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The purpose of this study was to investigate the role of evolutionarily conserved <jats:italic>cis-<\/jats:italic>elements in regulating the post-transcriptional expression of the MECP2 gene and to explore their possible correlations with a mutation that is known to cause mental retardation.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>A bioinformatics approach was used to map evolutionarily conserved <jats:italic>cis<\/jats:italic>-regulatory elements in the transcribed regions of the human MECP2 gene and its mammalian orthologs. <jats:italic>Cis-<\/jats:italic>regulatory motifs including G-quadruplexes, microRNA target sites, and AU-rich elements have gained significant importance because of their role in key biological processes and as therapeutic targets. We discovered in the 5\u2032-UTR (untranslated region) of MECP2 mRNA a highly conserved G-quadruplex which overlapped a known deletion in Rett syndrome patients with decreased levels of MeCP2 protein. We believe that this 5\u2032-UTR G-quadruplex could be involved in regulating MECP2 translation. We mapped additional evolutionarily conserved G-quadruplexes, microRNA target sites, and AU-rich elements in the key sections of both untranslated regions. Our studies suggest the regulation of translation, mRNA turnover, and development-related alternative MECP2 polyadenylation, putatively involving interactions of conserved <jats:italic>cis-<\/jats:italic>regulatory elements with their respective <jats:italic>trans<\/jats:italic> factors and complex interactions among the <jats:italic>trans<\/jats:italic> factors themselves. We discovered highly conserved G-quadruplex motifs that were more prevalent near alternative splice sites as compared to the constitutive sites of the MECP2 gene. We also identified a pair of overlapping G-quadruplexes at an alternative 5\u2032 splice site that could potentially regulate alternative splicing in a negative as well as a positive way in the MECP2 pre-mRNAs.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>A Rett syndrome mutation with decreased protein expression was found to be associated with a conserved G-quadruplex. Our studies suggest that MECP2 post-transcriptional gene expression could be regulated by several evolutionarily conserved <jats:italic>cis-<\/jats:italic>elements like G-quadruplex motifs, microRNA target sites, and AU-rich elements. This phylogenetic analysis has provided some interesting and valuable insights into the regulation of the MECP2 gene involved in autism.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1479-7364-7-19","type":"journal-article","created":{"date-parts":[[2013,9,16]],"date-time":"2013-09-16T10:14:44Z","timestamp":1379326484000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Role of conserved cis-regulatory elements in the post-transcriptional regulation of the human MECP2 gene involved in autism"],"prefix":"10.1186","volume":"7","author":[{"given":"Joetsaroop S","family":"Bagga","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lawrence A","family":"D\u2019Antonio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,9,16]]},"reference":[{"key":"50_CR1","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1016\/j.gde.2007.02.003","volume":"17","author":"LH Chadwick","year":"2007","unstructured":"Chadwick LH, Wade PA: MeCP2 in Rett syndrome: transcriptional repressor or chromatin architectural protein?. 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