Rett Syndrome Protein - Revision history

http://52.214.119.220/wiki/index.php?action=history&feed=atom&title=Rett_Syndrome_Protein Rett Syndrome Protein - Revision history 2026-04-10T04:42:51Z Revision history for this page on the wiki MediaWiki 1.11.2 http://52.214.119.220/wiki/index.php?title=Rett_Syndrome_Protein&diff=3143675&oldid=prev Michal Harel at 11:21, 16 January 2020 2020-01-16T11:21:03Z

<p></p> <table style="background-color: white; color:black;"> <col class='diff-marker' /> <col class='diff-content' /> <col class='diff-marker' /> <col class='diff-content' /> <tr> <td colspan='2' style="background-color: white; color:black;">←Older revision</td> <td colspan='2' style="background-color: white; color:black;">Revision as of 11:21, 16 January 2020</td> </tr> <tr><td colspan="2" class="diff-lineno">Line 1:</td> <td colspan="2" class="diff-lineno">Line 1:</td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>==Rett Syndrome Protein==</div></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>==Rett Syndrome Protein==</div></td></tr> <tr><td class='diff-marker'>-</td><td style="background: #ffa; color:black; font-size: smaller;"><div><StructureSection load='3C2I' size='340' side='right' caption='Human MeCP2 MBD domain complex with DNA (PDB code [[3c2l]])' scene=''></div></td><td class='diff-marker'>+</td><td style="background: #cfc; color:black; font-size: smaller;"><div><StructureSection load='3C2I' size='340' side='right' caption='Human MeCP2 MBD domain complex with DNA <ins style="color: red; font-weight: bold; text-decoration: none;">and CMP derivative </ins>(PDB code [[3c2l]])' scene=''></div></td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"></td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"></td></tr> </table>

Michal Harel http://52.214.119.220/wiki/index.php?title=Rett_Syndrome_Protein&diff=3143674&oldid=prev Michal Harel at 11:19, 16 January 2020 2020-01-16T11:19:57Z

<p></p> <table style="background-color: white; color:black;"> <col class='diff-marker' /> <col class='diff-content' /> <col class='diff-marker' /> <col class='diff-content' /> <tr> <td colspan='2' style="background-color: white; color:black;">←Older revision</td> <td colspan='2' style="background-color: white; color:black;">Revision as of 11:19, 16 January 2020</td> </tr> <tr><td colspan="2" class="diff-lineno">Line 1:</td> <td colspan="2" class="diff-lineno">Line 1:</td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>==Rett Syndrome Protein==</div></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>==Rett Syndrome Protein==</div></td></tr> <tr><td class='diff-marker'>-</td><td style="background: #ffa; color:black; font-size: smaller;"><div><StructureSection load='3C2I' size='340' side='right' caption='<del style="color: red; font-weight: bold; text-decoration: none;">Caption for this structure</del>' scene=''></div></td><td class='diff-marker'>+</td><td style="background: #cfc; color:black; font-size: smaller;"><div><StructureSection load='3C2I' size='340' side='right' caption='<ins style="color: red; font-weight: bold; text-decoration: none;">Human MeCP2 MBD domain complex with DNA (PDB code [[3c2l]])</ins>' scene=''></div></td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"></td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"></td></tr> </table>

Michal Harel http://52.214.119.220/wiki/index.php?title=Rett_Syndrome_Protein&diff=3033723&oldid=prev Morgan Dillon at 19:16, 24 April 2019 2019-04-24T19:16:48Z

<p></p> <table style="background-color: white; color:black;"> <col class='diff-marker' /> <col class='diff-content' /> <col class='diff-marker' /> <col class='diff-content' /> <tr> <td colspan='2' style="background-color: white; color:black;">←Older revision</td> <td colspan='2' style="background-color: white; color:black;">Revision as of 19:16, 24 April 2019</td> </tr> <tr><td colspan="2" class="diff-lineno">Line 1:</td> <td colspan="2" class="diff-lineno">Line 1:</td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>==Rett Syndrome Protein==</div></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>==Rett Syndrome Protein==</div></td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div><StructureSection load='3C2I' size='340' side='right' caption='Caption for this structure' scene=''></div></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div><StructureSection load='3C2I' size='340' side='right' caption='Caption for this structure' scene=''></div></td></tr> <tr><td class='diff-marker'>-</td><td style="background: #ffa; color:black; font-size: smaller;"><div>This is a default text for your page '''Rett Syndrome Protein'''. Click above on '''edit this page''' to modify. Be careful with the &lt; and &gt; signs.</div></td><td colspan="2"> </td></tr> <tr><td class='diff-marker'>-</td><td style="background: #ffa; color:black; font-size: smaller;"><div>You may include any references to papers as in: the use of JSmol in Proteopedia <ref>DOI 10.1002/ijch.201300024</ref> or to the article describing Jmol <ref>PMID:21638687</ref> to the rescue.</div></td><td colspan="2"> </td></tr> <tr><td class='diff-marker'>-</td><td style="background: #ffa; color:black; font-size: smaller;"></td><td colspan="2"> </td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"></td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"></td></tr> </table>

