Tuesday, September 11, 2012

'Junk DNA' Plays Crucial Role In Human Diseases

A lot more of our genome is biologically active than previously thought - about 80% - an international team involving over 400 scientists revealed yesterday. The researchers explained that only approximately 1% of our genome has gene regions that code for proteins, which has made them wonder what is going on with the rest of the DNA. Now that we know that four-fifths of the genome is biochemically active, in a way that regulates the expression of nearby genes, geneticists realize that much less of our genome consists of junk DNA as once believed.

9 Experts believe these new findings will help us better understand how several diseases develop and behave, which may lead to more effective and targeted treatments.

The human genome has twice as many genes than previously thought. Many of the previously unknown genes play a role in cellular control, which may impact on the development of human diseases.

The international consortium of scientists analyzed and experimented on sequencing data from 140 different types of human cells and identified thousands of DNA regions that help direct our genes' activities.

Manolis Kellis, an associate professor of computer science at MIT, and co-author of a report that has appeared in several scientific journals, including Nature, said:

"Humans are 99.9 percent identical to each other, and you only have one difference in every 300 to 1,000 nucleotides. What ENCODE allows you to do is provide an annotation of what each nucleotide of the genome does, so that when it's mutated, we can make some predictions about the consequences of the mutation."

What is ENCODE?

ENCODE (Encyclopedia of DNA Elements) is a public research conglomerate launched by the NHGRI (National Human Genome Research Institute) in the USA, and the EMBL-European Bioinformatics Institute (EMBL-EBI) in the UK, in 2003. Its aim is to identify all the functional components of the human genome. The NHGRI and EMBL-EBI pledged to release all project data immediately into public databases.

DNA Strand
What scientists initially thought was junk DNA is actually biochemically active.
One of the aims of ENCODE was to better understand the human genome beyond protein-coding genes. Scientists can do this by examining the chemical changes that occur in individual stretches of DNA - these stretches control when specific genetic regions become active. The chemical modifications vary by cell type, and can change the DNA directly, or just the histone proteins that DNA surrounds.

A pilot project was published in 2007, which had looked at 1% of the human genome.

To map these epigenomes (modifications), the researchers gathered data from various cell types. While some laboratories measured DNA histone modifications, others gauged the accessibility of various DNA stretches by cutting them into fragments with enzymes.

ENCODE is a collaboration of 442 scientists from 32 laboratories in Japan, Singapore, Spain, the USA and UK. Together, they generated and examined over 15 terabytes of raw data - all this data is now publicly available. They have used approximately 300 years' worth of computer time, focusing on 147 tissue types to find out what turns certain genes on and off, and the specific characteristics of switches in different cell types.

The ENCODE scientists found that about 80% of the human genome is involved in some type of biochemical event, such as protein binding, specifically binding to proteins that impact on how neighboring genes are used. They also found that the very same regulatory regions have different roles to play, depending on what kind of cell they are acting in.

The scientists analyzed the conservation of the A, T, C and G nucleotides in the new regulatory regions they had identified. Nucleotides are conserved if they stay the same over long periods during our evolution. This can be examined by either comparing how variations occur between different species, or among individuals of the same species.

In an online communiqué, the European Bioinformatics Institute, wrote:

"On 5 September, an international team of researchers reveal that much of what has been called 'junk DNA' in the human genome is actually a massive control panel with millions of switches regulating the activity of our genes. Without these switches, genes would not work - and mutations in these regions might lead to human disease."

Three Billion Pairs of Genetic Code

So far, all three billion pairs of genetic code that make up human DNA have been analyzed by ENCODE. Scientists at the European Bioinformatics Institute explained that they have identified the genome function of 4 million gene switches, which will help researchers hone-in on specific areas of human disease, and hopefully find ways to better treat or cure them. They added that the switches are frequently a long way along the genome from the gene they regulate.

Ewan Birney of the European Bioinformatics Institute, lead analysis coordinator for ENCODE, said: "Our genome is simply alive with switches: millions of places that determine whether a gene is switched on or off. The Human Genome Project showed that only 2% of the genome contains genes, the instructions to make proteins. With ENCODE, we can see that around 80% of the genome is actively doing something. We found that a much bigger part of the genome - a surprising amount, in fact - is involved in controlling when and where proteins are produced, than in simply manufacturing the building blocks."

Ian Dunham, also of European Bioinformatics Institute, said that ENCODE is a useful research tool for any researcher looking into human diseases. Scientists investigating diseases often have a good idea about which genes are involved, but need data on which switches play a role. In some cases the locations of these switches are not where they expected them to be. Dunham said "ENCODE gives us a set of very valuable leads to follow to discover key mechanisms at play in health and disease. Those can be exploited to create entirely new medicines, or to repurpose existing treatments."

