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

Gunaratne PH, Nakao M, Ledbetter DH, Sutcliffe JS, Chinault AC
Genes Dev. 1995 9 (7): 808-20

PMID: 7705658 · DOI:10.1101/gad.9.7.808

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.

MeSH Terms (14)

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

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