Morgan Dillon http://52.214.119.220/wiki/index.php?title=Rett_Syndrome_Protein&diff=3033722&oldid=prev Morgan Dillon at 19:15, 24 April 2019 2019-04-24T19:15:48Z

<p></p> <table style="background-color: white; color:black;"> <col class='diff-marker' /> <col class='diff-content' /> <col class='diff-marker' /> <col class='diff-content' /> <tr> <td colspan='2' style="background-color: white; color:black;">←Older revision</td> <td colspan='2' style="background-color: white; color:black;">Revision as of 19:15, 24 April 2019</td> </tr> <tr><td colspan="2" class="diff-lineno">Line 5:</td> <td colspan="2" class="diff-lineno">Line 5:</td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"></td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"></td></tr> <tr><td class='diff-marker'>-</td><td style="background: #ffa; color:black; font-size: smaller;"></td><td colspan="2"> </td></tr> <tr><td class='diff-marker'>-</td><td style="background: #ffa; color:black; font-size: smaller;"><div>== Structural highlights ==</div></td><td colspan="2"> </td></tr> <tr><td class='diff-marker'>-</td><td style="background: #ffa; color:black; font-size: smaller;"></td><td colspan="2"> </td></tr> <tr><td class='diff-marker'>-</td><td style="background: #ffa; color:black; font-size: smaller;"><div>This is a sample scene created with SAT to <scene name="/12/3456/Sample/1">color</scene> by Group, and another to make <scene name="/12/3456/Sample/2">a transparent representation</scene> of the protein. You can make your own scenes on SAT starting from scratch or loading and editing one of these sample scenes.</div></td><td colspan="2"> </td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"></td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div></StructureSection></div></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div></StructureSection></div></td></tr> </table>

Morgan Dillon http://52.214.119.220/wiki/index.php?title=Rett_Syndrome_Protein&diff=3033721&oldid=prev Morgan Dillon at 19:13, 24 April 2019 2019-04-24T19:13:38Z

<p></p> <table style="background-color: white; color:black;"> <col class='diff-marker' /> <col class='diff-content' /> <col class='diff-marker' /> <col class='diff-content' /> <tr> <td colspan='2' style="background-color: white; color:black;">←Older revision</td> <td colspan='2' style="background-color: white; color:black;">Revision as of 19:13, 24 April 2019</td> </tr> <tr><td colspan="2" class="diff-lineno">Line 1:</td> <td colspan="2" class="diff-lineno">Line 1:</td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>==Rett Syndrome Protein==</div></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>==Rett Syndrome Protein==</div></td></tr> <tr><td class='diff-marker'>-</td><td style="background: #ffa; color:black; font-size: smaller;"><div><StructureSection load<del style="color: red; font-weight: bold; text-decoration: none;">=<scene name</del>='<del style="color: red; font-weight: bold; text-decoration: none;">81/814056/Mecp2_primary_scene/2</del>'<del style="color: red; font-weight: bold; text-decoration: none;">>'81/814056/Mecp2_primary_scene/1'</scene></del>size='340' side='right' caption='Caption for this structure' scene=''></div></td><td class='diff-marker'>+</td><td style="background: #cfc; color:black; font-size: smaller;"><div><StructureSection load='<ins style="color: red; font-weight: bold; text-decoration: none;">3C2I</ins>' size='340' side='right' caption='Caption for this structure' scene=''></div></td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>This is a default text for your page '''Rett Syndrome Protein'''. Click above on '''edit this page''' to modify. Be careful with the &lt; and &gt; signs.</div></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>This is a default text for your page '''Rett Syndrome Protein'''. Click above on '''edit this page''' to modify. Be careful with the &lt; and &gt; signs.</div></td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>You may include any references to papers as in: the use of JSmol in Proteopedia <ref>DOI 10.1002/ijch.201300024</ref> or to the article describing Jmol <ref>PMID:21638687</ref> to the rescue.</div></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>You may include any references to papers as in: the use of JSmol in Proteopedia <ref>DOI 10.1002/ijch.201300024</ref> or to the article describing Jmol <ref>PMID:21638687</ref> to the rescue.</div></td></tr> </table>

Morgan Dillon http://52.214.119.220/wiki/index.php?title=Rett_Syndrome_Protein&diff=3033720&oldid=prev Morgan Dillon at 19:11, 24 April 2019 2019-04-24T19:11:59Z

