Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation

Jabs, E.W. et al. A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. Cell 75, 443–450 ( 1993).

Ma, L., Golden, S., Wu, L. & Maxson, R. The molecular basis of Boston-type craniosynostosis: the Pro148→His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences. Hum. Mol. Genet. 5 , 1915–1920 (1996).

Wilkie, A.O.M. et al. Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification. Nature Genet. 24, 387–390 (2000).

Liu, Y.H. et al. Msx2 gene dosage influences the number of proliferative osteogenic cells in growth centers of the developing murine skull: a possible mechanism for MSX2-mediated craniosynostosis in humans. Dev. Biol. 205, 260–274 ( 1999).

Dodig, M. et al. Ectopic Msx2 overexpression inhibits and Msx2 antisense stimulates calvarial osteoblast differentiation. Dev. Biol. 209, 298–307 (1999).

Newberry, E.P., Latifi, T. & Towler, D.A. Reciprocal regulation of osteocalcin transcription by the homeodomain proteins Msx2 and Dlx5. Biochemistry 37, 16360–16368 ( 1998).

Vortkamp, A. et al. Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein. Science 273, 613–622 (1996).

Karaplis, A.C. et al. Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene. Genes Dev. 8, 277–289 (1994).

Lanske, B. et al. PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth. Science 273, 663– 666 (1996).

Amizuka, N. et al. Haploinsufficiency of parathyroid hormone-related peptide (PTHrP) results in abnormal postnatal bone development. Dev. Biol. 175, 166–176 ( 1996).

Kite, W.C. Jr Seizures associated with the Catlin mark. Neurology 11, 345–348 (1961).

Pennachio, L.A. et al. Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice. Nature Genet. 20, 251–258 (1998).

Goldwitz, D. & Hamre, K. The cells and molecules that make a cerebellum. Trends Neurosci. 21, 375–382 (1998).

McKusick, V.A. Mendelian Inheritance in Man. Catalogs of Human Genes and Genetic Disorders (Johns Hopkins University Press, Baltimore, 1998).

Satokata, I. & Maas, R. Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development . Nature Genet. 6, 348– 356 (1994).

Bei, M. & Maas, R. FGFs and BMP4 induce both Msx1-independent and Msx1-dependent signaling pathways in early tooth development. Development 125, 4325–4333 (1998).

MacKenzie, A., Ferguson, M.W. & Sharpe, P.T. Expression patterns of the homeobox gene, Hox-8, in the mouse embryo suggest a role in specifying tooth initiation and shape. Development 115, 403– 420 (1992).

Hébert, J.M., Rosenquist, T., Gotz, J. & Martin, G.R. FGF5 as a regulator of the hair growth cycle: evidence from targeted and spontaneous mutations. Cell 78, 1017– 1025 (1994).

Sakahura, T. Mammary embryogenesis. in The Mammary Gland, Development, Regulation and Function (eds Neville, M.C. & Daniel, C.W.) 37– 66 (Plenum, New York, 1987).

Phippard, D.J. et al. Regulation of Msx-1, Msx-2, Bmp-2, and Bmp-4 during foetal and postnatal mammary gland development. Development 122, 2729–2737 (1996).

Reginelli, A.D., Wang, Y.Q., Sassoon, D. & Muneoka, K. Digit tip regeneration correlates with regions of Msx1 (Hox 7) expression in fetal and newborn mice. Development 121 , 1065–1076 (1995).

Little, B.B., Knoll, K.A., Klein, V.R. & Heller, K.B. Hereditary cranium bifidium and symmetric parietal formina are the same entity . Am. J. Med. Genet. 35, 453– 458 (1990).

Preis, S., Engelbrecht, V. & Lenard, H.G. Aplasia cutis congenita and enlarged parietal foramina (Catlin marks) in a family. Acta Paediatr. 84, 701–702 (1995).

Chrzanowska, K., Kozlowski, K. & Kowalska, A. Syndromic foramina parietalia permagna . Am. J. Med. Genet. 78, 401– 405 (1998).

Xu, P.-X. et al. Eya1 -deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia. Nature Genet. 23, 113–117 (1999).

Sakakura, Y., Fujiwara, N. & Nawa, T. Epithelial cytodifferentiation and extracellular matrix formation in enamel free areas of the occlusal cusp during development of mouse molars: light and electron microscopic studies. Am. J. Anat. 184, 287–297 ( 1989).

Paus, R. et al. A comprehensive guide for the recognition and classification of distinct stages of hair follicle morphogenesis. J. Invest. Dermatol. 113, 523–532 ( 1999).

Oro, A.E. et al. Basal cell carcinomas in mice overexpressing Sonic hedgehog. Science 276, 817–821 ( 1997).

van Genderen, C. et al. Development of several organs that require inductive epithelial-mesenchymal interactions is impaired in LEF-1 deficient mice. Genes Dev. 8, 2691–2703 (1994).