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A de novo pathological point mutation at the 21–hydroxylase locus: implications for gene conversion in the human genome

Nature Genetics volume 3, pages 260–265 (1993)Cite this article

A Correction to this article was published on 01 May 1993

Abstract

More than two hundred characterized 21–hydroxylase deficiency alleles appear to result exclusively from sequence exchanges involving the 21–hydroxylase gene (CYP21B) and a closely related pseudogene (CYP21A). Gene conversion–like events have also been reported in many other human gene clusters, but in the absence of a de novo mutation, the alternative explanation of a multiple recombination is possible. We now report a de novo pathological mutation at the 21–hydroxylase locus. DNA sequence analysis suggests that the mutation arose by a microconversion event involving exchange of up to 390 nucleotides between maternal CYP21A and CYP21B genes. This putative de novo gene conversion event appears to be the first characterized in humans.

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Author notes

  1. Simon Collier

    Present address: Department of Genetics, University of Cambridge, Downing Street, Cambridge, CB2 3EH, UK

  2. Tom Strachan

    Present address: Division of Human Genetics, University of Newcastle upon Tyne, Molecular Genetics Unit, Ridley Building, Ground Floor, Claremont Place, Newcastle upon Tyne, NE1 7RU, UK

Authors and Affiliations

  1. University Department of Medical Genetics, St. Mary's Hospital, Hathersage Road, Manchester, M13 0JH, UK

    Simon Collier, Mayada Tassabehji & Tom Strachan

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Collier, S., Tassabehji, M. & Strachan, T. A de novo pathological point mutation at the 21–hydroxylase locus: implications for gene conversion in the human genome. Nat Genet 3, 260–265 (1993). https://doi.org/10.1038/ng0393-260

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