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Doctoral thesis (Dissertations and theses)
Ruolo del gene AIRE nel melanoma
Conteduca, Giuseppina
2010
 

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Keywords :
AIRE; melanoma; TAS
Abstract :
[en] Polymorphisms of AIRE, a transcription factor that up-regulates intrathymic expression of tissue-specific antigens including melanoma-associated antigens (MAAs), may variably affect the selection of MAAs-specific thymocytes, generating T-cell repertoires protecting or predisposing individuals to melanoma. We found that AIRE single nucleotide polymorphisms (SNPs) rs1055311, rs1800520 and rs1800522 were significantly more frequent in healthy subjects than in melanoma patients, independently from sex, age and stages of melanoma. The presence of these SNPs was associated with increased frequency of two T-cell clonotypes specific for MAGE-1 linking their protective effect to selection/expansion of MAA-specific T cells. Interestingly, mRNA transcribed on the rs1800520 SNP showed increased free energy than the wild type suggesting that its reduced stability may be responsible for the different activity of the polymorphic AIRE molecule. This finding may contribute at identifying subjects with increased risk of developing melanoma or patients with melanoma that may take benefit from immunotherapy.
Research center :
Centre of Excelence for Biomedical Research
Disciplines :
Genetics & genetic processes
Author, co-author :
Conteduca, Giuseppina ;  Université de Liège - ULiège > GIGA-R : Hématologie
Language :
Italian
Title :
Ruolo del gene AIRE nel melanoma
Alternative titles :
[en] Role of AIRE gene in melanoma
Defense date :
March 2010
Institution :
Università degli studi di Genova, Genova, Italy
Degree :
doctorat in Cancer Genetic and Biology of Differentation
Promotor :
Indiveri, Francesco
Name of the research project :
AIRE nel melanoma
Available on ORBi :
since 27 March 2015

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