ArticleMammalian genome : official journal of the International Mammalian Genome Society2007
A targeted deletion upstream of Snrpn does not result in an imprinting defect.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.
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Who cites it
7 citing papers in PubMed, 1 synthesis or guideline pooled it, 13 citations in OpenAlex.
- Recommendations for the investigation of animal models of Prader-Willi syndrome.Mammalian genome : official journal of the International Mammalian Genome Society · 2013Guideline
- IPSC Models of Chromosome 15Q Imprinting Disorders: From Disease Modeling to Therapeutic Strategies.Advances in neurobiology · 2020Article
- A mouse model of Angelman syndrome imprinting defects.Human molecular genetics · 2019Article
- An unexpected function of the Prader-Willi syndrome imprinting center in maternal imprinting in mice.PloS one · 2012Article
- Transcription is required to establish maternal imprinting at the Prader-Willi syndrome and Angelman syndrome locus.PLoS genetics · 2011Article
- Targeted deletion of the Nesp55 DMR defines another Gnas imprinting control region and provides a mouse model of autosomal dominant PHP-Ib.Proceedings of the National Academy of Sciences of the United States of America · 2010Article
- Atp10a, a gene adjacent to the PWS/AS gene cluster, is not imprinted in mouse and is insensitive to the PWS-IC.Neurogenetics · 2010Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) result from the disturbance of imprinted gene expression within human chromosome 15q11-q13. Some cases of PWS and AS are caused by microdeletions near the SNRPN gene that disrupt a regulatory element termed the imprinting center (IC). The IC has two functional components; an element at the promoter of SNRPN involved in PWS (PWS-IC) and an element 35 kilobases (kb) upstream of SNRPN involved in AS (AS-IC). To further understand the function of the IC, we sought to create a mouse model for AS-IC mutations. We have generated two deletions at a location analogous to that of the human AS-IC. Neither deletion produced an imprinting defect as indicated by DNA methylation and gene expression analyses. These results indicate that no elements critical for AS-IC function in mouse reside within the 12.8-kb deleted region and suggest that the specific location of the AS-IC is not conserved between human and mouse.
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Registered trials
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