Human Genome Is Much More Than Just Genes

06 Sep 2012 10:24 #1 by ScienceChic
The genetics chapter of 9th Grade Biology is about to get a whole lot more complicated! tongue: :like:

Human Genome Is Much More Than Just Genes
by Elizabeth Pennisi on 5 September 2012

The human genome—the sum total of hereditary information in a person—contains a lot more than the protein-coding genes teenagers learn about in school, a massive international project has found. When researchers decided to sequence the human genome in the late 1990s, they were focused on finding those traditional genes so as to identify all the proteins necessary for life. Each gene was thought to be a discrete piece of DNA; the order of its DNA bases—the well-known "letter" molecules that are the building blocks of DNA—were thought to code for a particular protein. But scientists deciphering the human genome found, to their surprise, that these protein-coding genes took up less than 3% of the genome. In between were billions of other bases that seemed to have no purpose.

ENCODE's results are changing how scientists think about genes. That DNA includes slightly less than 21,000 protein-coding genes (some researchers once estimated we had more than 100,000 such genes); <snip> and 11,224 stretches of DNA that are classified as pseudogenes, "dead" genes now known to really be active in some cell types or individuals. In addition, efforts to define the beginning end, and coding regions of these genes revealed that genes can overlap and have multiple beginnings and ends.

These and other findings appear today in six papers in Nature, and 24 in Genome Research and Genome Biology. Two additional papers are published today on Science online.


An integrated encyclopedia of DNA elements in the human genome
The ENCODE Project Consortium
Nature #489, pg 57–74
(06 September 2012)
doi:10.1038/nature11247

Received 24 November 2011
Accepted 29 May 2012
Published online 05 September 2012

The human genome encodes the blueprint of life, but the function of the vast majority of its nearly three billion bases is unknown. The Encyclopedia of DNA Elements (ENCODE) project has systematically mapped regions of transcription, transcription factor association, chromatin structure and histone modification. These data enabled us to assign biochemical functions for 80% of the genome, in particular outside of the well-studied protein-coding regions. Many discovered candidate regulatory elements are physically associated with one another and with expressed genes, providing new insights into the mechanisms of gene regulation.


ENCODE's Map

"Now, more than ever, the illusions of division threaten our very existence. We all know the truth: more connects us than separates us. But in times of crisis the wise build bridges, while the foolish build barriers. We must find a way to look after one another as if we were one single tribe.” -King T'Challa, Black Panther

The truth is incontrovertible. Malice may attack it. ignorance may deride it, but in the end, there it is. ~Winston Churchill

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06 Sep 2012 16:31 #2 by KJack
That is some interesting stuff there chic, I just wish I could understand it all because it is pretty interesting. I hope I'm not the only one who feels a little stupid haha. You may cause me to stretch my brain cells a little.

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06 Sep 2012 23:08 #3 by ScienceChic
Good - the brain needs just as much exercise as the muscles! :thumbsup:

It's never my intent to make anyone feel dumb, I post the science stuff that I find interesting (or near and dear to my heart - I used to do work in genetics, molecular biology, and neuroscience) and hope that people will find it interesting as well and maybe even explore a little more on their own. I firmly believe that learning is a life-long activity, and since science is a subject that many are intimidated by, and are exposed to even less during their normal day-to-day activities, my goal was to share what I knew in an easy-to-understand way and encourage curiosity and passion for that which I love! Feel free to ask any questions, if I can't answer them, I'll try to find answers or point you to sites that can help.

Here's a genetics basics tutorial from the National Institutes of Health that might help with this topic.
http://publications.nigms.nih.gov/thene ... pter1.html
http://ghr.nlm.nih.gov/handbook/basics/gene

The history of genetics is a fascinating one. It started with a rudimentary idea that sperm contained essentially a miniature person that merely required fusion with a female egg for nutrients in order to grow into a person, to the discovery that specific characteristics were heritable (Mendel's experiments with peas), the startling revelation that DNA, not protein as widely believed but unproven, was the substance in our cells that dictated creation and control of growth of a new organism (Avery, McLeod, and McCarty), to the race to discover the basic structure of DNA (Watson and Crick), to the finding that DNA is made into RNA and that is made into proteins that make up our cells and tissues with other types of RNA that act as on/off switches to the complicated picture we have today that we have very few protein-coding genes (less than some other plants and animals even, so it's not the number of proteins that make us smarter, self-aware, capable of speech, etc), and that much of our unique development and traits are due to complex fine-tuning done by RNA molecules, even at the tissue-specific level, some of which we didn't even know existed 15 years ago (microRNAs for example).

