title: Imprinting status of paternally imprinted DLX5 gene in Japanese patients with Rett syndrome.
abstract: Rett syndrome (RTT) is an X-linked severe neurodevelopmental disorder mostly affecting female and is mainly caused by mutations of methyl-CpG-binding protein 2 gene (MECP2). MECP2, which has a crucial role for transcriptional repression and chromatin remodeling, consists of methyl-CpG binding domain (MBD) and transcriptional repression domain (TRD). Paternally imprinted distal-less homeobox gene 5 (DLX5), that has an important role for the development of gamma-aminobutyric acid (GABA)-ergic neurons, was identified as a target of MECP2 recently. We selected the 12 samples from the 40 RTT lymphoblast cell lines by a mononucleotide repeat polymorphism within the 3'UTR of DLX5. In 12 samples, 5 and 6 samples have the mutations located in MBD and TRD, respectively. No expression and 25-75% expression of the mutated MECP2 allele were detected in 4 samples with MBD mutation and 4 samples with TRD mutation. In this study, the expression of mutated MECP2 alleles was low especially in the samples with the MBD mutation suggesting the biased frequency of the cells during the culture. However, a sample with high expression of mutated MECP2 in TRD mutation showed bialleic expression of DLX5 suggesting loss of imprinting.
authors.affiliation: Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University, 86 Nishicho, Yonago, Tottori 683-8503, Japan.
authors.forename: Noriko
authors.initials: N
authors.lastname: Itaba-Matsumoto
authors.forename: Shinji
authors.initials: S
authors.lastname: Maegawa
authors.forename: Hidehisa
authors.initials: H
authors.lastname: Yamagata
authors.forename: Ikuko
authors.initials: I
authors.lastname: Kondo
authors.forename: Mitsuo
authors.initials: M
authors.lastname: Oshimura
authors.forename: Eiji
authors.initials: E
authors.lastname: Nanba
mesh_terms: D044466:Asian People; D001483:Base Sequence; D002460:Cell Line; D004252:DNA Mutational Analysis; D005260:Female; D018392:Genomic Imprinting; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics; D011110:Polymorphism, Genetic; D015518:Rett Syndrome / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C100596:DLX5 protein, human; D018398:Homeodomain Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D014157:Transcription Factors