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. Author manuscript; available in PMC: 2023 Feb 1.
Published in final edited form as: Genet Med. 2021 Nov 30;24(2):319–331. doi: 10.1016/j.gim.2021.09.014

Figure 4. ADD1 variants disrupt protein functions.

Figure 4.

A) Expression of the ADD1 wildtype and mutant forms in Neuro2a cells showing that the Chr4:2877811 A>T (hg19, p.R57W) variant leads to a noticeable amount of truncated proteins (white arrows).

B) Immunostaining results using antibodies against ADD1 N terminal (ADD1(NT), green) and C terminal (ADD1(CT), red)) antibodies showing reduced protein level in ADD1 heterozygous (+/−) HEK293FT cells. Scale bar: 20μm.

C) Coimmunoprecipitation of V5-ADD2 transfected with indicated versions of HA-ADD1 (white stars) in HEK293FT cells, showing that ADD1 p.R57W and p.W473* reduced ADD1-ADD2 protein interaction.

D) Statistical analysis of signals in C) *P < 0.05, ** P < 0.01, t-test.

E) Coimmunoprecipitation of V5-ADD2 transfected with indicated versions of HA tagged ADD1 N-terminus (1-430 amino acids) in Neuro2a cells showing that p.H224Y reduced ADD1-ADD2 protein interaction.

F) Statistical analysis of signals in E) ****P< 0.0001, t-test.

See also Figure S4.