear some of them. The voice acting on Alpha Centauri is amon
Oblig. (Score:5, Funny)
Remember kids... (Score:4, Insightful)
Part of the sequence: (Score:5, Funny)
Re:Part of the sequence: (Score:2, Funny)
You have posted parts of our patented human genome sequence without our prior authorization. We demand that you cease and decist this post and remove it immediatelty, or you will be hearing from our lawyers in short order.
Sincerely,
Genectics Mega Corp.
Re:Part of the sequence: (Score:5, Funny)
SNPs (Score:5, Informative)
"The scientists also identified 4,500 new SNPs -- single nucleotide polymorphisms -- which are the variations in human DNA that make people unique."
There are other variations which make us unique.
Alternate alleles*
Indels (insertions/deletions)
Variable numbers of repeats.*
The genetic code uses 4 letters, but I'll use English for explaination.
A SNP is a single letter which has different values in different individuals: "The cat and the dog" vs "the hat and the dog".
An indel is where letters have been inserted into one sequence or deleted from another (without additional data, we can't distinguish these possibilities.)
"The cat and the dog" vs "the cat and the big dog".
In alternate alleles there are a bunch of changes which always stick together, e.g. we observe "the cat and the big dog" and "the cat and the small mouse", but never (or exceedingly rarely) "the cat and the big mouse" or "the cat and the small dog."
Variable repeats are a special case of indels, but common enough to warrant a category of their own. "The cat and and and the dog" vs "the cat and and and and and the dog".
Re:SNPs (Score:2)
Re:SNPs (Score:2)
Re:SNPs (Score:2)
Interesting post. I noticed that the "Variable numbers of repeats" looks a lot like microsatellite instability (MSI), where extra copies of short sequences get inserted. Like ATATAT becomes ATATATAT. I'm not entirely up-to-date on what happens as a result, but certainly the encoded protein may lose or alter its function. This type of genetic instability is characteristic of certain types of cancer, like certain colorectal cancers, particularly when a mutation knocks out a crucial repair pathway gene.
Do
Finally! (Score:2, Insightful)
3,141 genes (Score:2, Funny)
Re:3,141 genes (Score:5, Informative)
pi * 1750 genes. Got to love those fun coincidences
Not so exciting now, is it? Nature is not decimal-based. The only reason we tend to be is because of the number of fingers we have.
Re:3,141 genes (Score:3, Insightful)
Re:3,141 genes (Score:5, Interesting)
10 certainly is important to us, having 10 fingers and 10 toes. Unless you're carpenter.
Asking a bee, you'd prolly be called crazy and 6 is the perfect number, from legs to comb.
A spider would probably tell you 8 is more important, from legs to their web's segments.
But since this genome has meaning for us, I'd wager that our "magic" applies.
Re:3,141 genes (Score:3, Funny)
Re:3,141 genes (Score:2)
Re:3,141 genes (Score:2, Funny)
One serious thing left to do (Score:2)
Joey stole mine when I was 12. He rocked.
Re:One serious thing left to do (Score:3, Informative)
http://en.wikipedia.org/wiki/Serpentor [wikipedia.org]
protein modelling (Score:3, Insightful)
The AGCT's code for proteins and so far we can only model very short combinations. All you coders keen for a life project have a crack at it. Theres 20 amino acids formed from combinations of three base pairs. The amino acids have attraction and repulsion properties with each other and their environment and form to make a unique shape. Its the analysis of that 3D shape that will solve:
- all cancer - modelling protein shapes means instant cancer cures
- bird flu - again modelling proteins means instant antibodies to diseases
- the most toxic substance ever invented - it will also open up designer drugs
Re:protein modelling (Score:2)
Better yet download the client and throw some spare CPU cycles into the mix.
Re:protein modelling (Score:2)
You do know it's not primarily a programming issue?
