Breakthrough In Human Genetics

Many readers have submitted this story about a breakthrough in our understanding of human DNA: in particular, how much variation can exist between peoples' genes and how genes are involved with certain diseases. "One person's DNA code can be as much as 10 percent different from another's, researchers said on Wednesday in a finding that questions the idea that everyone on Earth is 99.9 percent identical genetically. They said their new version of the human genetic map, or 'book of life,' fills in many missing pages and chapters to explain how genes are involved in common diseases. The Human Genome Project mapped the billions of letters that make up the human genetic code. Scientists later refined the map by looking for single variations called SNPs or single nucleotide polymorphisms. The CNV map gives researchers a different way to look for genes linked to diseases by identifying gains, losses, and alterations in the genome."

Re:Spelling on Slashdot

[gringer]

My guess is that they're referring to human specific variation, i.e. 10% of the DNA that varies within human populations, rather than variation in all DNA.

How does this impact genetic therapies?

[Salvance]

If there is so much variation between humans, how does this impact future genetic therapies? Wouldn't we need to map each person's genome, then study the impact of disease on each of the genes, to understand what gene therapies would work best for an individual? This article seems to suggest that the everyday "We've found the gene that causes " claims are only true for a subset of the population.

makes us even further from chimps! praise Jeebus!

[fleshball]

Actually, using this metric, we would be even further away from chimps.
The old 98% metric (human to chimps) is based on the same old 99.9% metric... both of which were based on drafts lacking these regions.

If you included these repetitive elements, then we become even more genetically distant from chimps.

Decreasing the (human is % chimp) value will greatly please the red state creationists, most of which have a extra chromosome anyway, making them even more genetically distant from chimps by this measure.

Not trying to be mean. Christian fundementists are cute.... clutching thier big gulps to their ample folds, furrowing their brows in a pitiful attempt to understand.

Re:Good Science meet bad math

[Bamafan77]

Looking at the writeup from Nature. They clearly state that these results point to maybe a 0.5% difference among individuals, or 99.5% identical. That's 20X less variation than this crap article would have you believe.

Well, to be fair, the Reuters article states that "One person's DNA code can be as much as 10 percent different from another's", not IS 10% different. That seems to cast the statement in the light of "theorhetical upper limit", rather than "absolute truth".

Re:Actually

[nacturation]

So how is parent Offtopic?

Because it's a creationist site whose tagline is "Upholding the authority of the bible from the very first verse." While the source generally shouldn't be taken into consideration when considering the argument, in this case it's similar to asking the KKK for informed research on black people.
 

Re:Actually

[timeOday]

So 95%, 98.6%, or 99.8% - all are correct answers in the correct context.

...and all irrelevant anyways, as to the issue of how different the phenotypes of chimps and humans are. Heck, the human brain is 70% water, does that mean the head is "pretty much" like a 1/3 empty coffee pot? With changes to far less than 0.2% of his DNA, Einstein could have gone from genius to a miscarriage that his mother never even noticed. It's great for medical experimentation that chimps are so similar to people, but gene sequencing doesn't suddenly make us any more or less similar than we were before.

Re:God vs Man

[Anonymous Coward]

hate is not funny.

Nope, but truth is. And the GP was definitely more truthful than hateful.

Don't like it? Don't let anti-science luddites speak for your religion. It really is that simple.

Re:Actually

[mrRay720]

Very true.

Whenever I hear people talk about how we're "99% like a chimp", "45% like a fern", "76% like a catfish", etc. I just point out that we are not DNA. DNA is just the intruction manual on how to make us.

A more accurate analogy would be that the user manuals for a chimp and a human are 99% similar. Considering that the first 950,000 of 1,000,000 pages are about basic body structure, chemicals, etc, that's hardly surprising.

Re:Natural Selection no longer applies to humans

[kripkenstein]

Humans have escaped the phenomenon of Natural Selection, for the most part.
All of us who wear glasses? We should have been culled. [etc.]

I disagree. Yes, the simple "the organism dies because of some trait, so there are less offspring with that trait in the next generation" is somewhat true today, as you say. But natural selection extends to much more than that.

For starters, sexual selection. Nowadays people have LOTS of choice in selecting a partner; it is very common to have many partners and even children with multiple partners. In addition, the number of children that people have is very variable - more and more elect to have none, while some people have quite a lot. All of this allows a few 'sexually preferred' individuals to contribute to the next generation's gene pool in a significant way, first in that certain individuals have more opportunity to have children - say, because of attractiveness - and second, that the number of kids is a personal choice that varies greatly.

Now, you talk about wearing glasses, diabetes, etc. - these are 'objective' issues that should be selected against, supposedly: "in the wild, such people would never survive". But the fact that we live in a different environment doesn't mean that OTHER selection pressures, perhaps just as strong, don't exist. They are just different.