<p></p> <table style="background-color: white; color:black;"> <col class='diff-marker' /> <col class='diff-content' /> <col class='diff-marker' /> <col class='diff-content' /> <tr> <td colspan='2' style="background-color: white; color:black;">←Older revision</td> <td colspan='2' style="background-color: white; color:black;">Revision as of 19:11, 24 April 2019</td> </tr> <tr><td colspan="2" class="diff-lineno">Line 1:</td> <td colspan="2" class="diff-lineno">Line 1:</td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>==Rett Syndrome Protein==</div></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>==Rett Syndrome Protein==</div></td></tr> <tr><td class='diff-marker'>-</td><td style="background: #ffa; color:black; font-size: smaller;"><div><StructureSection load='81/814056/Mecp2_primary_scene/1'size='340' side='right' caption='Caption for this structure' scene=''></div></td><td class='diff-marker'>+</td><td style="background: #cfc; color:black; font-size: smaller;"><div><StructureSection load<ins style="color: red; font-weight: bold; text-decoration: none;">=<scene name</ins>=<ins style="color: red; font-weight: bold; text-decoration: none;">'81/814056/Mecp2_primary_scene/2'></ins>'81/814056/Mecp2_primary_scene/1'<ins style="color: red; font-weight: bold; text-decoration: none;"></scene></ins>size='340' side='right' caption='Caption for this structure' scene=''></div></td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>This is a default text for your page '''Rett Syndrome Protein'''. Click above on '''edit this page''' to modify. Be careful with the &lt; and &gt; signs.</div></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>This is a default text for your page '''Rett Syndrome Protein'''. Click above on '''edit this page''' to modify. Be careful with the &lt; and &gt; signs.</div></td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>You may include any references to papers as in: the use of JSmol in Proteopedia <ref>DOI 10.1002/ijch.201300024</ref> or to the article describing Jmol <ref>PMID:21638687</ref> to the rescue.</div></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>You may include any references to papers as in: the use of JSmol in Proteopedia <ref>DOI 10.1002/ijch.201300024</ref> or to the article describing Jmol <ref>PMID:21638687</ref> to the rescue.</div></td></tr> </table>

Morgan Dillon http://52.214.119.220/wiki/index.php?title=Rett_Syndrome_Protein&diff=3033719&oldid=prev Morgan Dillon at 19:10, 24 April 2019 2019-04-24T19:10:05Z

<p></p> <table style="background-color: white; color:black;"> <col class='diff-marker' /> <col class='diff-content' /> <col class='diff-marker' /> <col class='diff-content' /> <tr> <td colspan='2' style="background-color: white; color:black;">←Older revision</td> <td colspan='2' style="background-color: white; color:black;">Revision as of 19:10, 24 April 2019</td> </tr> <tr><td colspan="2" class="diff-lineno">Line 40:</td> <td colspan="2" class="diff-lineno">Line 40:</td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>Rett Syndrome is a gradual neurodevelopmental disorder effected 1 in 10,000 to 15,000 females. Patients with Rett Syndrome typically develop normally until around 6 to 8 months of age. At this time the patient begins to go through a period of regression losing previously acquired skills. After this period of regression, most patients are able to become stable and survive into mid-adulthood.</div></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>Rett Syndrome is a gradual neurodevelopmental disorder effected 1 in 10,000 to 15,000 females. Patients with Rett Syndrome typically develop normally until around 6 to 8 months of age. At this time the patient begins to go through a period of regression losing previously acquired skills. After this period of regression, most patients are able to become stable and survive into mid-adulthood.</div></td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>As many other disorders are, MeCP2 is an X linked dominant trait. A mutation within this protein is the most common cause of Rett Syndrome. Therefore, females that are heterozygous are able to survive with the mutation within MeCP2 due to X inactivation. Males on the other hand, are typically unable to survive, or have severely shortened lifespan. The mutation that occurs within the MeCP2 protein could be a missense, nonsense, insertion, deletion, or any other genetic change within the gene or protein. T158M, which is the most common missense mutation causing Rett Syndrome by abolishing DNA binding because it disrupts this ASX-ST motif. Another well-known Rett inducing mutation, R106W, disrupts the ASX-ST motif by stabilizing hydrogen bonds between Arg 106 and Thr 158 and Val 159. These errors in MeCP2 result in loss of purposeful hand movements, slowed brain and head growth, gait abnormalities, and mental retardation. In addition, most Rett syndrome patients experience seizures, breathing irregularities, scoliosis, and an abnormal cardiac cycle.</div></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>As many other disorders are, MeCP2 is an X linked dominant trait. A mutation within this protein is the most common cause of Rett Syndrome. Therefore, females that are heterozygous are able to survive with the mutation within MeCP2 due to X inactivation. Males on the other hand, are typically unable to survive, or have severely shortened lifespan. The mutation that occurs within the MeCP2 protein could be a missense, nonsense, insertion, deletion, or any other genetic change within the gene or protein. T158M, which is the most common missense mutation causing Rett Syndrome by abolishing DNA binding because it disrupts this ASX-ST motif. Another well-known Rett inducing mutation, R106W, disrupts the ASX-ST motif by stabilizing hydrogen bonds between Arg 106 and Thr 158 and Val 159. These errors in MeCP2 result in loss of purposeful hand movements, slowed brain and head growth, gait abnormalities, and mental retardation. In addition, most Rett syndrome patients experience seizures, breathing irregularities, scoliosis, and an abnormal cardiac cycle.</div></td></tr> <tr><td class='diff-marker'>-</td><td style="background: #ffa; color:black; font-size: smaller;"><div> The primary locations which mutations causing the major symptoms in Rett Syndrome are: <scene name='81/814056/Work_of_art/1'>R106, R133, T158, R168, R255, R270, R294, and R306</scene>.<del style="color: red; font-weight: bold; text-decoration: none;">3 </del>Most of these mutation all occur within the MBD region of MeCP2.3 <ref name="two">Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nature genetics. https://www.ncbi.nlm.nih.gov/pubmed/10508514/. Published October 1999. Accessed March 8, 2019.</ref> <ref name="Na">Na ES, Monteggia LM. The role of MeCP2 in CNS development and function. Hormones and behavior. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3077534/. Published March 2011. Accessed March 20, 2019.</ref> <ref name="One">Marchetto M, Carromeu C, Acab A, et al. A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells. Science Direct . https://www.sciencedirect.com/science/article/pii/S0092867410011864?via=ihub. Published November 12, 2010. Accessed March 10, 2019.</ref></div></td><td class='diff-marker'>+</td><td style="background: #cfc; color:black; font-size: smaller;"><div> The primary locations which mutations causing the major symptoms in Rett Syndrome are: <scene name='81/814056/Work_of_art/1'>R106, R133, T158, R168, R255, R270, R294, and R306</scene>. Most of these mutation all occur within the MBD region of MeCP2.3 <ref name="two">Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nature genetics. https://www.ncbi.nlm.nih.gov/pubmed/10508514/. Published October 1999. Accessed March 8, 2019.</ref> <ref name="Na">Na ES, Monteggia LM. The role of MeCP2 in CNS development and function. Hormones and behavior. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3077534/. Published March 2011. Accessed March 20, 2019.</ref> <ref name="One">Marchetto M, Carromeu C, Acab A, et al. A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells. Science Direct . https://www.sciencedirect.com/science/article/pii/S0092867410011864?via=ihub. Published November 12, 2010. Accessed March 10, 2019.</ref></div></td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"></td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>== References ==</div></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>== References ==</div></td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div><references/></div></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div><references/></div></td></tr> </table>

