publication . Article . Other literature type . 2001

Demethylation, reactivation, and destabilization of human fragile X full-mutation alleles in mouse embryocarcinoma cells

Doris Wöhrle; Ulrike Salat; Horst Hameister; Walter Vogel; Peter Steinbach;
Open Access English
  • Published: 13 Jul 2001 Journal: The American Journal of Human Genetics, issue 3, pages 504-515 (issn: 00029297, Copyright policy)
  • Publisher: The American Society of Human Genetics. Published by Elsevier Inc.
The major causes of fragile X syndrome are mutational expansion of the CGG repeat in the FMR1 gene, hypermethylation, and transcriptional silencing. Most fragile X embryos develop somatic mosaicism of disease-causing “full” expansions of different lengths. Homogeneity of the mosaic patterns among multiple tissues in the same individual indicates that these previously unstable expansions acquire mitotic stability early in fetal life. Since mitotic stability is found strictly associated with hypermethylation in adult tissues, current theory has fixed the time of instability to developmental stages when fully expanded CGG repeats exist in an unmethylated state. We ...
free text keywords: Genetics(clinical), Genetics, Articles, Mitosis, DNA methylation, X chromosome, Molecular biology, Allele, Embryonic stem cell, Mutation, medicine.disease_cause, medicine, Embryonal Carcinoma Stem Cells, FMR1, Biology
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