ArticleAmerican journal of human genetics2002
Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 64 citations in OpenAlex.
- Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors.Journal of genetic counseling · 2005Guideline
- Mechanisms of theInternational journal of molecular sciences · 2022Review
- Review
- The molecular mechanisms that underlie fragile X-associated premature ovarian insufficiency: is it RNA or protein based?Molecular human reproduction · 2020Review
- On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability.The Journal of biological chemistry · 2020Review
- Reversion to Normal ofGenes · 2020Article
- 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
- Timing of Expansion of Fragile X Premutation Alleles During Intergenerational Transmission in a Mouse Model of the Fragile X-Related Disorders.Frontiers in genetics · 2018Article
- Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon inProceedings of the National Academy of Sciences of the United States of America · 2017Article
- 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
- Understanding decreased fertility in women carriers of the FMR1 premutation: a possible mechanism for Fragile X-Associated Primary Ovarian Insufficiency (FXPOI).Reproductive health · 2014Article
- The role of AGG interruptions in fragile X repeat expansions: a twenty-year perspective.Frontiers in genetics · 2014Review
- FMR1 CGG expansions: prevalence and sex ratios.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2013Article
- Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles.American journal of medical genetics. Part A · 2013Article
- Identification of expanded alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) study.Journal of autism and developmental disorders · 2013Article
- Unstable mutations in the FMR1 gene and the phenotypes.Advances in experimental medicine and biology · 2012Review
- The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge.The Clinical biochemist. Reviews · 2011Article
- Mechanisms of trinucleotide repeat instability during human development.Nature reviews. Genetics · 2010Review
- ATM and ATR protect the genome against two different types of tandem repeat instability in Fragile X premutation mice.Nucleic acids research · 2009Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Fragile X syndrome, a form of X-linked mental retardation, results from the hyperexpansion of a CGG trinucleotide repeat located in the 5' untranslated region of the fragile X mental retardation (FMR1) gene. Relatively little is known about the initial mutation that causes a stable allele to become unstable and, eventually, to expand to the full mutation. In the present study, we have examined 1,452 parent-child transmissions of alleles of common (< or =39 repeats) or intermediate (40-59 repeats) sizes to study the initial mutation events. Of these, 201 have been sequenced and haplotyped. Using logistic regression analysis, we found that parental origin of transmission, repeat size (for unsequenced alleles), and number of the 3' CGGs (for sequenced alleles) were significant risk factors for repeat instability. Interestingly, transmission of the repeat through males was less stable than that through females, at the common- and intermediate-size level. This pattern differs from that seen for premutation-size alleles: paternally transmitted alleles are far more stable than maternally transmitted alleles. This difference that depends on repeat size suggests either a different mutational mechanism of instability or an increase in selection against sperm as their repeat size increases.
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Registered trials
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