ArticleAmerican journal of human genetics2018
Selection Has Countered High Mutability to Preserve the Ancestral Copy Number of Y Chromosome Amplicons in Diverse Human Lineages.
Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed.
- Population-scale Y chromosome assemblies reveal recurrent remodeling within constrained architectures.bioRxiv : the preprint server for biology · 2026Article
- The Contribution of Massively Parallel Sequencing in Disclosing Unusual Tri- and Tetra-Allelic Type Patterns Detected at the Multicopy Loci DYS385a/b and DYF387S1.International journal of molecular sciences · 2026Article
- Association of Y-chromosomal gr/gr deletions with testicular germ cell tumor: whole-genome analysis of 198,306 individuals.medRxiv : the preprint server for health sciences · 2026Article
- Case report on multilocus gene deletion and gene conversion at Y-STR loci.International journal of legal medicine · 2026Article
- The complete sequence of a human Y chromosome.Nature · 2023Article
- Article
- High incidence of AZF duplications in clan-structured Iranian populations detected through Y chromosome sequencing read depth analysis.Scientific reports · 2023Article
- Characterizing the evolution and phenotypic impact of ampliconic Y chromosome regions.Nature communications · 2023Article
- Genomic instability in individuals with sex determination defects and germ cell cancer.Cell death discovery · 2023Article
- Copy number variation of horse Y chromosome genes in normal equine populations and in horses with abnormal sex development and subfertility: relationship of copy number variations with Y haplogroups.G3 (Bethesda, Md.) · 2022Article
- Structural and numerical Y chromosomal variations in elderly men identified through multiplex ligation-dependent probe amplification.Journal of human genetics · 2021Article
- New insights into the evolution of human Y chromosome palindromes through mutation and gene conversion.Human molecular genetics · 2021Article
- Large palindromes on the primate X Chromosome are preserved by natural selection.Genome research · 2021Article
- Article
- Article
- Human AZFb deletions cause distinct testicular pathologies depending on their extensions in Yq11 and the Y haplogroup: new cases and review of literature.Cell & bioscience · 2021Review
- Sequence Read Depth Analysis of a Monophyletic Cluster of Y Chromosomes Characterized by Structural Rearrangements in the AZFc Region Resulting in DYS448 Deletion and DYF387S1 Duplication.Frontiers in genetics · 2021Article
- Suppression of Non-Random Fertilization by MHC Class I Antigens.International journal of molecular sciences · 2020Article
- Review
- Understanding the Early Evolutionary Stages of a Tandem Drosophilamelanogaster-Specific Gene Family: A Structural and Functional Population Study.Molecular biology and evolution · 2020Article
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Authors and funding
4 authors.
Funding
Abstract
Amplicons-large, highly identical segmental duplications-are a prominent feature of mammalian Y chromosomes. Although they encode genes essential for fertility, these amplicons differ vastly between species, and little is known about the selective constraints acting on them. Here, we develop computational tools to detect amplicon copy number with unprecedented accuracy from high-throughput sequencing data. We find that one-sixth (16.9%) of 1,216 males from the 1000 Genomes Project have at least one deleted or duplicated amplicon. However, each amplicon's reference copy number is scrupulously maintained among divergent branches of the Y chromosome phylogeny, including the ancient branch A00, indicating that the reference copy number is ancestral to all modern human Y chromosomes. Using phylogenetic analyses and simulations, we demonstrate that this pattern of variation is incompatible with neutral evolution and instead displays hallmarks of mutation-selection balance. We also observe cases of amplicon rescue, in which deleted amplicons are restored through subsequent duplications. These results indicate that, contrary to the lack of constraint suggested by the differences between species, natural selection has suppressed amplicon copy number variation in diverse human lineages.
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