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. 2020 Jul 31;107(2):311–324. doi: 10.1016/j.ajhg.2020.06.016

Figure 5.

Figure 5

BN-PAGE and iNPC RNA-Sequencing

(A) iNPCs from P26 (c.50C>T [p.Thr17Met]) and P29 (c.203dupA [p.Met69Aspfs∗4] and c.1067A>C [p.Asp356Ala]) exhibit increased expression of most iNPC markers (sox1, sox2, nestin, snail1, pax6, DKK3, twist2, and Musashi-1) compared to fibroblast (fbb) as measured by qPCR, shown with hierarchal clustering.

(B) Heatmap with hierarchal clustering generated using all gene counts from RNaseq distinction of control (Ctrl1 a–c, Ctrl2 a–c) and individual-derived (P26 a–b, P29 a–c) iNPCs.

(C) Volcano plot showing log2 of fold change in NARS mutant iNPCs compared to controls and −log10 (adjusted p value).

(D) BN-PAGE western blot showing reduced levels of the AsnRS1 dimer in individuals P26 and P29 and fathers compared to control, but not for individual P10.

(E) Quantification of BN-PAGE western blot AsnRS1 dimer formation, showing significantly (∗∗∗p < 0.001) reduced levels of the AsnRS1 in individuals P26 and P29 and fathers compared to control but not change for P10.

P26 = homozygous c.50C>T (p.Thr17Met), P29 = c.203dupA (p.Met69Aspfs∗4), c.1067A>C (p.Asp356Ala), P10 = c.1633C>T (p.Arh545Cys), father of P26 = heterozygous c.50C>T (p.Thr17Met), father of P29 = c.1067A>C (p.Asp356Ala).