Morgan Dillon http://52.214.119.220/wiki/index.php?title=Rett_Syndrome_Protein&diff=3033718&oldid=prev Morgan Dillon at 19:08, 24 April 2019 2019-04-24T19:08:31Z

<p></p> <table style="background-color: white; color:black;"> <col class='diff-marker' /> <col class='diff-content' /> <col class='diff-marker' /> <col class='diff-content' /> <tr> <td colspan='2' style="background-color: white; color:black;">←Older revision</td> <td colspan='2' style="background-color: white; color:black;">Revision as of 19:08, 24 April 2019</td> </tr> <tr><td colspan="2" class="diff-lineno">Line 40:</td> <td colspan="2" class="diff-lineno">Line 40:</td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>Rett Syndrome is a gradual neurodevelopmental disorder effected 1 in 10,000 to 15,000 females. Patients with Rett Syndrome typically develop normally until around 6 to 8 months of age. At this time the patient begins to go through a period of regression losing previously acquired skills. After this period of regression, most patients are able to become stable and survive into mid-adulthood.</div></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>Rett Syndrome is a gradual neurodevelopmental disorder effected 1 in 10,000 to 15,000 females. Patients with Rett Syndrome typically develop normally until around 6 to 8 months of age. At this time the patient begins to go through a period of regression losing previously acquired skills. After this period of regression, most patients are able to become stable and survive into mid-adulthood.</div></td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>As many other disorders are, MeCP2 is an X linked dominant trait. A mutation within this protein is the most common cause of Rett Syndrome. Therefore, females that are heterozygous are able to survive with the mutation within MeCP2 due to X inactivation. Males on the other hand, are typically unable to survive, or have severely shortened lifespan. The mutation that occurs within the MeCP2 protein could be a missense, nonsense, insertion, deletion, or any other genetic change within the gene or protein. T158M, which is the most common missense mutation causing Rett Syndrome by abolishing DNA binding because it disrupts this ASX-ST motif. Another well-known Rett inducing mutation, R106W, disrupts the ASX-ST motif by stabilizing hydrogen bonds between Arg 106 and Thr 158 and Val 159. These errors in MeCP2 result in loss of purposeful hand movements, slowed brain and head growth, gait abnormalities, and mental retardation. In addition, most Rett syndrome patients experience seizures, breathing irregularities, scoliosis, and an abnormal cardiac cycle.</div></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>As many other disorders are, MeCP2 is an X linked dominant trait. A mutation within this protein is the most common cause of Rett Syndrome. Therefore, females that are heterozygous are able to survive with the mutation within MeCP2 due to X inactivation. Males on the other hand, are typically unable to survive, or have severely shortened lifespan. The mutation that occurs within the MeCP2 protein could be a missense, nonsense, insertion, deletion, or any other genetic change within the gene or protein. T158M, which is the most common missense mutation causing Rett Syndrome by abolishing DNA binding because it disrupts this ASX-ST motif. Another well-known Rett inducing mutation, R106W, disrupts the ASX-ST motif by stabilizing hydrogen bonds between Arg 106 and Thr 158 and Val 159. These errors in MeCP2 result in loss of purposeful hand movements, slowed brain and head growth, gait abnormalities, and mental retardation. In addition, most Rett syndrome patients experience seizures, breathing irregularities, scoliosis, and an abnormal cardiac cycle.</div></td></tr> <tr><td class='diff-marker'>-</td><td style="background: #ffa; color:black; font-size: smaller;"><div> The primary locations which mutations causing the major symptoms in Rett Syndrome are: R106, R133, T158, R168, R255, R270, R294, and R306.3 Most of these mutation all occur within the MBD region of MeCP2.3 <ref name="two">Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nature genetics. https://www.ncbi.nlm.nih.gov/pubmed/10508514/. Published October 1999. Accessed March 8, 2019.</ref> <ref name="Na">Na ES, Monteggia LM. The role of MeCP2 in CNS development and function. Hormones and behavior. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3077534/. Published March 2011. Accessed March 20, 2019.</ref> <ref name="One">Marchetto M, Carromeu C, Acab A, et al. A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells. Science Direct . https://www.sciencedirect.com/science/article/pii/S0092867410011864?via=ihub. Published November 12, 2010. Accessed March 10, 2019.</ref></div></td><td class='diff-marker'>+</td><td style="background: #cfc; color:black; font-size: smaller;"><div> The primary locations which mutations causing the major symptoms in Rett Syndrome are: <ins style="color: red; font-weight: bold; text-decoration: none;"><scene name='81/814056/Work_of_art/1'></ins>R106, R133, T158, R168, R255, R270, R294, and R306<ins style="color: red; font-weight: bold; text-decoration: none;"></scene></ins>.3 Most of these mutation all occur within the MBD region of MeCP2.3 <ref name="two">Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nature genetics. https://www.ncbi.nlm.nih.gov/pubmed/10508514/. Published October 1999. Accessed March 8, 2019.</ref> <ref name="Na">Na ES, Monteggia LM. The role of MeCP2 in CNS development and function. Hormones and behavior. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3077534/. Published March 2011. Accessed March 20, 2019.</ref> <ref name="One">Marchetto M, Carromeu C, Acab A, et al. A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells. Science Direct . https://www.sciencedirect.com/science/article/pii/S0092867410011864?via=ihub. Published November 12, 2010. Accessed March 10, 2019.</ref></div></td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"></td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>== References ==</div></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>== References ==</div></td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div><references/></div></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div><references/></div></td></tr> </table>

