"Junk DNA" or regions of DNA that do not code for a protein comprise 98% of the human genome. These regions of non-coding DNA are not understood nearly as clearly as the coding regions are. A large amount of this non-coding DNA serves no biological purpose. Studies now show that mutations within this 98% of misunderstood DNA can cause cancers and other diseases.
A research team used known genetic variants and information regarding non-coding DNA to be able to pick out regions of DNA that did not vary much comparatively. Variation in the non-coding regions was similar to that of the protein transcribing regions: both areas showed very low variation. They took these low varying regions of non-coding DNA, called ultrasensitive regions, and manipulated single base pairs. They took note of the base pairs that caused the most drastic disturbance or difference in the human body.
A computer program caused FunSeq was created to incorporate all of this information regarding non-coding and low variability regions of DNA and is able to determine which alterations in the non-coding DNA sequence has the most detrimental impact on the human body. FunSeq was applied to study the genomes of different cancers. The result of this study was the finding of approximately 100 regions of non-coding DNA that if mutated, can cause different cancers.
What I found very interesting about this study was that the human genome, being so exponentially large, is so very misunderstood. This article stated that it was found that a single base pair alteration in one of the non-coding, ultrasensitive regions of DNA can cause breast cancer to develop. One single base pair. I find this incredible. From this point on, the non-coding regions of DNA are no longer considered to be "junk" but very important to the study of certain diseases and mutations.
http://www.sciencedaily.com/releases/2013/10/131003142321.htm
http://www.news-medical.net/health/Junk-DNA-What-is-Junk-DNA.aspx
I feel like the the genome is large and that's why its misunderstood. Tapping into the human genome is like going into space or the deep sea. There is a lot known and so so so much more that is unknown. The systems within the genome are so complex I don't blame geneticists for focusing on the ones that actually code, but studying these misunderstood genes could lead to some enlightening discoveries.
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