The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

Links

 

Gene Review

ASPSCR1  -  alveolar soft part sarcoma chromosome...

Homo sapiens

Synonyms: ASPCR1, ASPL, ASPS, Alveolar soft part sarcoma chromosomal region candidate gene 1 protein, Alveolar soft part sarcoma locus, ...
 
 
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.
 

Disease relevance of ASPSCR1

 

High impact information on ASPSCR1

  • 209 female and 207 male genomic DNA samples were analyzed for p55/G6PD genotype by ASPCR; 60% of females were heterozygous at one or both loci [6].
  • The reciprocal fusion transcript TFE3/RCC17 is also expressed [1].
  • In both cases, the t(X;17) fuses the NH(2)-terminal region of RCC17 to the COOH-terminal part of TFE3 including the basic helix-loop-helix DNA-binding domain and the leucine zipper dimerization domain [1].
  • The assay employs allele-specific PCR (ASPCR) for the C282Y (845g->a), H63D (187c->g), and S65C (193a->t) variants using fluorescently-labeled energy-transfer (ET) allele-specific primers [7].
  • A relationship between these renal tumors and ASPS was initially suggested by the cytogenetic finding of a balanced t(X;17)(p11.2;q25) in two of the cases, and the ASPL-TFE3 fusion transcripts were then confirmed by reverse transcriptase-polymerase chain reaction [2].
 

Biological context of ASPSCR1

  • In two young girls, we demonstrate that this translocation results in the fusion of a novel gene, designated RCC17, at chromosome 17q25, to the transcription factor TFE3 located on the Xp11 chromosomal region [1].
  • The ASPL cDNA open reading frame encodes a predicted protein of 476 amino acids that contains within its carboxy-terminal portion of a UBX-like domain that shows significant similarity to predicted proteins of unknown function in several model organisms [8].
  • When bound, 1 was found to displace H2O301 in the active site while hydrogen bonding to the catalytic Asps and Ile50 and Ile150 [9].
  • The early pathogenicity stage involves production of oxalic acid and the expression of cell wall degrading enzymes, such as specific isoforms of polygalacturonase (SSPG1) and protease (ASPS), at the expanding edge of the lesion [10].
  • In PCR-RFLP analysis, although the nested primers were not specific for the HLA-A gene, clear RFLP banding patterns were obtained because specificity was guaranteed by the use of the outer primers, ASPS and ASP3 in the first PCR [11].
 

Anatomical context of ASPSCR1

  • This well-examined cell line may become a useful system for studying the genetic and biologic characteristics of rare neoplasms with the reciprocal ASPL-TFE3 fusion transcript [12].
  • ATOS showed a higher cytotoxic titer against peripheral B-cells and inhibited EAC-rosetting stronger than ASPS did [13].
  • It is clear that immunohistochemical evidence of striated muscle differentiation is detectable in some but not all cases of ASPS [14].
  • Anti-human B lymphocyte serum (AHBS) was obtained by absorbing rabbit anti-human tonsil serum (ATOS) or rabbit anti-human spleen serum (ASPS) with human red cells, liver, neutrophils, thymocytes and glutaraldehyde insolubilized human serum [13].
  • On the other hand, macrophages in peripheral blood, Kupffer cells in the liver and certain cells of the thymus-medulla were stained with ASPA, but not with ATOS, even after intensively absorbing ASPS with thymocytes [13].
 

Associations of ASPSCR1 with chemical compounds

  • Described here is a two-reaction multiplex allele-specific PCR (ASPCR) genotyping assay for the A1, A2, B, O1 and O2 subtypes [15].
  • Infrared spectra showed that in the Ca2+ complex of model comprising the binding Asp residues of LA, the cation is coordinated to the COO- groups of all three Asps, while in the complex of model comprising nonbinding Asp residues of LA, the two neighboring Asp side chains form a bridged Ca2+-binding system [16].
 

