Identification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: further evidence for regional imprinting control

Am J Hum Genet. 2000 Mar;66(3):848-58. doi: 10.1086/302817.


Deletions and other abnormalities of human chromosome 15q11-q13 are associated with two developmental disorders, Prader-Willi syndrome (PWS) and Angelman syndrome (AS). Loss of expression of imprinted, paternally expressed genes has been implicated in PWS. However, the number of imprinted genes that contribute to PWS, and the range over which the imprinting signal acts to silence one copy of the gene in a parent-of-origin-specific manner, are unknown. To identify additional imprinted genes that could contribute to the PWS phenotype and to understand the regional control of imprinting in 15q11-q13, we have constructed an imprinted transcript map of the PWS-AS deletion interval. The imprinting status of 22 expressed sequence tags derived from the radiation-hybrid human transcript maps or physical maps was determined in a reverse transcriptase-PCR assay and correlated with the position of the transcripts on the physical map. Seven new paternally expressed transcripts localize to an approximately 1.5-Mb domain surrounding the SNRPN-associated imprinting center, which already includes four imprinted, paternally expressed genes. All other tested new transcripts in the deletion region were expressed from both alleles. A domain of exclusive paternal expression surrounding the imprinting center suggests strong regional control of the imprinting process. This study provides the means for further investigation of additional genes that cause or modify the phenotypes associated with rearrangements of 15q11-q13.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Angelman Syndrome / genetics*
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 15 / genetics
  • Contig Mapping
  • Expressed Sequence Tags
  • Fathers
  • Female
  • Gene Expression Profiling
  • Gene Expression Regulation / genetics*
  • Gene Library
  • Genomic Imprinting / genetics*
  • Humans
  • Hybrid Cells / metabolism
  • Male
  • Mothers
  • Organ Specificity
  • Phenotype
  • Prader-Willi Syndrome / genetics*
  • RNA, Messenger / genetics*
  • Transcription, Genetic / genetics


  • RNA, Messenger