Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion.

doi:10.1038/ng0693-140

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Article

Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion.

Nature genetics - 1 Jun 1993

Wöhrle D, Hennig I, Vogel W, Steinbach P

Abstract excerpt

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. T...

Topics

Alleles
Cell Differentiation
Cell Division
Clone Cells
Embryonic and Fetal Development
Female
Fetus
Fibroblasts
Fragile X Mental Retardation Protein
Fragile X Syndrome
Gene Amplification
Humans
Male
Mitosis
Mosaicism
Nerve Tissue Proteins
Placenta
RNA-Binding Proteins

Source

Open in PubMed

Identifiers

PMID: 8348151
DOI: 10.1038/ng0693-140

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8348151-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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