Other interactions of ASPSCR1

  • The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25 [8].
  • The status of the TP53 alleles was followed at different stages by fluorescence in situ hybridization (FISH) and allele-specific PCR (ASPCR) on total DNA, as well as flow-sorted chromosomes--taking advantage of a size difference between the two homologues of chromosome 17 that harbor TP53 on 17p [17].
 

Analytical, diagnostic and therapeutic context of ASPSCR1

  • The salient feature of ASPCR is the performance of two PCR rounds [6].
  • The differential diagnosis includes conventional-type papillary renal cell carcinoma, conventional-type (clear cell) renal carcinoma, and the ASPL-TFE3 renal carcinomas associated with the t(X;17)(p11.2;q25), with the latter two being morphologically the most similar to the t(X;1) renal carcinomas [18].
  • In fact, ASPS guidelines urge that anesthesia services be engaged for dedicated patient care whenever "major" liposuction or conscious sedation is projected, because liposuction is neither as benign nor as simple a procedure as heretofore reputed [19].
  • This study tested whether a newly designed enhanced evening light therapy was well tolerated and effective in relieving symptoms of Advanced, Sleep Phase Syndrome (ASPS) [20].
  • The human gene structure prediction program FGENEH, exon prediction-FEXH and splice site prediction-HSPL have been modified for sequence analysis of Drosophila (FGENED, FEXD and DSPL), C.elegance (FGENEN, FEXN and NSPL), Yeast (FEXY and YSPL) and Plant (FGENEA, FEXA and ASPL) genomic sequences [21].

