ArticleAmerican journal of human genetics1999
FMR1 CGG-repeat instability in single sperm and lymphocytes of fragile-X premutation males.
Article in American journal of human genetics, 1999. 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, 35 citations in OpenAlex.
- Review
- Characterization ofFrontiers in genetics · 2021Article
- Modifiers of Somatic Repeat Instability in Mouse Models of Friedreich Ataxia and the Fragile X-Related Disorders: Implications for the Mechanism of Somatic Expansion in Huntington's Disease.Journal of Huntington's disease · 2021Review
- Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles.American journal of medical genetics. Part A · 2019Article
- Repeat Instability in the Fragile X-Related Disorders: Lessons from a Mouse Model.Brain sciences · 2019Article
- Of Men and Mice: Modeling the Fragile X Syndrome.Frontiers in molecular neuroscience · 2018Article
- FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of theFrontiers in genetics · 2018Article
- Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Article
- CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles.Journal of medical genetics · 2014Article
- The role of AGG interruptions in fragile X repeat expansions: a twenty-year perspective.Frontiers in genetics · 2014Review
- Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles.American journal of medical genetics. Part A · 2013Article
- MSH2-dependent germinal CTG repeat expansions are produced continuously in spermatogonia from DM1 transgenic mice.Molecular and cellular biology · 2004Article
- CpG methylation modifies the genetic stability of cloned repeat sequences.Genome research · 2002Article
- Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range.American journal of human genetics · 2002Article
- Increase of FMRP expression, raised levels of FMR1 mRNA, and clonal selection in proliferating cells with unmethylated fragile X repeat expansions: a clue to the sex bias in the transmission of full mutations?Journal of medical genetics · 2000Article
- FMR1 and the fragile X syndrome: human genome epidemiology review.Genetics in medicine : official journal of the American College of Medical GeneticsReview
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To determine the meiotic instability of the CGG-triplet repeat in the fragile-X gene, FMR1, we examined the size of the repeat in single sperm from four premutation males. The males had CGG-repeat sizes of 68, 75, 78, and 100, as determined in peripheral blood samples. All samples showed a broad range of variations, with expansions more common than contractions. Examination of single lymphocytes indicated that somatic cells were relatively more stable than sperm. Surprisingly, the repeats in sperm from the 75- and 78-repeat males had very different size ranges and distribution patterns despite the similarity of the repeat size and AGG interruption in their somatic cells. These results suggest that cis or trans factors may have a role in male germline repeat instability.
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