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SMARCAL1  -  SWI/SNF related, matrix associated, actin...

Homo sapiens

Synonyms: HARP, HHARP, HepA-related protein, SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1, Sucrose nonfermenting protein 2-like 1, ...
 
 
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Disease relevance of SMARCAL1

 

High impact information on SMARCAL1

  • Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia [3].
  • These observations indicate that some missense mutations allow retention of partial SMARCAL1 function and thus cause milder disease [3].
  • HARP/SMARCAL1 transcripts are ubiquitously expressed in human and mouse tissues, with testis presenting the highest levels of mRNA expression in humans [4].
  • However, among 72 patients from different families, we identified only 38 patients with biallelic mutations in the coding exons and splice junctions of the SMARCAL1 gene [5].
  • Among patients without detectable SMARCAL1 coding mutations, our analyses of cell lines from four of these patients showed that they expressed normal levels of SMARCAL1 mRNA and protein [5].
 

Biological context of SMARCAL1

  • Also, contrary to monoallelic SMARCAL1 coding mutations indicating oligogenic inheritance, we found that all these patients did not express RNA and/or protein from the other allele and thus have biallelic SMARCAL1 mutations [5].
 

Anatomical context of SMARCAL1

 

Associations of SMARCAL1 with chemical compounds

  • Biallelic mutations in switch/sucrose nonfermenting (swi/snf) related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) are the only identified cause of SIOD [5].
 

Analytical, diagnostic and therapeutic context of SMARCAL1

  • Using genome-wide linkage mapping and a positional candidate approach, we determined that mutations in SMARCAL1 (SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1), are responsible for SIOD [3].

References

  1. R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia. Bökenkamp, A., deJong, M., van Wijk, J.A., Block, D., van Hagen, J.M., Ludwig, M. Pediatr. Nephrol. (2005) [Pubmed]
  2. Fatal lymphoproliferative disorder in a child with Schimke immuno-osseous dysplasia. Taha, D., Boerkoel, C.F., Balfe, J.W., Khalifah, M., Sloan, E.A., Barbar, M., Haider, A., Kanaan, H. Am. J. Med. Genet. A (2004) [Pubmed]
  3. Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Boerkoel, C.F., Takashima, H., John, J., Yan, J., Stankiewicz, P., Rosenbarker, L., André, J.L., Bogdanovic, R., Burguet, A., Cockfield, S., Cordeiro, I., Fründ, S., Illies, F., Joseph, M., Kaitila, I., Lama, G., Loirat, C., McLeod, D.R., Milford, D.V., Petty, E.M., Rodrigo, F., Saraiva, J.M., Schmidt, B., Smith, G.C., Spranger, J., Stein, A., Thiele, H., Tizard, J., Weksberg, R., Lupski, J.R., Stockton, D.W. Nat. Genet. (2002) [Pubmed]
  4. Cloning and characterization of HARP/SMARCAL1: a prokaryotic HepA-related SNF2 helicase protein from human and mouse. Coleman, M.A., Eisen, J.A., Mohrenweiser, H.W. Genomics (2000) [Pubmed]
  5. Schimke immunoosseous dysplasia: suggestions of genetic diversity. Clewing, J.M., Fryssira, H., Goodman, D., Smithson, S.F., Sloan, E.A., Lou, S., Huang, Y., Choi, K., Lücke, T., Alpay, H., André, J.L., Asakura, Y., Biebuyck-Gouge, N., Bogdanovic, R., Bonneau, D., Cancrini, C., Cochat, P., Cockfield, S., Collard, L., Cordeiro, I., Cormier-Daire, V., Cransberg, K., Cutka, K., Deschenes, G., Ehrich, J.H., Fründ, S., Georgaki, H., Guillen-Navarro, E., Hinkelmann, B., Kanariou, M., Kasap, B., Kilic, S.S., Lama, G., Lamfers, P., Loirat, C., Majore, S., Milford, D., Morin, D., Ozdemir, N., Pontz, B.F., Proesmans, W., Psoni, S., Reichenbach, H., Reif, S., Rusu, C., Saraiva, J.M., Sakallioglu, O., Schmidt, B., Shoemaker, L., Sigaudy, S., Smith, G., Sotsiou, F., Stajic, N., Stein, A., Stray-Pedersen, A., Taha, D., Taque, S., Tizard, J., Tsimaratos, M., Wong, N.A., Boerkoel, C.F. Hum. Mutat. (2007) [Pubmed]
  6. Schimke immuno-osseous dysplasia: a cell autonomous disorder? Elizondo, L.I., Huang, C., Northrop, J.L., Deguchi, K., Clewing, J.M., Armstrong, D.L., Boerkoel, C.F. Am. J. Med. Genet. A (2006) [Pubmed]
 
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