References

  1. Fusion of a novel gene, RCC17, to the TFE3 gene in t(X;17)(p11.2;q25.3)-bearing papillary renal cell carcinomas. Heimann, P., El Housni, H., Ogur, G., Weterman, M.A., Petty, E.M., Vassart, G. Cancer Res. (2001) [Pubmed]
  2. Primary renal neoplasms with the ASPL-TFE3 gene fusion of alveolar soft part sarcoma: a distinctive tumor entity previously included among renal cell carcinomas of children and adolescents. Argani, P., Antonescu, C.R., Illei, P.B., Lui, M.Y., Timmons, C.F., Newbury, R., Reuter, V.E., Garvin, A.J., Perez-Atayde, A.R., Fletcher, J.A., Beckwith, J.B., Bridge, J.A., Ladanyi, M. Am. J. Pathol. (2001) [Pubmed]
  3. Sleep and activity rhythms are related to circadian phase in the blind. Lockley, S.W., Skene, D.J., Butler, L.J., Arendt, J. Sleep. (1999) [Pubmed]
  4. Automated constant denaturant capillary electrophoresis applied for detection of KRAS exon 1 mutations. Bjørheim, J., Ekstrøm, P.O., Fossberg, E., Børresen-Dale, A.L., Gaudernack, G. BioTechniques (2001) [Pubmed]
  5. Splenic and pulmonary metastases from renal cell carcinoma: report of a case. Tatsuta, M., Shiozaki, K., Masutani, S., Hashimoto, K., Imamura, H., Ikeda, M., Miya, A., Ishida, H., Kawasaki, T., Furukawa, H., Satomi, T., Hoshida, Y. Surgery today. (2001) [Pubmed]
  6. Rapid determination of clonality by detection of two closely-linked X chromosome exonic polymorphisms using allele-specific PCR. Liu, Y., Phelan, J., Go, R.C., Prchal, J.F., Prchal, J.T. J. Clin. Invest. (1997) [Pubmed]
  7. High-performance multiplex SNP analysis of three hemochromatosis-related mutations with capillary array electrophoresis microplates. Medintz, I., Wong, W.W., Berti, L., Shiow, L., Tom, J., Scherer, J., Sensabaugh, G., Mathies, R.A. Genome Res. (2001) [Pubmed]
  8. The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25. Ladanyi, M., Lui, M.Y., Antonescu, C.R., Krause-Boehm, A., Meindl, A., Argani, P., Healey, J.H., Ueda, T., Yoshikawa, H., Meloni-Ehrig, A., Sorensen, P.H., Mertens, F., Mandahl, N., van den Berghe, H., Sciot, R., Cin, P.D., Bridge, J. Oncogene (2001) [Pubmed]
  9. Discovery and optimization of nonpeptide HIV-1 protease inhibitors. Tummino, P.J., Prasad, J.V., Ferguson, D., Nouhan, C., Graham, N., Domagala, J.M., Ellsworth, E., Gajda, C., Hagen, S.E., Lunney, E.A., Para, K.S., Tait, B.D., Pavlovsky, A., Erickson, J.W., Gracheck, S., McQuade, T.J., Hupe, D.J. Bioorg. Med. Chem. (1996) [Pubmed]
  10. Sclerotinia sclerotiorum: when "to be or not to be" a pathogen? Hegedus, D.D., Rimmer, S.R. FEMS Microbiol. Lett. (2005) [Pubmed]
  11. A nested PCR-RFLP method for high-resolution typing of HLA-A alleles. Mitsunaga, S., Tokunaga, K., Kashiwase, K., Akaza, T., Tadokoro, K., Juji, T. Eur. J. Immunogenet. (1998) [Pubmed]
  12. Establishment and characterization of a renal cell carcinoma cell line (FU-UR-1) with the reciprocal ASPL-TFE3 fusion transcript. Ishiguro, M., Iwasaki, H., Ohjimi, Y., Kaneko, Y. Oncol. Rep. (2004) [Pubmed]
  13. Quantitative studies o the activities of anti-human tonsil sera and anti-human spleen sera against B lymphocyte. Nishihira, T., Kunori, T., Tan, M., Tsutsumi, E., Kasai, M. Tohoku J. Exp. Med. (1977) [Pubmed]
  14. Immunophenotype and ultrastructure of alveolar soft part sarcoma. Menesce, L.P., Eyden, B.P., Edmondson, D., Harris, M. J. Submicrosc. Cytol. Pathol. (1993) [Pubmed]
  15. A(1,2)BO(1,2) genotyping by multiplexed allele-specific PCR. Pearson, S.L., Hessner, M.J. Br. J. Haematol. (1998) [Pubmed]
  16. Cyclic peptide models of the Ca2+-binding loop of alpha-lactalbumin. Farkas, V., Vass, E., Hanssens, I., Majer, Z., Hollósi, M. Bioorg. Med. Chem. (2005) [Pubmed]
  17. Complete loss of wild-type TP53 in a nontransformed human epithelial cell line is preceded by a phase during which a heterozygous TP53 mutant effectively outgrows the homozygous wild-type cells. Villadsen, R., Nielsen, K.V., Bolund, L., Briand, P. Cancer Genet. Cytogenet. (2000) [Pubmed]
  18. PRCC-TFE3 renal carcinomas: morphologic, immunohistochemical, ultrastructural, and molecular analysis of an entity associated with the t(X;1)(p11.2;q21). Argani, P., Antonescu, C.R., Couturier, J., Fournet, J.C., Sciot, R., Debiec-Rychter, M., Hutchinson, B., Reuter, V.E., Boccon-Gibod, L., Timmons, C., Hafez, N., Ladanyi, M. Am. J. Surg. Pathol. (2002) [Pubmed]
  19. Perioperative management of cosmetic liposuction. de Jong, R.H., Grazer, F.M. Plast. Reconstr. Surg. (2001) [Pubmed]
  20. Efficacy of enhanced evening light for advanced sleep phase syndrome. Palmer, C.R., Kripke, D.F., Savage, H.C., Cindrich, L.A., Loving, R.T., Elliott, J.A. Behavioral sleep medicine. (2003) [Pubmed]
  21. The Gene-Finder computer tools for analysis of human and model organisms genome sequences. Solovyev, V., Salamov, A. Proceedings / ... International Conference on Intelligent Systems for Molecular Biology ; ISMB. International Conference on Intelligent Systems for Molecular Biology. (1997) [Pubmed]
 
WikiGenes - Universities