ArticleAmerican journal of human genetics1995
Expansion of the CGG repeat in fragile X in the FMR1 gene depends on the sex of the offspring.
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 11 papers.
What it found
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Who cites it
11 citing papers in PubMed.
- Relationships between motor scores and cognitive functioning in FMR1 female premutation X carriers indicate early involvement of cerebello-cerebral pathways.Cerebellum & ataxias · 2021Article
- Delineating the Relationships Between Motor, Cognitive-Executive and Psychiatric Symptoms in FemaleFrontiers in psychiatry · 2021Article
- A genetic study of the FMR1 gene in a Sardinian multiple sclerosis population.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2015Article
- 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
- The pathophysiology of fragile X (and what it teaches us about synapses).Annual review of neuroscience · 2012Review
- Unstable mutations in the FMR1 gene and the phenotypes.Advances in experimental medicine and biology · 2012Review
- Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles.American journal of human genetics · 2003Article
- Genetic linkage of IgA deficiency to the major histocompatibility complex: evidence for allele segregation distortion, parent-of-origin penetrance differences, and the role of anti-IgA antibodies in disease predisposition.American journal of human genetics · 1999Article
- Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat.American journal of human genetics · 1997Article
- Fragile X syndrome. Molecular and clinical insights and treatment issues.The Western journal of medicine · 1997Review
- Familial transmission of the FMR1 CGG repeat.American journal of human genetics · 1996Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Analysis of 139 mother-to-offspring transmissions of fragile X CGG triplet repeats revealed that the repeat expansion is enhanced in mother-to-son transmissions compared with mother-to-daughter transmissions. Evidence has been based on analysis of mother-offspring differences in the size of repeat (in kb), as well as on comparisons between proportions of male and female offspring with premutations, and full mutations, inherited from mothers carrying a premutation. Mean difference in the repeat size from mother-son transmissions was 1.45 kb, compared with mother-daughter transmissions of 0.76 kb. The difference is due primarily to a greater proportion of male than female offspring with full mutation from the premutation mothers and also to a higher frequency of reduction in repeat size from mothers to daughters than from mothers to sons. Our findings suggest the possibility of an interaction of the normal X homologue in a female zygote with the FMR1 sequence on the fragile X during replication to account for the lower level of expansion in mother-to-daughter transmissions relative to mother-to-son transmissions.
Indexed as
Identifiers
8533771PMC1801407What OpenQuestion holds
Registered trials
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