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Fig. 6 | Mobile DNA

Fig. 6

From: Properties of LINE-1 proteins and repeat element expression in the context of amyotrophic lateral sclerosis

Fig. 6

Effects of wild-type and mutant ALS-associated proteins on retrotransposon activity. a Plots of RPKM values for selected primate-specific non-LTR L1, Alu and SVA or LTR5_Hs (HERV-K(HML-2)) and LTR7Y (HERV-H) retrotransposon subfamilies in RNA-Seq data of control and TDP-43-depleted HeLa cells of study SRP057819 [147] (left). The percentage of reads originating from retrotransposons among total mapped reads (TEs and genes; right). b Plots of RPKM values for selected primate-specific retrotransposon subfamilies for human iPSC-derived motor neurons depleted or not depleted of TDP-43 by shRNA targeting from study GSE77702 [148]. Two replicate libraries were generated and sequenced in the GSE77702 dataset (left). The percentage of retrotransposon-related reads among total mappable reads (right). Scatter plot of the expression profiles of all genes (blue) and retrotransposon TEs (red) for the TDP-43 knockdown versus control motor neuron samples of GSE77702 (bottom). c Mutations within the nuclear localization signal (NLS) and RRM2 domains partially rescue inhibition of cell culture L1 retrotransposition by wild-type V5-tagged TDP-43. Top: the domain structure of TDP-43 showing the location of point mutations tested. NTD: N-terminal domain. n=number of biological replicates. d The ALS-associated ANG mutation H37R, but not H138R, significantly rescues cell culture L1 retrotransposition inhibition caused by expression of wild-type V5-ANG. e ALS-associated point mutations within the NLS of FLAG-tagged FUS significantly reduce cell culture retrotransposition compared with the wild-type protein. Statistical significance was calculated by Student’s t-test (*, p<0.05; **, p<0.01; ***, p<0.001)

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