Replication asynchrony between homologs 15q11.2: cytogenetic evidence for genomic imprinting.
Replication kinetics of the Prader-Willi syndrome critical region (15q11.2) was investigated in seven normal healthy adult females using RBG replication bands. Replication asynchrony between homologs 15q11.2 was identified consistently in about 40% of cells in all individuals. It was limited to the stages in which Xp22, Xp11, Xq13 and Xq24/26 were visible in the late-replicating X chromosome. This asynchrony suggested that replication timing overlapped between 15q11.2 and the early replicating R-bands of the late X chromosome in some cells, and that the difference in replication timing between homologs was probably related to genomic imprinting; the latter has been suggested as a pathogenetic basis of Prader-Willi syndrome. As a result of an analysis of the proportions of asynchronous and synchronous cells in each replication stage, two types of cells were deduced providing 1:1 methylation mosaicism of genomic imprinting was assumed. The first type was composed of cells with normal replication in one homolog and delayed replication in the other. The second type was composed of cells with normal replication in both homologs. Our results provide cytogenetic evidence of methylation mosaicism for mammalian genomic imprinting.
Izumikawa
Y
Y
Department of Pediatrics, University of the Ryukyus School of Medicine, Okinawa, Japan.
Naritomi
K
K
Hirayama
K
K
D002453:Cell Cycle; D002871:Chromosome Banding; D002884:Chromosomes, Human, Pair 15; D004261:DNA Replication / Q000235:genetics; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007621:Karyotyping; D011218:Prader-Willi Syndrome / Q000235:genetics*; D014960:X Chromosome
D005819:Genetic Markers