quote:Data on replacement mutations in genes of disease patients exist in a variety of online resources. In addition, genome sequencing projects and individual gene sequencing efforts have led to the identification of disease gene homologs in diverse metazoan species. The availability of these two types of information provides unique opportunities to investigate factors that are important in the development of genetically based disease by contrasting long and short-term molecular evolutionary patterns. Therefore, we conducted an analysis of disease-associated human genetic variation for seven disease genes: the cystic fibrosis transmembrane conductance regulator, glucose-6-phosphate dehydrogenase, the neural cell adhesion molecule L1, phenylalanine hydroxylase, paired box 6, the X-linked retinoschisis gene and TSC2/tuberin. Our analyses indicate that disease mutations show definite patterns when examined from an evolutionary perspective. Human replacement mutations resulting in disease are overabundant at amino acid positions most conserved throughout the long-term history of metazoans. In contrast, human polymorphic replacement mutations and silent mutations are randomly distributed across sites with respect to the level of conservation of amino acid sites within genes. Furthermore, disease-causing amino acid changes are of types usually not observed among species. Using Granthamâ€™s chemical difference matrix, we find that amino acid changes observed in disease patients are far more radical than the variation found among species and in non-diseased humans. Overall, our results demonstrate the usefulness of evolutionary analyses for understanding patterns of human disease mutations and underscore the biomedical significance of sequence data currently being generated from various model organism genome sequencing projects. https://academic.oup.com/hmg/article/10/21/2319/2901538
From the paper itself:
quote:hus, as with our analysis of the frequencies of different amino acid changes, we only analyzed amino acid changes among species that could have been the result of a single nucleotide mutation and scored each type of amino acid change seen at a site once to account for the residue’s common ancestry within a phylogenetic lineage. In the cases of CFTR and TSC2, we further analyzed the observed polymorphic amino acid changes in humans. From the chemical distance scores, we used a non-parametric Kruskal–Wallace test to determine if significant overall differences existed among the sets of human and interspecific amino acid changes. Scores for CFTR and TSC2 were further subjected to Mann–Whitney U tests post hoc to determine where the significant differences lie among the disease associated, human polymorphic, and interspecific scores. This same procedure was used for comparisons of type I mutations, types II, III and IV mutations and interspecific mutation scores in G6PD. These analyses were conducted using SPSS 10.0 (SPSS Inc, 1999).
Overall, our results demonstrate the usefulness of evolutionary analyses for understanding patterns of human disease mutations
Fine, but that’s not what I asked for. What you need to do is explain how common ancestry has proven useful in a practical application. For example, demonstrate how accepting the “information” that humans and chimps share a common ancestor is necessary for any practical application of biology. Your post doesn’t do that. It didn’t work the first time you offered it and … surprise, surprise … it didn’t work this time either. You appear to be a slow learner.
as with our analysis of the frequencies of different amino acid changes, we only analyzed amino acid changes among species that could have been the result of a single nucleotide mutation and scored each type of amino acid change seen at a site once to account for the residue’s common ancestry within a phylogenetic lineage.
This is not a practical use - it is merely theorising about common ancestry - completely useless speculation, in other words. Evidently, you don’t know the difference between a useless theory and a practical use.
Do you contend that the scientific field of evolution only involves UCA? Are there no other practical links between evolution and biology? As an example, is it your contention that mutation has no effect on biology? Is it your contention that mutation in bacteria and viruses can never have an effect on your personal biology function?
The bad news is, you have descended into a cesspit of strawmanism, extreme silliness and embarrassing fatuity. Please be advised that this display does nothing for your credibility as someone with intelligence.
The good news is, you have at least conceded that your Darwinist bedtime story is scientifically irrelevant.