Discovery of possible connection between cln3 and cisd2 gene through notch signaling Rebecca Culpepper.

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Discovery of possible connection between cln3 and cisd2 gene through notch signaling Rebecca Culpepper

Genetic Diseases Mutations Deadly, Debilitating CISD2 CLN3

What connects one genes function to another genes function? Notch Signaling JNK Signaling Synthesis of Sphingolipids

Notch signaling Refurbished/edited fig 1 graphic from paper Borggrefe, T., & Oswald, F. (2009). The Notch signaling pathway: Transcriptional regulation at Notch target genes. Cellular and Molecular Life Sciences, 66(10), 1631-1646.

How are these genes connected Is there a connection of CLN3 gene and CISD2 gene through the notch signaling pathway? CISD2 CLN3 Notch signaling

How are these genes connected Knockdown CLN3 signaling CISD2

Gene Manipulation Gal4-UAS system Refurbished/edited fig 1 graphic from paper Brand, A.H. and Perrimon, N. (1993). Targeted gene expression as a means of altering cell fates and generating dominate phenotypes. Development, 118, 401-415.

Gene Manipulation RNAi transgenes Refurbished/edited fig 1 & fig 3 graphic from paper Pratt, A., & Macrae, I. (2009). The RNA-induced Silencing Complex: A Versatile Gene-silencing Machine. Journal Of Biological Chemistry, 284(27), 17897-17901.

Notch signaling a connection for genes If phenotype worse, notch part of signal If phenotype not worse, notch not part of signal Refurbished/edited fig 3 graphic from paper Jones, M., Amr, S., Ferebee, A., Huynh, P., Rosenfeld, J., Miles, M., . . . Grotewiel, M. (2014). Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease. Biology Open, 3(5), 342-52.

Connections between genes Test different genes with functions to see changes Understand better the functional connections between genes to add to knowledge about genes and the diseases they cause.