Morgan Dillon http://52.214.119.220/wiki/index.php?title=Rett_Syndrome_Protein&diff=3033700&oldid=prev Morgan Dillon at 18:31, 24 April 2019 2019-04-24T18:31:06Z

<p></p> <table style="background-color: white; color:black;"> <col class='diff-marker' /> <col class='diff-content' /> <col class='diff-marker' /> <col class='diff-content' /> <tr> <td colspan='2' style="background-color: white; color:black;">←Older revision</td> <td colspan='2' style="background-color: white; color:black;">Revision as of 18:31, 24 April 2019</td> </tr> <tr><td colspan="2" class="diff-lineno">Line 1:</td> <td colspan="2" class="diff-lineno">Line 1:</td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>==Rett Syndrome Protein==</div></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>==Rett Syndrome Protein==</div></td></tr> <tr><td class='diff-marker'>-</td><td style="background: #ffa; color:black; font-size: smaller;"><div><StructureSection load='<del style="color: red; font-weight: bold; text-decoration: none;">1stp</del>' size='340' side='right' caption='Caption for this structure' scene=''></div></td><td class='diff-marker'>+</td><td style="background: #cfc; color:black; font-size: smaller;"><div><StructureSection load='<ins style="color: red; font-weight: bold; text-decoration: none;">81/814056/Mecp2_primary_scene/1</ins>'size='340' side='right' caption='Caption for this structure' scene=''></div></td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>This is a default text for your page '''Rett Syndrome Protein'''. Click above on '''edit this page''' to modify. Be careful with the &lt; and &gt; signs.</div></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>This is a default text for your page '''Rett Syndrome Protein'''. Click above on '''edit this page''' to modify. Be careful with the &lt; and &gt; signs.</div></td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>You may include any references to papers as in: the use of JSmol in Proteopedia <ref>DOI 10.1002/ijch.201300024</ref> or to the article describing Jmol <ref>PMID:21638687</ref> to the rescue.</div></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>You may include any references to papers as in: the use of JSmol in Proteopedia <ref>DOI 10.1002/ijch.201300024</ref> or to the article describing Jmol <ref>PMID:21638687</ref> to the rescue.</div></td></tr> <tr><td colspan="2" class="diff-lineno">Line 24:</td> <td colspan="2" class="diff-lineno">Line 24:</td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"></td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>=='''Structure'''== </div></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>=='''Structure'''== </div></td></tr> <tr><td class='diff-marker'>-</td><td style="background: #ffa; color:black; font-size: smaller;"><div>The MeCP2 DNA Binding Domain binds to methylated BDNF DNA sequence primarily using hydrophobic pockets. It is able to recognize mCpG DNA by noticing 5 unique CH-O hydrogen bonds within water molecules. An example is how water-24 forms hydrogen bonds with Try 123, Arg 133, water 22, and m5C8. Compared to water-22 which forms hydrogen bonds with Asp 121, waster-24, water-21, and N4 of m5C33. Only Asp 121 direct interacts with the DNA bases. It forms hydrogen bonds with methyl groups with Arg which are stabilized with salt bridges.</div></td><td class='diff-marker'>+</td><td style="background: #cfc; color:black; font-size: smaller;"><div>The MeCP2 DNA Binding Domain binds to methylated BDNF DNA sequence primarily using hydrophobic pockets. It is able to recognize mCpG DNA by noticing 5 unique CH-O hydrogen bonds within water molecules. An example is how water-24 forms hydrogen bonds with Try 123, Arg 133, water 22, and m5C8. Compared to water-22 which forms hydrogen bonds with <ins style="color: red; font-weight: bold; text-decoration: none;"><scene name='81/814056/Morgan_d_2/1'></ins>Asp 121<ins style="color: red; font-weight: bold; text-decoration: none;"></scene></ins>, waster-24, water-21, and N4 of m5C33. Only Asp 121 direct interacts with the DNA bases. It forms hydrogen bonds with methyl groups with Arg which are stabilized with salt bridges.