6c1y - Revision history

OCA at 14:54, 4 October 2023

OCA — Wed, 04 Oct 2023 14:54:52 GMT

←Older revision		Revision as of 14:54, 4 October 2023
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	<StructureSection load='6c1y' size='340' side='right'caption='[[6c1y]], [[Resolution\|resolution]] 2.30Å' scene=''>		<StructureSection load='6c1y' size='340' side='right'caption='[[6c1y]], [[Resolution\|resolution]] 2.30Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[6c1y]] is a 6 chain structure with sequence from [~~http~~://en.wikipedia.org/wiki/~~Human Human~~]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=6C1Y OCA]. For a <b>guided tour on the structure components</b> use [~~http~~://~~oca~~.~~weizmann.ac.il/oca-docs~~/fgij/fg.htm?mol=6C1Y FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[6c1y]] is a 6 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens] and [https://en.wikipedia.org/wiki/Synthetic_construct Synthetic construct]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=6C1Y OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=6C1Y FirstGlance]. <br>
-	</td></tr><tr id='~~ligand~~'><td class="sblockLbl"><b>[[~~Ligand~~\|~~Ligands~~:]]</b></td><td class="sblockDat"~~><scene name~~=~~'pdbligand=UNX:UNKNOWN+ATOM+OR+ION'>UNX</scene~~></td></tr>	+	</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models\|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution\|Resolution]] 2.3Å</td></tr>
-	<tr id='~~NonStdRes~~'><td class="sblockLbl"><b>[[~~Non-Standard_Residue~~\|~~NonStd Res~~:]]</b></td><td class="sblockDat"><scene name='pdbligand=5CM:5-METHYL-2-DEOXY-CYTIDINE-5-MONOPHOSPHATE'>5CM</scene><~~/td></tr>~~	+	<tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=5CM:5-METHYL-2-DEOXY-CYTIDINE-5-MONOPHOSPHATE'>5CM</scene>, <scene name='pdbligand=UNX:UNKNOWN+ATOM+OR+ION'>UNX</scene></td></tr>
-	~~<tr id~~='~~gene'><td class~~=~~"sblockLbl"><b>[[Gene\|Gene~~:~~]]</b~~></td>~~<td class="sblockDat">MECP2 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])~~</td></tr>	+	<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=6c1y FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6c1y OCA], [https://pdbe.org/6c1y PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=6c1y RCSB], [https://www.ebi.ac.uk/pdbsum/6c1y PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=6c1y ProSAT]</span></td></tr>
-	<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[~~http~~://~~oca~~.~~weizmann.ac.il/oca-docs~~/fgij/fg.htm?mol=6c1y FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6c1y OCA], [~~http~~://pdbe.org/6c1y PDBe], [~~http~~://www.rcsb.org/pdb/explore.do?structureId=6c1y RCSB], [~~http~~://www.ebi.ac.uk/pdbsum/6c1y PDBsum], [~~http~~://prosat.h-its.org/prosat/prosatexe?pdbcode=6c1y ProSAT]</span></td></tr>	+
	</table>		</table>
	== Disease ==		== Disease ==
-	[~~[http~~://www.uniprot.org/uniprot/MECP2_HUMAN MECP2_HUMAN]] Defects in MECP2 may be a cause of Angelman syndrome (AS) [MIM:[~~http~~://omim.org/entry/105830 105830]]; also known as happy puppet syndrome. AS is a neurodevelopmental disorder characterized by severe mental retardation, absent speech, ataxia, sociable affect and dysmorphic facial features. AS and Rett syndrome have overlapping clinical features.<ref>PMID:11376998</ref> <ref>PMID:11283202</ref> Defects in MECP2 are the cause of mental retardation syndromic X-linked type 13 (MRXS13) [MIM:[~~http~~://omim.org/entry/300055 300055]]. Mental retardation is a mental disorder characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRXS13 patients manifest mental retardation associated with other variable features such as spasticity, episodes of manic depressive psychosis, increased tone and macroorchidism.