title: Molecular cloning and characterization of the murine gnathodiaphyseal dysplasia gene GDD1.
abstract: Mutations in the GDD1 gene cause gnathodiaphyseal dysplasia, a rare human skeletal syndrome with autosomal dominant inheritance. The biochemical function(s) of GDD1 protein and the molecular pathophysiology of GDD1 mutations leading to GDD have not yet been elucidated. In this study, we characterized the complete cDNA sequence and genomic organization of the mouse GDD1 gene. Analysis of GDD1 mRNA revealed a complex alternative splicing pattern, involving five exons of the GDD1 gene. GDD1 isoforms lacking conserved amino acids at the N-terminus cytoplasmic tails, and with changes in transmembrane topology, are presumably associated with changes in protein functions and subcellular localizations of GDD1. We found GDD1 expression to be up-regulated during the course of myogenic differentiation in the murine pluripotent mesenchymal precursor cell line C2C12, whereas its expression was diminished during osteoblastic differentiation. These observations suggest diverse cellular roles of GDD1 protein.
authors.affiliation: Division of Genetic Information, Institute for Genome Research, The University of Tokushima, Tokushima, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Tsutsumi
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Inoue
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Sakamoto
authors.forename: Kuniko
authors.initials: K
authors.lastname: Mizuta
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Kamata
authors.forename: Mitsuo
authors.initials: M
authors.lastname: Itakura
mesh_terms: D017398:Alternative Splicing; D000818:Animals; D001483:Base Sequence; D015152:Blotting, Northern; D003001:Cloning, Molecular; D018076:DNA, Complementary; D008565:Membrane Proteins / Q000235:genetics*; D051379:Mice; D012333:RNA, Messenger; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D018076:DNA, Complementary; C502024:GDD1 protein, mouse; D008565:Membrane Proteins; D012333:RNA, Messenger