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Review

Small regulatory RNAs controlled by genomic imprinting and their contribution to human disease

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Pages 1341-1348 | Published online: 15 Nov 2012

Figures & data

Figure 1. Human imprinted domains with clustered non-coding RNAs. (A) The DLK1-DIO3 imprinted domain on chromosome 14q32.2 contains 53 microRNAs and 38 C/D-box small nucleolar RNAs (C/D snoRNAs). Eight piwi interacting RNAs (piRNAs) were identified in human testis and map uniquely to the five snoRNAs marked with an asterisk: SNORD113–1 is the precursor of piR-31650 (*); SNORD114-1 of piR-34456, piR-33510 and piR-34420 (***); SNORD114-3 of piR-34372 (*); SNORD114-22 of piR-33372 and piR-34929 (**); SNORD114-23 of piR-34291 (*).Citation30 (B) The Prader-Willi Syndrome (PWS) and Angelman Syndrome (AS) imprinted domain on chromosome 15q11–13 contains five snoRNAs and two clusters of 29 and 47 snoRNAs, respectively. (C) The chromosome 19 microRNA cluster (C19MC) on chromosome 19q13 contains 46 microRNAs. Small RNAs expressed from the maternal allele are colored in red (Mat), while small RNAs expressed from the paternal allele are indicated in blue (Pat). Arrows indicate transcriptional start sites, green boxes indicate CpG islands, and black lollipops indicate differential DNA methylation (above the black line: methylation on the maternal allele; below the line: methylation on the paternal chromosome).

Figure 1. Human imprinted domains with clustered non-coding RNAs. (A) The DLK1-DIO3 imprinted domain on chromosome 14q32.2 contains 53 microRNAs and 38 C/D-box small nucleolar RNAs (C/D snoRNAs). Eight piwi interacting RNAs (piRNAs) were identified in human testis and map uniquely to the five snoRNAs marked with an asterisk: SNORD113–1 is the precursor of piR-31650 (*); SNORD114-1 of piR-34456, piR-33510 and piR-34420 (***); SNORD114-3 of piR-34372 (*); SNORD114-22 of piR-33372 and piR-34929 (**); SNORD114-23 of piR-34291 (*).Citation30 (B) The Prader-Willi Syndrome (PWS) and Angelman Syndrome (AS) imprinted domain on chromosome 15q11–13 contains five snoRNAs and two clusters of 29 and 47 snoRNAs, respectively. (C) The chromosome 19 microRNA cluster (C19MC) on chromosome 19q13 contains 46 microRNAs. Small RNAs expressed from the maternal allele are colored in red (Mat), while small RNAs expressed from the paternal allele are indicated in blue (Pat). Arrows indicate transcriptional start sites, green boxes indicate CpG islands, and black lollipops indicate differential DNA methylation (above the black line: methylation on the maternal allele; below the line: methylation on the paternal chromosome).

Figure 2. Human imprinted genes comprising isolated microRNAs. (A) The H19/IGF2 imprinted domain on chromosome 11 contains 2 microRNAs, miR-675 matured from the H19 transcript expressed from the maternal chromosome, and miR-483 matured from the IGF2 transcript expressed from the paternal chromosome. The ICR (imprinted control region) is methylated on the paternally inherited chromosome. (B) The MEST imprinted domain on chromosome 7 contains the miR-335 precursor sequence in the second intron of the MEST gene expressed from the paternal chromosome. The ICR comprises the MEST promoter and is methylated on the maternal chromosome. (C) The GNAS imprinted domain on chromosome 20 contains two microRNAs (miR-296, miR-298) matured from the 3′UTR of the NESPAS transcript expressed from the paternal chromosome. Dotted lines depict splicing events during transcription of the locus.

Figure 2. Human imprinted genes comprising isolated microRNAs. (A) The H19/IGF2 imprinted domain on chromosome 11 contains 2 microRNAs, miR-675 matured from the H19 transcript expressed from the maternal chromosome, and miR-483 matured from the IGF2 transcript expressed from the paternal chromosome. The ICR (imprinted control region) is methylated on the paternally inherited chromosome. (B) The MEST imprinted domain on chromosome 7 contains the miR-335 precursor sequence in the second intron of the MEST gene expressed from the paternal chromosome. The ICR comprises the MEST promoter and is methylated on the maternal chromosome. (C) The GNAS imprinted domain on chromosome 20 contains two microRNAs (miR-296, miR-298) matured from the 3′UTR of the NESPAS transcript expressed from the paternal chromosome. Dotted lines depict splicing events during transcription of the locus.
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