The Nobel Prize-winning scientist who helped discover the molecular structure of DNA has become the first person to receive his own personal genome map.
The map, a breakdown of his DNA that shows illnesses he is predisposed to contracting, is the first step in making the sequencing of individual human genomes quick, affordable and a routine part of medical care, according to researchers.
"I knew I was risking possible anxiety when I saw it," said 79-year-old James Watson, who was presented the map during a ceremony at Baylor College of Medicine. "But it's much more that if I don't sleep at night it's due to thinking about Iraq rather than about my genome."
Watson was chosen for the project because of his contributions to the field, and the map was completed after he submitted a blood sample.
A review showed he has some variances that could induce cancer — which appeared to mirror his actual health. Watson said that he has had skin cancer and that his sister had breast cancer.
The $1 million, two-month project was a collaboration between 454 Life Sciences Corp., a Connecticut company that specializes in DNA sequencing, and Baylor College of Medicine's Human Genome Sequencing Center. At the moment, there are no plans to complete more maps in the immediate future, though researchers want to eventually map more people.
Jonathan Rothberg, founder and former chairman of 454 Life Sciences, said the price of mapping someone's genome sequence could eventually drop to $1,000, making it easy for people to incorporate it into their medical care.
(continued online...)
WOW! How soon after this before someone like Chandra figures out that these Genes here mean someone has special abilities?
Posted: Fri Jun 01, 2007 10:41 pm Post subject: Re: Our "Heroes" future is closer than you think..
Hercules67 wrote:
WOW! How soon after this before someone like Chandra figures out that these Genes here mean someone has special abilities?
If we were to suppose that "special abilities" are real and are linked to genes, it could take decades to figure out what they're all for.
Firstly, there's a lot of uncharted territory. There are about 3 billion base pairs. Genes are multiple base pairs that encode something particular, and the number of base pairs varies. Some genes are known because they were researched as part of a problem that was being studied, like for cancer, cystic fibrosis, etc. Even if that accounts for 10,000 base pairs, it's still about 0.003% of all base pairs.
Also, you need to be able to compare people who have the trait to people who don't in order to find the gene that controls it. In particular, "special abilities" tend not to display well in a controlled laboratory environment, so finding those individuals might be difficult.
Finally, control of many traits is more complicated than dominant/recessive. I was just reading about autism, and geneticists have found that some people with autism have a flaw in one of the genes that controls a metabolic pathway. Apparently the disorder is driven by something(s) else in other people. I met a genetic counselor - by chance - this winter, who told me that not all genes are expressed. That is, the DNA encodes the trait, but somehow it was never made into reality - all that RNA transcriptase stuff somehow didn't happen. I've read that one of a pair of chromosomes can become dormant, and the genes on the other are expressed. (I'm not completely convinced on this, as that would pretty much chuck all the dominant/recessive stuff out the window, so maybe it's unusual. It was the explanation given for tortoiseshell cats always being female.) I've read that genes can be expressed through RNA, and then you could see different traits than are encoded in the DNA. And I've read about genes interacting - they can turn each other on and off. There are a few places on the Y chromosome that turn large sections on and off during fetal development. So figuring out all the subtleties of how a special ability works would be slow.
Wow, payquage getting all technical and wordy on us.
There's always a chance that the people they choose to study could have no special ability at all though, which could very well mean they went on a wild goose chase for nothing.
Indeed. Chandra Suresh had case studies to compare. He didn't lok at the genes and say "These people have powers", he looked at the powers and said "These people have certain genes". It's a milestone in genetic research, to be sure, but it won't help you find people with strange abilities until you find people with strange abilities first.
Posted: Sun Jun 03, 2007 1:24 am Post subject: Re: Our "Heroes" future is closer than you think..
Payquage wrote:
Hercules67 wrote:
WOW! How soon after this before someone like Chandra figures out that these Genes here mean someone has special abilities?
If we were to suppose that "special abilities" are real and are linked to genes, it could take decades to figure out what they're all for.
Firstly, there's a lot of uncharted territory. There are about 3 billion base pairs. Genes are multiple base pairs that encode something particular, and the number of base pairs varies. Some genes are known because they were researched as part of a problem that was being studied, like for cancer, cystic fibrosis, etc. Even if that accounts for 10,000 base pairs, it's still about 0.003% of all base pairs.
Also, you need to be able to compare people who have the trait to people who don't in order to find the gene that controls it. In particular, "special abilities" tend not to display well in a controlled laboratory environment, so finding those individuals might be difficult.
