Lyst1 and lyst2 gene compositions and methods of use

Details Lyst1 and lyst2 gene compositions and methods of use Lyst1 and lyst2 gene compositions and methods of use

C - Chemistry, Metallurgy

12

N

C12N 15/12 (2006.01) A01K 67/027 (2006.01) A61K 38/10 (2006.01) A61K 38/17 (2006.01) C07H 21/00 (2006.01) C07K 14/47 (2006.01) C07K 16/18 (2006.01) C12Q 1/68 (2006.01) G01N 33/53 (2006.01)

Patent

CA 2244744

Disclosed are compositions comprising murine Lyst1 and Lyst2 genes and human LYST1 and LYST2 genes. Also disclosed are the Lyst1, Lyst2, LYST1, and LYST2 proteins encoded by these genes, respectively. Also disclosed are methods of using these genes in identifying patients with Chediak-Higashi Syndrome and detecting CHS-related nucleic acid and/or protein sequences. Also disclosed are methods for the recombinant expression of LYST1, Lyst1, LYST2, and Lyst2 polypeptides, antibodies raised against these polypeptides, and therapeutic approaches to treatment of autoimmune diseases and certain types of tumors. Assays for detection of the gene mutations resulting in CH Syndrome, as well as diagnostic probes for the detection of Lyst1, Lyst2, LYST1, and LYST2 genes are also provided.

Compositions contenant les gènes murins Lyst1 et Lyst2 et les gènes humains LYST1 et LYST2. Sont également décrites les protéines Lyst1, Lyst2, LYST1 et LYST2 codées par ces gènes, respectivement. L'invention concerne en outre des procédés d'utilisation de ces gènes dans le dépistage du syndrome de Chediak-Higashi et la détection des acides nucléiques et/ou des séquences de protéines liées à cette maladie. Des procédés d'expression par recombinaison de polypeptides LYST1, Lyst1, LYST2 et Lyst2, des anticorps dirigés contre ces polypeptides et des méthodes thérapeutiques pour le traitement de maladies auto-immunes et de certains types de tumeurs sont également décrits. Enfin, on présente des méthodes de détection des mutations de gène aboutissant au syndrome de Chediak-Higashi, ainsi que des sondes de diagnostic pour la détection des gènes Lyst1, Lyst2, LYST1 et LYST2.

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