Fig. 2: Structure of the Prader–Willi syndrome (PWS) locus and consequence of large deletion (LD) or microdeletion (MD) on IGFBP7 and proconvertases 1 and 2 (PCSK1/PCSK2) and NHLH2 expression in iPSC-derived neurons at day 34, and responses to IGF1.
From: SNORD116 and growth hormone therapy impact IGFBP7 in Prader–Willi syndrome
(a) Diagram of the human PWS locus 15q11-q13. Maternally expressed genes are indicated in pink, paternally expressed genes in blue. Protein-coding genes are shown as ovals; small nucleolar RNAs (snoRNAs) as bars (SNORD116: 29 copies, SNORD115: 48 copies) the imprinting center (IC) is shown by ovals. LD large deletion, MD microdeletion including SNORD116. Drawing is not to scale. (b) Values of quantitative reverse transcription polymerase chain reaction (qRT-PCR) analysis of IGFBP7. (c) PCSK1, NHLH2, and PCSK2 messenger RNA (mRNA) expression (left, middle, and right, respectively) in untreated induced pluripotent stem cell (iPSC)-derived neurons and treated with IGF1 in phosphate buffered saline (PBS) 10 ng/ml for 2 hours. Data are from a male control subject (CON) (056LB), MD (2 clones: MD-A and MD-C) female, and LD (031MP) female. TBP (TATA-binding protein) was used as a housekeeping gene as reference. Results were from three independent experiments. The comparison was assessed by a two-tailed Student’s t-test. Data are expressed as mean ± SEM. *P < 0.05, **P < 0.01, ***P < 0.001. ns nonsignificant.
