Evolutionary Biology Assignment on Protein Conservation

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Explain how comparison of the primary structure of a protein from different organisms can be used to deduce the evolutionary relationships between them (18.44). Protein coding genes, which represent just 1% of the genomic sequence, contain most of the known DNA sequence variants that have been linked to disease (Kumar, Dudley, Filipski, and Liu, 2011). Many of these variants occur in non-coding sequence, but an estimated 6,000 to 10,000 variants alter protein sequence and more than a thousand have been linked to major diseases. In addition to these heritable variants, somatic and germline mutations have been found to be associated with increased cancer susceptibility and the mitochondrial genome contributes thousands of variants of its own. Although the genetic information pouring in from research efforts are able to identify DNA variants that alter protein sequence, taking this information and translating it into a functional explanation for disease susceptibility is quite another matter (Kumar, Dudley, Filipski, and Liu, 2011). Since laboratory studies cannot replicate the natural environment within which these potentially functional variants arise and therefore may produce misleading results, researchers have turned to the growing body of phylogenetic information, which represents a natural laboratory that has been running experiments for millions of years. Highly conserved amino acids tend to be required for protein function, because they are required for an

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