ArticleNature2003
The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes.
Article in Nature, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 893 papers, 1 of them a synthesis that pooled it.
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Who cites it
893 citing papers in PubMed, 1 synthesis or guideline pooled it.
- A systematic review and evidence assessment of monogenic gene-disease relationships in human male infertility.Frontiers in endocrinology · 2025Pooled it
- Recurrent deletions and regulatory disruption of the Y chromosome in cancer.Communications biology · 2026Article
- A high-resolution Y-chromosomal panel for forensic paternal lineage tracing and anthropological insight: unraveling the genetic structure of the Dongxiang ethnic minority.International journal of legal medicine · 2026Article
- Beyond sex determination: the Y chromosome in male cancers.Nature reviews. Cancer · 2026Review
- Escape from X-chromosome inactivation: from gene discovery to regulatory mechanisms.Biochemical Society transactions · 2026Review
- A large palindromic segmental duplication on mouse chromosome 12 marks an evolutionarily fragile genomic interval.BMC genomics · 2026Article
- Sperm Sexing in Selected Animals and Humans: Methods, Applications, and Future Prospects.Andrology · 2026Review
- Large-scale human genomic resources drive innovations toward forensic intelligent source attribution and precision identification.International journal of legal medicine · 2026Review
- Ribosome Heterogeneity in Plants: The Causes of This Phenomenon and Its Implications on Gene Expression.Plants (Basel, Switzerland) · 2026Review
- Article
- An X-to-autosome-to-Y chromosome amplified retrogene family functions in spermatids.Current biology : CB · 2026Article
- Population-scale Y chromosome assemblies reveal recurrent remodeling within constrained architectures.bioRxiv : the preprint server for biology · 2026Article
- Decoding DNA metabolism and its clinical relevance through the lens of high-throughput sequencing assays.Medical review (2021) · 2026Review
- Quantum mechanics-based multitensor AI/ML uniquely able to discover, validate, and interpret predictors from small-cohort noisy high-dimensional multiomic data.APL quantum · 2026Article
- Loss of chromosome Y in hematopoietic cells: mechanisms and implications for human disease.MedScience · 2026Review
- Prenatal diagnosis, genetic analysis, and pregnancy outcomes of fetuses with mosaic isodicentric Y chromosomes.Molecular cytogenetics · 2026Article
- The inactive X chromosome as a female protector in autism and beyond.Nature genetics · 2026Review
- 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
- The intersection of disorders of sex development and cardiovascular diseases.Biology of sex differences · 2026Review
- Sequence homology between sex chromosomes leads to apparent heterozygosity at the DYS572 locus in massively parallel sequencing.International journal of legal medicine · 2026Article
833 more citing papers are in PubMed but not listed here.
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Authors and funding
40 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The male-specific region of the Y chromosome, the MSY, differentiates the sexes and comprises 95% of the chromosome's length. Here, we report that the MSY is a mosaic of heterochromatic sequences and three classes of euchromatic sequences: X-transposed, X-degenerate and ampliconic. These classes contain all 156 known transcription units, which include 78 protein-coding genes that collectively encode 27 distinct proteins. The X-transposed sequences exhibit 99% identity to the X chromosome. The X-degenerate sequences are remnants of ancient autosomes from which the modern X and Y chromosomes evolved. The ampliconic class includes large regions (about 30% of the MSY euchromatin) where sequence pairs show greater than 99.9% identity, which is maintained by frequent gene conversion (non-reciprocal transfer). The most prominent features here are eight massive palindromes, at least six of which contain testis genes.
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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.