title: Studies of the inheritance of human ribosomal DNA variants detected in two-dimensional separations of genomic restriction fragments.
abstract: We have investigated the variation in human ribosomal DNA repeat units as revealed in two-dimensional electrophoretic separates of genomic restriction fragments that were end-labeled at NotI cleavage sites. The transcribed portion of the ribosomal DNA results in approximately 20 labeled fragments visible on each gel as multicopy spots. We have mapped these spots to the sequences responsible for their appearance on the gels, based on their migration positions and direct sequencing of spots, and describe several previously unreported sources of variation. By studying mother/father/child families we gained information on how much of the between-repeats variation is due to differences between and within repeat arrays on homologous chromosomes. Two instances in which a child exhibited more copies of a particular fragment than were present in the parents are described and hypothesized to be due to events such as multiple unequal sister-chromatid exchanges or gene conversions.
authors.affiliation: Department of Pediatrics, University of Michigan Medical School, Ann Arbor 48109, USA. rork@umich.edu
authors.forename: R
authors.initials: R
authors.lastname: Kuick
authors.forename: J
authors.initials: J
authors.lastname: Asakawa
authors.forename: J V
authors.initials: JV
authors.lastname: Neel
authors.forename: M
authors.initials: M
authors.lastname: Kodaira
authors.forename: C
authors.initials: C
authors.lastname: Satoh
authors.forename: D
authors.initials: D
authors.lastname: Thoraval
authors.forename: I L
authors.initials: IL
authors.lastname: Gonzalez
authors.forename: S M
authors.initials: SM
authors.lastname: Hanash
mesh_terms: D001483:Base Sequence; D001665:Binding Sites; D002461:Cell Line, Transformed; D002648:Child; D004275:DNA, Ribosomal; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D015180:Electrophoresis, Gel, Two-Dimensional / Q000379:methods*; D005260:Female; D014644:Genetic Variation; D015894:Genome, Human; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D012091:Repetitive Sequences, Nucleic Acid; D015183:Restriction Mapping
chemical_list: D004275:DNA, Ribosomal; D015252:Deoxyribonucleases, Type II Site-Specific; C032229:GANTC-specific type II deoxyribonucleases; C038565:GCGGCCGC-specific type II deoxyribonucleases