REGAIP

AIP gene regulation and its implications in pituitary tumorigenesis

Coordinatore	QUEEN MARY UNIVERSITY OF LONDON    more  Organization address address: 327 MILE END ROAD city: LONDON postcode: E1 4NS contact info Titolo: Ms. Nome: Tanya Cognome: Szendeffy Email: send email Telefono: +44 20 7882 7260 Fax: +44 20 7882 7276
Nazionalità Coordinatore	United Kingdom [UK]
Totale costo	209˙033 €
EC contributo	209˙033 €
Programma	FP7-PEOPLE Specific programme "People" implementing the Seventh Framework Programme of the European Community for research, technological development and demonstration activities (2007 to 2013)
Code Call	FP7-PEOPLE-2011-IEF
Funding Scheme	MC-IEF
Anno di inizio	2013
Periodo (anno-mese-giorno)	2013-05-01   -   2015-04-30

 Partecipanti

#	participant	country	role	EC contrib. [€]
1	QUEEN MARY UNIVERSITY OF LONDON  Organization address address: 327 MILE END ROAD city: LONDON postcode: E1 4NS contact info Titolo: Ms. Nome: Tanya Cognome: Szendeffy Email: send email Telefono: +44 20 7882 7260 Fax: +44 20 7882 7276	UK (LONDON)	coordinator	209˙033.40

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 Obiettivo del progetto (Objective)

'Background: Pituitary adenomas are a public health problem, due to their prevalence, morbidity and medical costs. AIP is a tumor suppressor gene that was recently linked to pituitary tumors in up to 30% of the familial isolated pituitary adenoma syndrome (FIPA) families, an autosomal dominant disease with incomplete penetrance. AIP mutation-positive patients are younger (children/young adults), have more aggressive disease, and respond less well to treatment than non-mutated patients. The mechanisms by which inactivating AIP mutations promote tumorigenesis remain unknown. Abnormal, mislocalised AIP expression in sporadic pituitary adenomas suggest a possible role in sporadic pituitary adenoma development as well. Very little is known about the normal and pathological regulation of AIP expression. Objective: To uncover major AIP transcription regulation by its canonical promoter, miRNA species and epistatic action of distant regulatory SNPs (eQTLs). Methods: 1) In vitro functional promoter dissection and identification of operating transcription factors and investigation of promoter mutations in FIPA families. 2) Screening and validation of miRNA species acting on AIP and study of their expression in pituitary adenomas and correlation with clinical / pathological features. 3) Detection and validation of AIP eQTLs and study of their implication in AIP mutation penetrance and their association with sporadic pituitary adenomas and their clinical/pathological features. Work programme relevance: Training through research in a major European pituitary centre will ensure development of essential experimental, theoretical and organizational skills of the fellow and will advance research at the host institution, thus improving quality of research at the ERA. The research results will have a significant impact not only on pituitary research, but also endocrinology (including pediatrics) and cancer research.'