Its the analysis of that 3D shape that will solve:
- all cancer - modelling protein shapes means instant cancer cures
Nonsense. Knowing the shape of a protein does not cure cancer in itself. You do know that the structures of thousands of proteins, hundreds of which are cancer related, are already known?
bird flu - again modelling proteins means instant antibodies to diseases
No, knowing the structure o
Re:protein modelling (Score:3, Informative)
First of all, you can't at the moment crack the protein folding problem by throwing more computational power at it. We still lack lots on insight into many of the fundamental forces governing protein folding. Electrostatics at that level are a nasty thing, for example. The scale of the system would require a quantum mechanical treatment, but then again the
and then there was a two...! (Score:4, Funny)
hmmm i guess its not as funny unless its binary
How do they know it's a "gene"? (Score:3, Funny)
I undestand that even if they don't know what a gene is doing, they can single it out from the rest of the dna. How do they do that?
What makes a gene a gene?
Re:How do they know it's a "gene"? (Score:2)
Well all genes start with the sequence "ATG" and end with a stop sequence eg. "TGA" (there are several). See http://en.wikipedia.org/wiki/Codon [wikipedia.org]
There are a lot of exceptions to all of this, eg. stop codons, RNAs, psuedo genes ect.. But it is generally true from a computational point of view.
Re:How do they know it's a "gene"? (Score:2, Informative)
Re:How do they know it's a "gene"? (Score:3, Informative)
In addition, we have other effects. For example, there is a varying stability between GC and AT pairs, which gives a tendency to a biased ratio in "junk". Th
Re:Genes make proteins. (Score:2, Insightful)
I'll bet this will make really great... (Score:2)
A dozen sets would be signifigant (Score:2, Insightful)
You always go with a base
Re:A dozen sets would be signifigant (Score:2)
The current data i
Yay! This means... (Score:2)
Just... 30 years too late.
Great But... (Score:2)
Re:Great But... (Score:2)
Once you get beyond a certain point of "complete", there is no real boundary from where you can claim to be more complete than before.
Re:Great But... (Score:3, Informative)
Slow (Score:2, Funny)
All I have to do is open my mouth once & any female can sequence my genes instantly.
Their accuracy is amazing, I always get the same conclusion, "You're an asshole !".
3,141 genes? (Score:3, Interesting)
Re:3,141 genes? (Score:3, Funny)
And the distance from the base of the Great Pyramid is exactly twice the distance times 3/23 - the number of pounds in a dozen African Eliphants minus the sum of them...
Finished my ass (Score:4, Interesting)
Human genome is not finished (Score:4, Informative)
This is by my count the fourth time that the human genome has been announced "finished" - anymore times and they will all be invited to become slashdot editors.
Re:Ah yes... (Score:2)
Re:Ah yes... (Score:3, Interesting)
Re:Ah yes... (Score:2)
Just who I was looking for!
I've been hearing about genome sequencing for years now, and looked it up on Wikipedia and Google, but for the life of me I can't find out what it actually is, or what it tells you. I know it doesn't tell you what each gene does, although the first time I heard about it, before I thought about it I thought that might be it. Obviously, for any given species the majority of genes are going to be the same. Is sequencing finding out which ones have to be the sa
Re:Ah yes... (Score:3, Informative)
Re:Ah yes... (Score:3, Informative)
When we say that "the gene for xxxx is located at yyyy
This means that we *do* know where the particular controlling sequence is located?
Viral gene therapy is a process that can locate the target gene somehow and replace the sequence there with a new sequence?
Does the sequence have to be broken, segmented, and re-built for viral gene therapy? Or is there a "merge" type of operation that "overlays" the new information?
I have read a great deal that in a han
Re:Ah yes... (Score:2)
You are right though, genes only create the starting point and set the absolute limits, environment and life experience paint the rest of the picture.
Re:Have they found the gene (Score:2)
Re:Have they found the gene (Score:2)
It's pretty freaking obvious that there are genetic differences between races. That means there is quite a distinct possiblity that the expression of these differences is going to create affinities for certain activities within various races. Saying "some races are better than others at certain things" isn't racism - it's saying what anyone whose watched the Olympics can tell you. Of course, that doesn't necessarily
Re:Have they found the gene (Score:2)
Re:Have they found the gene (Score:3, Insightful)
You do realize that breeding like to like is genetic manipulation? That what you are essentially doing is reinforcing genes that express the desirous trait and eliminating genes that don't? Physical ability may have been bred in to certain people, as you suggest, and it may recede over time, but it's still a g