Meganuclease variants cleaving a dna target sequence from...

C - Chemistry – Metallurgy – 12 – N

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C12N 9/22 (2006.01) A01K 67/00 (2006.01) A61K 38/46 (2006.01) C12N 15/90 (2006.01)

Patent

CA 2694205

An I-CreI variant, wherein one of the two I-CreI monomers has at least two substitutions, one in each of the two functional subdomains of the LAGLIDADG core domain situated respectively from positions 26 to 40 and 44 to 77 of I-CreI, said variant being able to cleave a DNA target sequence from the human beta globin gene. Use of said variant and derived products for the prevention and the treatment of pathological conditions caused by a mutation in the human beta globin gene (sickle cell disease, beta-thalassemia).

L'invention porte sur un variant I-CreI, l'un des deux monomères I-CreI ayant au moins deux substitutions, l'une dans chacun des deux sous-domaines fonctionnels du domaine de noyau LAGLIDADG situés respectivement à partir des positions 26 à 40 et 44 à 77 de l'I-CreI, ledit variant pouvant cliver une séquence cible d'ADN provenant du gène de la bêta globine humaine. L'invention porte également sur l'utilisation dudit variant et sur des produits dérivés pour la prévention et le traitement d'états pathologiques provoqués par une mutation dans le gène de la bêta globine humaine (anémie à hématies falciformes, bêta-thalassémie).

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