title: Aebp2 as an epigenetic regulator for neural crest cells.
abstract: Aebp2 is a potential targeting protein for the mammalian Polycomb Repression Complex 2 (PRC2). We generated a mutant mouse line disrupting the transcription of Aebp2 to investigate its in vivo roles. Aebp2-mutant homozygotes were embryonic lethal while heterozygotes survived to adulthood with fertility. In developing mouse embryos, Aebp2 is expressed mainly within cells of neural crest origin. In addition, many heterozygotes display a set of phenotypes, enlarged colon and hypopigmentation, similar to those observed in human patients with Hirschsprung's disease and Waardenburg syndrome. These phenotypes are usually caused by the absence of the neural crest-derived ganglia in hindguts and melanocytes. ChIP analyses demonstrated that the majority of the genes involved in the migration and development process of neural crest cells are downstream target genes of AEBP2 and PRC2. Furthermore, expression analyses confirmed that some of these genes are indeed affected in the Aebp2 heterozygotes. Taken together, these results suggest that Aebp2 may regulate the migration and development of the neural crest cells through the PRC2-mediated epigenetic mechanism.
authors.affiliation: Department of Biological Sciences, Louisiana State University, Baton Rouge, Louisiana, United States of America.
authors.forename: Hana
authors.initials: H
authors.lastname: Kim
authors.forename: Keunsoo
authors.initials: K
authors.lastname: Kang
authors.forename: Muhammad B
authors.initials: MB
authors.lastname: Ekram
authors.forename: Tae-Young
authors.initials: TY
authors.lastname: Roh
authors.forename: Joomyeong
authors.initials: J
authors.lastname: Kim
mesh_terms: D000818:Animals; D015139:Blotting, Southern; D015153:Blotting, Western; D047369:Chromatin Immunoprecipitation; D004268:DNA-Binding Proteins / Q000502:physiology*; D057890:Epigenomics; D005260:Female; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D017403:In Situ Hybridization; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D018345:Mice, Knockout; D009432:Neural Crest / Q000196:embryology / Q000378:metabolism*; D009687:Nuclear Proteins / Q000502:physiology*; D063146:Polycomb-Group Proteins; D012333:RNA, Messenger / Q000235:genetics; D012097:Repressor Proteins / Q000235:genetics / Q000378:metabolism*; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: C541953:Aebp2 protein, mouse; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D063146:Polycomb-Group Proteins; D012333:RNA, Messenger; D012097:Repressor Proteins