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Human genome completed (again)
news@nature.com ^
| 17 May 2006
| Helen Pearson
Posted on 05/17/2006 2:10:02 PM PDT by neverdem
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![](/news/images/spacer.gif) Published online: 17 May 2006; | doi:10.1038/news060515-12 Human genome completed (again)Scientists today publish the sequence of chromosome 1: the largest and last of the human chromosomes to be done and dusted. News@nature finds out what this latest milestone means.Helen Pearson Haven't scientists already announced the completion of the human genome?
Well, yes. Twice. In 2000, two teams declared with great fanfare that they had produced a draft copy of the human genetic code, but there were many gaps and errors in this version. Another announcement, in 2003, marked the completion of a far more accurate 'finished' sequence by those involved in the public-financed Human Genome Project, although there are still a few gaps and uncertain areas in this one too.
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Our number one, and biggest, chromosome has now been sequenced. © Getty |
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Over the years, various research groups have also separately published sequences of all 22 numbered chromosomes, plus the X and Y chromosomes. These projects have filled in some of the holes and pinned down the sequences with greater accuracy. Importantly, they also annotated the raw sequences by mapping on to them the position of genes and other important landmarks, making it more useful for other scientists to work with. Chromosome 1 is the final one to be mapped out in this way.
Why is chromosome 1 the last to be finished?
Chromosome 1 is the largest human chromosome, containing about 8% of the entire genome. That's six times longer than its smallest sibling, chromosome 21. Work on this monster started a couple of years after researchers cracked into some of the other chromosomes, says Simon Gregory of Duke University in Durham, North Carolina. Gregory led the project's team of more than 160 collaborators in their eight-year quest.
The task took so long, Gregory says, that it was regularly ridiculed in the annual pantomime at the Wellcome Trust Sanger Institute in Cambridge, UK, where much of the sequencing was done. "There's always friendly rivalry to get your chromosome out first," he says. Now it's finally done, "it's an incredible relief," he adds.
Is there anything notable on chromosome 1?
The chromosome carries an estimated 3,141 genes that manufacture proteins, making it one of the most gene-rich chromosomes. The hope is that this sequence will help scientists to track down the genes underlying the more than 350 diseases linked to chromosome 1. One team, for example, has already used it to find a gene involved in cleft lip and palate.
The scientists identified large chunks and single-letter changes (known as SNPs) that differ between people and might explain an individual's unique characteristics or susceptibility to disease. They also exposed regions of the chromosome that differ between ethnic populations. One gene active in fat tissue, for example, differs in European, African and Asian populations, perhaps because a variant of the gene increased the amount of fatty tissue for populations in cold climes and was favoured by evolution. The results are reported in Nature1.
So how does the human genome begin?
'A' may start the alphabet, but you could argue that 'C' starts the human genome. Scientists conventionally lay out the genome from the top of chromosome 1 to the tip of the Y chromosome, and they discount the repeated patterns of DNA that make up the chromosome tips known as telomeres. Based on all the sequence data now collected, it looks as though our genome started with the chemical building-block cytosine, or C.
What are researchers doing now that they have the full set of sequenced human chromosomes?
Around half the genes in the human genome still have no known function, so researchers are trying to figure out what they do, and to reveal more details about how one person's genome differs from another. Scientists are also increasingly scrutinizing the regions outside genes, which were once discounted as junk but are now thought to harbour all kinds of useful sequences.
Is this the end of the Human Genome Project? Or could we see yet another announcement that the sequence is complete?
This is probably the last big landmark for the sequencing effort. "It's closing the last chapter on this volume," Gregory says. "We've wrung as many announcements out of it as we can."
But there is much more yet to learn about the details of our DNA and how it functions: more fanfare on this will surely follow.
Visit our newsblog to read and post comments about this story.
