FIGURE

Fig. 4

ID

ZDB-FIG-251223-23

Publication

Kröll-Hermi et al., 2025 - Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability

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Fig. 4

PRMT9 fails to methylate the splicing factor SAP145 in cells from affected individuals (A) PRMT9 is known to symmetrically dimethylate Arg508 of SAP145 (SDMA). Due to the interaction with the splicing factor SAP145, PRMT9 was suggested to regulate alternative splicing.10 (B) Western blot analysis of PRMT9, SAP145, and SDMA (SAP145 dimethylated) in control and individuals’ fibroblasts (A.II-1 and C.II-2) cultured under normal conditions (+FCS) (n = 2). β-Tubulin serves as a loading control. SAP145 signal is present in all samples but weak in control. Western blot highlights the dimethylation of SAP145 (SDMA) in control cells, while no dimethylation of SAP145 is possible in defective PRMT9 cells (i.e., no protein in A.II-1 or likely presence of a defective PRMT9 protein in C.II-2).

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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