Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma

ABSTRACT: 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. Expression profiling by array

ORGANISM(S): Homo sapiens

SUBMITTER: Glen Boyle 

PROVIDER: E-GEOD-31269 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma.

Yokoyama Satoru S   Woods Susan L SL   Boyle Glen M GM   Aoude Lauren G LG   MacGregor Stuart S   Zismann Victoria V   Gartside Michael M   Cust Anne E AE   Haq Rizwan R   Harland Mark M   Taylor John C JC   Duffy David L DL   Holohan Kelly K   Dutton-Regester Ken K   Palmer Jane M JM   Bonazzi Vanessa V   Stark Mitchell S MS   Symmons Judith J   Law Matthew H MH   Schmidt Christopher C   Lanagan Cathy C   O'Connor Linda L   Holland Elizabeth A EA   Schmid Helen H   Maskiell Judith A JA   Jetann Jodie J   Ferguson Megan M   Jenkins Mark A MA   Kefford Richard F RF   Giles Graham G GG   Armstrong Bruce K BK   Aitken Joanne F JF   Hopper John L JL   Whiteman David C DC   Pharoah Paul D PD   Easton Douglas F DF   Dunning Alison M AM   Newton-Bishop Julia A JA   Montgomery Grant W GW   Martin Nicholas G NG   Mann Graham J GJ   Bishop D Timothy DT   Tsao Hensin H   Trent Jeffrey M JM   Fisher David E DE   Hayward Nicholas K NK   Brown Kevin M KM  

Nature 20111113 7375

So far, two genes associated with familial melanoma have been identified, accounting for a minority of genetic risk in families. Mutations in CDKN2A account for approximately 40% of familial cases, and predisposing mutations in CDK4 have been reported in a very small number of melanoma kindreds. Here we report the whole-genome sequencing of probands from several melanoma families, which we performed in order to identify other genes associated with familial melanoma. We identify one individual ca  ...[more]

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