ArticleJournal of medical genetics1998
Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene.
Article in Journal of medical genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 42 citations in OpenAlex.
- Human pluripotent stem cell models of Friedreich's ataxia: innovations, considerations, and future perspectives.Stem cell research & therapy · 2026Review
- The Regulation of the Disease-Causing GeneCells · 2024Review
- Large-scale expansions of Friedreich's ataxia GAA•TTC repeats in an experimental human system: role of DNA replication and prevention by LNA-DNA oligonucleotides and PNA oligomers.Nucleic acids research · 2023Article
- Germline EGFR mutations in lung cancer (Review).Oncology letters · 2023Review
- Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes.American journal of human genetics · 2017Article
- Germline Stem Cell Competition, Mutation Hot Spots, Genetic Disorders, and Older Fathers.Annual review of genomics and human genetics · 2016Review
- Article
- Effects of Friedreich's ataxia GAA repeats on DNA replication in mammalian cells.Nucleic acids research · 2012Article
- The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model.Neurobiology of disease · 2012Article
- Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.Antioxidants & redox signaling · 2010Review
- Progressive GAA.TTC repeat expansion in human cell lines.PLoS genetics · 2009Article
- Understanding what determines the frequency and pattern of human germline mutations.Nature reviews. Genetics · 2009Review
- Comparative genomics and molecular dynamics of DNA repeats in eukaryotes.Microbiology and molecular biology reviews : MMBR · 2008Review
- Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia.Nucleic acids research · 2004Article
- MSH2-dependent germinal CTG repeat expansions are produced continuously in spermatogonia from DM1 transgenic mice.Molecular and cellular biology · 2004Article
- Friedreich ataxia: an overview.Journal of medical genetics · 2000Review
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Friedreich ataxia is usually caused by an expansion of a GAA trinucleotide repeat in intron 1 of the FRDA gene. Occasionally, a fully expanded allele has been found to arise from a premutation of 100 or less triplet repeats. We have examined the sperm DNA of a premutation carrier. This man's leucocyte DNA showed one normal allele and one allele of approximately 100 repeats. His sperm showed an expanded allele in a tight range centering on a size of approximately 320 trinucleotide repeats. His affected son has repeat sizes of 1040 and 540. These data suggest that expansion occurs in two stages, the first during meiosis followed by a second mitotic expansion. We also show that in all informative carrier father to affected child transmissions, with the notable exception of the premutation carrier, the expansion size decreases.
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Registered trials
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