Despite the recent completion of the human genome project, the mapping of disease-related chromosomal translocation breakpoints and genes has remained laborious. Here, we describe a novel and rapid procedure to map such translocation breakpoints using flow-sorted chromosomes in combination with array-based comparative genomic hybridization (arrayCGH). To test the feasibility of this approach, we used a t(12;15)(q13;q25)-positive cell line with known breakpoint positions as a model. The derivative 12 chromosomes were flow-sorted, labeled, and hybridized to a genome-wide array containing 3648 well-characterized human genomic clones. The exact locations of the breakpoints on both chromosome 12 and 15 could be determined in a single hybridization experiment. In addition, we have tested the minimal amount of material necessary to perform these experiments and show that it is possible to obtain highly reliable profiles using as little as 10,000 flow-sorted chromosomes.
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http://dx.doi.org/10.2144/03355dd03 | DOI Listing |
bioRxiv
September 2024
Stowers Institute for Medical Research, Kansas City, MO, USA.
Ribosomal RNA (rRNA) genes exist in multiple copies arranged in tandem arrays known as ribosomal DNA (rDNA). The total number of gene copies is variable, and the mechanisms buffering this copy number variation remain unresolved. We surveyed the number, distribution, and activity of rDNA arrays at the level of individual chromosomes across multiple human and primate genomes.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
September 2024
School of Biotechnology and Biomolecular Sciences, Faculty of Science, The University of New South Wales, Sydney, NSW 2052, Australia.
Diabetologia
October 2024
Center for Diabetes & Metabolic Diseases, Indiana University School of Medicine, Indianapolis, IN, USA.
Sci Rep
November 2023
Department of Biological Resources, Centre for Agricultural Research, Eötvös Lóránd Research Network, Martonvásár, 2462, Hungary.
The annual goatgrass, Aegilops biuncialis is a rich source of genes with considerable agronomic value. This genetic potential can be exploited for wheat improvement through interspecific hybridization to increase stress resistance, grain quality and adaptability. However, the low throughput of cytogenetic selection hampers the development of alien introgressions.
View Article and Find Full Text PDFSci Adv
November 2023
Howard Hughes Medical Institute, Indiana University, Bloomington, IN, USA.
has two ribosomal RNA (rRNA) gene loci, nucleolus organizer regions and , whose complete sequences are missing in current genome assemblies. Ultralong DNA sequences assembled using an unconventional approach yielded ~5.5- and 3.
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