"The SNRPN Promoter is Not Required for Genomic Imprinting of the Prader-Willi/Angelman Domain in Mice".
Jan Bressler 1, Ting-Fen Tsai 1, 3, Mei-Yi Wu 1, 3, Shih-Feng Tsai 4, Maricela A. Ramirez 1, Dawna Armstrong 2 , & Arthur L. Beaudet 1
1 Department of Molecular and Human Genetics, Baylor College
of Medicine, Houston, Texas, USA.
2 Department of Pathology, Baylor College of Medicine,
Houston, Texas, USA.
3 Department of Life Sciences, National Yang- Ming University,
Taipei, Taiwan.
4 Institute of Genetics, National Yang- Ming University,
Taipei, Taiwan.
Correspondence should be addressed to: A L Beaudet.
e-mail: abeaudet@bcm.tmc.edu
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.
1. "Identification of Brain-Specific and Imprinted Small Nucleolar RNA Genes Exhibiting an Unusual Genomic Organization", Proc. Natl. Acad. Sci. USA, vol. 97, no. 26, pp. 14311-14316 (December 19, 2000).
2. "Imprinted Expression of Small Nucleolar RNAs in Brain: Time for RNomics", Proc. Natl. Acad. Sci. USA, vol. 97, pp. 14035-14037 (December 19, 2000).
3. "RNomics: an Experimental Approach that Identifies 201 Candidates for Novel, Small, Non-Messenger RNAs in Mouse", EMBO Journal, vol. 20, no. 11, 2943-2953 (June 1, 2001).
4. "Activation of DNA Transcription within Repressed Chromatin by Nuclear RNA Species", RNA 2001, p. 237 (May 30, 2001).