</div></td></tr> <tr><td class='diff-marker'>-</td><td style="background: #ffa; color:black; font-size: smaller;"><div>The entire strand is comprised of 51% β-sheet, 10% α-helix, and almost 40% unstructured. The terminal carbon region contains a rare tandem ASX-ST motif which includes an ASX turn proceeded by an ST motif. This unique turn is stabilized with hydrogen bond interactions connecting the nitrogens between amino acids. These finds are consistent as typically MeCP2 behaves as a monomer while in ionic conditions and molar concentrations, and had an unusually low sedimentation coefficient (2.2 S) and a correspondingly high frictional coefficient ratio (f/fo = 2.4). This proves the helical structure. </div></td><td class='diff-marker'>+</td><td style="background: #cfc; color:black; font-size: smaller;"><div>The entire strand is comprised of 51% β-sheet, 10% α-helix, and almost 40% unstructured. The terminal carbon region contains a rare tandem ASX-ST motif which includes an <ins style="color: red; font-weight: bold; text-decoration: none;"><scene name='81/814056/Asx_turn/2'></ins>ASX turn<ins style="color: red; font-weight: bold; text-decoration: none;"></scene> </ins>proceeded by an <ins style="color: red; font-weight: bold; text-decoration: none;"><scene name='81/814056/St_motif/1'></ins>ST motif<ins style="color: red; font-weight: bold; text-decoration: none;"></scene></ins>. This unique turn is stabilized with hydrogen bond interactions connecting the nitrogens between amino acids. These finds are consistent as typically MeCP2 behaves as a monomer while in ionic conditions and molar concentrations, and had an unusually low sedimentation coefficient (2.2 S) and a correspondingly high frictional coefficient ratio (f/fo = 2.4). This proves the helical structure. </div></td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>MeCP2 is comprised of six biochemically distinct domains which are located at the N-terminus. It includes HMGD1, MBD, HMGD2, TRD, carboxyl terminal domain (CTD)-α, and CTD-β from the amino to carboxyl terminals. Some of these site are rapidly digested by Trypsin while others are restricted. The two more important for the protein’s function include MBD which is selectively binds 5MeCyt and the other is TRD which binds cofactors attracting histone deacetylase and leads to transcription repression. In addition, MBD is the only structured domain. The MBD domain contains the most common missense mutation causing Rett Syndrome when there is a change in the ASX-ST motif. This minor alteration inhibits the binding of DNA. This topic will be further discussed later in the literature. <ref name="One">Marchetto M, Carromeu C, Acab A, et al. A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells. Science Direct . https://www.sciencedirect.com/science/article/pii/S0092867410011864?via=ihub. Published November 12, 2010. Accessed March 10, 2019.</ref> <ref name="Hite">Hite KC, Adams VH, Hansen JC. Recent advances in MeCP2 structure and function. Biochemistry and cell biology = Biochimie et biologie cellulaire. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2874317/. Published February 2009. Accessed March 7, 2019.</ref> <ref name="War">Warby S. Discovery of a new protein isoform of MeCP2 and exon 1 mutations causing Rett syndrome. HotSpots.:108-110. https://maryville.illiad.oclc.org/illiad/pdf/157498.pdf. Accessed March 7, 2019.</ref></div></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>MeCP2 is comprised of six biochemically distinct domains which are located at the N-terminus. It includes HMGD1, MBD, HMGD2, TRD, carboxyl terminal domain (CTD)-α, and CTD-β from the amino to carboxyl terminals. Some of these site are rapidly digested by Trypsin while others are restricted. The two more important for the protein’s function include MBD which is selectively binds 5MeCyt and the other is TRD which binds cofactors attracting histone deacetylase and leads to transcription repression. In addition, MBD is the only structured domain. The MBD domain contains the most common missense mutation causing Rett Syndrome when there is a change in the ASX-ST motif. This minor alteration inhibits the binding of DNA. This topic will be further discussed later in the literature. <ref name="One">Marchetto M, Carromeu C, Acab A, et al. A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells. Science Direct . https://www.sciencedirect.com/science/article/pii/S0092867410011864?via=ihub. Published November 12, 2010. Accessed March 10, 2019.</ref> <ref name="Hite">Hite KC, Adams VH, Hansen JC. Recent advances in MeCP2 structure and function. Biochemistry and cell biology = Biochimie et biologie cellulaire. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2874317/. Published February 2009. Accessed March 7, 2019.</ref> <ref name="War">Warby S. Discovery of a new protein isoform of MeCP2 and exon 1 mutations causing Rett syndrome. HotSpots.:108-110. https://maryville.illiad.oclc.org/illiad/pdf/157498.pdf. Accessed March 7, 2019.</ref></div></td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"></td></tr> </table>

