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Citation for Study 17761

Citation title: "MECP2, a gene associated with Rett syndrome in humans, shows conserved coding regions, independent Alu insertions, and a novel transcript across primate evolution ".

Study name: "MECP2, a gene associated with Rett syndrome in humans, shows conserved coding regions, independent Alu insertions, and a novel transcript across primate evolution ".

This study is part of submission 17761 (Status: Published).

Citation

Viana M.C., Menezes A., Moreira M.A., Pissinatti A., & Seuanez H.N. 2015. MECP2, a gene associated with Rett syndrome in humans, shows conserved coding regions, independent Alu insertions, and a novel transcript across primate evolution. BMC Genetics, .

Authors

• Viana M.C.
• Menezes A. (submitter) +55 21999654280
• Moreira M.A.
• Pissinatti A.
• Seuanez H.N.

Abstract

Background: The methyl-CpG Binding Protein 2 gene (MECP2) encodes amultifunctional protein comprising two isoforms involved in nuclear organization andregulation of splicing and mRNA template activity. This gene is normally expressed in all tissues, with a higher expression level in the brain during neuronal maturation. Loss ofMECP2 function is the primary cause of Rett syndrome (RTT) in humans, a dominant, X- linked disorder dramatically affecting neural and motor development. Results: We investigated the molecular evolution of MECP2 in several primate taxa including 36 species in 16 genera of neotropical (platyrrhine) primates. The coding region of the MECP2_e2 isoform showed a high level of evolutionary conservation among humans and other primates, with amino acid substitutions in 14 codons and one in-frame insertion of a single serine codon, between codons 357 and 358, in Ateles paniscus. Most substitutions occurred in noncritical regions of MECP2 and the majority of the algorithms used for analyzing selection did not provide evidence of positive selection. Conversely, we found 48 sites under negative selection in different regions, 23 of which were consistently found by three different algorithms. Similar to an inverted Alu insert found previously in a lesser ape at a parallel location, one Alu insertion of approximately 300 bp in Cebus and Sapajus was found in intron 3. Phylogenetic reconstruction of the intron 3 data provided a topology that was coincident with the consensus arrangement of the primate taxa. RNAseq data in the neotropical primate Callimico goeldii revealed a novel transcript consisting of a noncontinuous region of the human-homologous intron 2 in this species; this transcriptaccounted for two putative polypeptides. Conclusions: Despite the remarkable evolutionary conservation of MECP2, one in-frame insertion was observed in A. paniscus, and one region of intron 3 was affected by a trans- specific retrotransposition in two neotropical primate genera. Moreover, identification ofnovel MECP2 transcripts in Callimico suggests that part of a homologous human intronic region might be expressed, and that the potential open reading frame in this region might be a subject of interest in RTT patients who carry an apparently normal MECP2 sequence.

Keywords

MECP2 gene, Primates, Alu inserts, novel transcript

External links

About this resource

• Canonical resource URI: http://purl.org/phylo/treebase/phylows/study/TB2:S17761
• Other versions: Nexus NeXML
• Show BibTeX reference

