ArticlePLoS genetics2014
Natural selection reduced diversity on human y chromosomes.
Article in PLoS genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers.
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Who cites it
58 citing papers in PubMed, 127 citations in OpenAlex.
- Genomic insights into natural selection in recent human history.Nature reviews. Genetics · 2026Review
- Article
- Population-scale Y chromosome assemblies reveal recurrent remodeling within constrained architectures.bioRxiv : the preprint server for biology · 2026Article
- Best practices for improving alignment and variant calling on human sex chromosomes.American journal of human genetics · 2026Article
- Genomic architecture and evolution of heterostyly: new insights from Cordia subcordata (Boraginaceae).Molecular biology and evolution · 2026Article
- Genetic diversity of the Y-chromosome in domestic animals: from evolutionary insights to functional implications.Molecular biology reports · 2025Review
- Genomic evidence for males of exceptional reproductive output (ERO) in apes and humans.National science review · 2025Article
- Small variant benchmark from a complete assembly of X and Y chromosomes.Nature communications · 2025Article
- Improved assembly of the Pungitius pungitius reference genome.G3 (Bethesda, Md.) · 2024Article
- Article
- Patrilineal segmentary systems provide a peaceful explanation for the post-Neolithic Y-chromosome bottleneck.Nature communications · 2024Article
- Positive Selection Drives cis-regulatory Evolution Across the Threespine Stickleback Y Chromosome.Molecular biology and evolution · 2024Article
- Population Genomics of the Facultatively Sexual Liverwort Marchantia polymorpha.Genome biology and evolution · 2023Article
- Article
- Mitochondrial Pseudogenes Suggest Repeated Inter-Species Hybridization among Direct Human Ancestors.Genes · 2022Article
- A spatially aware likelihood test to detect sweeps from haplotype distributions.PLoS genetics · 2022Article
- Occasional paternal inheritance of the germline-restricted chromosome in songbirds.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- The Y chromosome and its impact on health and disease.Human molecular genetics · 2021Review
- A neutral model for the loss of recombination on sex chromosomes.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2021Article
- Assembly of the threespine stickleback Y chromosome reveals convergent signatures of sex chromosome evolution.Genome biology · 2020Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The human Y chromosome exhibits surprisingly low levels of genetic diversity. This could result from neutral processes if the effective population size of males is reduced relative to females due to a higher variance in the number of offspring from males than from females. Alternatively, selection acting on new mutations, and affecting linked neutral sites, could reduce variability on the Y chromosome. Here, using genome-wide analyses of X, Y, autosomal and mitochondrial DNA, in combination with extensive population genetic simulations, we show that low observed Y chromosome variability is not consistent with a purely neutral model. Instead, we show that models of purifying selection are consistent with observed Y diversity. Further, the number of sites estimated to be under purifying selection greatly exceeds the number of Y-linked coding sites, suggesting the importance of the highly repetitive ampliconic regions. While we show that purifying selection removing deleterious mutations can explain the low diversity on the Y chromosome, we cannot exclude the possibility that positive selection acting on beneficial mutations could have also reduced diversity in linked neutral regions, and may have contributed to lowering human Y chromosome diversity. Because the functional significance of the ampliconic regions is poorly understood, our findings should motivate future research in this area.
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