Morgan Dillon http://52.214.119.220/wiki/index.php?title=Rett_Syndrome_Protein&diff=3033686&oldid=prev Morgan Dillon at 18:21, 24 April 2019 2019-04-24T18:21:03Z

<p></p> <table style="background-color: white; color:black;"> <col class='diff-marker' /> <col class='diff-content' /> <col class='diff-marker' /> <col class='diff-content' /> <tr> <td colspan='2' style="background-color: white; color:black;">←Older revision</td> <td colspan='2' style="background-color: white; color:black;">Revision as of 18:21, 24 April 2019</td> </tr> <tr><td colspan="2" class="diff-lineno">Line 1:</td> <td colspan="2" class="diff-lineno">Line 1:</td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>==Rett Syndrome Protein==</div></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>==Rett Syndrome Protein==</div></td></tr> <tr><td class='diff-marker'>-</td><td style="background: #ffa; color:black; font-size: smaller;"><div><StructureSection load<del style="color: red; font-weight: bold; text-decoration: none;">=<scene name</del>='<del style="color: red; font-weight: bold; text-decoration: none;">81/814056/Mecp2_primary_scene/1</del>'<del style="color: red; font-weight: bold; text-decoration: none;">>Text To Be Displayed</scene> </del>size='340' side='right' caption='Caption for this structure' scene=''></div></td><td class='diff-marker'>+</td><td style="background: #cfc; color:black; font-size: smaller;"><div><StructureSection load='<ins style="color: red; font-weight: bold; text-decoration: none;">1stp</ins>' size='340' side='right' caption='Caption for this structure' scene=''></div></td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>This is a default text for your page '''Rett Syndrome Protein'''. Click above on '''edit this page''' to modify. Be careful with the &lt; and &gt; signs.</div></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>This is a default text for your page '''Rett Syndrome Protein'''. Click above on '''edit this page''' to modify. Be careful with the &lt; and &gt; signs.</div></td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>You may include any references to papers as in: the use of JSmol in Proteopedia <ref>DOI 10.1002/ijch.201300024</ref> or to the article describing Jmol <ref>PMID:21638687</ref> to the rescue.</div></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>You may include any references to papers as in: the use of JSmol in Proteopedia <ref>DOI 10.1002/ijch.201300024</ref> or to the article describing Jmol <ref>PMID:21638687</ref> to the rescue.</div></td></tr> <tr><td colspan="2" class="diff-lineno">Line 24:</td> <td colspan="2" class="diff-lineno">Line 24:</td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"></td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>=='''Structure'''== </div></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>=='''Structure'''== </div></td></tr> <tr><td class='diff-marker'>-</td><td style="background: #ffa; color:black; font-size: smaller;"><div>The MeCP2 DNA Binding Domain binds to methylated BDNF DNA sequence primarily using hydrophobic pockets. It is able to recognize mCpG DNA by noticing 5 unique CH-O hydrogen bonds within water molecules. An example is how water-24 forms hydrogen bonds with Try 123, Arg 133, water 22, and m5C8. Compared to water-22 which forms hydrogen bonds with <del style="color: red; font-weight: bold; text-decoration: none;"><scene name='81/814056/Morgan_d_2/1'></del>Asp 121<del style="color: red; font-weight: bold; text-decoration: none;"></scene></del>, waster-24, water-21, and N4 of m5C33. Only Asp 121 direct interacts with the DNA bases. It forms hydrogen bonds with methyl groups with Arg which are stabilized with salt bridges.</div></td><td class='diff-marker'>+</td><td style="background: #cfc; color:black; font-size: smaller;"><div>The MeCP2 DNA Binding Domain binds to methylated BDNF DNA sequence primarily using hydrophobic pockets. It is able to recognize mCpG DNA by noticing 5 unique CH-O hydrogen bonds within water molecules. An example is how water-24 forms hydrogen bonds with Try 123, Arg 133, water 22, and m5C8. Compared to water-22 which forms hydrogen bonds with Asp 121, waster-24, water-21, and N4 of m5C33. Only Asp 121 direct interacts with the DNA bases. It forms hydrogen bonds with methyl groups with Arg which are stabilized with salt bridges.