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Fig. 3 | Genome Biology

Fig. 3

From: Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6

Fig. 3

A mouse Adamts6 ENU mutant and predicted damaging ADAMTS6 variants have impaired secretion. a, b Representative western blots using anti-Myc antibody show a major molecular species of 150 kDa in HEK293F cell lysates, corresponding to the ADAMTS6 zymogen (Z). In contrast, the culture medium of cells transfected with WT ADAMTS6 shows a 130 kDa species, corresponding to mature (M, i.e. furin-processed) ADAMTS6. a The p.Ser149Arg murine variant is not secreted into the culture medium. b The predicted damaging human variants, p.Ser90Leu and p.Arg603Trp, have reduced secretion, whereas the predicted benign variants, p.Ser210Leu and p.Met752Val, are secreted normally. Lysate and medium of HEK293F cells transfected with an empty vector (EV) lack immunoreactivity. The membrane was subsequently re-blotted using an anti-GAPDH monoclonal antibody to demonstrate comparable sample loading. c, d Densitometry of ADAMTS6 signal in lysates (c) and medium (d) shows reduced secretion of p.Ser90Leu and p.Arg603Trp variants and normal secretion of p.Ser210Leu and p.Met752Val into the medium, relative to the WT control (*P ≤ 0.01 for n = 3 transfections of each vector)

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