It makes for excitement of new discoveries yet to be made, and the disheartening realization that cures for many genetic diseases is still further off than we'd like.
Genetics Time line: http://www.bio.davidson.edu/people/kaha ... eline.html

If you are wanting even more, I highly recommend starting with these books:
The Transforming Principle: Discovering that Genes Are Made of DNA by Maclyn McCarty - the story from one of the principle investigators who confirmed that DNA, not protein, is the hereditary factor

The Double Helix: A Personal Account of the Discovery of the Structure of DNA by James Watson about the race to discover the actual physical structure of DNA. Brilliant man, who was in the right place at the right time, and whose arrogance knows no bounds; yet rightfully deserves much credit. It's neat to get the first-hand perspective.

A History of Genetics by A. H. Sturtevant - the man who discovered chromosomes in Fruit flies and laid the foundation for a century of genetics experiments in fruit flies

And if you want to get really crazy, :) read this classic proposing that our bodies are but vehicles for genes to propagate themselves, presenting natural selection from a molecular point of view.
The Selfish Gene by Richard Dawkins
(Dawkins has a few others that are really good too - The Extended Phenotype: The Long Reach of the Gene, The Blind Watchmaker, and The Greatest Show on Earth: Evidence for Evolution - you read his books and I promise you that the way you think will forever be changed!)

Read as much or as little as you like, I tend to go a little overboard when I'm excited about a subject! lol

"Now, more than ever, the illusions of division threaten our very existence. We all know the truth: more connects us than separates us. But in times of crisis the wise build bridges, while the foolish build barriers. We must find a way to look after one another as if we were one single tribe.” -King T'Challa, Black Panther

The truth is incontrovertible. Malice may attack it. ignorance may deride it, but in the end, there it is. ~Winston Churchill

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07 Sep 2012 10:51 #4 by KJack
This is a pretty technical subject for sure but you got me interested in learning more. My family has a history of crappy deseases, cancer, MS . Just hoping this kind of research helps people like me avoid or lessen some of the problems the rest of my family has. Nice to see some smart people around here - good post!

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07 Sep 2012 11:20 #5 by ScienceChic
Thanks! Yeah, mine too - cancer, heart disease, glaucoma, diabetes, cataracts. I was pretty lucky in that we grew up on a farm so I was raised on fresh fruits and vegetables right out of the garden and they are my comfort food; eating healthy has never been an issue for me (I detest fast food now, but did eat it in college quite a bit). My motto to lessen health problems I'll eventually develop is to generally eat well, but not feel guilty at the bad things I do have as long as I do it in moderation, exercise cuz it's fun and keeps me in shape, and keep stress to a minimum. I know someday I'll get to the point where something will always hurt or not feel right as my body wears out so I'm grateful for how well I am now.

I am guilty of not eating enough (although calorie restricted diets are proven to extend life span!) and definitely not sleeping enough. There's just too much to do that I love doing! I think a great attitude makes up for a lot of what we may be predestined for, delaying (or staving it off completely, who knows?). Worrying about what "may be" takes too much time and energy, solving problems now and preparing for the future is a lot more enjoyable.

So what prompted you to move from Alaska to here, if you don't mind me asking?

"Now, more than ever, the illusions of division threaten our very existence. We all know the truth: more connects us than separates us. But in times of crisis the wise build bridges, while the foolish build barriers. We must find a way to look after one another as if we were one single tribe.” -King T'Challa, Black Panther

The truth is incontrovertible. Malice may attack it. ignorance may deride it, but in the end, there it is. ~Winston Churchill

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08 Sep 2012 10:17 #6 by ScienceChic
Swinging genomics
Sep 5th 2012, 21:19 by O.M.

A HUGE scientific collaboration producing 30 papers simultaneously, as the ENCODE consortium just has (see story in the coming print edition), is entitled to a little razzamatazz. But how exactly to celebrate in a way that cements the idea in the cultural zeitgeist?