</div></td></tr> <tr><td class='diff-marker'>-</td><td style="background: #ffa; color:black; font-size: smaller;"><div>The entire strand is comprised of 51% β-sheet, 10% α-helix, and almost 40% unstructured. The terminal carbon region contains a rare tandem ASX-ST motif which includes an <del style="color: red; font-weight: bold; text-decoration: none;"><scene name='81/814056/Asx_turn/2'></del>ASX turn<del style="color: red; font-weight: bold; text-decoration: none;"></scene> </del>proceeded by an <del style="color: red; font-weight: bold; text-decoration: none;"><scene name='81/814056/St_motif/1'></del>ST motif<del style="color: red; font-weight: bold; text-decoration: none;"></scene></del>. This unique turn is stabilized with hydrogen bond interactions connecting the nitrogens between amino acids. These finds are consistent as typically MeCP2 behaves as a monomer while in ionic conditions and molar concentrations, and had an unusually low sedimentation coefficient (2.2 S) and a correspondingly high frictional coefficient ratio (f/fo = 2.4). This proves the helical structure. </div></td><td class='diff-marker'>+</td><td style="background: #cfc; color:black; font-size: smaller;"><div>The entire strand is comprised of 51% β-sheet, 10% α-helix, and almost 40% unstructured. The terminal carbon region contains a rare tandem ASX-ST motif which includes an ASX turn proceeded by an ST motif. This unique turn is stabilized with hydrogen bond interactions connecting the nitrogens between amino acids. These finds are consistent as typically MeCP2 behaves as a monomer while in ionic conditions and molar concentrations, and had an unusually low sedimentation coefficient (2.2 S) and a correspondingly high frictional coefficient ratio (f/fo = 2.4). This proves the helical structure. </div></td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>MeCP2 is comprised of six biochemically distinct domains which are located at the N-terminus. It includes HMGD1, MBD, HMGD2, TRD, carboxyl terminal domain (CTD)-α, and CTD-β from the amino to carboxyl terminals. Some of these site are rapidly digested by Trypsin while others are restricted. The two more important for the protein’s function include MBD which is selectively binds 5MeCyt and the other is TRD which binds cofactors attracting histone deacetylase and leads to transcription repression. In addition, MBD is the only structured domain. The MBD domain contains the most common missense mutation causing Rett Syndrome when there is a change in the ASX-ST motif. This minor alteration inhibits the binding of DNA. This topic will be further discussed later in the literature. <ref name="One">Marchetto M, Carromeu C, Acab A, et al. A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells. Science Direct . https://www.sciencedirect.com/science/article/pii/S0092867410011864?via=ihub. Published November 12, 2010. Accessed March 10, 2019.</ref> <ref name="Hite">Hite KC, Adams VH, Hansen JC. Recent advances in MeCP2 structure and function. Biochemistry and cell biology = Biochimie et biologie cellulaire. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2874317/. Published February 2009. Accessed March 7, 2019.</ref> <ref name="War">Warby S. Discovery of a new protein isoform of MeCP2 and exon 1 mutations causing Rett syndrome. HotSpots.:108-110. https://maryville.illiad.oclc.org/illiad/pdf/157498.pdf. Accessed March 7, 2019.</ref></div></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"><div>MeCP2 is comprised of six biochemically distinct domains which are located at the N-terminus. It includes HMGD1, MBD, HMGD2, TRD, carboxyl terminal domain (CTD)-α, and CTD-β from the amino to carboxyl terminals. Some of these site are rapidly digested by Trypsin while others are restricted. The two more important for the protein’s function include MBD which is selectively binds 5MeCyt and the other is TRD which binds cofactors attracting histone deacetylase and leads to transcription repression. In addition, MBD is the only structured domain. The MBD domain contains the most common missense mutation causing Rett Syndrome when there is a change in the ASX-ST motif. This minor alteration inhibits the binding of DNA. This topic will be further discussed later in the literature. <ref name="One">Marchetto M, Carromeu C, Acab A, et al. A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells. Science Direct . https://www.sciencedirect.com/science/article/pii/S0092867410011864?via=ihub. Published November 12, 2010. Accessed March 10, 2019.</ref> <ref name="Hite">Hite KC, Adams VH, Hansen JC. Recent advances in MeCP2 structure and function. Biochemistry and cell biology = Biochimie et biologie cellulaire. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2874317/. Published February 2009. Accessed March 7, 2019.</ref> <ref name="War">Warby S. Discovery of a new protein isoform of MeCP2 and exon 1 mutations causing Rett syndrome. HotSpots.:108-110. https://maryville.illiad.oclc.org/illiad/pdf/157498.pdf. Accessed March 7, 2019.</ref></div></td></tr> <tr><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"></td><td class='diff-marker'> </td><td style="background: #eee; color:black; font-size: smaller;"></td></tr> </table>

Morgan Dillon