Two studies in this issue1,2 indicate that loss-of-function mutations in the MSX2 homeobox gene result in failure of cranial fontanelle closure in both mouse and human, and that MSX2 dosage is critical to normal osteogenesis. Another study, also in this issue, indicates that a loss-of-function mutation in MSX1 results in human cleft palate3. Msx genes interact with other genes (for example, the gene encoding TGFβ3) to specify normal or cleft palate development, raising the possibilities of both prenatal diagnosis and therapeutic treatment of human cleft palate. The dose sensitivity and interaction of craniofacial genes may be the basis for generating the important subtle variations in human faces.
This is a preview of subscription content, log in via an institution to check access.
References
Wilkie, A.O.M. et al. Nature Genet. 24, 387– 390 (2000).
Satokata, I. et al. Nature Genet. 24, 391– 395 (2000).
van den Boogaard, M.J.H. Nature Genet. 24, 342–343 (2000).
Jabs, E.W. et al. Cell 75, 443–450 (1993).
Mackenzie, A. et al. Development 115, 403– 420 (1992).
Satokata, I. & Maas, R. Nature Genet 6, 348–356 (1994).
Beil, M. & Maas, R. Development 125, 4325–4333 (1998).
Vastardis, H. et al. Nature Genet 13, 417– 421 (1996).
Lidral, A.C. et al. Am. J. Hum. Genet 63, 557– 568 (1998).
Proetzel, G. et al. Nature Genet. 11, 409– 414 (1996).
Taya, Y. et al. Development 126, 3869– 3879 (1999).
Shah, M. et al. J. Cell Sci 108, 985– 1002 (1995).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Ferguson, M. A hole in the head. Nat Genet 24, 330–331 (2000). https://doi.org/10.1038/74132
Issue Date:
DOI: https://doi.org/10.1038/74132
- Springer Nature America, Inc.
This article is cited by
-
Palaeoneurological clues to the evolution of defining mammalian soft tissue traits
Scientific Reports (2016)
-
Msx homeobox gene family and craniofacial development
Cell Research (2003)