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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Acknowledgements
We thank R. Sierra for technical assistance and Y.-h. Jiang for discussions. We thank B. Horsthemke for communications and sharing information before publication. J.B. thanks T-F. T., without whose support and contributions, this work would not have been possible. This work was supported by US National Institutes of Health grant HD-37283 and Taiwan NSC89-2320-B-D10-044.
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Bressler, J., Tsai, TF., Wu, MY. et al. The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice. Nat Genet 28, 232–240 (2001). https://doi.org/10.1038/90067
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DOI: https://doi.org/10.1038/90067
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