STIL

From Wikipedia, the free encyclopedia


SCL/TAL1 interrupting locus
Identifiers
Symbol(s) STIL; SIL; DKFZp686O09161
External IDs OMIM: 181590 MGI: 107477 HomoloGene: 2283
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 6491 20460
Ensembl ENSG00000123473 ENSMUSG00000028718
Uniprot Q15468 Q60988
Refseq NM_001048166 (mRNA)
NP_001041631 (protein)		 NM_009185 (mRNA)
NP_033211 (protein)
Location Chr 1: 47.49 - 47.55 Mb Chr 4: 114.5 - 114.54 Mb
Pubmed search [1] [2]

SCL/TAL1 interrupting locus, also known as STIL, is a human gene.[1]

This gene encodes a cytoplasmic protein implicated in regulation of the mitotic spindle checkpoint, a regulatory pathway that monitors chromosome segregation during cell division to ensure the proper distribution of chromosomes to daughter cells. The protein is phosphorylated in mitosis and in response to activation of the spindle checkpoint, and disappears when cells transition to G1 phase. It interacts with a mitotic regulator, and its expression is required to efficiently activate the spindle checkpoint. It is proposed to regulate Cdc2 kinase activity during spindle checkpoint arrest. Chromosomal deletions that fuse this gene and the adjacent locus commonly occur in T cell leukemias, and are thought to arise through illegitimate V-(D)-J recombination events. Multiple transcript variants encoding different isoforms have been found for this gene.[1]

[edit] References

  1. ^ a b Entrez Gene: STIL SCL/TAL1 interrupting locus.

[edit] Further reading

  • Aplan PD, Lombardi DP, Reaman GH, et al. (1992). "Involvement of the putative hematopoietic transcription factor SCL in T-cell acute lymphoblastic leukemia.". Blood 79 (5): 1327–33. PMID 1311214. 
  • Aplan PD, Lombardi DP, Kirsch IR (1991). "Structural characterization of SIL, a gene frequently disrupted in T-cell acute lymphoblastic leukemia.". Mol. Cell. Biol. 11 (11): 5462–9. PMID 1922059. 
  • Jonsson OG, Kitchens RL, Baer RJ, et al. (1991). "Rearrangements of the tal-1 locus as clonal markers for T cell acute lymphoblastic leukemia.". J. Clin. Invest. 87 (6): 2029–35. PMID 2040693. 
  • Brown L, Cheng JT, Chen Q, et al. (1990). "Site-specific recombination of the tal-1 gene is a common occurrence in human T cell leukemia.". EMBO J. 9 (10): 3343–51. PMID 2209547. 
  • Aplan PD, Lombardi DP, Ginsberg AM, et al. (1991). "Disruption of the human SCL locus by "illegitimate" V-(D)-J recombinase activity.". Science 250 (4986): 1426–9. PMID 2255914. 
  • Kikuchi A, Hayashi Y, Kobayashi S, et al. (1993). "Clinical significance of TAL1 gene alteration in childhood T-cell acute lymphoblastic leukemia and lymphoma.". Leukemia 7 (7): 933–8. PMID 8321044. 
  • Collazo-Garcia N, Scherer P, Aplan PD (1997). "Cloning and characterization of a murine SIL gene.". Genomics 30 (3): 506–13. doi:10.1006/geno.1995.1271. PMID 8825637. 
  • Izraeli S, Colaizzo-Anas T, Bertness VL, et al. (1997). "Expression of the SIL gene is correlated with growth induction and cellular proliferation.". Cell Growth Differ. 8 (11): 1171–9. PMID 9372240. 
  • Göttgens B, Barton LM, Gilbert JG, et al. (2000). "Analysis of vertebrate SCL loci identifies conserved enhancers.". Nat. Biotechnol. 18 (2): 181–6. doi:10.1038/72635. PMID 10657125. 
  • Raghavan SC, Kirsch IR, Lieber MR (2001). "Analysis of the V(D)J recombination efficiency at lymphoid chromosomal translocation breakpoints.". J. Biol. Chem. 276 (31): 29126–33. doi:10.1074/jbc.M103797200. PMID 11390401. 
  • Carlotti E, Pettenella F, Amaru R, et al. (2002). "Molecular characterization of a new recombination of the SIL/TAL-1 locus in a child with T-cell acute lymphoblastic leukaemia.". Br. J. Haematol. 118 (4): 1011–8. PMID 12199779. 
  • Karkera JD, Izraeli S, Roessler E, et al. (2003). "The genomic structure, chromosomal localization, and analysis of SIL as a candidate gene for holoprosencephaly.". Cytogenet. Genome Res. 97 (1-2): 62–7. PMID 12438740. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Colaizzo-Anas T, Aplan PD (2003). "Cloning and characterization of the SIL promoter.". Biochim. Biophys. Acta 1625 (2): 207–13. PMID 12531481. 
  • Curry JD, Smith MT (2003). "Measurement of SIL-TAL1 fusion gene transcripts associated with human T-cell lymphocytic leukemia by real-time reverse transcriptase-PCR.". Leuk. Res. 27 (7): 575–82. PMID 12681356. 
  • Cavé H, Suciu S, Preudhomme C, et al. (2004). "Clinical significance of HOX11L2 expression linked to t(5;14)(q35;q32), of HOX11 expression, and of SIL-TAL fusion in childhood T-cell malignancies: results of EORTC studies 58881 and 58951.". Blood 103 (2): 442–50. doi:10.1182/blood-2003-05-1495. PMID 14504110. 
  • Erez A, Perelman M, Hewitt SM, et al. (2004). "Sil overexpression in lung cancer characterizes tumors with increased mitotic activity.". Oncogene 23 (31): 5371–7. doi:10.1038/sj.onc.1207685. PMID 15107824. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334. 
  • Campaner S, Kaldis P, Izraeli S, Kirsch IR (2005). "Sil phosphorylation in a Pin1 binding domain affects the duration of the spindle checkpoint.". Mol. Cell. Biol. 25 (15): 6660–72. doi:10.1128/MCB.25.15.6660-6672.2005. PMID 16024801. 
  • Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMID 16344560. 
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