References
Gregory S. G., et al. Nature, 441. 315 - 321 (2006). | Article | |
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![](/news/images/spacer.gif) Story from news@nature.com: http://news.nature.com//news/2006/060515/060515-12.html |
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TOPICS: Culture/Society; Extended News; Government; News/Current Events; US: District of Columbia; US: North Carolina; United Kingdom
KEYWORDS: genealogy; genes; genetics; godsgravesglyphs; health; helixmakemineadouble; humangenome; humangenomeproject; science
1
posted on
05/17/2006 2:10:05 PM PDT
by
neverdem
To: AdmSmith; AnalogReigns; caryatid; CobaltBlue; concentric circles; Domestic Church; Emmalein; ...
To: neverdem
One of the greatest accomplishments of all time, and you get snippy comments.
I can just see it now:
- So you finally harnessed fire. Well, what took you so long. I'da done it a lot sooner!
- The wheel? What's it good for anyway.
Some people just seem to dislike science. I find that disgusting.
3
posted on
05/17/2006 2:40:18 PM PDT
by
Coyoteman
(Stupidity is the only universal capital crime; the sentence is death--Heinlein)
To: neverdem
Somewhat related: how many here are running
Folding@Home clients?
4
posted on
05/17/2006 2:56:32 PM PDT
by
Dumb_Ox
(http://kevinjjones.blogspot.com)
To: Dumb_Ox
We have about 185 active members running about 1,000 CPUs. We just passed the 6,000,000 point mark and are averaging about 45,000 points per day. We have been running this for about 18 months, but just started to see explosive growth in December.
Please join us on our latest thread at:
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Better yet, join us by downloading copy of F@H at:
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By convention we use our FReep names and our team number is 36120.
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5
posted on
05/17/2006 4:25:43 PM PDT
by
texas booster
(Join FreeRepublic's Folding@Home team (Team # 36120))
To: VadeRetro; Junior; longshadow; RadioAstronomer; Doctor Stochastic; js1138; Shryke; RightWhale; ...
6
posted on
05/18/2006 7:01:59 AM PDT
by
PatrickHenry
(Unresponsive to trolls, lunatics, fanatics, retards, scolds, & incurable ignoramuses.)
To: neverdem
Have they found the gay gene yet?.........
7
posted on
05/18/2006 7:14:48 AM PDT
by
Red Badger
(Liberals reward sloth and revere incompetence...........)
To: PatrickHenry
"Again!" Haha! Science had to do it over!
</Luddite_Mode>
8
posted on
05/18/2006 7:19:29 AM PDT
by
VadeRetro
(Faster than a speeding building; able to leap tall bullets at a single bound!)
To: blam; FairOpinion; StayAt HomeMother; Ernest_at_the_Beach
9
posted on
02/03/2007 11:05:17 AM PST
by
SunkenCiv
(I last updated my profile on Wednesday, January 31, 2007. https://secure.freerepublic.com/donate/)
To: Dumb_Ox; texas booster
I am folding @ Home and at the office.
I'm currently #151 with 15,875 points in less than 4 months.
Garde la Foi, mes amis! Nous nous sommes les sauveurs de la République! Maintenant et Toujours!
(Keep the Faith, my friends! We are the saviors of the Republic! Now and Forever!)
LonePalm, le Républicain du verre cassé (The Broken Glass Republican)
10
posted on
02/03/2007 11:11:23 AM PST
by
LonePalm
(Commander and Chef)
To: Red Badger
Have they found the gay gene yet?.........Take your pick. They're all twisted.
![](http://www.hackcanada.com/homegrown/redneck2.gif)
![](http://c9cat.com/catalog/images/3905.jpg)
Garde la Foi, mes amis! Nous nous sommes les sauveurs de la République! Maintenant et Toujours!
(Keep the Faith, my friends! We are the saviors of the Republic! Now and Forever!)
LonePalm, le Républicain du verre cassé (The Broken Glass Republican)
11
posted on
02/03/2007 11:20:53 AM PST
by
LonePalm
(Commander and Chef)
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