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.

About James V. Kohl 1308 Articles
James Vaughn Kohl was the first to accurately conceptualize human pheromones, and began presenting his findings to the scientific community in 1992. He continues to present to, and publish for, diverse scientific and lay audiences, while constantly monitoring the scientific presses for new information that is relevant to the development of his initial and ongoing conceptualization of human pheromones. Recently, Kohl integrated scientific evidence that pinpoints the evolved neurophysiological mechanism that links olfactory/pheromonal input to genes in hormone-secreting cells of tissue in a specific area of the brain that is primarily involved in the sensory integration of olfactory and visual input, and in the development of human sexual preferences. His award-winning 2007 article/book chapter on multisensory integration: The Mind’s Eyes: Human pheromones, neuroscience, and male sexual preferences followed an award winning 2001 publication: Human pheromones: integrating neuroendocrinology and ethology, which was coauthored by disinguished researchers from Vienna. Rarely do researchers win awards in multiple disciplines, but Kohl’s 2001 award was for neuroscience, and his 2007 “Reiss Theory” award was for social science. Kohl has worked as a medical laboratory scientist since 1974, and he has devoted more than twenty-five years to researching the relationship between the sense of smell and the development of human sexual preferences. Unlike many researchers who work with non-human subjects, medical laboratory scientists use the latest technology from many scientific disciplines to perform a variety of specialized diagnostic medical testing on people. James V. Kohl is certified with: * American Society for Clinical Pathology * American Medical Technologists James V. Kohl is a member of: * Society for Neuroscience * Society for Behavioral Neuroendocrinology * Association for Chemoreception Sciences * Society for the Scientific Study of Sexuality * International Society for Human Ethology * American Society for Clinical Laboratory Science * Mensa, the international high IQ society