title: Molecular characterization of GDD1/TMEM16E, the gene product responsible for autosomal dominant gnathodiaphyseal dysplasia.
abstract: The human GDD1/TMEM16E gene has been found to be mutated in gnathodiaphyseal dysplasia, an unusual skeletal syndrome with autosomal dominant inheritance. The molecular and biochemical function(s) of GDD1 protein has not yet been elucidated. In this study, we examined the murine GDD1 gene expression pattern during embryonic development, and characterized the cellular and tissue localizations of its gene product using a GDD1-specific antibody. In the developing embryos, GDD1 mRNA expression was principally associated with differentiating and developing somites, with a highly complex spatiotemporal pattern that involved the myotomal and sclerotomal lineages of somites. Biochemical studies indicated that GDD1 protein is an integral membrane glycoprotein that resides predominantly in intracellular vesicles. Immunohistochemical analysis showed a high level of murine GDD1 protein expression in cardiac and skeletal muscle tissues, and in growth-plate chondrocytes and osteoblasts in bone. These observations suggest diverse cellular role(s) of GDD1 in the development of musculoskeletal system.
authors.affiliation: Division of Cervico-Gnathostomatology, Hiroshima University Graduate School of Biomedical Sciences, Hiroshima, Japan.
authors.forename: Kuniko
authors.initials: K
authors.lastname: Mizuta
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: Katsutoshi
authors.initials: K
authors.lastname: Miyatake
authors.forename: Katsuyuki
authors.initials: K
authors.lastname: Miyawaki
authors.forename: Sumihare
authors.initials: S
authors.lastname: Noji
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Kamata
authors.forename: Mitsuo
authors.initials: M
authors.lastname: Itakura
mesh_terms: D000818:Animals; D001847:Bone Diseases / Q000378:metabolism*; D025063:Chromosome Disorders / Q000378:metabolism; D047108:Embryonic Development; D005799:Genes, Dominant; D008565:Membrane Proteins / Q000737:chemistry* / Q000378:metabolism*; D051379:Mice; D018482:Muscle, Skeletal / Q000378:metabolism*; D009206:Myocardium / Q000378:metabolism*; D009928:Organ Specificity; D014018:Tissue Distribution
chemical_list: C502024:GDD1 protein, mouse; D008565:Membrane Proteins