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Related Experiment Videos

Mapping by gene dosage, using aneuploid human lymphoid cell lines

M Soos, M Shade, H Bell

    Annals of Human Genetics
    |May 1, 1981
    PubMed
    Summary
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    Human cell lines evolving in vitro provide a unique model for gene mapping. Researchers found that specific chromosome changes in these cell lines correlate with gene activity, supporting existing human gene mapping data.

    Area of Science:

    • Human genetics
    • Cell biology
    • Molecular biology

    Background:

    • Human lymphoblastoid cell lines (LCLs) undergo clonal evolution in vitro.
    • This evolution results in distinct chromosomal aberrations within cell lines of the same genetic origin.
    • These chromosomally marked cell lines offer a unique system for comparative studies.

    Purpose of the Study:

    • To investigate the utility of chromosomally marked LCLs for gene mapping.
    • To correlate specific chromosomal aberrations with the expression levels of targeted genes.
    • To validate and support existing data on the regional assignment of gene loci.

    Main Methods:

    • Utilized selected pairs of genetically matched LCLs differing in copy number of specific chromosome arms (8p and 12p).

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  • Assessed the levels of Glucose-6-phosphate synthase, liver (GSR) and Lactate dehydrogenase B (LDH B) in these cell lines.
  • Correlated observed gene expression levels with specific chromosomal aberrations.

    • Main Results:

    • Demonstrated a correlation between copy number variations on chromosome 8p and GSR levels.
    • Showed a correlation between copy number variations on chromosome 12p and LDH B levels.
    • These findings support the regional assignment of the GSR and LDH B gene loci.

    Conclusions:

    • The use of evolving LCLs with defined chromosomal differences is a valuable method for gene mapping.
    • This approach complements established techniques in human gene mapping.
    • Confirms and refines the chromosomal locations of specific human genes.