<ref>PMID:10986043</ref> <ref>PMID:11007980</ref> <ref>PMID:11309367</ref> <ref>PMID:11885030</ref> <ref>PMID:12325019</ref> <ref>PMID:12161600</ref> <ref>PMID:11805248</ref> <ref>PMID:12615169</ref> <ref>PMID:16966553</ref> Defects in MECP2 are the cause of Rett syndrome (RTT) [MIM:[~~http~~://omim.org/entry/312750 312750]]. RTT is an X-linked dominant disease, it is a progressive neurologic developmental disorder and one of the most common causes of mental retardation in females. Patients appear to develop normally until 6 to 18 months of age, then gradually lose speech and purposeful hand movements and develop microcephaly, seizures, autism, ataxia, intermittent hyperventilation, and stereotypic hand movements. After initial regression, the condition stabilizes and patients usually survive into adulthood.<ref>PMID:11376998</ref> <ref>PMID:11283202</ref> <ref>PMID:12161600</ref> <ref>PMID:15034579</ref> <ref>PMID:10577905</ref> <ref>PMID:10508514</ref> <ref>PMID:11055898</ref> <ref>PMID:10767337</ref> <ref>PMID:10814719</ref> <ref>PMID:10944854</ref> <ref>PMID:10745042</ref> <ref>PMID:10991688</ref> <ref>PMID:10991689</ref> <ref>PMID:11706982</ref> <ref>PMID:11738883</ref> <ref>PMID:11241840</ref> <ref>PMID:11269512</ref> <ref>PMID:11402105</ref> <ref>PMID:12567420</ref> <ref>PMID:12966522</ref> <ref>PMID:12966523</ref> <ref>PMID:15057977</ref> Defects in MECP2 may be the cause of susceptibility autism X-linked type 3 (AUTSX3) [MIM:[~~http~~://omim.org/entry/300496 300496]]. AUTSX3 is a pervasive developmental disorder (PDD), prototypically characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age.<ref>PMID:12770674</ref> Defects in MECP2 are the cause of encephalopathy neonatal severe due to MECP2 mutations (ENS-MECP2) [MIM:[~~http~~://omim.org/entry/300673 300673]]. Note=The MECP2 gene is mutated in Rett syndrome, a severe neurodevelopmental disorder that almost always occurs in females. Although it was first thought that MECP2 mutations causing Rett syndrome were lethal in males, later reports identified a severe neonatal encephalopathy in surviving male sibs of patients with Rett syndrome. Additional reports have confirmed a severe phenotype in males with Rett syndrome-associated MECP2 mutations.<ref>PMID:11238684</ref> Defects in MECP2 are the cause of mental retardation syndromic X-linked Lubs type (MRXSL) [MIM:[~~http~~://omim.org/entry/300260 300260]]. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRXSL patients manifest mental retardation associated with variable features. They include swallowing dysfunction and gastroesophageal reflux with secondary recurrent respiratory infections, hypotonia, mild myopathy and characteristic facies such as downslanting palpebral fissures, hypertelorism and a short nose with a low nasal bridge. Note=Increased dosage of MECP2 due to gene duplication appears to be responsible for the mental retardation phenotype.	+	[https://www.uniprot.org/uniprot/MECP2_HUMAN MECP2_HUMAN] Defects in MECP2 may be a cause of Angelman syndrome (AS) [MIM:[https://omim.org/entry/105830 105830]; also known as happy puppet syndrome. AS is a neurodevelopmental disorder characterized by severe mental retardation, absent speech, ataxia, sociable affect and dysmorphic facial features. AS and Rett syndrome have overlapping clinical features.<ref>PMID:11376998</ref> <ref>PMID:11283202</ref> Defects in MECP2 are the cause of mental retardation syndromic X-linked type 13 (MRXS13) [MIM:[https://omim.org/entry/300055 300055]. Mental retardation is a mental disorder characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRXS13 patients manifest mental retardation associated with other variable features such as spasticity, episodes of manic depressive psychosis, increased tone and macroorchidism.<ref>PMID:10986043</ref> <ref>PMID:11007980</ref> <ref>PMID:11309367</ref> <ref>PMID:11885030</ref> <ref>PMID:12325019</ref> <ref>PMID:12161600</ref> <ref>PMID:11805248</ref> <ref>PMID:12615169</ref> <ref>PMID:16966553</ref> Defects in MECP2 are the cause of Rett syndrome (RTT) [MIM:[https://omim.org/entry/312750 312750]. RTT is an X-linked dominant disease, it is a progressive neurologic developmental disorder and one of the most common causes of mental retardation in females. Patients appear to develop normally until 6 to 18 months of age, then gradually lose speech and purposeful hand movements and develop microcephaly, seizures, autism, ataxia, intermittent hyperventilation, and stereotypic hand movements. After initial regression, the condition stabilizes and patients usually survive into adulthood.