I've tried to make this accessible, so I'll need double forgiveness. My medical school readers, pardon me for explaining what DNA does... again. I know you're paying attention in MoBio. For my non-med school readers, I apologize for all the jargon I don't know is jargon. If anything is unclear, please tell me so I can remember how normal humans talk outside of the kingdom of Medschoolandia.
I know it's long, but comments would be much appreciated.]
Introduction
As you probably know DNA is our code. We used to think that DNA only coded for protein. Proteins are the machines in our cells which do everything from contract our muscles to filtering our blood and everything in between. We have about 25,000 proteins encoded in our body to do every conceivable function. The strange part is that these protein coding sequences are only a few percent of the total genome. The mystery thirty years ago was: why do we have a 3 billion-letter code when we only need 60 million for proteins?
History Lesson
The initial answer came from the theory of evolutionary. If we evolved by random and accidental processes, it is reasonable to believe that seemingly useless codes are actually useless, vestigial organs or genetic fossils. If there were no designer concerned about the elegance and efficiency of his code, then one ought not expect elegance.
This was formally postulated in the early years of DNA sequencing. This view was first offered by Susuma Ohno who wrote in a 1972 article titled So Much ‘Junk DNA’ in our Genome, “Our view is that [junk DNA segments] are the remains of nature’s experiments which failed. The earth is strewn with fossil remains of extinct species; is it a wonder that our genome too is filled with the remains of extinct genes?”
This was the dogma for almost three decades. Searching the literature (ISI Web of Knowledge; a database of most of the peer-reviewed science writing) for the phrase “Junk DNA,” one finds it used initially in 1972, then used throughout the 80’s and 90’s. Scientists built their theories on it and operated under the assumption that the ‘junk’ was useless.
The first explicit attack on the Junk DNA notion wasn’t from a biologist (who, above all else, seemed terrified of boat-rocking), but a cryptographer named Simon Shepherd. He figured, “nature would not go to all that trouble [to copy junk DNA] without reason.” In 1993, he used signal analysis to guess at a purpose for junk DNA. His conclusion, with absolutely no background in biology and analyzing only sections of the genome (the human genome project wasn’t finished yet), was that the non-coding sections between genes was an error correcting code making sure that proteins came out properly (The cryptographer who took a crack at 'junk' DNA. New Scientist, 26 June 1993; it turns out that he correctly guessed one of the purposes of it). Though significant historically speaking, the journal he published in doesn’t have much say in where science goes.
Quiet support for the theory of useful junk built up in the late 80’s and early 90’s, but no one openly and seriously challenged the term ‘junk DNA,’ at least not in the scientific literature. Then finally in 1994 a pair of articles in Science challenged, for the first time in the mainstream scientific literature, the notion of Junk DNA (“Mining Treasure from ‘Junk DNA,’” Vol. 263, No. 5147 pp. 608-610 published in February and “Hints of a Language in Junk DNA,” Vol. 266. no. 5189, p. 1320 published in November). In the earlier article, several possible functions of non-coding DNA were suggested by reputable researchers, (who published their work without using the term ‘junk DNA’). The article concludes with this: “Enough gems have already been uncovered in the genetic midden to show that what was once thought to be waste is definitely being transmuted into scientific gold.” The latter article concludes with a quotation from the Harvard biologist Walter Gilbert, “I think what we call ‘junk DNA’ will have a number of uses.”
1994 was the year the dam broke. Once there was mainstream support for “Junk DNA,” biologists jumped right on the bandwagon. Once Science said it was OK to say that Junk DNA had a purpose, many articles were published to that effect. Throughout the 90’s and into the new millennium, people began to find role after role for junk DNA. Everyone was bashing Junk DNA starting 1994 and lasting a decade. Here is a brief history of article titles throughout the years:
1972 - “So Much ‘Junk DNA’ in our Genome,” Brookhaven Symposium on BioLOGY
1986 - “’Computer Genome’ Is Full of Junk DNA,” SCIENCE
1994 - “Hints of a Language in Junk DNA” SCIENCE,
1998 - “Should scientists scrap the notion of junk DNA?,” J. NAT’L CANCER INSTITUTE
Lessons Learned?
And that is the story on Junk DNA. So let us continue our discussion by looking at what got us into this mess to begin with: a bad theory. The bad theory was that we arose by a sloppily process. We theorized that the mechanism by which we came about was a messy one with a lot of errors and inefficiencies. It has turned out that this, at least when it comes to DNA, was simply and clearly wrong.
When we see a genetic code, let’s not dismiss the 97% of the code as ‘junk’ when we don’t understand it. When we see a new protein, we ought to first assume it is part of an elegant system, not a useless piece of trash left over by an idiotic process. When we see an organ that we don’t understand, instead of first assuming a useless piece of flesh handed down by a process too stupid to take it out, let us be agnostic on its purpose and encourage ambitious scientists to try to figure it out. We have asserted our assumption when there is no data. We’ve pointed at the poor little organ and, for a century, shouted at it, “Useless!” I wouldn’t work under those conditions either.
It’s a good thing Duke researchers are leading the way by rejecting the old theory, or at least behaving like they did. Last year, they showed that the appendix has a useful role in repopulating good bacteria in the intestines and may be important in surviving intestinal diseases like Cholera (Hampton, T. A Use for the Appendix? JAMA. 2007; 298(21):2474).
You may think that all this talk about theories is simply an academic point, that we can agree to disagree, and that you can believe your way and I mine. But this is truly a life-and-death issue.
There was a huge reluctance to spend time or money studying non-coding DNA because of the assumption that it was junk. It turns out now that many diseases are actually caused by mutations in non-coding DNA. We can now do genetic counseling preventing transmission and are beginning to develop treatments. But this has only happened very recently because, until about a decade ago, we were still comfortable in our assumption that non-coding DNA was useless. The same goes for the appendix; 321,000 Americans were hospitalized in 2005 because of the appendix. How many lives may have been saved if we tried to figure out how the organ worked fifty years ago instead of dismissing it as another mistake by our sloppy friend evolution? How many people have died because of our stubbornness in clinging to a bad scientific theory?
Even if we were to assume atheistic evolution, I'm only suggesting that maybe we don't know who evolution really is, deep down. Maybe it is a process misunderstood. We may look at a man's desk and say he is sloppy and stupid, but that man may turn out to be a genius whose brilliance is hidden under a messy desk. Maybe, just maybe, evolution is that genius. We should, upon seeing the brilliance of evolution, reject the notion of it being stupid and embrace and even expect its genius.


