6533b7d1fe1ef96bd125d57e
RESEARCH PRODUCT
Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene
Karin BuitingRobert D. NichollsJessica L. BuxtonBernhard HorsthemkeAnnemarie PoustkaBärbel DittrichShinji SaitohShinji SaitohSarah RickardAndreas WinterpachtBernhard ZabelBernd Kornsubject
Geneticscongenital hereditary and neonatal diseases and abnormalitiesChromosome 15ExonAlternative splicingHappy puppet syndromeGeneticsBiologyImprinting (psychology)Genomic imprintingGeneSNRPN Genedescription
Imprinting on human chromosome 15 is regulated by an imprinting centre, which has been mapped to a 100–kb region including exon 1 of SNRPN. From this region we have identified novel transcripts, which represent alternative transcripts of the SNRPN gene. The novel exons lack protein coding potential and are expressed from the paternal chromosome only. We have also identified intragenic deletions and a point mutation in patients who have Angelman or Prader–Willi syndrome due to a parental imprint switch failure. This suggests that imprint switching on human chromosome 15 may involve alternative SNRPN transcripts.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 1996-10-01 | Nature Genetics |