In vivo somatic mutations in human lymphocytes frequently result from major gene alterations

D. R. Turner, A. A. Morley, Marina Haliandros, R. Kutlaca, Barbara J. Sanderson

    Research output: Contribution to journalArticle

    112 Citations (Scopus)

    Abstract

    Somatic mutations, either spontaneous or produced by identifiable mutagens, are thought to be important in the aetiology of cancer and in the ageing process. The study of somatic mutations in human cells in vivo has recently been made possible by the development of techniques for enumeration and clonal expansion of lymphocytes mutated at the chromosome X-linked hypoxanthine phosphoribosyl transferase (HPRT) locus1,2. We have studied the molecular basis of in vivo hprt mutations in human lymphocytes and report here that a surprisngly high proportion (57%) involve substantial gene alterations which are not evident cytogenetically. These major gene alterations include deletions, exon amplifications and novel, sometimes amplified, bands on Southern analysis. Such changes emphasize the fluid nature of information in DNA and may be indicative of general mechanisms by which functional gene loss is involved in the aetiology of cancer and the homeostatic failure of ageing.

    Original languageEnglish
    Pages (from-to)343-345
    Number of pages3
    JournalNature
    Volume315
    Issue number6017
    DOIs
    Publication statusPublished - 23 May 1985

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