<ref>PMID:11376998</ref> <ref>PMID:11283202</ref> <ref>PMID:12161600</ref> <ref>PMID:15034579</ref> <ref>PMID:10577905</ref> <ref>PMID:10508514</ref> <ref>PMID:11055898</ref> <ref>PMID:10767337</ref> <ref>PMID:10814719</ref> <ref>PMID:10944854</ref> <ref>PMID:10745042</ref> <ref>PMID:10991688</ref> <ref>PMID:10991689</ref> <ref>PMID:11706982</ref> <ref>PMID:11738883</ref> <ref>PMID:11241840</ref> <ref>PMID:11269512</ref> <ref>PMID:11402105</ref> <ref>PMID:12567420</ref> <ref>PMID:12966522</ref> <ref>PMID:12966523</ref> <ref>PMID:15057977</ref> Defects in MECP2 may be the cause of susceptibility autism X-linked type 3 (AUTSX3) [MIM:[https://omim.org/entry/300496 300496]. AUTSX3 is a pervasive developmental disorder (PDD), prototypically characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age.<ref>PMID:12770674</ref> Defects in MECP2 are the cause of encephalopathy neonatal severe due to MECP2 mutations (ENS-MECP2) [MIM:[https://omim.org/entry/300673 300673]. Note=The MECP2 gene is mutated in Rett syndrome, a severe neurodevelopmental disorder that almost always occurs in females. Although it was first thought that MECP2 mutations causing Rett syndrome were lethal in males, later reports identified a severe neonatal encephalopathy in surviving male sibs of patients with Rett syndrome. Additional reports have confirmed a severe phenotype in males with Rett syndrome-associated MECP2 mutations.<ref>PMID:11238684</ref> Defects in MECP2 are the cause of mental retardation syndromic X-linked Lubs type (MRXSL) [MIM:[https://omim.org/entry/300260 300260]. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRXSL patients manifest mental retardation associated with variable features. They include swallowing dysfunction and gastroesophageal reflux with secondary recurrent respiratory infections, hypotonia, mild myopathy and characteristic facies such as downslanting palpebral fissures, hypertelorism and a short nose with a low nasal bridge. Note=Increased dosage of MECP2 due to gene duplication appears to be responsible for the mental retardation phenotype.
	== Function ==		== Function ==
-	[~~[http~~://www.uniprot.org/uniprot/MECP2_HUMAN MECP2_HUMAN]] Chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair. It is not influenced by sequences flanking the methyl-CpGs. Mediates transcriptional repression through interaction with histone deacetylase and the corepressor SIN3A.	+	[https://www.uniprot.org/uniprot/MECP2_HUMAN MECP2_HUMAN] Chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair. It is not influenced by sequences flanking the methyl-CpGs. Mediates transcriptional repression through interaction with histone deacetylase and the corepressor SIN3A.
	<div style="background-color:#fffaf0;">		<div style="background-color:#fffaf0;">
	== Publication Abstract from PubMed ==		== Publication Abstract from PubMed ==
Line 29:		Line 28:
	__TOC__		__TOC__
	</StructureSection>		</StructureSection>
-	[[Category: ~~Human~~]]	+	[[Category: Homo sapiens]]
	[[Category: Large Structures]]		[[Category: Large Structures]]
-	[[Category: Arrowsmith~~, C H~~]]	+	[[Category: Synthetic construct]]
-	[[Category: Bian, C]]	+	[[Category: Arrowsmith CH]]
-	[[Category: Bountra, C]]	+	[[Category: Bian C]]
-	[[Category: Edwards~~, A M~~]]	+	[[Category: Bountra C]]
-	[[Category: Liu, K]]	+	[[Category: Edwards AM]]
-	[[Category: Min, J]]	+	[[Category: Liu K]]
-	~~[[Category: Structural genomic~~]]	+	[[Category: Min J]]
-	[[Category: Tempel, W]]	+	[[Category: Tempel W]]
-	[[Category: Wernimont~~, A K]]~~	+	[[Category: Wernimont AK]]
-	~~[[Category: Dna binding protein-dna complex]]~~	+
-	~~[[Category: Dna methylation]]~~	+
-	~~[[Category: Mbd]]~~	+
-	~~[[Category: Sgc~~]]	+

