RECORD NO.: 95220697
AUTHOR: Gunaratne PH; Nakao M; Ledbetter DH; Sutcliffe JS; Chinault
AC
ADDRESS: Department of Molecular and Human Genetics, Baylor College
of Medicine, Houston, Texas 77030, USA.
TITLE: Tissue-specific and allele-specific replication timing
control in the imprinted human Prader-Willi syndrome region.
SOURCE: Genes Dev (FN3), 1995 Apr 1; 9 (7): 808-20
LANGUAGE: English
COUNTRY PUB.: UNITED STATES
ANNOUNCEMENT: 9507
PUB. TYPE: JOURNAL ARTICLE
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.
MESH HEADINGS: *DNA Replication; *Genomic Imprinting; Prader-Willi
Syndrome--genetics (*GE); Ribonucleoproteins, Small Nuclear--
genetics (*GE); Cells, Cultured; Chromosomes, Human, Pair
15; Lymphocytes--metabolism (ME); Neurons--metabolism (ME);
Sequence Deletion; Transcription, Genetic; Tumor Cells,
Cultured; Female; Human; Male; Support, Non-U.S. Gov't;
Support, U.S. Gov't, P.H.S.
GENE SYMBOL: SNRNP
CHEMICAL SUBS: 0 (Ribonucleoproteins, Small Nuclear)
GRANT NO.: 8D20619
STANDARD NO.: 0890-9369
DATES: Entered 950509