Finally, control of many traits is more complicated than dominant/recessive. I was just reading about autism, and geneticists have found that some people with autism have a flaw in one of the genes that controls a metabolic pathway. Apparently the disorder is driven by something(s) else in other people. I met a genetic counselor - by chance - this winter, who told me that not all genes are expressed. That is, the DNA encodes the trait, but somehow it was never made into reality - all that RNA transcriptase stuff somehow didn't happen. I've read that one of a pair of chromosomes can become dormant, and the genes on the other are expressed. (I'm not completely convinced on this, as that would pretty much chuck all the dominant/recessive stuff out the window, so maybe it's unusual. It was the explanation given for tortoiseshell cats always being female.) I've read that genes can be expressed through RNA, and then you could see different traits than are encoded in the DNA. And I've read about genes interacting - they can turn each other on and off. There are a few places on the Y chromosome that turn large sections on and off during fetal development. So figuring out all the subtleties of how a special ability works would be slow.
You're very right, Payquage. And to add to the complexity, a lot of those base pairs are what biologists currently refer to as "junk" DNA.
It's not really "junk" per se, but it's referred that way in part because a purpose hasn't been assigned to them.
Many scientists are of the thought that these junk sections were at one point active and through evolution and variation of species have become deactivated (and could possibly serve as fuel in future evolutions of species).
So sorting through, cutting out and/or figuring out the functions of the junk DNA would also delay any progress.
And btw, Payquage, genes aren't exactly expressed by RNA itself, they're expressed by the proteins that the RNA segments code for. Just a little clarification. Close, but not the whole story.
And you're also right about the Y chromosome. It's what determines if you're male or female. Someone without a Y chromosome always develops into a female (unless they have an androgen sensitivity issue....that's endocrinology and I won't bore you with that, lol). Some people can have multiple X chromosomes, but if a Y is thrown in, and no other endocrinological issues are involved, they will develop as a male. So the Y essentially activates the expression of "male" genes while suppressing the development of female characteristics.
And tortoiseshell cats are always female because the fur pattern is expressed only when a Barr body is present. When a animal has 2 X chromosomes, one condenses into what's called a Barr body, to avoid the overexpression of the genes, which can be fatal. I don't remember the specifics, because I learned this several years ago, but I do remember that's the general idea.
I'm not going to get started on how genes are actually expressed, but you've got the general idea. It is most certainly not just about dominance and recessivity (ooh with the big words again! lol) [/end biology rant]
Ok, so how about the basic premise? For example, What if they prove someone has telepathy?
If they analyze his/her DNA, could they then prove what in the DNA makes the telepathy possible?
And, if they unlock that door, can they then figure out what other "powers" may be out there?
OR is that basic premise false?
I wonder if the so called "inactive" or "junk" base pairs are actually the ones that could give us abilities...?! That would be a twist!
Basically, if you were to remove all complications that we've mentioned before, I don't see why not. It'd be a process of elimination. Like, "yeah we know what all of this codes for, so maybe this codes it."
But to test for it, I think, they might need to find more than one person with the same power, and......"breed" them. *ahem*
The way many genetic experiments are done currently (at least with lab rats and such), in order to determine what effect the absence or presence of a particular gene has on the animal, they have to breed them in order to produce offspring who don't have that specific gene, and see the differences.
We currently don't have the technology to change a person's genes (I mean, there's no drug that will go in and say, alter your eyecolor gene so you can have green eyes when they're really brown). And we probably won't in 5 years, at least not according to Mohinder.
And the stuff about the junk DNA is exactly what I was getting at. Many scientists believe that the junk DNA is like "fodder" for evolution. Any small mutation in these segments could possibly reactivate them and manifest in new phenotypes (outward appearances of the expression of a gene), maybe like the powers our lovely Heroes have.
just to throw it in "always" is probably the WORST word in the English language
Gonadal dysgenesis, XY female type, is associated with point mutations or deletions of the SRY gene, but also in some cases with changes in the X chromosome.
XX male syndrome occurs when the affected individual appears as a normal male, but has female chromosomes. Two types of XX male syndrome can occur: those with detectable SRY gene and those without detectable SRY (Sex determining region Y). SRY is the main genetic switch for determining that a developing embryo will become male.
The XX male syndrome is also called de la Chapelle syndrome after the Finnish physician Albert de la Chapelle who first described it.
Hmm. Well then insert an "almost" in front of that, then.
Thanks for pointing that out. I had forgotten.
It's what I meant when I said androgen sensitivity. Very bad choice of words, but I could not remember the name for the genetic condition.
