title: A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome.
abstract: Rett syndrome is caused by mutations in the gene MECP2 in approximately 80% of affected individuals. We describe a previously unknown MeCP2 isoform. Mutations unique to this isoform and the absence, until now, of identified mutations specific to the previously recognized protein indicate an important role for the newly discovered molecule in the pathogenesis of Rett syndrome.
authors.affiliation: Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.
authors.forename: Gevork N
authors.initials: GN
authors.lastname: Mnatzakanian
authors.forename: Hannes
authors.initials: H
authors.lastname: Lohi
authors.forename: Iulia
authors.initials: I
authors.lastname: Munteanu
authors.forename: Simon E
authors.initials: SE
authors.lastname: Alfred
authors.forename: Takahiro
authors.initials: T
authors.lastname: Yamada
authors.forename: Patrick J M
authors.initials: PJ
authors.lastname: MacLeod
authors.forename: Julie R
authors.initials: JR
authors.lastname: Jones
authors.forename: Stephen W
authors.initials: SW
authors.lastname: Scherer
authors.forename: N Carolyn
authors.initials: NC
authors.lastname: Schanen
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Friez
authors.forename: John B
authors.initials: JB
authors.lastname: Vincent
authors.forename: Berge A
authors.initials: BA
authors.lastname: Minassian
mesh_terms: D001483:Base Sequence; D002868:Chromosomal Proteins, Non-Histone; D017931:DNA Primers; D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2; D008969:Molecular Sequence Data; D016366:Open Reading Frames; D020033:Protein Isoforms / Q000235:genetics*; D012097:Repressor Proteins; D015518:Rett Syndrome / Q000235:genetics*
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D017931:DNA Primers; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D020033:Protein Isoforms; D012097:Repressor Proteins