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Article

SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome.

Human genetics - 1 May 2004

Runte Maren, Kroisel Peter M, Gillessen-Kaesbach Gabriele, Varon Raymonda, Horn Denise, Cohen Monika Y, Wagstaff Joseph, Horsthemke Bernhard, Buiting Karin

Abstract excerpt

The imprinted domain on human chromosome 15 consists of two oppositely imprinted gene clusters, which are under the control of an imprinting center (IC). The paternally expressed SNURF-SNRPN gene hosts several snoRNA genes and overlaps the UBE3A gene, which is encoded on the opposite strand, expressed - at least in brain cells - from the maternal chromosome only, and affected in patients with Angelman syndrome...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Chromosomes, Human, Pair 15

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Source

Identifiers

PMID: 15014980
DOI: 10.1007/s00439-004-1104-z

Genes

SNRPN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome.PMID 15014980Read ↗

The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3ASemantic proximity Read ↗

Regulation of the large (approximately 1000 kb) imprinted murine Ube3a antisense transcript by alternative exons upstream of Snurf/Snrpn.Semantic proximity Read ↗

Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes.Semantic proximity Read ↗

UBE3A/E6-AP mutations cause Angelman syndrome.Semantic proximity Read ↗

Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3aSemantic proximity Read ↗

Prader–Willi syndrome and Angelman syndromeSemantic proximity Read ↗

Maternal disruption of Ube3a leads to increased expression of Ube3a-ATS in trans.Semantic proximity Read ↗

Structure and function correlations at the imprinted mouse Snrpn locus.Semantic proximity Read ↗

The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletionSemantic proximity Read ↗

Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes.Semantic proximity Read ↗

Structure of the imprinted mouse Snrpn gene and establishment of its parental-specific methylation pattern.Semantic proximity Read ↗

The spectrum of mutations in UBE3A causing Angelman syndrome.Semantic proximity Read ↗

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