DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1 (original) (raw)

References

  1. Scambler, P.J. The 22q11 deletion syndromes. Hum. Mol. Genet. 9, 2421–2426 (2000).
    Article CAS PubMed Google Scholar
  2. Goldberg, R., Motzkin, B., Marion, R., Scambler, P.J. & Shprintzen, R.J. Velo-cardio-facial syndrome: a review of 120 patients. Am. J. Hum. Genet. 45, 313–319 (1993).
    Article CAS Google Scholar
  3. McLean, S.D., Saal, H.M., Spinner, N.B., Emanuel, B.S. & Driscoll, D.A. Velo-cardio-facial syndrome. Intrafamilial variability of the phenotype. Am. J. Dis. Child. 147, 1212–1216 (1993).
    Article CAS PubMed Google Scholar
  4. Goodship, J., Cross, I., Scambler, P. & Burn, J. Monozygotic twins with chromosome 22q11 deletion and discordant phenotype. J. Med. Genet. 32, 746–748 (1995).
    Article CAS PubMed PubMed Central Google Scholar
  5. McDonald-McGinn, D.M. et al. The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients. Genetic Testing 1, 99–108 (1997).
    Article CAS PubMed Google Scholar
  6. Gogos, J.A. et al. Catechol-_O_-methyltransferase-deficient mice exhibit sexually dimorphic changes in catecholamine levels and behavior. Proc. Natl. Acad. Sci. USA 95, 9991–9996 (1998).
    Article CAS PubMed PubMed Central Google Scholar
  7. Kimber, W.L. et al. Deletion of 150 kb in the minimal DiGeorge/velocardiofacial syndrome critical region in mouse. Hum. Mol. Genet. 8, 2229–2237 (1999).
    Article CAS PubMed Google Scholar
  8. Lindsay, E.A. et al. Congenital heart disease in mice deficient for the DiGeorge syndrome region. Nature 401, 379–383 (1999).
    CAS PubMed Google Scholar
  9. Puech, A. et al. Normal cardiovascular development in mice deficient for 16 genes in 550 kb of the velocardiofacial/DiGeorge syndrome region. Proc. Natl. Acad. Sci. USA 97, 10090–10095 (2000).
    Article CAS PubMed PubMed Central Google Scholar
  10. Saint-Jore, B. et al. Goosecoid-like (Gscl), a candidate gene for velocardiofacial syndrome, is not essential for normal mouse development. Hum. Mol. Genet. 7, 1841–1849 (1998).
    Article CAS PubMed Google Scholar
  11. Wakamiya, M., Lindsay, E.A., Rivera-Perez, J.A., Baldini, A. & Behringer, R.R. Functional analysis of Gscl in the pathogenesis of the DiGeorge and velocardiofacial syndromes. Hum. Mol. Genet. 7, 1835–1840 (1998).
    Article CAS PubMed Google Scholar
  12. Chieffo, C. et al. Isolation and characterization of a gene from the DiGeorge chromosomal region (DGCR) homologous to the mouse Tbx1 gene. Genomics 43, 267–277 (1997).
    Article CAS PubMed Google Scholar
  13. Bollag, R.J. et al. An ancient family of embryonically expressed mouse genes sharing a conserved protein motif with the T locus. Nature Genet. 7, 383–389 (1994).
    Article CAS PubMed Google Scholar
  14. Chapman, D.L. et al. Expression of the T-box family genes, Tbx1–Tbx5, during early mouse development. Dev. Dyn. 206, 379–390 (1996).
    Article CAS PubMed Google Scholar
  15. Epstein, J.A. et al. Migration of cardiac neural crest cells in Splotch embryos. Development 127, 1869–1878 (2000).
    CAS PubMed Google Scholar
  16. Dahl, E., Kosedi, H. & Balling, R. Pax genes and organogenesis. Bioessays 19, 755–765 (1997).
    Article CAS PubMed Google Scholar
  17. Stockton, D.W., Das, P., Goldenberg, M., D'Souza, R.M. & Patel, P.I. Mutation of PAX9 is associated with oligodontia. Nature Genet. 24, 18–19 (2000).
    Article CAS PubMed Google Scholar
  18. Peters, H., Neubuser, A., Kratochwil, K. & Balling, R. _Pax9_-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities. Genes Dev. 12, 2735–2747 (1998).
    Article CAS PubMed PubMed Central Google Scholar
  19. Satokata, I. et al. Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation. Nature Genet. 24, 391–395 (2000).
    Article CAS PubMed Google Scholar
  20. 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).
    Article CAS PubMed Google Scholar
  21. Wilming, L.G., Snoeren, C.A.S., van Rijswijk, A., Grosveld, F. & Meijers, C. The murine homologue of HIRA, a DiGeorge syndrome candidate gene, is expressed in embryonic structures affected in human CATCH22 patients. Hum. Mol. Genet. 6, 247–258 (1997).
    Article CAS PubMed Google Scholar
  22. Roberts, C., Daw, S.C.M., Halford, S. & Scambler, P.J. Cloning and developmental expression analysis of chick Hira (Chira), a candidate gene for DiGeorge syndrome. Hum. Mol. Genet. 6, 237–245 (1997).
    Article CAS PubMed Google Scholar
  23. Farrell, M.J. et al. HIRA, a DiGeorge syndrome candidate gene, is required for cardiac outflow tract septation. Circ. Res. 84, 127–135 (1999).
    Article CAS PubMed Google Scholar
  24. Wakamiya, M., Rivera-Perez, J.A., Baldini, A. & Behringer, R.R. Goosecoid and _Goosecoid_-related genes in mouse embryogenesis. Cold Spring Harb. Symp. Quant. Biol. 62, 145–149 (1997).
    Article CAS PubMed Google Scholar
  25. Yamagishi, H., Garg, V., Matsuoka, R., Thomas, T. & Srivastava, D. A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. Science 283, 1158–1161 (1999).
    Article CAS PubMed Google Scholar
  26. Nagy, A., Rossant, J., Nagy, R., Abramow-Newerly, W. & Roder, J. Derivation of completely cell culture-derived mice from early-passage embryonic stem cells. Proc. Natl. Acad. Sci. USA 90, 8424–8428 (1993).
    Article CAS PubMed PubMed Central Google Scholar
  27. Hogan, B., Beddington, R., Costantini, F. & Lacy, E. (eds.) Manipulating the Mouse Embryo. A Laboratory Manual (Cold Spring Harbor Laboratory Press, Cold Spring Harbor, 1994).
    Google Scholar
  28. Mallo, M. & Brändlin, I. Segmental identity can change independently in the hindbrain and rhombencephalic neural crest. Dev. Dyn. 210, 146–156 (1997).
    Article CAS PubMed Google Scholar
  29. Wilkinson, D.G. Whole Mount In Situ Hybridization of Vertebrate Embryos (IRL Press, Oxford, 1992).
    Google Scholar

Download references