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. 2022 Nov 8;7(21):e154948. doi: 10.1172/jci.insight.154948

Figure 3. V171L and Q191X destabilize the expression of GINS4 and other GINS proteins and impair GINS complex assembly.

Figure 3

(A) GINS4 and GINS1 protein expression in BLCL derived from siblings and parents compared with those from 2 healthy donors (HD). Relative GINS4 protein expression of family members and 2 HDs from 3 independent experiments. (B) GINS complex 3D structure showing the position of V171L and Q191X variants. (C) GINS2 and GINS3 protein expression in BLCL derived from siblings and parents compared with 2 HD. One representative experiment of 3 independent experiments is shown (D) HEK293T cells were transiently transfected with Myc-GINS4 WT, Myc-GINS4-V171L, or Myc-GINS4 Q191X plasmids. After 48 hours, whole cellular extracts were immunoprecipitated with anti-MYC, and blots were probed for GINS1, GINS2, GINS3, and MYC. Data are representative of 3 independent experiments.