| Title |
Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader–Willi syndrome
|
|---|---|
| Published in |
Human Genetics, November 2004
|
| DOI | 10.1007/s00439-004-1219-2 |
| Pubmed ID | |
| Authors |
Maren Runte, Raymonda Varon, Denise Horn, Bernhard Horsthemke, Karin Buiting |
| Abstract |
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct neurogenetic disorders caused by the loss of function of imprinted genes in 15q11-q13. The maternally expressed UBE3A gene is affected in AS. Four protein-encoding genes (MKRN3, MAGEL2, NDN and SNURF-SNRPN) and several small nucleolar (sno) RNA genes (HBII-13, HBII-436, HBII-85, HBII-438A, HBII-438B and HBII-52) are expressed from the paternal chromosome only but their contribution to PWS is unclear. To examine the role of the HBII-52 snoRNA genes, we have reinvestigated an AS family with a submicroscopic deletion spanning UBE3A and flanking sequences. By fine mapping of the centromeric deletion breakpoint in this family, we have found that the deletion affects all of the 47 HBII-52 genes. Since the complete loss of the HBII-52 genes in family members who carry the deletion on their paternal chromosome is not associated with an obvious clinical phenotype, we conclude that HBII-52 snoRNA genes do not play a major role in PWS. However, we cannot exclude the possibility that the loss of HBII-52 has a phenotypic effect when accompanied by the loss of function of other genes in 15q11-q13. |
Mendeley readers
The data shown below were compiled from readership statistics for 51 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Canada | 2 | 4% |
| United States | 1 | 2% |
| United Kingdom | 1 | 2% |
| Unknown | 47 | 92% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 13 | 25% |
| Student > Bachelor | 8 | 16% |
| Researcher | 6 | 12% |
| Student > Master | 6 | 12% |
| Student > Doctoral Student | 3 | 6% |
| Other | 10 | 20% |
| Unknown | 5 | 10% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 16 | 31% |
| Biochemistry, Genetics and Molecular Biology | 13 | 25% |
| Medicine and Dentistry | 7 | 14% |
| Neuroscience | 3 | 6% |
| Psychology | 1 | 2% |
| Other | 3 | 6% |
| Unknown | 8 | 16% |
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 20 October 2021.
All research outputs
#7,451,584
of 22,780,967 outputs
Outputs from Human Genetics
#933
of 2,951 outputs
Outputs of similar age
#36,176
of 140,768 outputs
Outputs of similar age from Human Genetics
#2
of 13 outputs
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