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| Status |
Public on Dec 01, 2011 |
| Title |
A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
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| Summary |
We identified a novel germline mutation of the microphthalmia-associated transcription factor (MITF - E318K). This mutation was found to be present in numerous melanoma families, as well as the general population, where its association with melanoma has a significant effect. We determined the effect of the E318K mutation on global MITF target gene transcription. We developed a tetracycline-inducible system for expression of wild type MITF or the E318K variant in melanoma cell lines with constitutively low or undetectable levels of endogenous MITF (HT144 and C32). We examined whole-genome expression profiles in these cells following induction of either wild-type or E318K MITF for 48 hours. Analysis suggests that the MITF E318K mutant exhibits differential transcriptional activity against some, though not all, target genes.
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| Overall design |
Expression profiling by array
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| Contributor(s) |
Yokoyama S, Woods SL, Boyle GM, Aoude LG, MacGregor S, Zismann V, Gartside M, Cust AE, Haq R, Harland M, Taylor J, Duffy DL, Holohan K, Dutton-Regester K, Palmer JM, Bonazzi V, Stark MS, Symmons J, Law MH, Schmidt C, Lanagan C, O'Connor L, Holland EA, Schmid H, Maskiell JA, Jetann J, Ferguson M, Jenkins MA, Kefford RF, Giles GG, Armstrong BK, Aitken JF, Hopper JL, Whiteman DC, Pharoah PD, Easton DF, Dunning AM, Newton-Bishop JA, Montgomery GW, Martin NG, Mann GJ, Bishop DT, Tsao H, Trent JM, Fisher DE, Hayward NK, Brown KM |
| Citation(s) |
22080950 |
| Submission date |
Aug 08, 2011 |
| Last update date |
Aug 13, 2018 |
| Contact name |
Glen M Boyle |
| E-mail(s) |
Glen.Boyle@qimr.edu.au
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| Phone |
+61 7 3362 0319
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| Organization name |
QIMR Berghofer Medical Research Insitute
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| Department |
Department of Cell and Molecular Biology, Cancer Program
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| Lab |
Cancer Drug Mechanisms Group
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| Street address |
300 Herston Road Herston
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| City |
Brisbane |
| State/province |
Queensland |
| ZIP/Postal code |
4006 |
| Country |
Australia |
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| Platforms (1) |
| GPL10558 |
Illumina HumanHT-12 V4.0 expression beadchip |
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| Samples (8)
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| Relations |
| BioProject |
PRJNA146135 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE31269_RAW.tar |
26.2 Mb |
(http)(custom) |
TAR |
| GSE31269_non_normalized.txt.gz |
1.6 Mb |
(ftp)(http) |
TXT |
| Processed data included within Sample table |
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