ArticleAmerican journal of human genetics1995
Fragile X gene instability: anchoring AGGs and linked microsatellites.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed.
- Fragile sites, chromosomal lesions, tandem repeats, and disease.Frontiers in genetics · 2022Review
- On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability.The Journal of biological chemistry · 2020Review
- Dynamics of strand slippage in DNA hairpins formed by CAG repeats: roles of sequence parity and trinucleotide interrupts.Nucleic acids research · 2020Article
- Review
- Review
- Unique AGG Interruption in the CGG Repeats of the FMR1 Gene Exclusively Found in Asians Linked to a Specific SNP Haplotype.Genetics research international · 2016Article
- Fragile X syndrome screening in Chinese children with unknown intellectual developmental disorder.BMC pediatrics · 2015Article
- Distribution of fragile X mental retardation 1 CGG repeat and flanking haplotypes in a large Chinese population.Molecular genetics & genomic medicine · 2015Article
- Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI).Journal of neurodevelopmental disorders · 2014Review
- AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission.Journal of neurodevelopmental disorders · 2014Article
- AGG/CCT interruptions affect nucleosome formation and positioning of healthy-length CGG/CCG triplet repeats.BMC biochemistry · 2013Article
- Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms.Acta neuropathologica · 2013Review
- Fragile X syndrome: the FMR1 CGG repeat distribution among world populations.Annals of human genetics · 2012Review
- Unstable mutations in the FMR1 gene and the phenotypes.Advances in experimental medicine and biology · 2012Review
- An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis.The Journal of molecular diagnostics : JMD · 2010Article
- Genetic diversity of the fragile X syndrome gene (FMR1) in a large Sub-Saharan West African population.Annals of human genetics · 2010Article
- Translation of the FMR1 mRNA is not influenced by AGG interruptions.Nucleic acids research · 2009Article
- Expansion of an FMR1 grey-zone allele to a full mutation in two generations.The Journal of molecular diagnostics : JMD · 2009Article
- The AGG interruption pattern within the CGG repeat of the FMR1 gene among Taiwanese population.Journal of genetics · 2008Article
- The fragile-X premutation: a maturing perspective.American journal of human genetics · 2004Review
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4 authors.
Funding
Abstract
Interspersed AGGs within the FMR1 gene CGG repeat region may anchor the sequence and prevent slippage during replication. In order to detect the AGG position variations, we developed a method employing partial MnlI restriction analysis and analyzed X chromosomes from 187 males, including 133 normal controls (117 with 20-34 and 16 with 35-52 repeats), plus 54 fragile X premutations with 56-180 repeats. Among controls, the interspersed AGG positions were highly polymorphic, with a heterozygosity of 91%. Among the control samples, 1.5% had no AGG positions, 25% had one, 71% had two, and 3% had three. Among the fragile X premutation samples, 63% had no AGG, while 37% had only one AGG. Analysis of premutation samples within fragile X families showed that variation occurred only within the 3' end of the region. Thus, the instability was polar. Controls with > or = 15 pure CGG repeats were associated with the longest alleles of two nearby microsatellites, FRAXAC1 with 20-21 repeats and DXS548 with 202-206 bp and with increased microsatellite heterozygosity. The association of long pure CGG regions, as with fragile X chromosomes, with the longer and more heterozygous microsatellite alleles suggests they may be related mechanistically. Further, our results do not support a recent suggestion that the frequency of fragile X alleles may be increasing. Finally, analysis of a set of nonhuman primate samples showed that long pure CGG tracks are variable in size and are located within the 3' region, which suggests that polar instability within FMR1 is evolutionarily quite old.
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Registered trials
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