ArticleFunctional & integrative genomics2013
Copy number variation-based polymorphism in a new pseudoautosomal region 3 (PAR3) of a human X-chromosome-transposed region (XTR) in the Y chromosome.
Article in Functional & integrative genomics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 58 citations in OpenAlex.
- Best practices for improving alignment and variant calling on human sex chromosomes.American journal of human genetics · 2026Article
- Metapipeline-DNA: A comprehensive germline and somatic genomics Nextflow pipeline.Cell reports methods · 2026Article
- Evolutionary divergence between homologous X-Y chromosome genes shapes sex-biased biology.Nature ecology & evolution · 2025Article
- Small variant benchmark from a complete assembly of X and Y chromosomes.Nature communications · 2025Article
- Inter-chromosomal contacts demarcate genome topology along a spatial gradient.Nature communications · 2024Article
- Review
- Article
- Who's afraid of the X? Incorporating the X and Y chromosomes into the analysis of DNA methylation array data.Epigenetics & chromatin · 2023Article
- Genomic and demographic processes differentially influence genetic variation across the human X chromosome.PloS one · 2023Article
- Major sex differences in allele frequencies for X chromosomal variants in both the 1000 Genomes Project and gnomAD.PLoS genetics · 2022Article
- GTQC: Automated Genotyping Array Quality Control and Report.Journal of genomics · 2022Article
- Differences between human and chimpanzee genomes and their implications in gene expression, protein functions and biochemical properties of the two species.BMC genomics · 2020Review
- Reference genome and transcriptome informed by the sex chromosome complement of the sample increase ability to detect sex differences in gene expression from RNA-Seq data.Biology of sex differences · 2020Article
- Molecular fossils "pseudogenes" as functional signature in biological system.Genes & genomics · 2020Review
- Review
- UniProt genomic mapping for deciphering functional effects of missense variants.Human mutation · 2019Article
- Strategies for processing and quality control of Illumina genotyping arrays.Briefings in bioinformatics · 2018Article
- Genetics of the human Y chromosome and its association with male infertility.Reproductive biology and endocrinology : RB&E · 2018Review
- A genome-wide study of Hardy-Weinberg equilibrium with next generation sequence data.Human genetics · 2017Article
- DNA copy number profiling in microsatellite-stable and microsatellite-unstable hereditary non-polyposis colorectal cancers by targeted CNV array.Functional & integrative genomics · 2017Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A 3.5-Mb region of the X chromosome underwent duplication and transposition to the Y chromosome ~5-6 Mya. This X-transposed-region (XTR) originated at Xq21.3 and was inserted at Yp11.2. The two locations have 98.78 % homology and a high concentration of tandem repeats. In whole-genome scans of ten large families with dyslexic members, we identified transposed blocks comprising >102 kb of the Yp11.2 region in its homologous region at Xq21.3 in three females from three different families. Although recombination is known to be limited only to the pseudoautosomal regions (PARs) of the X and Y chromosomes, we report allelic unequal recombination between the XTR region Yp11.2 and Xq21.3, indicating the presence of a new PAR, which we named PAR3. This PAR3 region was also found in 2 % of the general population. An additional layer of justification could be provided from six other dyslexic cases which harbored duplications and deletions in the same Xq21.3 and Yp11.2 regions through allelic unequal recombination.
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