The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice. |
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| Authors: | J Bressler T F Tsai M Y Wu S F Tsai M A Ramirez D Armstrong A L Beaudet |
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| Institution: | Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. |
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| 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. |
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