Tissue-specific and allele-specific replication timing control in the imprinted human Prader-Willi syndrome region

Genes Dev. 1995 Apr 1;9(7):808-20. doi: 10.1101/gad.9.7.808.

Abstract

To examine the relationship between replication timing and differential gene transcription in tissue-specific and imprinted settings we have studied the replication timing properties of the human Prader-Willi syndrome (PWS) region on human chromosome 15q11-13. Interphase fluorescence in situ hybridization with an overlapping series of cosmid clones was used to map a PWS replication timing domain to a 500- to 650-kb region that includes the SNRPN gene. This PWS domain replicates late in lymphocytes but predominantly early in neuroblasts, with replication asynchrony observed in both tissues, and appears to colocalize with a genetically imprinted transcription domain showing prominent expression in the brain. A 5- to 30-kb deletion in the 5' region of SNRPN results in the loss of late replication control of this domain in lymphocytes when the deleted chromosome is inherited paternally. This potential allele-specific replication timing control region also appears to colocalize with a putative imprinting control region that has been shown previously to abolish the expression of three imprinted transcripts in this same region.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Cells, Cultured
  • Chromosomes, Human, Pair 15
  • DNA Replication*
  • Female
  • Genomic Imprinting*
  • Humans
  • Lymphocytes / metabolism
  • Male
  • Neurons / metabolism
  • Prader-Willi Syndrome / genetics*
  • Ribonucleoproteins, Small Nuclear / genetics*
  • Sequence Deletion
  • Transcription, Genetic
  • Tumor Cells, Cultured

Substances

  • Ribonucleoproteins, Small Nuclear