Studies of the Inheritance of Human Ribosomal DNA Variants Detected in Two-Dimensional Separations of Genomic Restriction Fragments

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 vi...

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Bibliographic Details
Published in:Genetics (Austin) 1996-09, Vol.144 (1), p.307-316
Main Authors: Kuick, R, Asakawa, J. I, Neel, J. V, Kodaira, M, Satoh, C, Thoraval, D, Gonzalez, I. L, Hanash, S. M
Format: Article
Language:English
Subjects:
Base Sequence
Binding Sites
Cell Line, Transformed
Child
Deoxyribonucleases, Type II Site-Specific - metabolism
Deoxyribonucleic acid
DNA
DNA, Ribosomal
Electrophoresis, Gel, Two-Dimensional - methods
Female
Genes
Genetic Variation
Genetics
Genome, Human
Humans
Investigations
Male
Molecular Sequence Data
Repetitive Sequences, Nucleic Acid
Restriction Mapping
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Summary: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.
ISSN:0016-6731
1943-2631
1943-2631
DOI:10.1093/genetics/144.1.307