Allele specificity of DNA replication timing in the Angelman/Prader-Willi syndrome imprinted chromosomal region.
DNA replication within chromosome 15q11-q13, a region subject to genomic imprinting, was examined by fluorescence in situ hybridization. Asynchronous replication between homologues was observed in cells from normal individuals and in Prader-Willi (PWS) and Angelman syndrome (AS) patients with chromosome 15 deletions but not in PWS patients with maternal uniparental disomy. Opposite patterns of allele-specific replication timing between homologous loci were observed; paternal early/maternal late at D15S63, D15S10 and the gamma-aminobutyric acid receptor beta 3 subunit gene (GABRB3); and maternal early/paternal late at the more distal gamma-aminobutyric acid receptor alpha 5 subunit gene (GABRA5). At the most distal locus examined, D15S12, both patterns of allele-specific replication timing were detected.
Knoll
J H
JH
Division of Genetics, Children's Hospital/Harvard Medical School, Boston, Massachusetts 02115.
Cheng
S D
SD
Lalande
M
M
D000483:Alleles; D017204:Angelman Syndrome / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15; D004261:DNA Replication / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009030:Mosaicism; D010290:Parents; D010375:Pedigree; D011218:Prader-Willi Syndrome / Q000235:genetics*; D011963:Receptors, GABA-A / Q000235:genetics; D018080:Receptors, GABA-B / Q000235:genetics; D013997:Time Factors
D005819:Genetic Markers; D011963:Receptors, GABA-A; D018080:Receptors, GABA-B