A de novo pathological point mutation at the 21-hydroxylase locus: implications for gene conversion in the human genome.
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Collier S, Tassabehji M, Sinnott P, Strachan T
A de novo pathological point mutation at the 21-hydroxylase locus: implications for gene conversion in the human genome.
Nat Genet. 1993 Mar;3(3):260-5.
- PubMed ID
- 8485582 [ View in PubMed]
- 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.