Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human (original) (raw)
Karsenty, G. The genetic transformation of bone biology. Genes Dev.13, 3037–3051 (1999). ArticleCAS Google Scholar
Teitelbaum, S.L. Bone resorption by osteoclasts. Science289, 1504–1508 (2000). ArticleCAS Google Scholar
Lazner, F., Gowen, M., Pavasovic, D. & Kola, I. Osteopetrosis and osteoporosis: two sides of the same coin. Hum. Mol. Genet.8, 1839–1846 (1999). ArticleCAS Google Scholar
Reeves, J.D., August, C.S., Humbert, J.R. & Weston, W.L. Host defense in infantile osteopetrosis. Pediatrics64, 202–206 (1979). CASPubMed Google Scholar
Wilson, C.J. & Vellodi, A. Autosomal recessive osteopetrosis: diagnosis, management, and outcome. Arch. Dis. Child83, 449–452 (2000). ArticleCAS Google Scholar
Gerritsen, E.J. et al. Bone marrow transplantation for autosomal recessive osteopetrosis. A report from the Working Party on Inborn Errors of the European Bone Marrow Transplantation Group. J. Pediatr.125, 896–902 (1994). ArticleCAS Google Scholar
Eapen, M., Davies, S.M., Ramsay, N.K. & Orchard, P.J. Hematopoietic stem cell transplantation for infantile osteopetrosis. Bone Marrow Transplant.22, 941–946 (1998). ArticleCAS Google Scholar
Frattini, A. et al. Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. Nat. Genet.25, 343–346 (2000). ArticleCAS Google Scholar
Sobacchi, C. et al. The mutational spectrum of human malignant autosomal recessive osteopetrosis. Hum. Mol. Genet.10, 1767–1773 (2001). ArticleCAS Google Scholar
Kornak, U. et al. Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man. Cell104, 205–215 (2001). ArticleCAS Google Scholar
Tondravi, M.M. et al. Osteopetrosis in mice lacking haematopoietic transcription factor PU.1. Nature386, 81–84 (1997). ArticleCAS Google Scholar
Iotsova, V. et al. Osteopetrosis in mice lacking NF-κB1 and NF-κB2. Nat. Med.3, 1285–1289 (1997). ArticleCAS Google Scholar
Yoshida, H. et al. The murine mutation osteopetrosis is in the coding region of the macrophage colony stimulating factor gene. Nature345, 442–444 (1990). ArticleCAS Google Scholar
Dai, X.M. et al. Targeted disruption of the mouse colony-stimulating factor 1 receptor gene results in osteopetrosis, mononuclear phagocyte deficiency, increased primitive progenitor cell frequencies, and reproductive defects. Blood99, 111–120 (2002). ArticleCAS Google Scholar
Johnson, R.S., Spiegelman, B.M. & Papaioannou, V. Pleiotropic effects of a null mutation in the c-fos proto-oncogene. Cell71, 577–586 (1992). ArticleCAS Google Scholar
Wang, Z.Q. et al. Bone and haematopoietic defects in mice lacking c-fos. Nature360, 741–745 (1992). ArticleCAS Google Scholar
Kong, Y.Y. et al. OPGL is a key regulator of osteoclastogenesis, lymphocyte development and lymph-node organogenesis. Nature397, 315–323 (1999). ArticleCAS Google Scholar
Begg, S.K. et al. Delayed hematopoietic development in osteopetrotic (op/op) mice. J. Exp. Med.177, 237–242 (1993). ArticleCAS Google Scholar
Thesingh, C.W. & Scherft, J.P. Fusion disability of embryonic osteoclast precursor cells and macrophages in the microphthalmic osteopetrotic mouse. Bone6, 43–52 (1985). ArticleCAS Google Scholar
Hodgkinson, C.A. et al. Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein. Cell74, 395–404 (1993). ArticleCAS Google Scholar
Soriano, P., Montgomery, C., Geske, R. & Bradley, A. Targeted disruption of the c-src proto-oncogene leads to osteopetrosis in mice. Cell64, 693–702 (1991). ArticleCAS Google Scholar
Lomaga, M.A. et al. TRAF6 deficiency results in osteopetrosis and defective interleukin-1, CD40, and LPS signaling. Genes Dev.13, 1015–1024 (1999). ArticleCAS Google Scholar