Forgive me for not being clear. Thanks, Blob.
Thanks, Obsidian. When I wrote, " I've read that genes can be expressed through RNA, and then you could see different traits than are encoded in the DNA," I didn't explain what I thought I meant. So I'll have at it again, and you can let me know if I'm close.
For the gene to be expressed, RNA is made from the DNA, and it has a version of the sequence in the DNA. I remember some kind of CGI from years ago showing a molecule splitting apart the two helices in DNA, and RNA forming on one helix as a replica of the other side. Anyway, the chromosome gets zipped back up, and the protein is built when constituent molecules are matched up with certain sequences on the RNA. Does the RNA have to leave the nucleus for that to happen, or does it happen in the nucleus? Where does the RNA go after the protein is made?
What I had read about was that someone had bred mice with coloring that was not what their DNA called for. RNA was present with a different sequence, and the proteins had apparently been built from that. I forget where the RNA came from exactly, but it was somehow a leftover from a parent. As I think about it, I'm wondering if the mice were conceived naturally or cloned (with nucleus of some other cell injected into a fertilized egg), because I'm not sure why there would be RNA for coloring (why would the gene ever be used) in a sperm or egg. (Or oocyte or spermatocyte, whatever the pre-meiosis cell is called.) Is this ringing a bell for anyone, or is it completely crazy?
I didn't get into the junk DNA, because in my mind I had lumped it in with all the other genes we don't know the function of. It seems to me that there would be a lot of things going on that we don't know how they work. How do we know what is junk DNA?
I know that for some genetic diseases, geneticists can find a genetic marker that the affected members in an extended family have but other family members don't. I think this was done with electrophoresis (sp? I bet spell check won't do that one) and finding the right enzyme to cut up the chromosomes. There are probably more sophisticated techniques now (anyone?), but it seems to me that comparing family members with and without a history of the trait you're interested in would still work.
Thanks for the tortoiseshell cat explanation. I knew it had to do with one X chromosome sort of folding itself up and not being used, and that sometimes two stem cells in an embryo might have different X chromosomes dormant, so that the animal ends up with a patchwork with one X chromosome expressed in some parts of the body, and the other X chromosome in the other parts. What was confusing me was whether other chromosome pairs can do this as well. If other chromosome pairs had one chromosome fold up and go dormant, no genes on that chromosome would be expressed, even if they were dominant. But it sounds like this only happens with the X chromosomes.
Finally, does anyone know what is coded by mitochrondrial DNA?
Blob wrote
Quote:
XX male syndrome occurs when the affected individual appears as a normal male, but has female chromosomes. Two types of XX male syndrome can occur: those with detectable SRY gene and those without detectable SRY (Sex determining region Y). SRY is the main genetic switch for determining that a developing embryo will become male.
What is the SRY doing there with no Y chromosome? What does the genetic switch turn on if the rest of the chromosome is missing? And I take it that XX males without a detectable SRY gene are still a mystery? (This was the closest I could find to a confused smiley. I'm not rolling my eyes at you.)
Quote:
The XX male syndrome is also called de la Chapelle syndrome after the Finnish physician Albert de la Chapelle who first described it.
That is a weird name for a Finn. Just a comment - obviously you didn't have anything to do with it.
Anyone still reading? Science geeks only?
P.S. Spellcheck fixed my spelling for electrophoresis, but it didn't like mitochondrial (mitochondria was OK).
I am still reading! I love biology. It's my number two hobby, behind History. Doctors are always amazed at how much I know (I really know nothing!). But, I am really a gear head and rocket scientist......!
I love reading about genetics, even if I can't explain it very well.
Can you also explain about hypermasculine and hyper feminine effects? one in which there are two Y or two X chomosomes?
Basically, a hypermasculine study is coded as XYY, while a hyperfeminine is coded as XXX... I don't know if this is totally accurate, it's just what was related to me by my friend. After all, I'm no med or science geek. I'm a computer programmer!
Anyway, I just was wondering.
Also, I've been led to believe in my reading of such things as Autism that one case could be determined as belonging to the metabolism group, but the next could be related to the autoimmune system. And the next to something else.
Each different case and type of affliction actually is rooted in something else. Down's Syndrome, Crohn's Disease, Lou Gherig's, Alzheimers, they're all afflictions, but they are all encoded in different areas that geneticists have yet to pinpoint. Alzheimers is especailly tricky mainly because it's never in the same place twice! They have the disease, and they have the cases. Do they have the gene? NO. They have leads, and they have a map, but they don't have a way to find it yet. They're still tracking it. Apparently for a gene it's able to hide very well..
