Craniofacial disorders caused by mutations in homeobox genes MSX1 and MSX2.
The molecular biology of the homeobox genes MSX1 and MSX2 is reviewed. In a selective type of tooth agenesis, an MSX1 G --> C transversion results in a missense mutation Arg31Pro. The phenotype is due to haploinsufficiency. Boston-type craniosynostosis involves an MSX2 C --> A transversion, resulting in a missense mutation Pro7His. Three different mutations on MSX2 cause parietal foramina by haploinsufficiency. These mutations, which result in decreased parietal ossification, are in marked contrast to the gain-of-function mutation for Boston-type craniosynostosis, which results in increased sutural ossification.
Cohen
M M
MM
Department of Oral and Maxillofacial Sciences, Dalhousie University, Halifax, Nova Scotia, Canada. remaclea@is.dal.ca
D000818:Animals; D000848:Anodontia / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics*; D003398:Craniosynostoses / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000378:metabolism; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D015536:Down-Regulation; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D051957:MSX1 Transcription Factor; D051379:Mice; D008954:Models, Biological; D008957:Models, Genetic; D020125:Mutation, Missense; D014070:Tooth / Q000254:growth & development / Q000502:physiology*; D014157:Transcription Factors
D004268:DNA-Binding Proteins; D018398:Homeodomain Proteins; D051957:MSX1 Transcription Factor; C084119:MSX2 protein; D014157:Transcription Factors; D004247:DNA