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Introduction to Evolutionary Conservation

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Consider the protein methyl CpG binding protein 2 (MeCP2). 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.
Consider the protein methyl CpG binding protein 2 (MeCP2). 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.
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<!-- ================================================================= -->
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<table border=1 bgcolor="#b0ffff" cellpadding='8' width='100%'><tr><td>
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<big>
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&nbsp; &nbsp;
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V.
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Introduction to Multiple Sequence Alignment (MSA) and Conservation
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<br> &nbsp; &nbsp;
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ConSurf Server
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<br> &nbsp; &nbsp;
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Structure of Atomic Coordinate ("PDB") Files
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</td></tr></table>
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 +
<ol start=21>
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<li><b>
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<a href="http://www.proteopedia.org/wiki/index.php/Conservation%2C_Evolutionary"
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target="_blank">Evolutionary conservation</a>
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identifies functional sites in protein molecules</b>.
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<center><br><table border="1" cellpadding="6">
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<tr>
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<td>
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Effect of <b>mutation</b> on protein function
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</td>
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<td>
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Genetic consequence
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</td>
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<td>
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Example
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</td>
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</tr>
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<tr>
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<td>
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Function LOST**
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</td>
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<td>
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<font color="c000a8"><b>CONSERVED:</b></font>
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<br>
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mutation LOST from gene pool
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</td>
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<td>
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<b><font color="c000a8">R133</font>C*</b>
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</td>
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</tr>
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<tr>
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<td>
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None
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</td>
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<td>
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<font color="00a0a0"><b>NOT conserved:</b></font>
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<br>
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mutation remains in gene pool
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</td>
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<td>
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<b><font color="00a0a0">E143</font>?*</font>
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</td>
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</tr>
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<tr>
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<td colspan="3">
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* in methyl CpG binding protein 2 (MeCP2),
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<a href="http://www.proteopedia.org/wiki/index.php/3c2i"
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target="_blank"><b>3c2i</b></a>:
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<br><br>
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<big><tt><font color="gray">&nbsp;&nbsp;&nbsp;ASASPKQRRS IIRD</font>RGPMYD
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DPTLPEGWTR KLKQRKSGRS AGKYDVYLIN
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<br>
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&nbsp;&nbsp;&nbsp;PQGKAF<font color="c000a8"><b>R</b></font>SKV
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ELIMYF<font color="00a0a0"><b>E</b></font>KVG DTSLDPNDFD
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FTVTGR<font color="gray">GSPS RHHHHHH</font>
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<br>
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&nbsp;&nbsp;&nbsp;
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&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;^
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&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;^
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</tt></big>
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<br>
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** R133C causes
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<a href="slides/rett/rett.htm"
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target="_blank">Rett syndrome,</a>
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a severe neurological disorder.
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<br>
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<font color="gray">Gray: disordered in crystal, absent in model 3c2i.</font>
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</td>
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</tr>
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</table></center>
==Notes and References==
==Notes and References==
<references />
<references />

Revision as of 22:20, 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). 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. 

   

V. Introduction to Multiple Sequence Alignment (MSA) and Conservation
    

 ConSurf Server


    

 Structure of Atomic Coordinate ("PDB") Files

</td></tr></table>

  1. <a href="http://www.proteopedia.org/wiki/index.php/Conservation%2C_Evolutionary" target="_blank">Evolutionary conservation</a> identifies functional sites in protein molecules.

    Effect of mutation on protein function

    Genetic consequence

    Example

    Function LOST**

    CONSERVED:
    mutation LOST from gene pool

    R133C*

    None

    NOT conserved:
    mutation remains in gene pool

    E143?*</font> </td> </tr>

    • in methyl CpG binding protein 2 (MeCP2),

    <a href="http://www.proteopedia.org/wiki/index.php/3c2i" target="_blank"><b>3c2i</a>:

       ASASPKQRRS IIRDRGPMYD DPTLPEGWTR KLKQRKSGRS AGKYDVYLIN
       PQGKAFRSKV ELIMYFEKVG DTSLDPNDFD FTVTGRGSPS RHHHHHH
             ^          ^

      • R133C causes

    <a href="slides/rett/rett.htm" target="_blank">Rett syndrome,</a> a severe neurological disorder.
    Gray: disordered in crystal, absent in model 3c2i.

    Notes and References

    1. ↑ MECP2 article in the National Library of Medicine's Genetic Home Reference

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