The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice
- 1 July 2001
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 28 (3) , 232-240
- https://doi.org/10.1038/90067
Abstract
In mice and humans, the locus encoding the gene for small nuclear ribonucleoprotein N (SNRPN/Snrpn), as well as other loci in the region are subject to genomic imprinting. The SNRPN promoter is embedded in a maternally methylated CpG island, is expressed only from the paternal chromosome and lies within an imprinting center that is required for switching to and/or maintenance of the paternal epigenotype. We show here that a 0.9-kb deletion of exon 1 of mouse Snrpn did not disrupt imprinting or elicit any obvious phenotype, although it did allow the detection of previously unknown upstream exons. In contrast, a larger, overlapping 4.8-kb deletion caused a partial or mosaic imprinting defect and perinatal lethality when paternally inherited.Keywords
This publication has 45 references indexed in Scilit:
- Towards a molecular understandingof Prader-Willi and Angelman syndromesHuman Molecular Genetics, 1999
- Imprinting-Mutation Mechanisms in Prader-Willi SyndromeAmerican Journal of Human Genetics, 1999
- Prader-Willi Syndrome Is Caused by Disruption of the SNRPN GeneAmerican Journal of Human Genetics, 1999
- Imprinting in Prader–Willi and Angelman syndromesTrends in Genetics, 1998
- Balanced Translocation 46, XY, t(2;15)(q37.2;q11.2) Associated with Atypical Prader-Willi SyndromeAmerican Journal of Human Genetics, 1997
- Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN geneNature Genetics, 1996
- Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.Proceedings of the National Academy of Sciences, 1996
- Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpointNature Genetics, 1996
- Inherited microdeletions in the Angelman and Prader–Willi syndromes define an imprinting centre on human chromosome 15Nature Genetics, 1995
- Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control regionNature Genetics, 1994