Introduction to Evolutionary Conservation
From Proteopedia
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Revision as of 23:09, 30 September 2012
Mutations occur spontaneously in each generation, randomly changing the amino acid sequences of proteins. Individuals with mutations that impair critical functions of proteins may have resulting problems that make them less able to reproduce. Harmful mutations are lost from the gene pool because the individuals carrying them reproduce less effectively. Over time, only harmless (or very rare beneficial) mutations are maintained in the gene pool. This is evolution.
Examples
Consider the protein methyl CpG binding protein 2 (MeCP2; 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[1]. Some mutations in MeCP2 cause Rett Syndrome, a severely debilitating condition affecting mostly women.
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Effect of mutation on protein function |
Genetic consequence |
Example |
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Function LOST** |
CONSERVED:
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R133C* |
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None |
NOT conserved:
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E143?* |
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* in methyl CpG binding protein 2 (MeCP2),
3c2i. Amino acid sequence in 1 letter code:
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Locations of Mutations
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Notes and References
- ↑ MECP2 article in the National Library of Medicine's Genetic Home Reference
