| Title |
SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome
|
|---|---|
| Published in |
Human Genetics, March 2004
|
| DOI | 10.1007/s00439-004-1104-z |
| Pubmed ID | |
| Authors |
Maren Runte, Peter M. Kroisel, Gabriele Gillessen-Kaesbach, Raymonda Varon, Denise Horn, Monika Y. Cohen, Joseph Wagstaff, Bernhard Horsthemke, Karin Buiting |
| 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. |
Mendeley readers
The data shown below were compiled from readership statistics for 57 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | 2% |
| Unknown | 56 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 12 | 21% |
| Researcher | 11 | 19% |
| Student > Bachelor | 5 | 9% |
| Other | 5 | 9% |
| Student > Master | 5 | 9% |
| Other | 8 | 14% |
| Unknown | 11 | 19% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 17 | 30% |
| Agricultural and Biological Sciences | 15 | 26% |
| Neuroscience | 6 | 11% |
| Medicine and Dentistry | 3 | 5% |
| Chemical Engineering | 1 | 2% |
| Other | 2 | 4% |
| Unknown | 13 | 23% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 05 May 2012.
All research outputs
#8,534,528
of 25,371,288 outputs
Outputs from Human Genetics
#1,014
of 2,957 outputs
Outputs of similar age
#22,513
of 63,443 outputs
Outputs of similar age from Human Genetics
#5
of 14 outputs
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