OCA at 17:12, 20 November 2019

OCA — Wed, 20 Nov 2019 17:12:28 GMT

←Older revision		Revision as of 17:12, 20 November 2019
Line 1:		Line 1:

	==mbd of human mecp2 in complex with methylated DNA==		==mbd of human mecp2 in complex with methylated DNA==
-	<StructureSection load='6c1y' size='340' side='right' caption='[[6c1y]], [[Resolution\|resolution]] 2.30Å' scene=''>	+	<StructureSection load='6c1y' size='340' side='right'caption='[[6c1y]], [[Resolution\|resolution]] 2.30Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[6c1y]] is a 6 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=6C1Y OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=6C1Y FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[6c1y]] is a 6 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=6C1Y OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=6C1Y FirstGlance]. <br>
	</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=UNX:UNKNOWN+ATOM+OR+ION'>UNX</scene></td></tr>		</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=UNX:UNKNOWN+ATOM+OR+ION'>UNX</scene></td></tr>
	<tr id='NonStdRes'><td class="sblockLbl"><b>[[Non-Standard_Residue\|NonStd Res:]]</b></td><td class="sblockDat"><scene name='pdbligand=5CM:5-METHYL-2-DEOXY-CYTIDINE-5-MONOPHOSPHATE'>5CM</scene></td></tr>		<tr id='NonStdRes'><td class="sblockLbl"><b>[[Non-Standard_Residue\|NonStd Res:]]</b></td><td class="sblockDat"><scene name='pdbligand=5CM:5-METHYL-2-DEOXY-CYTIDINE-5-MONOPHOSPHATE'>5CM</scene></td></tr>
		+	<tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">MECP2 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
	<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=6c1y FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6c1y OCA], [http://pdbe.org/6c1y PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=6c1y RCSB], [http://www.ebi.ac.uk/pdbsum/6c1y PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=6c1y ProSAT]</span></td></tr>		<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=6c1y FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6c1y OCA], [http://pdbe.org/6c1y PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=6c1y RCSB], [http://www.ebi.ac.uk/pdbsum/6c1y PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=6c1y ProSAT]</span></td></tr>
	</table>		</table>
Line 12:		Line 13:
	== Function ==		== Function ==
	[[http://www.uniprot.org/uniprot/MECP2_HUMAN MECP2_HUMAN]] Chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair. It is not influenced by sequences flanking the methyl-CpGs. Mediates transcriptional repression through interaction with histone deacetylase and the corepressor SIN3A.		[[http://www.uniprot.org/uniprot/MECP2_HUMAN MECP2_HUMAN]] Chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair. It is not influenced by sequences flanking the methyl-CpGs. Mediates transcriptional repression through interaction with histone deacetylase and the corepressor SIN3A.
		+	<div style="background-color:#fffaf0;">
		+	== Publication Abstract from PubMed ==
		+	MeCP2 is an abundant protein, involved in transcriptional repression by binding to CG and non-CG methylated DNA. However, MeCP2 might also function as a transcription activator as MeCP2 is found bound to sparsely methylated promoters of actively expressed genes. Furthermore, Attachment Region Binding Protein (ARBP), the chicken ortholog of MeCP2, has been reported to bind to Matrix/scaffold attachment regions (MARs/SARs) DNA with an unmethylated 5'-CAC/GTG-3' consensus sequence. In our previous study, although we have systemically measured the binding abilities of MBDs to unmethylated CAC/GTG DNA and the complex structures reveal that the MBD2-MBD (MBD of MBD2) binds to the unmethylated CAC/GTG DNA by recognizing the complementary GTG trinucleotide, how the MeCP2-MBD (MBD of MeCP2) recognizes the unmethylated CAC/GTG DNA, especially the MARs DNA, is still unclear. In this study, we investigated the binding characteristics of MeCP2 in recognizing unmethylated 5'-CAC/GTG-3' motif containing DNA by binding and structural studies. We found that MeCP2-MBD binds to MARs DNA with a comparable binding affinity to mCG DNA, and the MeCP2-CAC/GTG complex structure revealed that MeCP2 residues R111 and R133 form base-specific interactions with the GTG motif. For comparison, we also determined crystal structures of the MeCP2-MBD bound to mCG and mCAC/GTG DNA, respectively. Together, these crystal structures illustrate the adaptability of the MeCP2-MBD toward the GTG motif as well as the mCG DNA, and also provide structural basis of a biological role of MeCP2 as a transcription activator and its disease implications in Rett syndrome.
		+
		+	Plasticity at the DNA recognition site of the MeCP2 mCG-binding domain.,Lei M, Tempel W, Chen S, Liu K, Min J Biochim Biophys Acta Gene Regul Mech. 2019 Sep;1862(9):194409. doi:, 10.1016/j.bbagrm.2019.194409. Epub 2019 Jul 26. PMID:31356990<ref>PMID:31356990</ref>
		+
		+	From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br>
		+	</div>
		+	<div class="pdbe-citations 6c1y" style="background-color:#fffaf0;"></div>
		+
		+	==See Also==
		+	*[[Methyl CpG binding protein 3D structures\|Methyl CpG binding protein 3D structures]]
	== References ==		== References ==
	<references/>		<references/>
	__TOC__		__TOC__
	</StructureSection>		</StructureSection>
		+	[[Category: Human]]
		+	[[Category: Large Structures]]
	[[Category: Arrowsmith, C H]]		[[Category: Arrowsmith, C H]]
	[[Category: Bian, C]]		[[Category: Bian, C]]

