Familial mutagen sensitivities: are these the hallmarks of meiotic or mutator mutants in humans?

• Published in: Canadian journal of genetics and cytology Vol. 21; no. 4; p. 435
• Main Author: Hoar, D I
• Format: Journal Article
• Language: English
• Published: Canada 01.12.1979
• Subjects: Ataxia Telangiectasia - genetics; Cells, Cultured; Chromosome Aberrations - genetics; Chromosome Disorders; Humans; Intellectual Disability - genetics; Meiosis; Mitosis; Mutagens
• ISSN: 0008-4093
• DOI: 10.1139/g79-048

Mutagen hypersensitivity (MHS) has been found to be associated with abnormalities in DNA metabolic processes in many prokaryotic and eukaryotic organisms. The study of fibroblasts derived from humans with genetic diseases believed to have altered DNA metabolism, has also revealed patterns of MHS. In this paper results are presented that suggest MHS patterns unrelated to obvious disease can be inherited in a dominant fashion. As these individuals exhibiting MHS patterns have been observed in families with poor reproductive history, new syndromes, or ontogenetic problems (including malignancies) there may be a causal relationship between these events and the MHS. These events which may have a genetic basis appear as maternal or paternal effect mutants as the consequences are observed in reduced reproductive fitness or abnormal progeny. Since these effects are similar to the events precipitated by the meiotic or mutator mutants in Drosophila, it is speculated that the MHS patterns may be the hallmarks of such mutants in man.