Complex recombination events at the hypermutable minisatellite CEB1 (D2S90)

作者: J. Buard , G. Vergnaud

DOI: 10.1002/J.1460-2075.1994.TB06619.X

关键词: Germline mutationBiologyLocus (genetics)MinisatelliteGermlineRecombinationAlleleSister chromatidsGeneticsMutation rate

摘要: Some minisatellite structures are the site of high rates DNA recombination in non-pathological situations, with an excess motif insertion events and a locus-dependent sex-specific mutation bias. We previously reported cloning hypermutable locus CEB1 (D2S90), remarkable for its 13% rate male germline (compared to approximately 0.4% female). have sought analyse mechanisms underlying addition or deletion motifs at this using variant repeat mapping technique. This is possible precision due extreme sequence polymorphism seen between different motifs. No crossing-over event was observed among 38 informative neomutations. Four 19 mutant alleles interallelic events, others intra-allelic. Overall, mutations spread along alleles, although subset shows clustering towards analysed end. The apparently complex can all be interpreted as succession elementary duplications-deletions inter- well intra-chromosomal origin, suggesting model which sister chromatid conversion-like exchanges involved these processes.

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