A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome.
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.
Mnatzakanian
Gevork N
GN
Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.
Lohi
Hannes
H
Munteanu
Iulia
I
Alfred
Simon E
SE
Yamada
Takahiro
T
MacLeod
Patrick J M
PJ
Jones
Julie R
JR
Scherer
Stephen W
SW
Schanen
N Carolyn
NC
Friez
Michael J
MJ
Vincent
John B
JB
Minassian
Berge A
BA
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*
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