Fig. 1

Schematic illuminations of representative imprinted gene clusters in humans. a The imprinted gene clusters within Prader–Willi syndrome (PWS)–Angelman syndrome (AS) (PWS–AS) region are shown. b The imprinted genes of potassium voltage-gated channel subfamily Q member 1 (KCNQ1) and H19 (which encodes an imprinted maternally expressed non-coding transcript)–insulin-like growth factor 2 (IGF2) (H19–IGF2) clusters, associated with Beckwith–Wiedemann syndrome (BWS) and Silver–Russell syndrome (SRS), are shown. c The GNAS (which encodes the G protein α-subunit Gsα) cluster of imprinted genes associated with pseudohypoparathyroidism is shown. Different transcripts originate from alternative 5’ exons display parental-specific expression pattern in certain tissues. d The delta-like 1 homologue (DLK1)–iodothyronine deiodinase 3 (DIO3) (DLK1–DIO3) cluster of imprinted genes associated with Temple syndrome (TS14) and Kagami–Ogata syndrome (KOS14) is shown. Chr, chromosome; ICR, imprinting control region; DMR, differentially methylated region, CTCF, CCCTC-binding factor; snoRNAs, small nucleolar RNAs; and miRNAs, microRNAs