Re:Natural Selection no longer applies to humans

[Burnhard]

Humans have escaped the phenomenon of Natural Selection, for the most part. All of us who wear glasses? We should have been culled. All these people developing diabetes from eating too much sugar? Selected against. Asthma? You get the picture. Running with the idea that there is a higher power that created the world, I would say that Natural Selection is the method that higher power uses to figure out what works. But now with health care and a strong sense of altruism, errors in the genetic code are propagating throughout our species and wrecking havoc. In other words, we're playing god by saving lives that should have been selected against and allowing them to pass on their flawed genes.

Sorry if my first post here is highly naïve, but you are making the assumption that caring for the sick or less fortunate is not itself a trait that has been selected for in previous generations. You mention a strong sense of altruism. This trait remains in the population because it is selected for, especially as Human (and primate) populations survive as groups, not as individuals.

Re:Natural Selection no longer applies to humans

[Jekler]

Humans have escaped the phenomenon of Natural Selection, for the most part. All of us who wear glasses? We should have been culled. All these people developing diabetes from eating too much sugar? Selected against. Asthma? You get the picture.

Your assertion presupposes that those genetic traits are actually inferior and not suitable for continued survival, which is unknowable until evolution has a chance to ferret them out. Poor eyesight could very well be an evolutionary advantage. Many predators have notoriously poor eyesight (for example monitor lizards and cats), but can hear/smell/taste far better which makes them great hunters and excellent candidates for evolutionary survival.

Diabetes? Type 2 diabetes can often go untreated (medically) managed solely by exercise and diet. The abundance of society's processed foods which contain obscene amounts of sugar is the biggest enemy of type 2. So you have a genetic class of people that need to exercise more and eat healthier.

I'm not saying that every disease is actually an advantage, but it's presumptuous of us to believe, from our limited temporal footprint in the history of evolution, that we can tell the difference between an evolutionary advantage and a weakness that should be culled. It frequently takes many thousands of years for natural selection to determine a victor in terms of evolution, and often times species we would consider inferior have prevailed over seemingly superior creatures.

At this point in time, things we might consciously decide to cull from the gene pool with genetic modification may actually be against our own interests. One person says "We fixed his eyes", another person says "But you broke his ears".

Re:Natural Selection no longer applies to humans

[Almost-Retired]

And now your kid is born with a gene that means they're 80% likely to die from some horrible disease by the age of 30. If I were that kid, I would be pissed at my parents for not choosing the screening option.

Sorry, I can't agree with that last statement, having been a step-parent to 2 of "Jerry's" kids for 17 years. Regardless of the physical problems and the fact that one has already died at age 34 of MMD, they were, and are glad to be alive. So don't try to put words in a hypothetical childs mouth, thats not what comes out when they make their wishes known.

--
Cheers, Gene

Race and genetics cont.

[Dobeln]

"The only strange thing I see in your post is that people of mixed ancestors aren't cited. So I guess in your world people don't mix at all and can be precisely determined what they are."

No, but it can be determined very accurately if people have recent (broadly speaking) ancestry in a particular part of the world.

"Do you live in Nazi Germany, 1940?"

Ah, the Hitler thing. How original.

"If they do mix, how "the research" identifies them?"

Using non-binary designations, probably. It's like colors - there is no discrete line where one color becomes another, yet people rarely go around proclaiming that "colors do not exist". Racial designations is a matter of utility and economy of information.

When it comes to "tagging" however, the old racial classificiations remain remarkably efficient - I.e. if you compare how people self-identify with their genetic makeup, a computer will usually sort them into their own self-classified category with a high degree of precision. Certain fashionable ethnic identifiers are far less effective than racial ones, however, I.e. "hispanic".

"My guess is that a lot of people in here or in science have a bias towards a racially segregated society, where people don't mix, just like the US and european countries."

Ah yes, scientists are all racists - that must be it. Interestingly, this kind of exchange is rather typical, I.e:

Scientists: "We have lots of new cool genetic data!"

Lewontinites: "Hitler! Racism! Hitler! Racism!"

etc. etc.

Re:Natural Selection no longer applies to humans

[Anonymous Brave Guy]

All of us who wear glasses? We should have been culled. All these people developing diabetes from eating too much sugar? Selected against. Asthma? You get the picture.

Sure I do, but your picture is a very narrow view of the idea of natural selection.

Consider that humans are the dominant species on the planet today for essentially two reasons: we form communities, and we develop tools to overcome our weaknesses. Neither of these has anything in particular to do with any individual's physical strengths or weaknesses.

Continuing this argument, there is no particular reason that a physically imperfect individual can't make a more significant contribution to a community or develop better tools than a physically superior specimen. Would you say someone with an unfortunate genetic flaw that prevents them having children is worthless in terms of the survival of the species? What if that person spent half their life developing the device that would save humanity from the next global-killing natural disaster, and the rest of their life co-ordinating its manufacture and training people to use it?

And of course, this is only talking about the survival of the species. What the species could achieve in terms of science, or art, or any other development you consider important is a whole separate subject.

Re:Race and genetics cont.