OCA at 06:35, 15 February 2018

OCA — Thu, 15 Feb 2018 06:35:20 GMT

←Older revision		Revision as of 06:35, 15 February 2018
Line 1:		Line 1:
-	'''Unreleased structure'''

-	~~The entry~~ 6c1y is ~~ON HOLD until Feb 14 2019~~	+	==mbd of human mecp2 in complex with methylated DNA==
-		+	<StructureSection load='6c1y' size='340' side='right' caption='[[6c1y]], [[Resolution\|resolution]] 2.30Å' scene=''>
-	~~Authors~~: ~~Liu~~, K., ~~Bian~~, C., ~~Tempel~~, W., ~~Wernimont~~, A.K., ~~Arrowsmith~~, C.H., ~~Bountra, C~~., ~~Edwards~~, A.M., ~~Min~~, J., ~~Structural Genomics Consortium~~ (~~SGC~~)	+	== Structural highlights ==
-		+	<table><tr><td colspan='2'>[[6c1y]] is a 6 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=6C1Y OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=6C1Y FirstGlance]. <br>
-	~~Description~~: ~~mbd~~ of ~~human mecp2~~ in ~~complex~~ with ~~methylated DNA~~	+	</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=UNX:UNKNOWN+ATOM+OR+ION'>UNX</scene></td></tr>
-	[[~~Category~~: ~~Unreleased Structures~~]]	+	<tr id='NonStdRes'><td class="sblockLbl"><b>[[Non-Standard_Residue\|NonStd Res:]]</b></td><td class="sblockDat"><scene name='pdbligand=5CM:5-METHYL-2-DEOXY-CYTIDINE-5-MONOPHOSPHATE'>5CM</scene></td></tr>
-	[[Category: ~~Wernimont~~, ~~A.K~~]]	+	<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=6c1y FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6c1y OCA], [http://pdbe.org/6c1y PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=6c1y RCSB], [http://www.ebi.ac.uk/pdbsum/6c1y PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=6c1y ProSAT]</span></td></tr>
		+	</table>
		+	== Disease ==
		+	[[http://www.uniprot.org/uniprot/MECP2_HUMAN MECP2_HUMAN]] Defects in MECP2 may be a cause of Angelman syndrome (AS) [MIM:[http://omim.org/entry/105830 105830]]; also known as happy puppet syndrome. AS is a neurodevelopmental disorder characterized by severe mental retardation, absent speech, ataxia, sociable affect and dysmorphic facial features. AS and Rett syndrome have overlapping clinical features.<ref>PMID:11376998</ref> <ref>PMID:11283202</ref> Defects in MECP2 are the cause of mental retardation syndromic X-linked type 13 (MRXS13) [MIM:[http://omim.org/entry/300055 300055]]. Mental retardation is a mental disorder characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRXS13 patients manifest mental retardation associated with other variable features such as spasticity, episodes of manic depressive psychosis, increased tone and macroorchidism.<ref>PMID:10986043</ref> <ref>PMID:11007980</ref> <ref>PMID:11309367</ref> <ref>PMID:11885030</ref> <ref>PMID:12325019</ref> <ref>PMID:12161600</ref> <ref>PMID:11805248</ref> <ref>PMID:12615169</ref> <ref>PMID:16966553</ref> Defects in MECP2 are the cause of Rett syndrome (RTT) [MIM:[http://omim.org/entry/312750 312750]]. RTT is an X-linked dominant disease, it is a progressive neurologic developmental disorder and one of the most common causes of mental retardation in females. Patients appear to develop normally until 6 to 18 months of age, then gradually lose speech and purposeful hand movements and develop microcephaly, seizures, autism, ataxia, intermittent hyperventilation, and stereotypic hand movements. After initial regression, the condition stabilizes and patients usually survive into adulthood.