If I'm wrong, feel free to correct me. After all, I'm working on textbooks that are 10 years out of date. Things have drastically changed since the last time I cracked some of these books..
Wowee. I'm gone for a couple of days, and all these responses pile up! Lol.. I'm by no means an expert on any of this--I'm just a student myself, still haven't even gotten to med school--but since I hear about it every day (bio major), I guess it gets absorbed. I'll help as much as I can with explanations, but please correct me if I'm wrong (a la Blob, up above ).
With that disclaimer aside, let's start, shall we?
Payquage wrote:
What I had read about was that someone had bred mice with coloring that was not what their DNA called for. RNA was present with a different sequence, and the proteins had apparently been built from that. I forget where the RNA came from exactly, but it was somehow a leftover from a parent. As I think about it, I'm wondering if the mice were conceived naturally or cloned (with nucleus of some other cell injected into a fertilized egg), because I'm not sure why there would be RNA for coloring (why would the gene ever be used) in a sperm or egg. (Or oocyte or spermatocyte, whatever the pre-meiosis cell is called.) Is this ringing a bell for anyone, or is it completely crazy? [Finally, does anyone know what is coded by mitochrondrial DNA?
To be honest with you, I'm not aware of this study, but just adding in that another possible source of the RNA could be a virus, or through a viral mechanism that possibly went awry. Viruses are just snippets of RNA (sometimes DNA) encased in a protein sheath, and they can use reverse transcriptase (an enzyme that reverses the transcription of DNA to RNA, so RNA is converted to DNA) to encode the DNA it needs. It's a stretch, but maybe the RNA was left over from this mechanism? Or it could even be a mutating virus, like HPV. Human Papiloma Virus is such a big deal for women because it has a high incidence of causing mutations in the DNA of cervical cells, often causing cervical cancer. Don't take any of my word on any of this, it's just my speculation.
Payquage wrote:
I didn't get into the junk DNA, because in my mind I had lumped it in with all the other genes we don't know the function of. It seems to me that there would be a lot of things going on that we don't know how they work. How do we know what is junk DNA?
Well, most ideas concerning junk DNA were started with species who have considerably fewer base pairs and genes than we humans do. Scientists have managed to map out the genomes for several other species (the Human Genome Project was a big deal because well....we're self-centered little beasties. Who cares about a fruit fly?) Going through these genomes, scientists have been unable to assign properties or uses for chunks of DNA.
I'm not entirely certain that the idea of junk DNA has been extended to humans yet, but I wouldn't be surprised if it was. The Human Genome Project would probably help out in assigning junk status to genetic information.
Payquage wrote:
What was confusing me was whether other chromosome pairs can do this as well. If other chromosome pairs had one chromosome fold up and go dormant, no genes on that chromosome would be expressed, even if they were dominant. But it sounds like this only happens with the X chromosomes.
It does only happen to X chromosomes, to the best of my knowledge (feel free to correct me, again). The reason for this is that X chromosomes essentially all produce the same products. If you have 2 chromosomes, you have 2 copies of the same gene, for which in this case you really only need 1 copy (men get along with 1 copy just fine). If both copies are active, this creates an overabundance of product, which can overwhelm the cells and be fatal.
Payquage wrote:
What is the SRY doing there with no Y chromosome? What does the genetic switch turn on if the rest of the chromosome is missing? And I take it that XX males without a detectable SRY gene are still a mystery?
During meiosis, genes undergo what's called crossover. Autosomal chromosomes (chromosomes that aren't sex-determining) undergo this process to ensure genetic variety in offspring. If they didn't, many siblings would be genetic twins, even if they were separated by 20 years (which is not good for evolution and natural selection). Anyway, it basically amounts to chromosomes swapping sections with each other. The XX-male syndrome can be attributed to a faulty crossover involving that section of the Y chromosome. It could either be transferred to an X chromosome or an autosomal chromosome. SRY is pretty much self-contained in its job to determine a male phenotype.
As you may or may not know, all humans start out as female embryos. The absence or mutation of the Y chromosome/SRY gene is what determines that you continue along the path to become female. If a functioning copy of SRY is detected, you become male, even if you're XX.
Jormengrund wrote:
Can you also explain about hypermasculine and hyper feminine effects? one in which there are two Y or two X chomosomes?
