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Biology: The Human Gene Pool


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About this Lesson

  • Type: Video Tutorial
  • Length: 12:07
  • Media: Video/mp4
  • Use: Watch Online & Download
  • Access Period: Unrestricted
  • Download: MP4 (iPod compatible)
  • Size: 131 MB
  • Posted: 07/01/2009

This lesson is part of the following series:

Biology Course (390 lessons, $198.00)
Biology: Final Exam Test Prep and Review (42 lessons, $59.40)
Biology: Biotechnology (16 lessons, $23.76)
Biology: Human Genome Project (3 lessons, $5.94)

Taught by Professor George Wolfe, this lesson was selected from a broader, comprehensive course, Biology. This course and others are available from Thinkwell, Inc. The full course can be found at The full course covers evolution, ecology, inorganic and organic chemistry, cell biology, respiration, molecular genetics, photosynthesis, biotechnology, cell reproduction, Mendelian genetics and mutation, population genetics and mutation, animal systems and homeostasis, evolution of life on earth, and plant systems and homeostasis.

George Wolfe brings 30+ years of teaching and curriculum writing experience to Thinkwell Biology. His teaching career started in Zaire, Africa where he taught Biology, Chemistry, Political Economics, and Physical Education in the Peace Corps. Since then, he's taught in the Western NY region, spending the last 20 years in the Rochester City School District where he is the Director of the Loudoun Academy of Science. Besides his teaching career, Mr. Wolfe has also been an Emmy-winning television host, fielding live questions for the PBS/WXXI production of Homework Hotline as well as writing and performing in "Football Physics" segments for the Buffalo Bills and the Discover Channel. His contributions to education have been extensive, serving on multiple advisory boards including the Cornell Institute of Physics Teachers, the Cornell Institute of Biology Teachers and the Harvard-Smithsonian Center for Astrophysics SportSmarts curriculum project. He has authored several publications including "The Nasonia Project", a lab series built around the genetics and behaviors of a parasitic wasp. He has received numerous awards throughout his teaching career including the NSTA Presidential Excellence Award, The National Association of Biology Teachers Outstanding Biology Teacher Award for New York State, The Shell Award for Outstanding Science Educator, and was recently inducted in the National Teaching Hall of Fame.