<ref>PMID:11376998</ref> <ref>PMID:11283202</ref> <ref>PMID:12161600</ref> <ref>PMID:15034579</ref> <ref>PMID:10577905</ref> <ref>PMID:10508514</ref> <ref>PMID:11055898</ref> <ref>PMID:10767337</ref> <ref>PMID:10814719</ref> <ref>PMID:10944854</ref> <ref>PMID:10745042</ref> <ref>PMID:10991688</ref> <ref>PMID:10991689</ref> <ref>PMID:11706982</ref> <ref>PMID:11738883</ref> <ref>PMID:11241840</ref> <ref>PMID:11269512</ref> <ref>PMID:11402105</ref> <ref>PMID:12567420</ref> <ref>PMID:12966522</ref> <ref>PMID:12966523</ref> <ref>PMID:15057977</ref> Defects in MECP2 may be the cause of susceptibility autism X-linked type 3 (AUTSX3) [MIM:[http://omim.org/entry/300496 300496]]. AUTSX3 is a pervasive developmental disorder (PDD), prototypically characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age.<ref>PMID:12770674</ref> Defects in MECP2 are the cause of encephalopathy neonatal severe due to MECP2 mutations (ENS-MECP2) [MIM:[http://omim.org/entry/300673 300673]]. Note=The MECP2 gene is mutated in Rett syndrome, a severe neurodevelopmental disorder that almost always occurs in females. Although it was first thought that MECP2 mutations causing Rett syndrome were lethal in males, later reports identified a severe neonatal encephalopathy in surviving male sibs of patients with Rett syndrome. Additional reports have confirmed a severe phenotype in males with Rett syndrome-associated MECP2 mutations.<ref>PMID:11238684</ref> Defects in MECP2 are the cause of mental retardation syndromic X-linked Lubs type (MRXSL) [MIM:[http://omim.org/entry/300260 300260]]. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRXSL patients manifest mental retardation associated with variable features. They include swallowing dysfunction and gastroesophageal reflux with secondary recurrent respiratory infections, hypotonia, mild myopathy and characteristic facies such as downslanting palpebral fissures, hypertelorism and a short nose with a low nasal bridge. Note=Increased dosage of MECP2 due to gene duplication appears to be responsible for the mental retardation phenotype.
		+	== Function ==
		+	[[http://www.uniprot.org/uniprot/MECP2_HUMAN MECP2_HUMAN]] Chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair. It is not influenced by sequences flanking the methyl-CpGs. Mediates transcriptional repression through interaction with histone deacetylase and the corepressor SIN3A.
		+	== References ==
		+	<references/>
		+	__TOC__
		+	</StructureSection>
		+	[[Category: Arrowsmith, C H]]
	[[Category: Bian, C]]		[[Category: Bian, C]]
		+	[[Category: Bountra, C]]
		+	[[Category: Edwards, A M]]
		+	[[Category: Liu, K]]
	[[Category: Min, J]]		[[Category: Min, J]]
-	~~[[Category: Edwards, A.M]]~~	+	[[Category: Structural genomic]]
-	~~[[Category: Arrowsmith, C.H]]~~	+
-	[[Category: Structural ~~Genomics Consortium (Sgc)]]~~	+
-	~~[[Category: Liu, K]]~~	+
-	~~[[Category: Bountra, C~~]]	+
	[[Category: Tempel, W]]		[[Category: Tempel, W]]
		+	[[Category: Wernimont, A K]]
		+	[[Category: Dna binding protein-dna complex]]
		+	[[Category: Dna methylation]]
		+	[[Category: Mbd]]
		+	[[Category: Sgc]]

