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| Status |
Public on Aug 01, 2013 |
| Title |
Germline Aberrations of PAX5 Cause Susceptibility to pre-B cell Acute Lymphoblastic Leukemia |
| Organism |
Mus musculus |
| Experiment type |
Expression profiling by array
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| Summary |
A novel heterozygous germline variant, c.547G>A (p.Gly183Ser), in the paired box protein encoding gene, PAX5, was found to segregate with disease in two unrelated kindreds with autosomal dominant pre-B cell acute lymphoblastic leukemia (ALL). Leukemic cells from both families exhibited 9p deletion, with loss-of-heterozygosity and retention of the mutant PAX5 allele at 9p13. Two additional sporadic ALL cases with 9p loss demonstrated PAX5 Gly183 substitution in the leukemic cells. Functional and gene expression analysis of the PAX5 germline variants demonstrated reduced transcriptional activity. These data extend the role of PAX5 alterations in the pathogenesis of pre-B ALL, and implicate PAX5 in a novel syndrome of germline susceptibility to pre-B cell neoplasia.
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| Overall design |
We analyzed 40 samples comprising sevenfold replicates of transductions with empty vector, wild type PAX5 and 4 mutant PAX5 constructs
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| Contributor(s) |
Shah S, Schrader KA, Waanders E, Timms AE, Vijai J, Miething C, Wechsler J, Yang J, Hayes J, Klein RJ, Zhang J, Wu G, Rusch M, Nagahawatte P, Ma J, Chen S, Song G, Wei L, Meyers P, Bhojwani D, Jhanwar S, Maslak P, Fleisher M, Littman J, Offit L, Rau-Murthy R, Harlan-Fleischut M, Gao X, Manschreck C, Kitzing T, Murty VV, Raimondi S, Kuiper RP, Simons A, Schiffman JD, Plon SE, Onel K, Wheeler D, Ritter D, Ziegler DS, Tucker K, Sutton R, Chenevix-Trench G, Li J, Huntsman DG, Hansford S, Senz J, Walsh T, Lee M, Hahn CN, King M, Lipkin SM, Lo SM, Levine RL, Viale A, Socci ND, Nathanson KL, Daly M, Scott HS, Sandlund JT, Lowe SW, Downing J, Altshuler D, Horwitz MS, Mullighan CG, Offit K |
| Citation(s) |
24013638 |
| Submission date |
Mar 18, 2013 |
| Last update date |
Aug 06, 2018 |
| Contact name |
Guangchun Song |
| Phone |
901-595-5722
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| Organization name |
St Jude Children's Research Hospital
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| Department |
Pathology
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| Lab |
Klco
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| Street address |
262 Danny Thomas Place
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| City |
Memphis |
| State/province |
TN |
| ZIP/Postal code |
38105 |
| Country |
USA |
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| Platforms (1) |
| GPL11180 |
[HT_MG-430_PM] Affymetrix HT MG-430 PM Array Plate |
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| Samples (40)
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| Relations |
| BioProject |
PRJNA193336 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE45260_RAW.tar |
84.5 Mb |
(http)(custom) |
TAR (of CEL) |
| Processed data included within Sample table |
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