  		@ARTICLE{TreeBASE2Ref24694,
  	 author = {Maria Carolina Viana and Albert  Menezes and Miguel A. M. Moreira and Alcides  Pissinatti and Hector Nicolas Seuanez},
  	 title = {MECP2, a gene associated with Rett syndrome in humans, shows conserved coding regions, independent Alu insertions, and a novel transcript across primate evolution },
  	 year = {2015},
  	 keywords = {MECP2 gene, Primates, Alu inserts, novel transcript },
  	 doi = {},
  	 url = {http://},
  	 pmid = {},
  	 journal = {BMC Genetics},
  	 volume = {},
  	 number = {},
  	 pages = {},
  	 abstract = {Background: The methyl-CpG Binding Protein 2 gene (MECP2) encodes amultifunctional protein comprising two isoforms involved in nuclear organization andregulation of splicing and mRNA template activity. This gene is normally expressed in all tissues, with a higher expression level in the brain during neuronal maturation. Loss ofMECP2 function is the primary cause of Rett syndrome (RTT) in humans, a dominant, X- linked disorder dramatically affecting neural and motor development. 
  Results: We investigated the molecular evolution of MECP2 in several primate taxa including 36 species in 16 genera of neotropical (platyrrhine) primates. The coding region of the MECP2_e2 isoform showed a high level of evolutionary conservation among humans and other primates, with amino acid substitutions in 14 codons and one in-frame insertion of a single serine codon, between codons 357 and 358, in Ateles paniscus. Most substitutions occurred in noncritical regions of MECP2 and the majority of the algorithms used for analyzing selection did not provide evidence of positive selection. Conversely, we found 48 sites under negative selection in different regions, 23 of which were consistently found by three different algorithms. Similar to an inverted Alu insert found previously in a lesser ape at a parallel location, one Alu insertion of approximately 300 bp in Cebus and Sapajus was found in intron 3. Phylogenetic reconstruction of the intron 3 data provided a topology that was coincident with the consensus arrangement of the primate taxa. RNAseq data in the neotropical primate Callimico goeldii revealed a novel transcript consisting of a noncontinuous region of the human-homologous intron 2 in this species; this transcriptaccounted for two putative polypeptides.
  Conclusions: Despite the remarkable evolutionary conservation of MECP2, one in-frame insertion was observed in A. paniscus, and one region of intron 3 was affected by a trans- specific retrotransposition in two neotropical primate genera. Moreover, identification ofnovel MECP2 transcripts in Callimico suggests that part of a homologous human intronic region might be expressed, and that the potential open reading frame in this region might be a subject of interest in RTT patients who carry an apparently normal MECP2 sequence.}
  }
  		

• Show RIS reference

  		TY  - JOUR
  ID  - 24694
  AU  - Viana,Maria Carolina
  AU  - Menezes,Albert 
  AU  - Moreira,Miguel A. M.
  AU  - Pissinatti,Alcides 
  AU  - Seuanez,Hector Nicolas
  T1  - MECP2, a gene associated with Rett syndrome in humans, shows conserved coding regions, independent Alu insertions, and a novel transcript across primate evolution 
  PY  - 2015
  KW  - MECP2 gene
  KW  - Primates
  KW  - Alu inserts
  KW  - novel transcript 
  UR  - http://dx.doi.org/
  N2  - Background: The methyl-CpG Binding Protein 2 gene (MECP2) encodes amultifunctional protein comprising two isoforms involved in nuclear organization andregulation of splicing and mRNA template activity. This gene is normally expressed in all tissues, with a higher expression level in the brain during neuronal maturation. Loss ofMECP2 function is the primary cause of Rett syndrome (RTT) in humans, a dominant, X- linked disorder dramatically affecting neural and motor development. 
  Results: We investigated the molecular evolution of MECP2 in several primate taxa including 36 species in 16 genera of neotropical (platyrrhine) primates. The coding region of the MECP2_e2 isoform showed a high level of evolutionary conservation among humans and other primates, with amino acid substitutions in 14 codons and one in-frame insertion of a single serine codon, between codons 357 and 358, in Ateles paniscus. Most substitutions occurred in noncritical regions of MECP2 and the majority of the algorithms used for analyzing selection did not provide evidence of positive selection. Conversely, we found 48 sites under negative selection in different regions, 23 of which were consistently found by three different algorithms. Similar to an inverted Alu insert found previously in a lesser ape at a parallel location, one Alu insertion of approximately 300 bp in Cebus and Sapajus was found in intron 3. Phylogenetic reconstruction of the intron 3 data provided a topology that was coincident with the consensus arrangement of the primate taxa. RNAseq data in the neotropical primate Callimico goeldii revealed a novel transcript consisting of a noncontinuous region of the human-homologous intron 2 in this species; this transcriptaccounted for two putative polypeptides.
  Conclusions: Despite the remarkable evolutionary conservation of MECP2, one in-frame insertion was observed in A. paniscus, and one region of intron 3 was affected by a trans- specific retrotransposition in two neotropical primate genera. Moreover, identification ofnovel MECP2 transcripts in Callimico suggests that part of a homologous human intronic region might be expressed, and that the potential open reading frame in this region might be a subject of interest in RTT patients who carry an apparently normal MECP2 sequence.
  L3  - 
  JF  - BMC Genetics
  VL  - 
  IS  - 
  ER  -