A principal investigator on ENCODE, Dr Michael Snyder, professor and chair at Stanford University, explained that ENCODE provides us with the knowledge required so that we can look beyond the genome's linear structure to how the whole network is connected. Genome-wide association studies are helping us understand where certain genes are located, as well as which sequences control them. Snyder said "Because of the complex, three-dimensional shape of our genome, those controls are sometimes far from the gene they regulate and looping around to make contact. Were it not for ENCODE, we might never have looked in those regions. This is a major step toward understanding the wiring diagram of a human being. ENCODE helps us look deeply into the regulatory circuit that tells us how all of the parts come together to make a complex being."

Before, generating and storing enormous volumes of data was a problem in biomedical research. However, as productivity of genome sequencing has improved and become more economical, the focus has moved to analysis, i.e. interpreting data generated from genome-wide association studies. Cambridge University scientists said "ENCODE partners have been working systematically through the human genome, using the same computational and wet-lab methods and reagents in laboratories distributed throughout the world."

Ewan Birney said:

"Getting the best people with the best expertise together is what this is all about. ENCODE has really shown that leading life scientists are very good at collaborating closely on a large scale to produce excellent foundational resources that the whole community can use."


The scientists emphasized that it will be several years before doctors and patients see any tangible benefits from ENCODE.

36 comments:

Anonymous said...

I know this website offers quality based articles or reviews
and other information, is there any other website which offers
such stuff in quality?
Feel free to surf my site ... my blogspot

Anonymous said...

A fascinating discussion is worth comment. I think that you need to publish more about this subject, it
might not be a taboo subject but generally people don't discuss such subjects. To the next! Best wishes!!
Take a look at my blog ... click here link

Anonymous said...

sex
Here is my webpage ; sex

Anonymous said...

Very nice. :)
Related posts here http://healthbuzz.eu

larry said...

Thanks for sharing your blog. It is nice. Keep sharing.

Advanced Male Medical Center

John Smith said...

It's nice to examine my journal Life logia up there! Thanks for the support ;)

Anonymous said...

sex
Also visit my web-site ; sex

Anonymous said...

I read this article fully regarding the difference of latest and preceding technologies,
it's remarkable article.
Also see my webpage > payday loans

Anonymous said...

Good aгtiсle! We are linking to thіs particularly great artiсle on our ѕite.

Kеep up the great writing.
Feel free to visit my blog :: steroids sbest steroids legal steroids types of steroids

Anonymous said...

I was recommended this ωeb sіte by my cousin.
I'm not sure whether this post is written by him as no one else know such detailed about my difficulty. You're incrediblе!
Thanks!
Also visit my page ... zyzz steroids ssteroids online injectable steroids anabolic steroids facts

Anonymous said...

Interesting blog! Is your thеme сuѕtom maԁе oг did уou
dοwnload it from sοmewheгe?

A theme liκe yοurs ωith a few sіmplе tweеkѕ wοuld
rеally mаke my blog stаnԁ οut.
Ρleasе lеt me κnow where
you got your desіgn. Thanks а lot
Also visit my web blog definition of steroids sronnie coleman steroids women on steroids best legal steroids

Anonymous said...

What's up i am kavin, its my first time to commenting anyplace, when i read this post i thought i could also create comment due to this good article.
My webpage : Asics Gel-Kayano 17

Anonymous said...

Hi there every one, here every one is sharing these kinds of knowledge, therefore it's nice to read this web site, and I used to pay a quick visit this blog every day.
Also see my page: Hidradenitis Suppurativa

Anonymous said...

Greetіngs! This is mу first сomment heгe so I just wanteԁ to give a quick shout οut аnd tell you I trulу enjoy reading through yοur posts.
Can уou recommеnd any other blogs/webѕіtes/forums that gο over the same toρics?
Thanks a lot!
Look at my homepage ... pilates exercises

Anonymous said...

Excellent post. I absolutely love this website.
Thanks!
Also visit my web-site : Beyond Calories Program

Anonymous said...

I'm curious to find out what blog platform you happen to be utilizing? I'm experiencing some minor security issues with my latest website and I would like to find something more safe.
Do you have any suggestions?
Also visit my blog post ; sex

Anonymous said...

Hello, I do think your site could possibly be having internet browser compatibility issues.
When I look at your blog in Safari, it looks fine however,
when opening in Internet Explorer, it's got some overlapping issues. I simply wanted to give you a quick heads up! Apart from that, excellent blog!
Also see my web page > my website

Anonymous said...

