Figure 2. Individuals with insertion in intron 1 of KCNIP1 have a higher KCNIP1 mRNA expression.

(a) Top panel: The detection of insertion/deletion in intron 1 of human KCNIP1 was performed by PCR amplification of genomic DNA with primers targeting the sequences within the CNV segment in intron 1 of human KCNIP1. No PCR band indicates homozygous deletion (copy number (CN)=0) (patients 1–4, 9 and 10); the presence of one PCR band (479 bp) indicates homozygous insertion (CN=2)(patients 5–8). Middle and lower panels: KCNIP1 and GAPDH mRNA expressions were semiquantified by PCR with reverse transcription and visualized by electrophoresis. White blood cell mRNA samples from those with KCNIP1 intron homozygous insertion (patients 5–8) show higher PCR band density, indicating a higher KCNIP1 mRNA level. Arrows indicate the locations of PCR bands. (b) Quantification of KCNIP1 expression (normalized to GAPDH) in patients with CN=0 and those with CN=2. Data are representative of three independent experiments. Error bars, s.d. Mann–Whitney U-test; *P<0.05. Full-length blots are presented in Supplementary Fig. 5.