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Comment actions and interactions (Score 1) 128

The human genome is an imense piece of work. There is a huge amount of data available and each gene requires a huge amount of time to find and verify. The plant genome, Arabidopsis thaliana, was completed late 2000 and still 80% of the 25,000 genes are unproven, they may look right to the bioinformaticians and gene modellers, but real laboratory scientists are needed to verify that this really is the right gene. This takes at least 3 years of postgrad work, to characterise the gene, and a possible function. This is even before you start trying to characterise a mutation. A mutation might be a small change in the sequence, a substitution of one of the bases in the DNA which produces a very subtly different protein. Alternatively the mutation may occur in other sequences close to the gene that will cause the gene to behave differently, very subtle changes in the promoter and enhancer elements. These may take many man months or years to identify. These changes are gross and ugly within the maze of complex interactions that are cells. One very small change in an upstream element may mean that two molecules do not interact at quite the right time following exposure to a certain toxic chemical. This means that another protein isn't activated which doesn't induce a phosphorylation cascade that interacts with another pathway and causes a major response. Things are too complicated at the moment for anyone to understand. Mendelian genetics is within the grasp of everyone, mutant genes make mutant proteins and things either happen or not. What the scientists can't work on, except in a few rare cases, is where proteins interact in complex manners and where a large number of proteins complex together. How does a tiny genetic change affect anything... can this be traced. Which proteins are affected. If there are ~60,000 proteins in the soup we affectionately call our cells how can the exact pattern of changes be followed? Computers can solve some of these questions - who has the most powerful computers in the world? To really answer these questions many millions of man hours will be needed to characterise each pathway and interaction in detail. Scientists are trying this in yeast, a very simple cell, and the amount of background junk that is always present because naturally certain surfaces will always bind - makes the whole subject rather difficult and complicated. Single genes in breast cancer, colour blindness and other "simple" diseases will be characterised, and the affected people will be treated, cured, or otherwise helped (this is why pharma is interested). Complicated cancers, emotional states and orientations, attitudes, and polygenic traits will remain a very difficult problem for many many years. Add to this the subtleties and nuances of small changes in the regulation of a single protein and the whole picture becomes very complicated, and in my opinion can never be solved completely. There are too many variables in the environment for all possible stimuli and variables within the cell to be understood... I fear the abuse of our sequences by insurance companies, who will tax us for what may be incorrectly described, published and understood. I fear the abuse of our sequences by companies who patent the genes, and patent the cures to expensive chemicals that can cure our cancers, diseases and mental problems. I am not who I am because of my genes. They make me tall, male, blue eyed. Am I fat because of my genes, am I predisposed to working in front of a computer, liking whisky, enjoying airsports .... I don't know and I don't believe anyone who believes that they know so !

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