doi: 10.1038/ng0693-140.
Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion
Affiliations
- PMID: 8348151
- DOI: 10.1038/ng0693-140
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Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion
Nat Genet.
1993 Jun.
Abstract
We demonstrate here that somatic variation of CGG repeat length is based on a mosaic of cells with different but stable FMR-1 alleles and does not reflect permanent mitotic instability. The length of a particular allele in an individual cell was maintained in progeny cells establishing a clone. The mutation patterns of multiple repeats in the DNA of fetal tissues were identical and did not significantly change during proliferation in vitro. It is proposed that genotype mosaicism and expansion to full mutation are generated post-conceptionally by the same molecular mechanism in a particular window of early development.
Comment in
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Trinucleotide repeat instability: when and where?Nat Genet. 1993 Jun;4(2):107-8. doi: 10.1038/ng0693-107. Nat Genet. 1993. PMID: 8348143 No abstract available.
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