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Gene Review

Bmp5  -  bone morphogenetic protein 5

Mus musculus

Synonyms: AU023399, BMP-5, Bmp-5, Bone morphogenetic protein 5, se
 
 
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Disease relevance of Bmp5

  • Several unique sequence cellular DNA probes flanking this provirus have now been identified and used to investigate the organization of wild-type chromosomes and chromosomes with radiation-induced d-se region mutations [1].
  • Three skeletal mutants segregate; of these fidget, fi, causes a type of hydronephrosis differing somewhat from that caused by se [2].
  • Over-expression of BMP4 and BMP5 in a child with axial skeletal malformations and heterotopic ossification: A new syndrome [3].
 

High impact information on Bmp5

 

Biological context of Bmp5

  • An extensive 3' regulatory region controls expression of Bmp5 in specific anatomical structures of the mouse embryo [8].
  • Spectrum of Bmp5 mutations from germline mutagenesis experiments in mice [9].
  • Sequence changes in the Bmp5 open reading frame confirm the importance of cysteine residues in the function of TGF beta superfamily members [9].
  • Surprisingly, some of the regulatory sequences in the Bmp5 gene map over 270 kb from the Bmp5 promoter, making them among the most distant elements yet identified in studies of eukaryotic gene expression [8].
  • The occurrence of homozygous-viable dilute-short ear (Myo5a-Bmp5) double mutants in mouse specific locus mutation experiments has generally been assumed to be the result of double non-disjunction such that the mutant inherits two copies of chromosome 9 carrying the recessive alleles from the test-stock [10].
 

Anatomical context of Bmp5

 

Associations of Bmp5 with chemical compounds

  • The significance of estradiol per se is emphasized by the reduction and retardation of neuritic outgrowth in those same regions following exposure to steroid-deficient medium or blockade of the nuclear receptor (CI-628) and by the failure of testosterone alone to induce a significant response [15].
 

Other interactions of Bmp5

  • Bmp2/7 and Bmp5/7 double heterozygous animals do not present with any abnormalities [16].
  • To investigate the effect on skeleton development of the combined absence of some Bmp genes expressed in the same areas, we have intercrossed heterozygous Bmp7 mice with Bmp2 +/-, Bmp4 +/-, or Bmp5 +/- animals [16].
  • The loss of BMP7 activity per se is profibrogenic in tubular cells [17].
  • A homozygous viable Myo5a-Bmp5 double mutant was recovered recently in our laboratory [10].

References

  1. Molecular genetic analysis of the dilute-short ear (d-se) region of the mouse. Rinchik, E.M., Russell, L.B., Copeland, N.G., Jenkins, N.A. Genetics (1986) [Pubmed]
  2. Hydronephrosis in the mouse: the effects of the short-ear gene, sex and ureteral vascular system. Wallace, M.E. Am. J. Anat. (1976) [Pubmed]
  3. Over-expression of BMP4 and BMP5 in a child with axial skeletal malformations and heterotopic ossification: A new syndrome. Feldman, G.J., Billings, P.C., Patel, R.V., Caron, R.J., Guenther, C., Kingsley, D.M., Kaplan, F.S., Shore, E.M. Am. J. Med. Genet. A (2007) [Pubmed]
  4. The mouse short ear skeletal morphogenesis locus is associated with defects in a bone morphogenetic member of the TGF beta superfamily. Kingsley, D.M., Bland, A.E., Grubber, J.M., Marker, P.C., Russell, L.B., Copeland, N.G., Jenkins, N.A. Cell (1992) [Pubmed]
  5. Efficient studies of long-distance Bmp5 gene regulation using bacterial artificial chromosomes. DiLeone, R.J., Marcus, G.A., Johnson, M.D., Kingsley, D.M. Proc. Natl. Acad. Sci. U.S.A. (2000) [Pubmed]
  6. Genetic and molecular analysis of chlorambucil-induced germ-line mutations in the mouse. Rinchik, E.M., Bangham, J.W., Hunsicker, P.R., Cacheiro, N.L., Kwon, B.S., Jackson, I.J., Russell, L.B. Proc. Natl. Acad. Sci. U.S.A. (1990) [Pubmed]
  7. Joint patterning defects caused by single and double mutations in members of the bone morphogenetic protein (BMP) family. Storm, E.E., Kingsley, D.M. Development (1996) [Pubmed]
  8. An extensive 3' regulatory region controls expression of Bmp5 in specific anatomical structures of the mouse embryo. DiLeone, R.J., Russell, L.B., Kingsley, D.M. Genetics (1998) [Pubmed]
  9. Spectrum of Bmp5 mutations from germline mutagenesis experiments in mice. Marker, P.C., Seung, K., Bland, A.E., Russell, L.B., Kingsley, D.M. Genetics (1997) [Pubmed]
  10. Loss of heterozygosity at the dilute-short ear (Myo5a-Bmp5) region of the mouse: mitotic recombination or double non-disjunction? Favor, J., Neuhäuser-Klaus, A. Genet. Res. (1998) [Pubmed]
  11. Nodal and bone morphogenetic protein 5 interact in murine mesoderm formation and implantation. Pfendler, K.C., Yoon, J., Taborn, G.U., Kuehn, M.R., Iannaccone, P.M. Genesis (2000) [Pubmed]
  12. BMP-5 deficiency alters chondrocytic activity in the mouse proximal tibial growth plate. Bailón-Plaza, A., Lee, A.O., Veson, E.C., Farnum, C.E., van der Meulen, M.C. Bone (1999) [Pubmed]
  13. Expression patterns of bone morphogenetic proteins (Bmps) in the developing mouse tooth suggest roles in morphogenesis and cell differentiation. Aberg, T., Wozney, J., Thesleff, I. Dev. Dyn. (1997) [Pubmed]
  14. Sonic hedgehog and bone morphogenetic protein regulate interneuron development from dorsal telencephalic progenitors in vitro. Gulacsi, A., Lillien, L. J. Neurosci. (2003) [Pubmed]
  15. Sex steroids and the development of the newborn mouse hypothalamus and preoptic area in vitro. II. Morphological correlates and hormonal specificity. Toran-Allerand, C.D. Brain Res. (1980) [Pubmed]
  16. Skeletal abnormalities in doubly heterozygous Bmp4 and Bmp7 mice. Katagiri, T., Boorla, S., Frendo, J.L., Hogan, B.L., Karsenty, G. Dev. Genet. (1998) [Pubmed]
  17. Loss of tubular bone morphogenetic protein-7 in diabetic nephropathy. Wang, S.N., Lapage, J., Hirschberg, R. J. Am. Soc. Nephrol. (2001) [Pubmed]
 
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