Rett Syndrome Protein: Difference between revisions
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== | ==Rett Syndrome Protein== | ||
<StructureSection load='1stp' size='340' side='right' caption='Caption for this structure' scene=''> | <StructureSection load='1stp' size='340' side='right' caption='Caption for this structure' scene=''> | ||
This is a default text for your page '''Rett Syndrome Protein'''. Click above on '''edit this page''' to modify. Be careful with the < and > signs. | This is a default text for your page '''Rett Syndrome Protein'''. Click above on '''edit this page''' to modify. Be careful with the < and > signs. | ||
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. | 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. | ||
== Structural highlights == | == Structural highlights == | ||
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</StructureSection> | </StructureSection> | ||
=='''Overview'''== | =='''Overview'''== | ||
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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.11 Therefore, females that are heterozygous are able to survive with the mutation within MeCP2 due to X inactivation.5 Males on the other hand, are typically unable to survive, or have severely shortened lifespan.5 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.5 T158M, which is the most common missense mutation causing Rett Syndrome by abolishing DNA binding because it disrupts this ASX-ST motif.1 Another well-known Rett inducing mutation, R106W, disrupts the ASX-ST motif by stabilizing hydrogen bonds between Arg 106 and Thr 158 and Val 159.1 These errors in MeCP2 result in loss of purposeful hand movements, slowed brain and head growth, gait abnormalities, and mental retardation.5 In addition, most Rett syndrome patients experience seizures, breathing irregularities, scoliosis, and an abnormal cardiac cycle.5 | 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.11 Therefore, females that are heterozygous are able to survive with the mutation within MeCP2 due to X inactivation.5 Males on the other hand, are typically unable to survive, or have severely shortened lifespan.5 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.5 T158M, which is the most common missense mutation causing Rett Syndrome by abolishing DNA binding because it disrupts this ASX-ST motif.1 Another well-known Rett inducing mutation, R106W, disrupts the ASX-ST motif by stabilizing hydrogen bonds between Arg 106 and Thr 158 and Val 159.1 These errors in MeCP2 result in loss of purposeful hand movements, slowed brain and head growth, gait abnormalities, and mental retardation.5 In addition, most Rett syndrome patients experience seizures, breathing irregularities, scoliosis, and an abnormal cardiac cycle.5 | ||
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 | 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 | ||
== References == | |||
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