Fig. 1

Identification of the C987X mutation (Tyr-to-stop-gain substitution at the amino acid site 329, a new truncation mutant, CYP17A1ΔECD: missing the N-terminal ectodomain) in the CYP17A1 gene from a Chinese Han family with inherited coronary artery disease (CAD). A Pedigree of a Chinese Han family with CAD. Squares and circles indicate males and females, respectively. Roman numerals indicate generations. Arabic numerals indicate individual family members. CYP17A1 genotype (half filled for C987X carriers, open for wild-type individuals) are shown below each square or circle. A shaded circle or square indicates that the family member had CAD alive, a slash on circle or square indicates that the member was died, and with a shadow and a slash simultaneously indicate that the family member died of CHD. B Genomic structure of human CYP17A1 gene. The del of cytosine in exon 6 causes a stop gain occurrence (indicated by arrow). DNA sequencing data of an unaffected man (III: 3) and an affected man (III: 4) with the heterozygous mutation in CYP17A1. C Glucose levels of the members of Family 1 (A). Data are expressed as mean ± SD. Statistical analyses, unpaired t test. *P < 0.05. D The protein levels of CYP17A1 and truncation mutant. Plasmids encoding Myc-tagged CYP17A1(WT) or CYP17A1(C987X) were transfected into HEK293T cells, and cells were harvested for Immunoblots analysis 48 hours later. β-acting was used as a loading control. E Relative mRNA levels of CYP17A1(WT) or CYP17A1(C987X) transfected at indicated time. F, Densitometric analysis of CYP17A1(WT) or CYP17A1(C987X) proteins shown in (D). Data are presented as mean±SD. Student’s t test; ns., no significant. ****P < 0.0001. n=3 biological replicates