Thus London’s Science Museum, which has added a display about ENCODE to the exploration of genetics and identity in its “Who am I” gallery , is about to host a rather beautiful interpretation of the project to go alongside it. Three athletic performers pull themselves lithely up strips of silk in which they then wrap and unwrap themselves, moving from stance to graceful stance and entanglement to entanglement with fluid poise. It sounds an unlikely illustration of the charms of industrial-strength computationally heavy genomics, but in fact it is rather successful.


That "Who Am I" Gallery is pretty cool! http://www.sciencemuseum.org.uk/whoami

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"Now, more than ever, the illusions of division threaten our very existence. We all know the truth: more connects us than separates us. But in times of crisis the wise build bridges, while the foolish build barriers. We must find a way to look after one another as if we were one single tribe.” -King T'Challa, Black Panther

The truth is incontrovertible. Malice may attack it. ignorance may deride it, but in the end, there it is. ~Winston Churchill

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11 Sep 2012 09:50 #7 by KJack

Science Chic wrote:
So what prompted you to move from Alaska to here, if you don't mind me asking?

I moved here because a friend of mine lives here. We fished together on a commercial boat for quite a few years and he decided to move back to Colorado to go to college after the Exxon spill ending fishing for us the next year. I never wanted to leave the island until a few years ago when I finally had a big chunk of money saved. It was hard to leave that place, hard to explain but it was the people I didn't want to leave. We have a pretty tight community where people watch each others back. That's the way of the sea too; if your boat is having trouble, the nearest boat has an unspoken obligation to help. That's why I'm choosing to live in the mountains. I just hope some of that same attitude exists in the Conifer to Bailey areas where I'm looking to buy a house. After reading through all the different sections of this site, I think I'll be able to fit in pretty well (maybe not the courthouse :VeryScared: ) No offense to anyone.

But really the main reason I left was because of the sun, i just want more of it and you have it here. I love the Kodiak summers, but the winters are too depressing for me anymore. It doesn't get as cold as people may think (below zero is very rare) but the lack of sun is depressing. I plan on getting a good tan now!

I also want to drive and not run out of road. There is much I want to see :wink:

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11 Sep 2012 11:10 #8 by ScienceChic
I hear ya about the winters. Cincinnati gets more sun that Alaska, but cold, cloudy, and dreary for 6 months is a killer - I'll never move back. Kodiak sounds great for the people though!

So I have to ask: :biggrin: Deadliest Catch - did it affect where you lived and worked, did you notice any change in people's lives with all the attention? How many more commercial boats are up there than the few they follow? I always wondered about how they picked the ones they do follow and how everyone else feels about that. (And was the Kodiak your favorite, if you watched it?) :)

I was just really curious about your potentially first-hand viewpoint. :) I watched it until Captain Phil died, then I just couldn't stay interested anymore - he had so much heart and was so full of character that the rest just seem to pale in comparison (except the Time Bandit Crew, but they can't be on-screen all the time, and didn't seem to get much air-time so I drifted off, so to speak).

"Now, more than ever, the illusions of division threaten our very existence. We all know the truth: more connects us than separates us. But in times of crisis the wise build bridges, while the foolish build barriers. We must find a way to look after one another as if we were one single tribe.” -King T'Challa, Black Panther

The truth is incontrovertible. Malice may attack it. ignorance may deride it, but in the end, there it is. ~Winston Churchill

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13 Sep 2012 14:12 #9 by KJack
We all love Deadliest Catch because it shows how hard we all work to get the fish you all eat. There used to be a lot of King Crab in the Kodiak area but it was badly regulated for a long time and eventually was fished out. Some say it was a natural cycle but most believe it was greed and bad regulation. Heres a link to the Kodiak museum http://www.kodiakmaritimemuseum.org/programs/king-crab/ .

So because there is no crabbing allowed in Kodiak, the boats you see are not around much during the winter because they fish further north near Dutch Harbor. The Time Bandit was in Kodiak a few months back getting some kind of repair - it had a huge hole cut into the side. My dad knows Hillstrand the skipper, but I haven't met him. The Cornelia Marie is there too but I think Harris just stores it there during the summer. So overall we don't have a lot of interaction with the boats on the show, they mainly show up for repairs. When Phil died it was a big deal in our town because he was so well known, but we have a long list of others who have died and it's just part of the risk so we get kinda used to it.

There is a big film crew in kodiak now and they are staying at a place called the Russian River Roadhouse and the owner is a friend of the family. I'll let you know what the show is called when I find out but it's about the Kodiak wildlife.

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