Li, Y.P., Chen, W., Liang, Y., Li, E. & Stashenko, P. Atp6i-deficient mice exhibit severe osteopetrosis due to loss of osteoclast-mediated extracellular acidification. Nat. Genet.23, 447–451 (1999). ArticleCAS Google Scholar
Scimeca, J.C. et al. The gene encoding the mouse homologue of the human osteoclast-specific 116-kDa V-ATPase subunit bears a deletion in osteosclerotic (oc/oc) mutants. Bone26, 207–213 (2000). ArticleCAS Google Scholar
Gruneberg, H. Grey-lethal, a new mutation in the house mouse. J. Heredity27, 105–109 (1936). Article Google Scholar
Walker, D.G. Bone resorption restored in osteopetrotic mice by transplants of normal bone marrow and spleen cells. Science190, 784–785 (1975). ArticleCAS Google Scholar
Rajapurohitam, V. et al. The mouse osteopetrotic grey-lethal mutation induces a defect in osteoclast maturation/function. Bone28, 513–523 (2001). ArticleCAS Google Scholar
Vacher, J. & Bernard, H. Genetic localization and transmission of the mouse osteopetrotic grey-lethal mutation. Mamm. Genome10, 239–243 (1999). ArticleCAS Google Scholar
Chalhoub, N., Benachenhou, N. & Vacher, J. Physical and transcriptional map of the mouse Chromosome 10 proximal region syntenic to human 6q16-q21. Mamm. Genome12, 887–892 (2001). ArticleCAS Google Scholar
Zhang, Q.H. et al. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. Genome Res.10, 1546–1560 (2000). ArticleCAS Google Scholar
Brown, D., Hirsch, S. & Gluck, S. Localization of a proton-pumping ATPase in rat kidney. J. Clin. Invest.82, 2114–2126 (1988). ArticleCAS Google Scholar
Perou, C.M. et al. Identification of the murine beige gene by YAC complementation and positional cloning. Nat. Genet.13, 303–308 (1996). ArticleCAS Google Scholar
Baron, R., Neff, L., Louvard, D. & Courtoy, P.J. Cell-mediated extracellular acidification and bone resorption: evidence for a low pH in resorbing lacunae and localization of a 100-kD lysosomal membrane protein at the osteoclast ruffled border. J. Cell Biol.101, 2210–2222 (1985). ArticleCAS Google Scholar
Baron, R. et al. Polarized secretion of lysosomal enzymes: co-distribution of cation-independent mannose-6-phosphate receptors and lysosomal enzymes along the osteoclast exocytic pathway. J. Cell Biol.106, 1863–1872 (1988). ArticleCAS Google Scholar
Blair, H.C., Teitelbaum, S.L., Ghiselli, R. & Gluck, S. Osteoclastic bone resorption by a polarized vacuolar proton pump. Science245, 855–857 (1989). ArticleCAS Google Scholar
Palokangas, H., Mulari, M. & Vaananen, H.K. Endocytic pathway from the basal plasma membrane to the ruffled border membrane in bone-resorbing osteoclasts. J. Cell Sci.110, 1767–1780 (1997). CASPubMed Google Scholar
Vacher, J. & Tilghman, S.M. Dominant negative regulation of the mouse α-fetoprotein gene in adult liver. Science250, 1732–1735 (1990). ArticleCAS Google Scholar
Bennett, D.C., Cooper, P.J. & Hart, I.R. A line of non-tumorigenic mouse melanocytes, syngeneic with the B16 melanoma and requiring a tumour promoter for growth. Int. J. Cancer39, 414–418 (1987). ArticleCAS Google Scholar
Emerson, J.A., Vacher, J., Cirillo, L.A., Tilghman, S.M. & Tyner, A.L. The zonal expression of α-fetoprotein transgenes in the livers of adult mice. Dev. Dyn.195, 55–66 (1992). ArticleCAS Google Scholar
Marcinkiewicz, M., Savaria, D. & Marcinkiewicz, J. The pro-protein convertase PC1 is induced in the transected sciatic nerve and is present in cultured Schwann cells: comparison with PC5, furin and PC7, implication in pro-BDNF processing. Mol. Brain Res.59, 229–246 (1998). ArticleCAS Google Scholar