Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Runte, M; Kroisel, PM; Gillessen-Kaesbach, G; Varon, R; Horn, D; Cohen, MY; Wagstaff, J; Horsthemke, B; Buiting, K.
SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome.
HUM GENET. 2004; 114(6): 553-561.
Doi: 10.1007/s00439-004-1104-z
Web of Science
PubMed
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- Co-Autor*innen der Med Uni Graz
- Kroisel Peter
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- Abstract:
- 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 (AS). In contrast to SNURF-SNRPN, imprinted expression of UBE3A is not regulated by a 5' differentially methylated region. Here we report that splice forms of the SNURF-SNRPN transcript overlapping UBE3A in an antisense orientation are present in brain but barely detectable in blood. In contrast, splice forms that do not overlap with UBE3A are of similar abundance in brain and blood. The tissue distribution of the splice forms parallels that of the snoRNAs encoded in the respective parts of the SNURF-SNRPN transcript. Using a quantitative PCR assay, we have found that the ratio of SNURF-SNRPN/UBE3A transcript levels is increased in blood cells of AS patients with an imprinting defect, but not in AS patients with a UBE3A mutation or an unknown defect. Our findings are compatible with the assumption that imprinted UBE3A expression is regulated through the SNURF-SNRPN sense- UBE3A antisense transcript.
- Find related publications in this database (using NLM MeSH Indexing)
- Alternative Splicing - genetics
- Angelman Syndrome - genetics
- Base Sequence - genetics
- Blotting, Southern - genetics
- Brain - metabolism
- Chromosomes, Human, Pair 15 - genetics
- DNA Primers - genetics
- Gene Expression Regulation - genetics
- Gene Frequency - genetics
- Genomic Imprinting - genetics
- Humans - genetics
- Molecular Sequence Data - genetics
- Mutation - genetics
- Nuclear Proteins - genetics
- RNA, Messenger - genetics
- RNA, Small Nucleolar - genetics
- Reverse Transcriptase Polymerase Chain Reaction - genetics
- Sequence Analysis, DNA - genetics
- Ubiquitin-Protein Ligases - metabolism