Mitotic stability of fragile X mutations in differentiated cells indicates early post–conceptional trinucleotide repeat expansion
- 1 June 1993
- journal article
- Published by Springer Nature in Nature Genetics
- Vol. 4 (2) , 140-142
- https://doi.org/10.1038/ng0693-140
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.Keywords
This publication has 21 references indexed in Scilit:
- Segregation of the fragile X mutation from an affected male to his normal daughterHuman Molecular Genetics, 1992
- Fragile X syndrome: The molecular picture comes into focusTrends in Genetics, 1992
- Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in developmentAmerican Journal of Medical Genetics, 1992
- Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradoxCell, 1991
- Absence of expression of the FMR-1 gene in fragile X syndromeCell, 1991
- Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndromePublished by Elsevier ,1991
- Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndromeCell, 1991
- Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresisNature, 1991
- An embryogenic model to explain cytogenetic inconsistencies observed in chorionic villus versus fetal tissuePrenatal Diagnosis, 1988
- Increased sister chromatid exchange frequency at Xq27 site in affected fragile X malesAmerican Journal of Medical Genetics, 1987