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Have you guys ever seen the movie, "The Graduate"? I've got to tell you it's one of my all time favorite movies. In that movie is one of my all time favorite scenes. Here's Dustin Hoffman. He just graduated from college. He has no clue what he wants to do with his life. That may sound familiar to some of you. Well, Dustin is at a party that his father's giving in his honor, and along comes some of his father's rather wealthy friends. They're sitting by the poolside and one of them walks up to Dustin and says, "Son, I have one word for you." Dustin looks at him. The guy looks at Dustin and says, "Plastics." Now, that may not sound like that ought to be anybody's favorite scene, but it was hysterical at the time. It was a long time ago. But here's the thing. If I were reshooting that movie for the millennium, I would change that. I'd put the whole scene the same, but when the friend came over to Dustin, here's what I'd say. I'd say, "Son, I have one word for you--bioinformatics or proteomics." Well, you're probably saying, "Well, why would you change this? Why is this significant? The key is this relates to something called the Human Genome Project.
We've got to go back in time to 1980's and a guy you may have heard of, a guy named James Watson who was put in charge of starting to develop the human genome project. What is the human genome project and why is everybody making such a big fuss out of it? Let's talk a little bit about the central dogma of biology. Remember that? It's very simple. DNA makes RNA, RNA makes protein, and proteins run the cell. So if proteins are running the cell, just think about that. Think backwards. If proteins are running the cell, and RNA makes proteins, and DNA makes RNA, it's so clear then that DNA runs the cell. We've known this for years. Why has it taken until the year 2000 to come up with this great big human genome answer?
Well, here's the thing. The whole idea of the central dogma does answer the how of how a cell works, but it doesn't tell the details of the code. What's hidden in that DNA code? What's hidden in that DNA sequence? That's the key of the human genome project. Just think about it. If you can read DNA--like a book--if you can read it, you're going to have the secret to not only what it is to be human, but what it is to be you. That's right, what it is to be you.
But we've got to back up a bit. Let's review a little bit about the molecular biology of DNA as unraveled by Watson and Crick back in the early 1950's. They found out that DNA was this simple molecule. Why simple? Well, it was a double helix and it consisted of only four basic units--four letters, if you will, four nucleotides. We represent these nucleotides with these letters--the letter A, the letter T, the letter C, and the letter G. See, it's not these letters that are important because there's only four of them, but it's the sequence of these letters that even Watson and Crick back in the `50's realized was the key to the uniqueness of the individual. You see, there it is--the key, the secret, the code to DNA. Once we have that code, we have you. We have the secret to what you are. It will be your genes. You've heard the term "genes." Genes are supposedly what give you your physical abilities, thus the word "genome." The human genome project is to unravel the human gene.
So where have we come since the 1950's when Watson and Crick figured this out for the first time? Well, let's just start with what we realize are the sheer numbers of DNA. Are you ready for this? ATG&C. How many do you think there are in every cell of your body? Not in your whole body, but in every cell of your body? In every cell of your body there are three billion nucleotides. That's right. Three billion in every cell. Think of the billions of cells you have and you start to get a feeling for numbers. Let's talk about those numbers. We throw around the term "billions," what does that mean? How many telephone books do you think you could fill up with three billion letters? I'm not talking about like the telephone books that are this thick. Let's go with a big New York City sized phone book. Ten of those? Twenty? Maybe a hundred? Two hundred. It would take 200 telephone books to put three billion letters in.
You're not impressed with telephone books? Let's take a look at another analogy. I've got a puzzle for you guys. Let's just say that this one cup of water equals one nucleotide out of the three billion nucleotides in the human genome. One cup; one nucleotide. Let's just say that this water all around me represents a small portion of the human genome pool. Get it? So we've got one cup of water equals one nucleotide. Here's my question: Estimate how many pools will three billion nucleotides, cups, fill up? How many pools? Guess. You probably need a hint because you don't know how big this pool is. Here's my hint. This pool holds about 1,700 gallons of water, and one gallon equals 16 cups. Do the math. Okay, good. Did you come up with over 100,000 pools? Now are you getting a feel for the number three billion and how many nucleotides that must be? So now the question is going to be this: How do we sequence nucleotides?
Generally, in our research we've used two techniques. Both are very similar and both use the basic Sanger technique. We're going to get a typical human being--whoever that may be--we're going to take one of their cells and we're going to take their DNA and chop it up with restriction enzymes. We're going to run these fragments through a gel--remember that Sanger technique--and now we're going to tie in some computers. We're going to read those gels and we're going to figure out the sequence of that DNA. There's going to be times when there's going to be overlaps, and that's the key. So if the computer is reading a sequence of DNA right here, and it's reading another sequence of DNA right here, and this sequence down at the bottom is similar to this sequence up at the top, we can assume that they are one in the same and we've been able to piece two hunks of genome, if you will, together, and thus the beginning of the genome project. Give it a whole lot of reading, give it ten years maybe, 15 years, you've got the human genome.
Well, all of that being said, we've got the secret, right? That's it. The secret is there. We have it all unraveled, so we're done. No, we're not done, and that's where the bioinformatics is going to come in. Let me tell you something. You, the person next to you, and people all over this planet--I don't care, they could be on the other side of the world. About 99.9 percent of your DNA is identical to theirs. Now, for those of you who feel genetically superior, do you really want to base that genetic superiority on that .1 percent? Are you confident enough to do that? On the other hand, just think about this--me and Albert Einstein, we only have .1 percent of our DNA different. That feels kind of good, doesn't it?
Anyway, taking the DNA from this typical human was a great idea and 99.9, that's a good thing. But here's the whole monkey wrench problem. You know all three billion of those nucleotides? Guess what? About 96 percent of it is useless junk. Only about 3 to 5 percent of your DNA works, is functioning. Think of the implications of that. Imagine an encyclopedia where we took all the words, we threw them together, no punctuations, no commas, no capitals, nothing, and I said, "Read that encyclopedia. Oh, but wait. I have to throw in some other words. In fact, for about every three or four words, I'm going to throw in 95 or 96 junk words that are meaningless." Are you going to be able to read that encyclopedia? Well, that's what we're attempting to do with the human genome project. We're going to read that encyclopedia. And now you're saying, "Why bother? Why is this important?" There are implications to this that are just unbelievably far-reaching.
Let's look at something like human disease. When we had diseases that ran in families we had one way to analyze them, if you will, through family histories, through what we call "pedigree charts," and then once we found out that we ran in a family we did linkage studies to find out what chromosome it was on and where on that chromosome it was. But now that we're going to have the human genome all outlined, we can do some other things. Let me give you an example. There's a gene that's implicated in colon cancer. It's called the MLH1 gene. Now, we know where it is because of linkage studies, we know it runs in families, but what good does that do us? But if we know where it is on a chromosome and we know the sequence of the DNA on that chromosome, think about this--now that we know the DNA sequence, we can figure out the RNA sequence. And once we know the RNA sequence, we can figure out the amino acids that are going to go into the protein that comes from that MLH1 gene, the protein that's implicated in colon cancer. If we can now find that protein in another organism or even make it ourselves, we can mess with the protein, we can turn the protein off. We can, in essence, cure a genetic disease by treating the protein that causes it. Amazing.
Sadly, it's not always that simple. A lot of diseases are what we called "polygenic," many genes. Diseases like schizophrenia and autism are seen to run in families. They may have 10 or 15 different sites where the gene may be implicated. Behavior disorders--who knows how many times we're going to have to look for genes in behavior disorders and where those genes are going to be. But nevertheless, I want you to understand something--this human genome project is on a roll, and it's going to go fast, and it's going to be controversial. Why controversial?
Now, there's a good question. How could there be ethical dilemmas about knowing the human genome? Who owns a gene? What about a company that just spent millions of dollars researching a gene and sequencing it? Shouldn't they have a patent on that gene? Or should anyone own a gene? Should a company own a gene? Well, do companies own penicillin, a gene product? That's interesting. How about this? How about insurers? If you were a health insurance company would you want to spend your money--would you want to insure someone who you know has a 25 percent change of passing a fatal gene on to their child and the enormous cost of medication and hospitalization for that child? Are we entering a dawn of the age of genetic discrimination? Are we about to start discriminating against people because of their genetic profile, or maybe, just maybe, are we on the verge of realizing that, gee whiz, no matter what your ethnic background is, no matter what your race is, no matter what your skin color is, we're only .1 percent different. You know what the answers to those questions are? Well, if you know, you're better than me, because I don't, but it's going to get interesting, so stay tuned.
Human Genome Project
The Human Gene Pool Page [1 of 3]

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