title: Premature suture closure and ectopic cranial bone in mice expressing Msx2 transgenes in the developing skull.
abstract: The coordinate growth of the brain and skull is achieved through a series of interactions between the developing brain, the growing bones of the skull, and the fibrous joints, or sutures, that unite the bones. These interactions couple the expansion of the brain to the growth of the bony plates at the sutures. Craniosynostosis, the premature fusion of the bones of the skull, is a common birth defect (1 in 3000 live births) that disrupts coordinate growth and often results in profoundly abnormal skull shape. Individuals affected with Boston-type craniosynostosis, an autosomal dominant disorder, bear a mutated copy of MSX2, a homeobox gene thought to function in tissue interactions. Here we show that expression of the mouse counterpart of this mutant gene in the developing skulls of transgenic mice causes craniosynostosis and ectopic cranial bone. These mice provide a transgenic model of craniosynostosis as well as a point of entry into the molecular mechanisms that coordinate the growth of the brain and skull.
authors.affiliation: Department of Biochemistry and Molecular Biology, Kenneth R. Norris Cancer Hospital and Institute, Los Angeles, CA 90033, USA.
authors.forename: Y H
authors.initials: YH
authors.lastname: Liu
authors.forename: R
authors.initials: R
authors.lastname: Kundu
authors.forename: L
authors.initials: L
authors.lastname: Wu
authors.forename: W
authors.initials: W
authors.lastname: Luo
authors.forename: M A
authors.initials: MA
authors.lastname: Ignelzi
authors.forename: M L
authors.initials: ML
authors.lastname: Snead
authors.forename: R E
authors.initials: RE
authors.lastname: Maxson
mesh_terms: D000818:Animals; D003398:Craniosynostoses / Q000196:embryology / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000096:biosynthesis / Q000235:genetics*; D005260:Female; D005801:Genes, Homeobox; D006639:Histidine; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D017403:In Situ Hybridization; D007231:Infant, Newborn; D008297:Male; D051379:Mice; D008815:Mice, Inbred Strains; D008822:Mice, Transgenic; D017354:Point Mutation; D011392:Proline; D012886:Skull / Q000002:abnormalities* / Q000166:cytology / Q000196:embryology* / Q000378:metabolism
chemical_list: D004268:DNA-Binding Proteins; D018398:Homeodomain Proteins; C084119:MSX2 protein; D006639:Histidine; D011392:Proline