| Entity | SIL-TAL1(SCL) fusion. |
| Note | A submicroscopic deletions fuses the promoter of SIL to TAL1 to induce an abnormal expression of TAL1. |
| Disease | T-cell ALL. This TAL1-SIL fusion transcript is found in approximately 25% of T-ALL patients. |
| Cytogenetics | Normal karyotype. |
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| Schematic representation of SIL/SCL fusion mRNA. The germ line SIL (solid boxes) and SCL (open boxes) genomic structures are shown. The deletion breakpoints are indicated with arrows. The SIL/SCL genomic rearrangement is indicated below. The SIL/SCL fusion mRNA is formed by SIL exon 1 (solid box) splicing to SCL exon 3 (open box) in a head-to-tail fashion. |
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| Hybrid/Mutated Gene | the promoter region of the SCL gene, a hematopoietic transcription factor, and the coding region of the SIL gene are deleted. The molecular result of this SIL/SCL rearrangement is an interstitial deletion on chromosome 1 that juxtaposes the 5' portion of the SIL gene to the coding region of the SCL gene. A SIL/SCL fusion mRNA is produced, with SIL exon 1 splicing to SCL exon 3 in a head-to-tail fashion. Because these are both 5' untranslated region (UTR) exons, the net result is that SIL promoter and enhancer elements drive the expression of a full length SCL gene product. |
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| Entity | SIL overexpression in lung cancer. |
| Note | SIL is also overexpressed in various solid tumors (melanoma, lymphoma, ovary cancer, breast cancer colon cancer lung and prostate cancer) and leukemic cell lines (Dami-acute megakaryocytic, and K562- erythroid blast crisis of chronic myeloid leukemia). |
| Disease | High expression in non- small cell lung cancer (NSCLC). In addition, high expression levels in lung adenocarcinoma, lung squamous carcinoma and lung small cell carcinoma. |
| Prognosis | SIL expression is associated with cell proliferation. In lung cancer, SIL overexpression is correlated with high mitotic activity. |
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| Disruption of the human SCL locus by illegitimate V-(D)-J recombinase activity. |
| Aplan PD, Lombardi DP, Ginsberg AM, Cossman J, Bertness VL, Kirsch IR |
| Science (New York, N.Y.). 1990 ; 250 (4986) : 1426-1429. |
| PMID 2255914 |
| |
| Structural characterization of SIL, a gene frequently disrupted in T-cell acute lymphoblastic leukemia. |
| Aplan PD, Lombardi DP, Kirsch IR |
| Molecular and cellular biology. 1991 ; 11 (11) : 5462-5469. |
| PMID 1922059 |
| |
| Involvement of the putative hematopoietic transcription factor SCL in T-cell acute lymphoblastic leukemia. |
| Aplan PD, Lombardi DP, Reaman GH, Sather HN, Hammond GD, Kirsch IR |
| Blood. 1992 ; 79 (5) : 1327-1333. |
| PMID 1311214 |
| |
| Expression of the SIL gene is correlated with growth induction and cellular proliferation. |
| Izraeli S, Colaizzo-Anas T, Bertness VL, Mani K, Aplan PD, Kirsch IR |
| Cell growth & differentiation : the molecular biology journal of the American Association for Cancer Research. 1997 ; 8 (11) : 1171-1179. |
| PMID 9372240 |
| |
| The SIL gene is required for mouse embryonic axial development and left-right specification. |
| Izraeli S, Lowe LA, Bertness VL, Good DJ, Dorward DW, Kirsch IR, Kuehn MR |
| Nature. 1999 ; 399 (6737) : 691-694. |
| PMID 10385121 |
| |
| Genetic evidence that Sil is required for the Sonic Hedgehog response pathway. |
| Izraeli S, Lowe LA, Bertness VL, Campaner S, Hahn H, Kirsch IR, Kuehn MR |
| Genesis (New York, N.Y. : 2000). 2001 ; 31 (2) : 72-77. |
| PMID 11668681 |
| |
| Isolation and characterization of a human novel RAB (RAB39B) gene. |
| Cheng H, Ma Y, Ni X, Jiang M, Guo L, Ying K, Xie Y, Mao Y |
| Cytogenetic and genome research. 2002 ; 97 (1-2) : 72-75. |
| PMID 12438742 |
| |
| Cloning and characterization of the SIL promoter. |
| Colaizzo-Anas T, Aplan PD |
| Biochimica et biophysica acta. 2003 ; 1625 (2) : 207-213. |
| PMID 12531481 |
| |
| Sil overexpression in lung cancer characterizes tumors with increased mitotic activity. |
| Erez A, Perelman M, Hewitt SM, Cojacaru G, Goldberg I, Shahar I, Yaron P, Muler I, Campaner S, Amariglio N, Rechavi G, Kirsch IR, Krupsky M, Kaminski N, Izraeli S |
| Oncogene. 2004 ; 23 (31) : 5371-5377. |
| PMID 15107824 |
| |
| Sil phosphorylation in a Pin1 binding domain affects the duration of the spindle checkpoint. |
| Campaner S, Kaldis P, Izraeli S, Kirsch IR |
| Molecular and cellular biology. 2005 ; 25 (15) : 6660-6672. |
| PMID 16024801 |
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