ArticleJournal of human genetics2008
Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal).
Article in Journal of human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- A systematic review and critical analysis of the evidence for transmission ratio distortion in humans.Genetics · 2026Pooled it
- Blood DDIT4 and TRIM13 Transcript Levels Mark the Early Stages of Machado-Joseph Disease.Annals of neurology · 2025Article
- Global DNA methylation is not elevated in blood samples from Machado-Joseph disease mutation carriers.Epigenetics · 2024Article
- Age-dependent somatic expansion of the ATXN3 CAG repeat in the blood and buccal swab DNA of individuals with spinocerebellar ataxia type 3/Machado-Joseph disease.Human genetics · 2024Article
- Review
- Article
- The Homogeneous Azorean Machado-Joseph Disease Cohort: Characterization and Contributions to Advances in Research.Biomedicines · 2023Review
- Bypassing Mendel's First Law: Transmission Ratio Distortion in Mammals.International journal of molecular sciences · 2023Review
- Accumulation of Mitochondrial DNA Common Deletion Since The Preataxic Stage of Machado-Joseph Disease.Molecular neurobiology · 2019Article
- Promoter Variant Alters Expression of the Autophagic BECN1 Gene: Implications for Clinical Manifestations of Machado-Joseph Disease.Cerebellum (London, England) · 2017Article
- Promoter Variation and Expression Levels of Inflammatory Genes IL1A, IL1B, IL6 and TNF in Blood of Spinocerebellar Ataxia Type 3 (SCA3) Patients.Neuromolecular medicine · 2017Article
- Triplet Repeat Primed PCR (TP-PCR) in Molecular Diagnostic Testing for Spinocerebellar Ataxia Type 3 (SCA3).Molecular diagnosis & therapy · 2016Article
- Analysis of Case-Parent Trios Using a Loglinear Model with Adjustment for Transmission Ratio Distortion.Frontiers in genetics · 2016Article
- Transmission ratio distortion: review of concept and implications for genetic association studies.Human genetics · 2013Review
- Sequence analysis of 5' regulatory regions of the Machado-Joseph disease gene (ATXN3).Cerebellum (London, England) · 2012Article
- Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report.BMC neurology · 2011Article
- Machado-Joseph Disease: from first descriptions to new perspectives.Orphanet journal of rare diseases · 2011Review
- The (CAG)n tract of Machado-Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls.European journal of human genetics : EJHG · 2010Article
- Analysis of segregation patterns in Machado-Joseph disease pedigrees.Journal of human genetics · 2008Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Machado-Joseph disease (MJD) is caused by an expansion of a triplet repeat with a CAG motif at the ATXN3 gene. The putative segregation ratio distortion (SRD) of alleles can play an important role in the non-Mendelian behaviour of triplet repeat loci. To study the stability and infer the segregation patterns of wild-type MJD alleles, the size of the (CAG)(n) tract was analysed in 102 normal sibships, representing 428 meioses. No mutational events were detected during the transmission of alleles. Segregation analysis showed that the smaller alleles were preferentially transmitted (56.9%). Considering maternal meioses alone, such preference was still detected (55.7%) but without statistical significance. A positive correlation was observed for the difference in length between the two alleles constituting the transmitters' genotype (D) and the frequency of transmission of the smaller alleles. The results suggest that small D values are not enough to modify the probability of allele transmission. When transmissions involving genotypes with D <or= 2 were excluded, SRD in favour of the smaller allele became significant for both maternal and paternal transmissions. Therefore, the genotypic composition of the transmitters in a sample to be analysed should influence the ability to detect SRD, acting as a confounding factor.
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Registered trials
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