ArticleGenome research2007
The origin and evolution of human ampliconic gene families and ampliconic structure.
Article in Genome research, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed.
- Signatures of sex ratio distortion in humans.bioRxiv : the preprint server for biology · 2026Article
- Chromosome-level echidna genome illuminates evolution of multiple sex chromosome system in monotremes.GigaScience · 2025Article
- Genome-scale evolution in local populations of wild chimpanzees.Scientific reports · 2025Article
- Transcript Isoform Diversity of Y Chromosome Ampliconic Genes of Great Apes Uncovered Using Long Reads and Telomere-to-Telomere Reference Genome Assemblies.bioRxiv : the preprint server for biology · 2024Article
- 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
- Multiscale analysis of pangenomes enables improved representation of genomic diversity for repetitive and clinically relevant genes.Nature methods · 2023Article
- Eighty million years of rapid evolution of the primate Y chromosome.Nature ecology & evolution · 2023Article
- Review
- Dynamic evolution of great ape Y chromosomes.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Assembly of the threespine stickleback Y chromosome reveals convergent signatures of sex chromosome evolution.Genome biology · 2020Article
- Genetic Landscape of Nonobstructive Azoospermia and New Perspectives for the Clinic.Journal of clinical medicine · 2020Review
- Review
- Dosage regulation, and variation in gene expression and copy number of human Y chromosome ampliconic genes.PLoS genetics · 2019Article
- The evolutionary history of grey wolf Y chromosomes.Molecular ecology · 2019Article
- Deciphering highly similar multigene family transcripts from Iso-Seq data with IsoCon.Nature communications · 2018Article
- High Levels of Copy Number Variation of Ampliconic Genes across Major Human Y Haplogroups.Genome biology and evolution · 2018Article
- Y chromosome palindromes and gene conversion.Human genetics · 2017Review
- The Y chromosomes of the great apes.Human genetics · 2017Review
- A time- and cost-effective strategy to sequence mammalian Y Chromosomes: an application to the de novo assembly of gorilla Y.Genome research · 2016Article
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Out of the nine male-specific gene families in the human Y chromosome amplicons, we investigate the origin and evolution of seven families for which gametologous and orthologous sequences are available. Proto-X/Y gene pairs in the original mammalian sex chromosomes played major roles in origins and gave rise to five gene families: XKRY, VCY, HSFY, RBMY, and TSPY. The divergence times between gametologous X- and Y-linked copies in these families are well correlated with the former X-chromosomal locations. The CDY and DAZ families originated exceptionally by retroposition and transposition of autosomal copies, respectively, but CDY possesses an X-linked copy of enigmatic origin. We also investigate the evolutionary relatedness among Y-linked copies of a gene family in light of their ampliconic locations (palindromes, inverted repeats, and the TSPY array). Although any pair of copies located at the same arm positions within a palindrome is identical or nearly so by frequent gene conversion, copies located at different arm positions are distinctively different. Since these and other distinct copies in various gene families were amplified almost simultaneously in the stem lineage of Catarrhini, we take these simultaneous amplifications as evidence for the elaborate formation of Y ampliconic structure. Curiously, some copies in a gene family located at different palindromes exhibit high sequence similarity, and in most cases, such similarity greatly extends to repeat units that harbor these copies. It appears that such palindromic repeat units have evolved by and large en bloc, but they have undergone frequent exchanges between palindromes.
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