ArticlePLoS genetics2014
Pseudoautosomal region 1 length polymorphism in the human population.
Article in PLoS genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 18 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
18 citing papers in PubMed, 32 citations in OpenAlex.
- A Novel Approach Using Microarray Testing as a Screening Method with Clinical Validation Using Whole-Genome Sequencing and Karyotyping for Identifying 46,XX Testicular Differences of Sex Development.Diagnostics (Basel, Switzerland) · 2026Article
- Cytogenetic, genomic, and reproductive characterization of four Pura Raza Española Mares carrying a 64, X, del(X), t(X; Y) complex karyotype.Journal of animal science · 2026Article
- Non-homologous sequence interactions during meiosis: meiotic challenges and evolutionary opportunities.Current opinion in genetics & development · 2025Review
- The SHR/Akr Y chromosome reveals repeated turnover of the rat pseudoautosomal region.bioRxiv : the preprint server for biology · 2025Article
- Multiple origins and phenotypic implications of an extended human pseudoautosomal region shown by analysis of the UK Biobank.American journal of human genetics · 2025Article
- Evolutionary dynamics of pseudoautosomal region 1 in humans and great apes.Genome biology · 2022Article
- Major sex differences in allele frequencies for X chromosomal variants in both the 1000 Genomes Project and gnomAD.PLoS genetics · 2022Article
- Human Spermatogenesis Tolerates Massive Size Reduction of the Pseudoautosomal Region.Genome biology and evolution · 2020Article
- Heterogeneous transposable elements as silencers, enhancers and targets of meiotic recombination.Chromosoma · 2019Review
- Instability of the Pseudoautosomal Boundary in House Mice.Genetics · 2019Article
- Recombination hotspots in an extended human pseudoautosomal domain predicted from double-strand break maps and characterized by sperm-based crossover analysis.PLoS genetics · 2018Article
- Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics.Nucleic acids research · 2018Review
- Dosage compensation in the process of inactivation/reactivation during both germ cell development and early embryogenesis in mouse.Scientific reports · 2017Article
- The Y chromosome as the most popular marker in genetic genealogy benefits interdisciplinary research.Human genetics · 2017Review
- Article
- Genetic Diversity on the Human X Chromosome Does Not Support a Strict Pseudoautosomal Boundary.Genetics · 2016Article
- Evolution of vertebrate sex chromosomes and dosage compensation.Nature reviews. Genetics · 2016Review
- Article
Corrections and comments
- Erratum issued
Authors and funding
15 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The human sex chromosomes differ in sequence, except for the pseudoautosomal regions (PAR) at the terminus of the short and the long arms, denoted as PAR1 and PAR2. The boundary between PAR1 and the unique X and Y sequences was established during the divergence of the great apes. During a copy number variation screen, we noted a paternally inherited chromosome X duplication in 15 independent families. Subsequent genomic analysis demonstrated that an insertional translocation of X chromosomal sequence into the Y chromosome generates an extended PAR [corrected].The insertion is generated by non-allelic homologous recombination between a 548 bp LTR6B repeat within the Y chromosome PAR1 and a second LTR6B repeat located 105 kb from the PAR boundary on the X chromosome. The identification of the reciprocal deletion on the X chromosome in one family and the occurrence of the variant in different chromosome Y haplogroups demonstrate this is a recurrent genomic rearrangement in the human population. This finding represents a novel mechanism shaping sex chromosomal evolution.
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Registered trials
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.