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