ArticleGenetics2012
Evaluating the evidence for transmission distortion in human pedigrees.
Article in Genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.
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Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 49 citations in OpenAlex.
- A systematic review and critical analysis of the evidence for transmission ratio distortion in humans.Genetics · 2026Pooled it
- Signatures of sex ratio distortion in humans.bioRxiv : the preprint server for biology · 2026Article
- Sperm subpopulations differing in mitochondrial abundance show divergent nuclear allele frequencies.PloS one · 2026Article
- Inferring the mode and strength of ongoing selection.Genome research · 2023Article
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- Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4.Human genetics · 2022Article
- Meiotic drive in house mice: mechanisms, consequences, and insights for human biology.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2022Review
- Whole-genome resequencing reveals loci with allelic transmission ratio distortion in FMolecular genetics and genomics : MGG · 2021Article
- Ancestral haplotype reconstruction in endogamous populations using identity-by-descent.PLoS computational biology · 2021Article
- A test for meiotic drive in hybrids between Australian and Timor zebra finches.Ecology and evolution · 2020Article
- Article
- Haplotypes spanning centromeric regions reveal persistence of large blocks of archaic DNA.eLife · 2019Article
- Fertility Costs of Meiotic Drivers.Current biology : CB · 2019Review
- Recombination rate plasticity: revealing mechanisms by design.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2017Review
- Identifying genetic variants that affect viability in large cohorts.PLoS biology · 2017Article
- Analysis of case-parent trios for imprinting effect using a loglinear model with adjustment for sex-of-parent-specific transmission ratio distortion.Human genetics · 2017Article
- Regulatory Variants Modulate Protein Kinase C α (PRKCA) Gene Expression in Human Heart.Pharmaceutical research · 2017Article
- Bio-collections in autism research.Molecular autism · 2017Review
- Artifactual mutations resulting from DNA lesions limit detection levels in ultrasensitive sequencing applications.DNA research : an international journal for rapid publication of reports on genes and genomes · 2016Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
Children of a heterozygous parent are expected to carry either allele with equal probability. Exceptions can occur, however, due to meiotic drive, competition among gametes, or viability selection, which we collectively term "transmission distortion" (TD). Although there are several well-characterized examples of these phenomena, their existence in humans remains unknown. We therefore performed a genome-wide scan for TD by applying the transmission disequilibrium test (TDT) genome-wide to three large sets of human pedigrees of European descent: the Framingham Heart Study (FHS), a founder population of European origin (HUTT), and a subset of the Autism Genetic Resource Exchange (AGRE). Genotyping error is an important confounder in this type of analysis. In FHS and HUTT, despite extensive quality control, we did not find sufficient evidence to exclude genotyping error in the strongest signals. In AGRE, however, many signals extended across multiple SNPs, a pattern highly unlikely to arise from genotyping error. We identified several candidate regions in this data set, notably a locus in 10q26.13 displaying a genome-wide significant TDT in combined female and male transmissions and a signature of recent positive selection, as well as a paternal TD signal in 6p21.1, the same region in which a significant TD signal was previously observed in 30 European males. Neither region replicated in FHS, however, and the paternal signal was not visible in sperm competition assays or as allelic imbalance in sperm. In maternal transmissions, we detected no strong signals near centromeres or telomeres, the regions predicted to be most susceptible to female-specific meiotic drive, but we found a significant enrichment of top signals among genes involved in cell junctions. These results illustrate both the potential benefits and the challenges of using the TDT to study transmission distortion and provide candidates for investigation in future studies.
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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.