title: A model system to study genomic imprinting of human genes.
abstract: Somatic-cell hybrids have been shown to maintain the correct epigenetic chromatin states to study developmental globin gene expression as well as gene expression on the active and inactive X chromosomes. This suggests the potential use of somatic-cell hybrids containing either a maternal or a paternal human chromosome as a model system to study known imprinted genes and to identify as-yet-unknown imprinted genes. Testing gene expression by using reverse transcription followed by PCR, we show that functional imprints are maintained at four previously characterized 15q11-q13 loci in hybrids containing a single human chromosome 15 and at two chromosome 11p15 loci in hybrids containing a single chromosome 11. In contrast, three gamma-aminobutyric acid type A receptor subunit genes in 15q12-q13 are nonimprinted. Furthermore, we have found that differential DNA methylation imprints at the SNRPN promoter and at a CpG island in 11p15 are also maintained in somatic-cell hybrids. Somatic-cell hybrids therefore are a valid and powerful system for studying known imprinted genes as well as for rapidly identifying new imprinted genes.
authors.affiliation: Department of Genetics, Case Western Reserve University School of Medicine, University Hospitals of Cleveland, 10900 Euclid Avenue, Cleveland, OH 44106-4955, USA.
authors.forename: J M
authors.initials: JM
authors.lastname: Gabriel
authors.forename: M J
authors.initials: MJ
authors.lastname: Higgins
authors.forename: T C
authors.initials: TC
authors.lastname: Gebuhr
authors.forename: T B
authors.initials: TB
authors.lastname: Shows
authors.forename: S
authors.initials: S
authors.lastname: Saitoh
authors.forename: R D
authors.initials: RD
authors.lastname: Nicholls
mesh_terms: D002880:Chromosomes, Human, Pair 11; D002884:Chromosomes, Human, Pair 15; D019175:DNA Methylation; D015870:Gene Expression; D015894:Genome, Human; D018392:Genomic Imprinting; D006801:Humans; D008957:Models, Genetic; D014960:X Chromosome