Introduction to Evolutionary Conservation: Difference between revisions

Consider the protein methyl CpG binding protein 2 (MeCP2; [http://www.uniprot.org/uniprot/P51608 UniProt MECP2_HUMAN]). Although its function is still unclear, it is expressed throughout the body, and disruption of its function causes problems with brain development and function<ref name="ghr">[http://ghr.nlm.nih.gov/gene/MECP2 MECP2 article] in the ''National Library of Medicine's Genetic Home Reference''</ref>. Some mutations in MeCP2 cause [http://workshops.molviz.org/slides/rett/rett.htm Rett Syndrome], a severely debilitating condition affecting mostly women. These women are unlikely to have children; hence, the mutations in their MeCP2 genes are lost from the human gene pool. Because the mutations are lost, the amino acids at the mutated positions remain unchanged (identical) in the vast majority of people. That is, they are conserved.