Fig. 3: Intact IGFBP7 expression is increased in large deletion (LD) and microdeletion (MD) cells, but there is no difference in IGFBP7 editing between controls and Prader–Willi syndrome (PWS) patients in induced pluripotent stem cell (iPSC)-derived neurons.
From: SNORD116 and growth hormone therapy impact IGFBP7 in Prader–Willi syndrome
(a) Western blot of IGFBP7 secreted in a medium of immortalized fibroblasts from controls and PWS subjects cultured for 96 hours. 50 µg of total protein were deposited per well. Detection was performed with antibodies directed against the (Ser28-Thr264) IGFBP7 sequence, which detect both intact (32 kDa) and cleaved (22 KDa) forms. The cleaved form was less detected in LD and MD cell extracts than in controls. PWS-LD large deletion, PWS-MD PWS microdeletion. (b) Nucleotide frequencies from RNA sequencing of raw data from Burnett et al.8 performed at the position hg19: chr4:57,976,229 (hg38: chr4:57,110,063), which includes the A to I editing site of IGFBP7 at codon 95, hypothetical target for proteases and proconvertase 1. Comparison between iPSC-derived neurons from 6 unaffected subjects (CON) (056LB, 1111, 1034, 1043, 1058-6, and 1058-B7), 1 PWS patient with large deletion LD (031MP), and 1 PWS patient with microdeletion (MD) (2 clones were used: MD A and MD C). Readings were mapped to a reference genome (human: NCBI/build37.2).
