title: Characterization of the gene encoding mouse retinoblastoma binding protein-7, a component of chromatin-remodeling complexes.
abstract: RBBP7 is a highly conserved WD-repeat protein that interacts with histone deacetylases and is a component of several co-repressor complexes. The mouse gene Rbbp7 spans approximately 20 kb, consists of at least 12 exons, and contains a C/T polymorphism in the 3' splice acceptor region of intron 3. We found that Rbbp7 contains a TATA-less promoter with multiple transcription initiation sites. In transient transfection assays, we identified potential positive regulatory elements upstream of the proximal promoter at -668 to -1710. RBBP7 protein is detectable from at least day 9.5 of embryogenesis and is strongly expressed in the developing kidney and brain. Consistent with its association with co-repressor complexes, we demonstrate that RBBP7 represses the c-FOS transactivation domain in response to mitogen stimulation. We have also excluded human RBBP7 as a candidate gene in six patients that exhibit X-linked mental retardation, a heterogeneous developmental disorder that has been linked in some cases to mutations in genes involved in chromatin remodeling.
authors.affiliation: Renal Division, Washington University School of Medicine, Box 8126, 660 S. Euclid Ave. St. Louis, Missouri 63110, USA.
authors.forename: Jing
authors.initials: J
authors.lastname: Yang
authors.forename: Susan
authors.initials: S
authors.lastname: Kiefer
authors.forename: Michael
authors.initials: M
authors.lastname: Rauchman
mesh_terms: D000818:Animals; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics* / Q000378:metabolism; D002843:Chromatin / Q000378:metabolism*; D015536:Down-Regulation; D006801:Humans; D038901:X-Linked Intellectual Disability / Q000235:genetics; D051379:Mice; D008969:Molecular Sequence Data; D009687:Nuclear Proteins; D056524:Retinoblastoma-Binding Protein 7; D016385:TATA Box; D024363:Transcription Initiation Site; D014158:Transcription, Genetic
chemical_list: D002352:Carrier Proteins; D002843:Chromatin; D009687:Nuclear Proteins; C490746:RBBP7 protein, human; C096378:Rbbp7 protein, mouse; D056524:Retinoblastoma-Binding Protein 7