This text is invaluable. When can I find out more?
Here is my website ; diets that work for women

Anonymous said...

These are actually enormous ideas in about blogging.

You have touched some good things here. Any way keep up wrinting.
Also visit my web page diet plans that work

Anonymous said...

Everуthing is very open with a very cleaг сlarifіcation of the issues.
It was truly infοrmative. Υour website is useful.
Τhanks fοr shаrіng!
My webpage :: alivenotdead.com

Anonymous said...

bear grylls messer
Feel free to visit my weblog - bear grylls messer

Anonymous said...

Hello, I think your website might be having browser compatibility issues.

When I look at your website in Opera, it looks fine but when opening in Internet Explorer,
it has some overlapping. I just wanted to give you a quick heads up!
Other then that, superb blog!
My web page :: Gretchen

Anonymous said...

Its like you read my mind! You seem to know a
lot about this, like you wrote the book in it or something.
I think that you could do with some pics to drive the message home a bit,
but other than that, this is excellent blog.
An excellent read. I'll certainly be back.
My homepage - lucila13.wetpaint.com

Anonymous said...

I tend not to write a comment, but after looking at through a few of the remarks on "'Junk DNA' Plays Crucial Role In Human Diseases".
I do have a couple of questions for you if it's allright. Is it just me or do some of the comments come across like they are written by brain dead individuals? :-P And, if you are writing at additional online social sites, I would like to keep up with you. Could you list of all of all your shared sites like your Facebook page, twitter feed, or linkedin profile?
Feel free to surf my weblog : Truthaboutabsdiscount.org

Anonymous said...

This post is priceless. How can I find out more?
Have a look at my web page ... removing blackheads naturally

Anonymous said...

Hi there! This blog post could not be written any better!
Looking at this article reminds me of my previous roommate!
He always kept preaching about this. I will forward
this information to him. Pretty sure he's going to have a good read. Many thanks for sharing!

Prescription Swimming Goggles
My web-site :: Prescription Swimming Goggles

Anonymous said...

Hey! Do you know if they make any plugins to safeguard against hackers?
I'm kinda paranoid about losing everything I've worked hard on.
Any tips?
Also visit my web blog : Minimize Stretch Marks

Anonymous said...

It's appropriate time to make some plans for the future and it's time to be happy.
I have read this post and if I could I desire to suggest you few interesting
things or tips. Maybe you could write next articles referring
to this article. I wish to read more things
about it!
Feel free to surf my web site ... School

Anonymous said...

Α motiνаting ԁiѕcussiοn іѕ ωorth сomment.
I ԁo thinκ that you need tο write more οn
this issue, it mаy not be a taboo subject but tуpically folkѕ
don't talk about such subjects. To the next! Many thanks!!
Feel free to visit my weblog :: Franklin upholstery cleaning

Anonymous said...

I'm no longer certain the place you are getting your info, but good topic. I must spend a while studying much more or figuring out more. Thank you for excellent info I used to be looking for this information for my mission.
Feel free to visit my blog Action Figures

Anonymous said...

I loved as much as you'll receive carried out right here. The sketch is tasteful, your authored material stylish. nonetheless, you command get bought an shakiness over that you wish be delivering the following. unwell unquestionably come more formerly again since exactly the same nearly a lot often inside case you shield this increase.
my page - youtube.com

Anonymous said...

It is appropriate time to make a few plans for the future and it
is time to be happy. I've learn this put up and if I could I want to suggest you few fascinating issues or tips. Perhaps you can write subsequent articles regarding this article. I want to learn more things approximately it!
Feel free to surf my blog ; How To Lose Weight

Anonymous said...

I love looking through a post that can make
men and women think. Also, many thanks for allowing for me to comment!
My homepage ; Webs.Com

Anonymous said...

Hey! Someone in my Myspace group shared this website with us so I came to give it a look.

I'm definitely loving the information. I'm bookmarking and will be tweeting this to my followers!
Great blog and excellent style and design.
My site - Cure Insomnia

Anonymous said...

Supеrb, what a blog it is! This blog presеntѕ uѕеful information tο us,
kееp it uρ.
Here is my blog post :: massa muscular rápido

Anonymous said...

Nice blog here! Also your website loads up very fast!
What web host are you using? Can I get your affiliate link
to your host? I wish my site loaded up as fast as yours lol
Stop by my web page ... best fridge to buy

Related Posts Plugin for WordPress, Blogger...

Popular Posts