[Anonymous Coward]

No, but it can be determined very accurately if people have recent (broadly speaking) ancestry in a particular part of the world.

That means absolutely nothing. How much recent is? What research have determined that? What determines when a person is from one "race" or another if they have many ancestors of many races? What determines when one starts and the other ends?

Without precise definitions and evidence backing it all, this "idea" is nothing more than wishful-thinking. That's the conclusion that any rational person will get to. Theories are just theories, they get replaced or improved with time, with evidence we can have some degree of sure that something is not completely wrong.

But without evidence, what do we have? Nothing.

"If they do mix, how "the research" identifies them?"

Using non-binary designations, probably. It's like colors - there is no discrete line where one color becomes another, yet people rarely go around proclaiming that "colors do not exist". Racial designations is a matter of utility and economy of information.

Do you anything about the world? Do you think this race centric view like in the US is the predominant everywhere? Do you think "black" in the US is the same as "black" in Africa or anywhere else?

There are two basic flaws in this thinking:

- Mixed peoples are ignored, or labeled as something generic;
- It assumes the mentality of americans is the same of people all around the world.

if you compare how people self-identify with their genetic makeup, a computer will usually sort them into their own self-classified category with a high degree of precision.

What? If they self-identify didn't they provide the data previously? How sorting records would be difficult to a computer!?

If the didn't provided, then you are ONCE AGAIN assuming that the US thinking is the same as everywhere else. I am sure that a "Venezuelan" would be offended if called "Colombian", or a "Korean" to be called "Japanese", and there are differences between them all that the average american wouldn't be able to tell.

Certain fashionable ethnic identifiers are far less effective than racial ones, however, I.e. "hispanic".

Nonsense. Hispanic is a marketing definition created in the US for americans, used to select meals by the number, to be able to deal with the latin american diversity. It's not used anywhere else!

The only people that self-identify as Hispanics are mexicans living in the US.

Ah yes, scientists are all racists - that must be it. Interestingly, this kind of exchange is rather typical

Maybe not purposefully, but people aren't computers and are susceptible to preconceived ideas, especially the ones they grew with. It's not surprising to me that incomplete or misinterpreted data can be quickly used to "prove" some US race-like view of the world.

But that it's not bad in itself. The bad is clueless people to think that everyone around the world thinks the same, or should think the same.

Unnatural Selection

[Comboman]

Perhaps I should leave you with an example, one that even a Christian might be able to tolerate. Imagine a future where you and your s/o collect your eggs and screen them for genetic defects, like Down Syndrome. Once a viable egg has been found (and you don't have to look up what the hair color or eye color will be, you could just leave that to fate), start screening some sperm. Produce a viable fetus which will grow up to be healthy.

Now imagine that you were one of those people who didn't do that for your kid. And now your kid is born with a gene that means they're 80% likely to die from some horrible disease by the age of 30. If I were that kid, I would be pissed at my parents for not choosing the screening option.

So in your perfect world, Stephen Hawking (ALS), Issac Newton (Epilepsy) and Albert Einstien (Aspergers Syndrome) would never be born? Do you believe genetically "flawed" individuals have nothing to contribute to society?

comparing apples with pears

[picob]

100% of these comparative studies are highly speculative. Take into account: 10% of the DNA codes for proteins (this DNA was sequenced in HUGO on which most comparative studies were based) 90% was named junk-DNA, but isn't really. It is now recognized that it is functional in the sense that it regulates the expression of other genes. This DNA can differ a lot more among individuals and species. The functions of 'junk'-DNA are only partially known, but it is clear that in addition to some proteins (expressed by the 10% DNA) 'junk' DNA is responsible for differences among cell types. Every cell expresses it's own subset of genes (produces it's own set of proteins, has it's own function). Since we barely know which cell expresses what genes, how can we even try to compare among species? It is the same as stating galaxy X is 90% the same as galaxy Y. What do these comparative studies want to prove anyway? If 90% of the bibles have the same content, tell me about religious people.

Re:Natural Selection no longer applies to humans

[Ithika]

You're missing the point. He's not saying that the species is worse off for having physically flawed individuals. He's simply pointing out that the human race is no longer improving through natural selection.

The human race - and this goes for all other species - was never "improving" since evolution is not a directed process. It merely changes. Take your teleological reasoning and wheesht.

As a specimen, ignoring our education and technology, are the humans of today any better off than we were ten thousand years ago? Almost certainly not. Survival of the species has shifted from genetic legacies to a technological legacy, which is not part of the definition of natural selection.

The definition of natural selection asks nothing of our physical fitness or ability to live to the age of 93 without suffering cancer or dementia. It is purely about passing on genetic material to the next generation. If a mutation arose which conferred almost certain death on a person past the age of 25 but at the same time upped that person's sex drive and ability to procreate beyond normal human capacity, that person's genes would be selected for. Even though by their mid 20s they would be suffering from a fine selection of cancers, diabetes, epilepsy and anything else you can think of.

Natural selection is not a directed process. Evolution is not a ladder.