FIGURE

Fig. 2

ID
ZDB-FIG-210215-2
Publication
Nishiguchi et al., 2021 - A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa
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Fig. 2

Degradation of the <italic>EYS</italic> G843E mutant mRNA in patient-derived lymphoblastoid cell lines (LCLs).

a A schematic map of the RT-PCR primer designed in relation to the exon–intron structure and mutations (G843E and S1653Kfs) in EYS and published transcript variants (Tv)25. The locations of G843E (Exon 16) and S1653Kfs (Exon 26) are indicated by the arrows. Exon numbers are based on Tv1. Note, Tv5 was identified only in fibroblasts25. b RT-PCR analysis. The regions for exons 5–6, exons 14–18, and exons 40–43 of EYS were amplified on cDNA generated from patient-derived lymphoblast cell lines with wild-type EYS (normal), homozygous S1653Kfs, and homozygous G843E. The Y79 retinoblastoma cell line was used as a positive control. Note C-terminal exons of the long isoform Tv1 were detected in LCLs with homozygous G843E but not in that with homozygous S1653Kfs. Sanger sequencing of the RT-PCR amplicon confirmed the expression of the G843E mutation using a primer pair targeting exons 14–18. Meanwhile, mRNA for exons 4–5 and 14–18 were detectable, possibly reflecting the differential expression of distinct EYS isoforms25. c Chromatogram for RT-PCR amplicon (exons 14–18). Note, G843E variant is present in the patient’s mRNA. d RT-PCR analysis after mutation replacement genome-editing treatment (GE) or inhibition of nonsense-mediated mRNA decay (NMD) in LCL from an S1653Kfs homozygote, after which expression of exons 40–43 was detected.

Expression Data

Expression Detail
Antibody Labeling
Phenotype Data

Phenotype Detail
Acknowledgments
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