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. 2016 Jul 28;99(2):451–459. doi: 10.1016/j.ajhg.2016.06.011

Figure 2.

Figure 2

Effects of ARCN1 Mutation

(A) Structure of ARCN1 (GenBank: NM_001655) and the location of ARCN1 mutations identified. Subject 1 has a stop mutation in exon 2, c. 260C>A (p.Ser87∗). Subject 2 has a frameshift mutation in exon 4, c.633del (p.Val212Trpfs∗15). Subjects 3 and 4 have a common ARCN1 mutation in exon 2, c.157_158del (p.Ser53Cysfs∗39).

(B) mRNA expression of ARCN1 in HCT116 cell lines with and without ARCN1 mutation. RNA extraction was performed with TRIzol reagent (15596-018, Ambion) and Nucleospin RNA kits (Macherey-Nagel). The RNA obtained was reverse transcribed with a SuperScript VILO cDNA Synthesis Kit (11754-050, Invitrogen). The PCR primer sets used for qRT-PCR are listed in Table S2. ARCN1 expression was normalized against GAPDH. ARCN1 expression relative to that of the control sample (WT #1) is demonstrated. Data represent mean ± 2 SD. ∗∗∗p < 0.001, two-tailed t test. n = 3 technical replicates per group. Three biological replicates for each sample demonstrated consistent results. WT, wild-type.

(C) Amounts of ARCN1 in HCT116 cell lines with and without ARCN1 mutation. The ARCN1 antibody (ab96725) and histone H3 antibody (ab1791) were from Abcam. Three biological replicates for each sample demonstrated consistent results.