Basically, a hypermasculine study is coded as XYY, while a hyperfeminine is coded as XXX... I don't know if this is totally accurate, it's just what was related to me by my friend. After all, I'm no med or science geek. I'm a computer programmer!
The presence of an extra sex chromosome sometimes doesn't present any effect. In the case of "hyperfeminine," as you put it, a woman with XXX may not present any symptoms. She may be fertile, perfectly healthy and have normal intelligence. On the other hand, she may also be sterile and be mentally retarded. I haven't spent a lot of time learning about syndromes with multiple Y's. One I do remember is Klinefelter syndrome, where a male is born with multiple X's and possibly multiple Y's. This usually just results in sterility, reduced facial and body hair, and smaller genitals, and most have normal intelligence.
Maybe someone else could elaborate on this question, that's about all I really remember.
And finally...(phew!)
Jormengrund wrote:
Also, I've been led to believe in my reading of such things as Autism that one case could be determined as belonging to the metabolism group, but the next could be related to the autoimmune system. And the next to something else.
Each different case and type of affliction actually is rooted in something else. Down's Syndrome, Crohn's Disease, Lou Gherig's, Alzheimers, they're all afflictions, but they are all encoded in different areas that geneticists have yet to pinpoint. Alzheimers is especailly tricky mainly because it's never in the same place twice! They have the disease, and they have the cases. Do they have the gene? NO. They have leads, and they have a map, but they don't have a way to find it yet. They're still tracking it. Apparently for a gene it's able to hide very well..
Autism has been blamed on pretty much everything from diet to genes to vaccinations. I'm personally of the belief that there's a genetic predisposition, but that's just me. I also believe that all the diseases you mention probably arise from a predisposition to certain mutations. There may not be a gene coding for that disease, but if one part of a gene mutates in a particular way, then it can snowball and manifest as the disease.
Or many of them could also have nothing to do with genetics. Look at Creutzfeldt-Jakob disease (i.e., "Human Mad Cow"). That disease is passed on by prions, which are proteins present in the tainted meat that alter the structure of existing proteins in the brain.
I am SO sorry for this giant wall of text! This is what I get for not checking up on y'all sooner.
And again, feel free to elaborate on what I've written or correct me if I'm wrong. I'd like to learn too!
Each different case and type of affliction actually is rooted in something else. Down's Syndrome, Crohn's Disease, Lou Gherig's, Alzheimers, they're all afflictions, but they are all encoded in different areas that geneticists have yet to pinpoint. Alzheimers is especailly tricky mainly because it's never in the same place twice! They have the disease, and they have the cases. Do they have the gene? NO. They have leads, and they have a map, but they don't have a way to find it yet. They're still tracking it. Apparently for a gene it's able to hide very well...
Down's syndrome is trisomy 21. One chromosome from the 21st pair is duplicated. In 95% of cases, an entire extra chromosome is present. In the rest, it's various forms of a partial copy or partial distribution through the body.
The cause of Alzheimer's is not understood, but individual genes have been identified and located which apply to early-onset familial Alzheimer's (and one of those increases susceptibility to the more common late-onset Alzheimer's). That's the problem - it's not that researchers can't locate "the" gene. It's because there are multiple genes which can cause it. For late-onset Alzheimer's, either they haven't found the gene(s) yet, or there are other causes or contributing factors.
I wrote a long post about Alzheimer's in "Don't I deserve to be saved" - it's at the bottom of page 6. I had trouble finding information about a genetic link when I researched that part. I had found mention of other risk factors, such as type 2 diabetes. Since then, I've read a short article about research at the University of Rochester Medical School (Howard Federoff and colleagues). They were working with a gene for a protein called apolipoprotein E which helps transport cholesterol through the body. The gene has been identified as a leading risk factor for Alzheimer's. The point of the article was that they found the gene interacts with the herpes simplex virus, which causes cold sores.
This website is an unofficial fan site dedicated to promoting the NBC show "Heroes" and is in no way affiliated with NBC or the actors. We claim no copyright to images, graphics, videos or photos which were created by the makers of "Heroes." No copyright infringement intended. THIS SITE HOSTS "ORIGINAL" CONTENT. If a video or image from an offsite provider like YouTube or ImageShack is linked in a post on this website and violates your copyright, contact us and we'll remove the link to your content immediately. HOWEVER YOU WILL STILL NEED TO CONTACT THE OFFSITE PROVIDER TO HAVE YOUR VIDEO OR IMAGE REMOVED FROM THE INTERNETS.
CONTACT US Privacy Policy
(This was the closest I could find to a confused smiley. I'm not rolling my eyes at you.)
