Mutations not found in gene variants

Map of how DNA controls cells may boost gene therapies

  • 18:00 26 March 2014 by Michael Slezak

Excerpt: “…mutations linked to disease occur more often in the DNA responsible for the enhancers and promoters than in the gene variants themselves. Geneticist Thomas Preiss of the Australian National University in Canberra, who is not involved in the FANTOM collaboration, says this knowledge “breathes new life” into GWAS because until now researchers only knew how to interpret the results if the identified mutation was in the gene variant. He describes the map as a profound new understanding of enhancer and promoter function.

My comment: Why are mutations that are not found in genes still called mutations? In any case, ecological variations are more likely to contribute to differences in enhancer and promotor functions that differentiate the cell types in individuals of different species. That fact suggests any profound new understanding of how differences in cell types arise will come from scientists who refuse to keep referring to ecological adaptations as if they were mutations.

I’m not the only one who recognizes the importance cell surface glycosylation to the differentiation of typical and atypical cell types. But sometimes I think I may be the only one who is willing to challenge the misrepresentations of others who would rather continue touting theories about mutations than discuss how to avoid them and the diseases or disorders they cause.

That reminds me of a joke (although mutations not found is not a joking matter):

Three scientists walked into a bar. A physicist began discussion of quantum physics and energy-dependent  base pair changes in DNA. A chemist added insight about physical constraints on  base pair changes that involve chemical bonds, which are required to facilitate ecological adaptations. The biologist confirmed that ecological variation results in nutrient-dependent pheromone-controlled ecological adaptations based on the role of SNPs in amino acid substitutions that differentiate the cell type of all individuals in all species.  An evolutionary theorist who had walked into the bar earlier  told the physicist, chemist, and biologist that mutations cause species diversity. The evolutionary theorist is the joke.

Author: James Kohl

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