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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.

journal_name

Biochem Biophys Res Commun

journal_title

Biochemical and biophysical research communications

authors

Tsutsumi S,Inoue H,Sakamoto Y,Mizuta K,Kamata N,Itakura M

doi

10.1016/j.bbrc.2005.03.226

subject

Has Abstract

pub_date

2005-06-17 00:00:00

pages

1099-106

issue

4

eissn

0006-291X

issn

1090-2104

pii

S0006-291X(05)00749-7

journal_volume

331

pub_type

杂志文章

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