ArticleAmerican journal of human genetics1996
Non-Mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease: the mutant allele is preferentially transmitted in male meiosis.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 2 of them syntheses that pooled it.
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Who cites it
21 citing papers in PubMed, 2 syntheses or guidelines pooled it, 74 citations in OpenAlex.
- A systematic review and critical analysis of the evidence for transmission ratio distortion in humans.Genetics · 2026Pooled it
- Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?European journal of human genetics : EJHG · 2012Pooled it
- Bypassing Mendel's First Law: Transmission Ratio Distortion in Mammals.International journal of molecular sciences · 2023Review
- A model for the dynamics of expanded CAG repeat alleles:Frontiers in genetics · 2023Article
- Genetic Contributors to Intergenerational CAG Repeat Instability in Huntington's Disease Knock-In Mice.Genetics · 2017Article
- Spinocerebellar ataxia type 3 in Israel: phenotype and genotype of a Jew Yemenite subpopulation.Journal of neurology · 2016Article
- Direct Gamete Sequencing Reveals No Evidence for Segregation Distortion in House Mouse Hybrids.PloS one · 2015Article
- Presymptomatic testing for neurogenetic diseases in Brazil: assessing who seeks and who follows through with testing.Journal of genetic counseling · 2012Article
- Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal).Journal of human genetics · 2008Article
- SCA3: neurological features, pathogenesis and animal models.Cerebellum (London, England) · 2008Review
- Analysis of segregation patterns in Machado-Joseph disease pedigrees.Journal of human genetics · 2008Article
- Further evidence of a maternal parent-of-origin effect on chromosome 10 in late-onset Alzheimer's disease.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2006Article
- Meiotic segregation analysis of RB1 alleles in retinoblastoma pedigrees by use of single-sperm typing.American journal of human genetics · 2000Article
- Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation.American journal of human genetics · 1999Article
- Segregation distortion in myotonic dystrophy.Journal of medical genetics · 1998Article
- Paternal transmission and anticipation in schizophrenia.American journal of medical genetics · 1998Article
- FRAXA and FRAXE: evidence against segregation distortion and for an effect of intermediate alleles on learning disability.Proceedings of the National Academy of Sciences of the United States of America · 1998Article
- Segregation distortion of the CTG repeats at the myotonic dystrophy (DM) locus: new data from Brazilian DM families.Journal of medical genetics · 1997Article
- Trinucleotide repeat instability: genetic features and molecular mechanisms.Brain pathology (Zurich, Switzerland) · 1997Review
- Clinical aspects of CAG repeat diseases.Brain pathology (Zurich, Switzerland) · 1997Review
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal dominant dentatorubral-pallidoluysian atrophy (DRPLA) and Machado-Joseph disease (MJD) are neurodegenerative disorders caused by CAG trinucleotide repeat expansions. An inverse correlation of age at onset with the length of the expanded CAG trinucleotide repeats has been demonstrated, and the intergenerational instability of the length of the CAG trinucleotide repeats, which is more prominent in paternal than in maternal transmissions, has been shown to underlie the basic mechanisms of anticipation in DRPLA and MJD. Our previous observations on DRPLA and MJD pedigrees, as well as a review of the literature, have suggested that the numbers of affected offspring exceed those of unaffected offspring, which is difficult to explain by the Mendelian principle of random segregation of alleles. In the present study, we analyzed the segregation patterns in 211 transmissions in 24 DRPLA pedigrees and 80 transmissions in 7 MJD pedigrees, with the diagnoses confirmed by molecular testing. Significant distortions in favor of transmission of the mutant alleles were found in male meiosis, where the mutant alleles were transmitted to 62% of all offspring in DRPLA (chi2 = 7.69; P<.01) and 73% in MJD (chi2 = 6.82; P<.01). The results were consistent with meiotic drive in DRPLA and MJD. Since more prominent meiotic instability of the length of the CAG trinucleotide repeats is observed in male meiosis than in female meiosis and meiotic drive is observed only in male meiosis, these results raise the possibility that a common molecular mechanism underlies the meiotic drive and the meiotic instability in male meiosis.
Indexed as
Identifiers
8644735PMC1914673W1607507751What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.