FIGURE

Fig. 3

ID
ZDB-FIG-200310-7
Publication
Perenthaler et al., 2019 - Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases
Other Figures
All Figure Page
Back to All Figure Page
Fig. 3

UGP2 short isoform is predominant in brain-related cell types. a Western blotting showing UGP2 expression in H9 human embryonic stem cells (ESCs), H9-derived neural stem cells (NSCs) and fibroblasts (Fibro). Vinculin is used as a housekeeping control. Note the changes in relative expression between the two UGP2 isoforms in the different cell types. L, ladder. b Western blot quantification of the fraction of short UGP2 protein isoform compared to total UGP2 expression, as determined in three independent experiments. Error bars represent SEM. c Multiplex RT-PCR of ESCs, NSCs and fibroblasts, showing a similar variability in isoform expression at the transcript and at the protein level. Each cell line was tested in triplicates. d Quantification of the fraction of the short UGP2 transcript isoform compared to total UGP2 expression, from the multiplex RT-PCR from c. Error bars represent SEM. e Quantification of the fraction of short UGP2 transcript isoform compared to total UGP2 expression by qRT-PCR in three independent experiments. Error bars represent SEM. f Ratio of RNA-seq reads covering the short transcript isoform compared to the total reads (covering both short and long isoforms), in multiple fetal tissues. In RNA-seq samples derived from brain, virtually all UGP2 expressions come from the short isoform. Error bars represent SD. g Immunohistochemistry detecting UGP2 in human fetal brains from the first, second and third trimester (gestational week (GW) 6, 9, 23 and 36). See text for details. h Western blotting detecting UGP2 in various human brain regions at weeks 14, 20 and 28 of gestation, showing the virtual absence of the long isoform expression in fetal brain. Vinculin is used as a housekeeping control. L ladder

Expression Data

Expression Detail
Antibody Labeling
Phenotype Data

Phenotype Detail
Acknowledgments
This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ Acta Neuropathol.