OCA at 05:07, 7 February 2018

OCA — Wed, 07 Feb 2018 05:07:28 GMT

←Older revision		Revision as of 05:07, 7 February 2018
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	'''Unreleased structure'''		'''Unreleased structure'''

-	The entry 6c1y is ON HOLD until ~~Mar 21~~ 2019	+	The entry 6c1y is ON HOLD until Feb 14 2019

	Authors: Liu, K., Bian, C., Tempel, W., Wernimont, A.K., Arrowsmith, C.H., Bountra, C., Edwards, A.M., Min, J., Structural Genomics Consortium (SGC)		Authors: Liu, K., Bian, C., Tempel, W., Wernimont, A.K., Arrowsmith, C.H., Bountra, C., Edwards, A.M., Min, J., Structural Genomics Consortium (SGC)

OCA at 17:17, 24 January 2018

OCA — Wed, 24 Jan 2018 17:17:06 GMT

←Older revision		Revision as of 17:17, 24 January 2018
Line 1:		Line 1:
	'''Unreleased structure'''		'''Unreleased structure'''

-	The entry 6c1y is ON HOLD	+	The entry 6c1y is ON HOLD until Mar 21 2019

	Authors: Liu, K., Bian, C., Tempel, W., Wernimont, A.K., Arrowsmith, C.H., Bountra, C., Edwards, A.M., Min, J., Structural Genomics Consortium (SGC)		Authors: Liu, K., Bian, C., Tempel, W., Wernimont, A.K., Arrowsmith, C.H., Bountra, C., Edwards, A.M., Min, J., Structural Genomics Consortium (SGC)
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	Description: mbd of human mecp2 in complex with methylated DNA		Description: mbd of human mecp2 in complex with methylated DNA
	[[Category: Unreleased Structures]]		[[Category: Unreleased Structures]]
-	[[Category: Bian, C]]
-	[[Category: Arrowsmith, C.H]]
-	[[Category: Liu, K]]
	[[Category: Wernimont, A.K]]		[[Category: Wernimont, A.K]]
		+	[[Category: Bian, C]]
	[[Category: Min, J]]		[[Category: Min, J]]
	[[Category: Edwards, A.M]]		[[Category: Edwards, A.M]]
		+	[[Category: Arrowsmith, C.H]]
	[[Category: Structural Genomics Consortium (Sgc)]]		[[Category: Structural Genomics Consortium (Sgc)]]
		+	[[Category: Liu, K]]
	[[Category: Bountra, C]]		[[Category: Bountra, C]]
	[[Category: Tempel, W]]		[[Category: Tempel, W]]

OCA: Protected "6c1y" [edit=sysop:move=sysop]

OCA — Wed, 17 Jan 2018 05:42:23 GMT

Protected "6c1y" [edit=sysop:move=sysop]

←Older revision

Revision as of 05:42, 17 January 2018

OCA: New page: '''Unreleased structure''' The entry 6c1y is ON HOLD Authors: Liu, K., Bian, C., Tempel, W., Wernimont, A.K., Arrowsmith, C.H., Bountra, C., Edwards, A.M., Min, J., Structural Genomics ...

OCA — Wed, 17 Jan 2018 05:42:22 GMT

New page: '''Unreleased structure''' The entry 6c1y is ON HOLD Authors: Liu, K., Bian, C., Tempel, W., Wernimont, A.K., Arrowsmith, C.H., Bountra, C., Edwards, A.M., Min, J., Structural Genomics ...

New page

'''Unreleased structure'''

The entry 6c1y is ON HOLD

Authors: Liu, K., Bian, C., Tempel, W., Wernimont, A.K., Arrowsmith, C.H., Bountra, C., Edwards, A.M., Min, J., Structural Genomics Consortium (SGC)

Description: mbd of human mecp2 in complex with methylated DNA
[[Category: Unreleased Structures]]
[[Category: Bian, C]]
[[Category: Arrowsmith, C.H]]
[[Category: Liu, K]]
[[Category: Wernimont, A.K]]
[[Category: Min, J]]
[[Category: Edwards, A.M]]
[[Category: Structural Genomics Consortium (Sgc)]]
[[Category: Bountra, C]]
[[Category: Tempel, W]]