Method for the identification of genes involved in neurodegenerative processes
OwnerMaria Fernanda Ceriani, Carolina Rezaval +1inventors
InventorsMaria Fernanda Ceriani, Carolina Rezaval, Jimena Berni
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Abstract
A method for the identification of genes involved in neurodegenerative processes, detectable by the late onset of a phenotype associated with neurodegeneration, by means of a genetic screen of deregulated genes, which comprises the measurement of sleep-wake cycle activity schemes in different stages of life, young and adult, of individuals of an animal model, such as Drosophila. A mutant fly whose genome comprises a disruption in its enabled gene, with decrease of the enabled gene expression, and exhibiting a late onset neurodegenerative phenotype in adulthood.
Claims15
A method for the identification of genes involved in late onset neurodegenerative processes by means of a genetic screen of deregulated genes in mutant flies, characterized by comprising:
- i) assessing the standard rhythmicity of locomotor activity in alternate cycles of light and darkness conditions, followed by a period in constant dakrness, in wild type non-mutant flies, at an early moment in life and at an intermediate stage in adult life;
- ii) generating a collection of mutant flies by random insertional mutagenesis with a transposon, followed by crossing to a transgenic line comprising a tissue-specific neuronal expression promoter, which regulates the transcription factor with recognition sites in the transposon;
- iii) assessing the rhythmicity of locomotor activity in alternate cycles of light and darkness conditions, followed by a period in constant dakrness, in mutant flies generated in step (ii) at an early moment in life and at an intermediate stage in adult life;
- iv) detecting and selecting the mutant individuals showing deviations with respect to the standard rhythmicity in said intermediate stage in adult life;
- v) identifying the transposon site of insertion;
- and
- vi) identifying the gene trapped by said insertion.
Mutant fly characterized by the fact that its genome comprises a disruption in the enabled gene, wherein said disruption strongly reduced the expression of the enabled gene, and said fly exhibits a late onset neurodegenerative phenotype in the adult stage of life.
Mutant fly characterized by the fact that its genome comprises a P[UAS] transposomal insert within an intergenic region between the genes CG 15133 and CG 6115, and said fly exhibits a late onset neurodegenerative phenotype in the adult stage of life.
Dependencies are inferred from the claim text.