Novel human tumour suppressor gene

C - Chemistry – Metallurgy – 12 – N

Patent

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Details

C12N 15/12 (2006.01) A61K 49/00 (2006.01) C07K 14/47 (2006.01) C07K 16/18 (2006.01) C07K 16/40 (2006.01) C12N 9/00 (2006.01) C12N 15/52 (2006.01) G01N 33/68 (2006.01)

Patent

CA 2287438

A novel human progestin-regulated gene designated EDD (<u>E</u>3 isolated by <u>D</u>ifferential <u>D</u>isplay) is disclosed which encodes a product exhibiting significant amino acid sequence identity with the HYD protein (hyperplastic discs) from Drosophila melanogaster and the 100 kDa HECT (<u>h</u>omologous to <u>E</u>6-AP <u>c</u>arboxyl <u>t</u>erminus) domain protein from rat. The EDD gene appears to represent a tumour suppressor gene and the detection of a polymorphism or alteration in the gene from a subject may be useful for the diagnosis or determination of a predisposition to hyperproliferative disease such as a cancer. An assay for assessing progestin- responsiveness in a subject is also disclosed.

L'invention décrit un nouveau gène de l'homme régulé par la progestine, et appelé EDD (<u>E</u>3 isolé par affichage différentiel). Ce gène code un produit présentant une identité séquence d'acide aminé importante avec la protéine HYD (<u>d</u>isques <u>h</u>yperplastiques) à partir du Drosophila melanogaster et la protéine du domaine 100 kDa HECT (<u>h</u>omologue de l'<u>e</u>xtrémité <u>c</u>arboxylique E6-AP) du rat. Le gène EDD semble représenter un gène de suppression de tumeurs et la détection d'un polymorphisme ou d'une altération du gène d'un sujet peut être utile pour diagnostiquer ou déterminer une prédisposition à une maladie hyperproliférative comme un cancer. L'invention traite aussi d'une méthode d'analyse permettant d'évaluer la réponse à la progestine chez un sujet.

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