© 1993 Oxford University Press
RESEARCH-ARTICLE |
Functional imprinting and epigenetic modification of the human SNRPN gene
1R C Philips Research and Education Unit, Division of Genetics, Department of ediatrics Gainesville, FL 32610, USA Center for Mammalian Genetics, University of Florida College of Medicine Gainesville, FL 32610, USA 2Department of Immunology and Medical Microbiology, University of Florida College of Medicine Gainesville, FL 32610, USA 3Department of Neuroscience, and University of Flonda Brain Institute, University of Florida College of Medicine Gainesville, FL 32610, USA
*To whom correspondence should be addressed at: Division of Pediatric Genetics, Box 100296, University of Florida Health Science Center, Gainesville, FL 32610, USA
Received September 24, 1996; Revised October 22, 1993; Accepted October 22, 1993
The SNRPN gene encodes a small nuclear ribonucleoprotein subunit, SmN, thought to be Involved in spllcing of pre-mRNA. A closely related protein, SmB/B', Is constitutively expressed in all tissues except the brain, where SmN is predominantly expressed. The mouse homolog of the SNRPN gene has been shown to be functionally Imprinted in mouse brain, being expressed only from the paternally derived chromosome. SNRPN has been mapped to human chromosome 15q11 –q13 within the shortest region of deletion overlap for the Prader— Willi syndrome. We have now demonstrated functional imprinting of the human SNRPN gene using reverse transcription followed by the polymerase chain reaction (RT-PCR). No expression was observed in cultured skin fibroblasts of Prader—Willi patients, but was found in all Angelman patients and normal controls examined. We have also demonstrated a parent-specific DNA methylation imprint within Intron 5 of the SNRPN gene, which suggests an epigenetic mechanism by which parent-specific expression of this gene might be Inherited. Our findings Indicate that SNRPN is expressed only from the paternally derived chromosome 15 in humans and therefore may fullfill one major criterion for being involved in the pathogenesis of the Prader—Willi syndrome.
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