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Gene Review

SSPN  -  sarcospan

Homo sapiens

Synonyms: DAGA5, K-ras oncogene-associated protein, KRAG, Kirsten-ras-associated protein, NSPN, ...
 
 
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Disease relevance of SSPN

 

High impact information on SSPN

  • Molecular analysis of Sgca-null mice demonstrated that the absence of alpha-sarcoglycan resulted in the complete loss of the sarcoglycan complex, sarcospan, and a disruption of alpha-dystroglycan association with membranes [3].
  • In particular, sarcospan was absent in a gamma-sarcoglycanopathy patient with normal levels of alpha-, beta- and delta-sarcoglycan [1].
  • Based on our findings that sarcospan is integrally associated with the sarcoglycans, we screened >50 autosomal recessive muscular dystrophy cases for mutations in sarcospan [1].
  • We show that sarcospan, a novel tetraspan-like protein, is also lost in patients with either a complete or partial loss of the sarcoglycans [1].
  • Immunohistochemical and immunoblot analyses of BSG(-)(/-)mice demonstrated that deficiency of beta-sarcoglycan also caused loss of all of the other sarcoglycans as well as of sarcospan in the sarcolemma [5].
 

Biological context of SSPN

 

Anatomical context of SSPN

 

Other interactions of SSPN

  • Sequencing of the sarcospan gene in CFEOM1 patients from 6 families revealed no mutations [6].
  • Analysis of a region of DNA, coamplified in tumors with KRAS2, resulted in the identification of the human homologue of the mouse KRAG gene [7].
 

Analytical, diagnostic and therapeutic context of SSPN

  • A human KRAG cDNA sequence, with a structure similar to that encoded by the amplified gene in mouse Y1 adrenal carcinoma cells, was isolated by RT-PCR [7].
  • Using this antibody we investigated the localization of sarcospan and its spacial relation to the components of sarcoglycan subcomplex in normal human skeletal myofibers by immunofluorescent microscopy and immunogold electron microscopy [13].

References

  1. Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions. Crosbie, R.H., Lim, L.E., Moore, S.A., Hirano, M., Hays, A.P., Maybaum, S.W., Collin, H., Dovico, S.A., Stolle, C.A., Fardeau, M., Tomé, F.M., Campbell, K.P. Hum. Mol. Genet. (2000) [Pubmed]
  2. Sarcospan, the 25-kDa transmembrane component of the dystrophin-glycoprotein complex. Crosbie, R.H., Heighway, J., Venzke, D.P., Lee, J.C., Campbell, K.P. J. Biol. Chem. (1997) [Pubmed]
  3. Progressive muscular dystrophy in alpha-sarcoglycan-deficient mice. Duclos, F., Straub, V., Moore, S.A., Venzke, D.P., Hrstka, R.F., Crosbie, R.H., Durbeej, M., Lebakken, C.S., Ettinger, A.J., van der Meulen, J., Holt, K.H., Lim, L.E., Sanes, J.R., Davidson, B.L., Faulkner, J.A., Williamson, R., Campbell, K.P. J. Cell Biol. (1998) [Pubmed]
  4. Disrupted mechanical stability of the dystrophin-glycoprotein complex causes severe muscular dystrophy in sarcospan transgenic mice. Peter, A.K., Miller, G., Crosbie, R.H. J. Cell. Sci. (2007) [Pubmed]
  5. Loss of the sarcoglycan complex and sarcospan leads to muscular dystrophy in beta-sarcoglycan-deficient mice. Araishi, K., Sasaoka, T., Imamura, M., Noguchi, S., Hama, H., Wakabayashi, E., Yoshida, M., Hori, T., Ozawa, E. Hum. Mol. Genet. (1999) [Pubmed]
  6. Analysis of human sarcospan as a candidate gene for CFEOM1. O'Brien, K.F., Engle, E.C., Kunkel, L.M. BMC Genet. (2001) [Pubmed]
  7. Coamplification in tumors of KRAS2, type 2 inositol 1,4,5 triphosphate receptor gene, and a novel human gene, KRAG. Heighway, J., Betticher, D.C., Hoban, P.R., Altermatt, H.J., Cowen, R. Genomics (1996) [Pubmed]
  8. Characterization of a gene coamplified with Ki-ras in Y1 murine adrenal carcinoma cells that codes for a putative membrane protein. Scott, A.F., Elizaga, A., Morrell, J., Bergen, A., Penno, M.B. Genomics (1994) [Pubmed]
  9. Expression analysis of the SG-SSPN complex in smooth muscle and endothelial cells of human umbilical cord vessels. Ramírez-Sánchez, I., Rosas-Vargas, H., Ceballos-Reyes, G., Salamanca, F., Coral-Vázquez, R.M. J. Vasc. Res. (2005) [Pubmed]
  10. Dystrophin-associated proteins in obliquely striated muscle of the leech Pontobdella muricata (Annelida, Hirudinea). Royuela, M., Hugon, G., Rivier, F., Paniagua, R., Mornet, D. Histochem. J. (2001) [Pubmed]
  11. Pattern of expression of tetraspanin antigen genes in Burkitt lymphoma cell lines. Ferrer, M., Yunta, M., Lazo, P.A. Clin. Exp. Immunol. (1998) [Pubmed]
  12. Dystrophin and dystrophin-associated protein in muscles and nerves from monkey. Royuela, M., Chazalette, D., Rivier, F., Hugon, G., Paniagua, R., Guerlavais, V., Fehrentz, J.A., Martinez, J., Mornet, D. European journal of histochemistry : EJH. (2003) [Pubmed]
  13. Sarcospan: ultrastructural localization and its relation to the sarcoglycan subcomplex. Hayashi, K., Wakayama, Y., Inoue, M., Kojima, H., Shibuya, S., Jimi, T., Hara, H., Oniki, H. Micron (2006) [Pubmed]
 
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