ArticleAmerican journal of human genetics2004
Evidence for extensive transmission distortion in the human genome.
Article in American journal of human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00006512 (Characterizing a 5P-Linked BHR Susceptibility Locus), which is not on this map. Cited by 48 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Characterizing a 5P-Linked BHR Susceptibility Locus
Who cites it
48 citing papers in PubMed, 1 synthesis or guideline pooled it, 123 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
- Unravelling transmission ratio distortion across the bovine genome: identification of candidate regions for reproduction defects.BMC genomics · 2023Article
- Bypassing Mendel's First Law: Transmission Ratio Distortion in Mammals.International journal of molecular sciences · 2023Review
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- Whole-genome resequencing reveals loci with allelic transmission ratio distortion in FMolecular genetics and genomics : MGG · 2021Article
- Evaluation of Gene-Based Family-Based Methods to Detect Novel Genes Associated With Familial Late Onset Alzheimer Disease.Frontiers in neuroscience · 2018Article
- Recombination rate plasticity: revealing mechanisms by design.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2017Review
- 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
- Analysis of Case-Parent Trios Using a Loglinear Model with Adjustment for Transmission Ratio Distortion.Frontiers in genetics · 2016Article
- Estimation of linkage disequilibrium and interspecific gene flow in Ficedula flycatchers by a newly developed 50k single-nucleotide polymorphism array.Molecular ecology resources · 2014Article
- Genotype Correlation Analysis Reveals Pathway-Based Functional Disequilibrium and Potential Epistasis in the Human Interactome.Applications of Evolutionary Computation : 17th European Conference, EvoApplications 2014, Granada, Spain, April 23-25, 2014 : revised selected papers. EvoApplications (Conference) (17th : 2014 : Granada, Spain) · 2014Article
- Transmission ratio distortion: review of concept and implications for genetic association studies.Human genetics · 2013Review
- Identification of two maternal transmission ratio distortion loci in pedigrees of the Framingham heart study.Scientific reports · 2013Article
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- Article
- Article
- The emergence of human-evolutionary medical genomics.Evolutionary applications · 2011Article
- Detection of intergenerational genetic effects with application to HLA-B matching as a risk factor for schizophrenia.Human heredity · 2011Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
Abstract
It is a basic principle of genetics that each chromosome is transmitted from parent to offspring with a probability that is given by Mendel's laws. However, several known biological processes lead to skewed transmission probabilities among surviving offspring and, therefore, to excess genetic sharing among relatives. Examples include in utero selection against deleterious mutations, meiotic drive, and maternal-fetal incompatibility. Although these processes affect our basic understanding of inheritance, little is known about their overall impact in humans or other mammals. In this study, we examined genome screen data from 148 nuclear families, collected without reference to phenotype, to look for departures from Mendelian transmission proportions. Using single-point and multipoint linkage analysis, we detected a modest but significant genomewide shift towards excess genetic sharing among siblings (average sharing of 50.43% for the autosomes; P=.009). Our calculations indicate that many loci with skewed transmission are required to produce a genomewide shift of this magnitude. Since transmission distortion loci are subject to strong selection, this raises interesting questions about the evolutionary forces that keep them polymorphic. Finally, our results also have implications for mapping disease genes and for the genetics of fertility.
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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.