ArticleGenetics2018
Dynamic Copy Number Evolution of X- and Y-Linked Ampliconic Genes in Human Populations.
Article in Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 38 citations in OpenAlex.
- Pervasive Positive Selection on X-linked Ampliconic Genes in Primates.Genome biology and evolution · 2026Article
- Signatures of sex ratio distortion in humans.bioRxiv : the preprint server for biology · 2026Article
- The Expansion of House Mouse Major Urinary Protein Genes Likely Did Not Facilitate Commensalism with Humans.Genes · 2023Article
- Genetic conflict and the origin of multigene families: implications for sex chromosome evolution.Proceedings. Biological sciences · 2023Review
- Transcript Isoform Diversity of Ampliconic Genes on the Y Chromosome of Great Apes.Genome biology and evolution · 2023Article
- Characterizing the evolution and phenotypic impact of ampliconic Y chromosome regions.Nature communications · 2023Article
- Extraordinary selection on the human X chromosome associated with archaic admixture.Cell genomics · 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
- The contribution of sex chromosome conflict to disrupted spermatogenesis in hybrid house mice.Genetics · 2022Article
- Early Breast Cancer Evolution by Autosomal Broad Copy Number Alterations.International journal of genomics · 2022Article
- Rapid Macrosatellite Evolution Promotes X-Linked Hybrid Male Sterility in a Feline Interspecies Cross.Molecular biology and evolution · 2021Article
- Genomic architecture constrained placental mammal X Chromosome evolution.Genome research · 2021Article
- The Dryas iulia Genome Supports Multiple Gains of a W Chromosome from a B Chromosome in Butterflies.Genome biology and evolution · 2021Article
- Article
- Evaluation of tools for identifying large copy number variations from ultra-low-coverage whole-genome sequencing data.BMC genomics · 2021Article
- Y chromosome copy number variation and its effects on fertility and other health factors: a review.Translational andrology and urology · 2021Review
- Battle of the Sex Chromosomes: Competition between X and Y Chromosome-Encoded Proteins for Partner Interaction and Chromatin Occupancy Drives Multicopy Gene Expression and Evolution in Muroid Rodents.Molecular biology and evolution · 2020Article
- Ampliconic Genes on the Great Ape Y Chromosomes: Rapid Evolution of Copy Number but Conservation of Expression Levels.Genome biology and evolution · 2020Article
- Review
- Massive gene amplification on a recently formed Drosophila Y chromosome.Nature ecology & evolution · 2019Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ampliconic genes are multicopy, with the majority found on sex chromosomes and enriched for testis-expressed genes. While ampliconic genes have been associated with the emergence of hybrid incompatibilities, we know little about their copy number distribution and their turnover in human populations. Here, we explore the evolution of human X- and Y-linked ampliconic genes by investigating copy number variation (CNV) and coding variation between populations using the Simons Genome Diversity Project. We develop a method to assess CNVs using the read depth on modified X and Y chromosome targets containing only one repetition of each ampliconic gene. Our results reveal extensive standing variation in copy number both within and between human populations for several ampliconic genes. For the Y chromosome, we can infer multiple independent amplifications and losses of these gene copies even within closely related Y haplogroups, that diversified < 50,000 years ago. Moreover, X- and Y-linked ampliconic genes seem to have a faster amplification dynamic than autosomal multicopy genes. Looking at expression data from another study, we also find that X- and Y-linked ampliconic genes with extensive CNV are significantly more expressed than genes with no CNV during meiotic sex chromosome inactivation (for both X and Y) and postmeiotic sex chromosome repression (for the Y chromosome only). While we cannot rule out that the XY-linked ampliconic genes are evolving neutrally, this study gives insights into the distribution of copy number within human populations and demonstrates an extremely fast turnover in copy number of these regions.
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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.