ArticlePloS one2017
Embryonic loss of human females with partial trisomy 19 identifies region critical for the single active X.
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- A Meta-Analysis of Brain DNA Methylation Across Sex, Age, and Alzheimer's Disease Points for Accelerated Epigenetic Aging in Neurodegeneration.Frontiers in aging neuroscience · 2021Pooled it
- Reproducible autosomal gene expression changes with loss of typical X and Y complement across tumor types.bioRxiv : the preprint server for biology · 2025Article
- Analysis of sex-biased gene expression in a Eurasian admixed population.Briefings in bioinformatics · 2024Article
- Silencing XIST on the future active X: Searching human and bovine preimplantation embryos for the repressor.European journal of human genetics : EJHG · 2024Article
- Hemizygosity can reveal variant pathogenicity on the X-chromosome.Human genetics · 2023Article
- Gene regulation in time and space during X-chromosome inactivation.Nature reviews. Molecular cell biology · 2022Review
- Stochastic gene expression and chromosome interactions in protecting the human active X from silencing byNucleus (Austin, Tex.) · 2021Article
- Examining Sex Differences in the Human Placental Transcriptome During the First Fetal Androgen Peak.Reproductive sciences (Thousand Oaks, Calif.) · 2021Article
- Paircounting.Trends in genetics : TIG · 2019Article
- The X chromosome and sex-specific effects in infectious disease susceptibility.Human genomics · 2019Review
- Escape From X-Chromosome Inactivation: An Evolutionary Perspective.Frontiers in cell and developmental biology · 2019Review
- The Non-random Location of Autosomal Genes That Participate in X Inactivation.Frontiers in cell and developmental biology · 2019Article
- Effect of assisted reproductive technology on the molecular karyotype of missed abortion tissues.Bioscience reports · 2018Article
- The eXceptional nature of the X chromosome.Human molecular genetics · 2018Review
- Transcriptional modulation of entire chromosomes: dosage compensation.Journal of genetics · 2018Review
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
To compensate for the sex difference in the number of X chromosomes, human females, like human males have only one active X. The other X chromosomes in cells of both sexes are silenced in utero by XIST, the Inactive X Specific Transcript gene, that is present on all X chromosomes. To investigate the means by which the human active X is protected from silencing by XIST, we updated the search for a key dosage sensitive XIST repressor using new cytogenetic data with more precise resolution. Here, based on a previously unknown sex bias in copy number variations, we identify a unique region in our genome, and propose candidate genes that lie within, as they could inactivate XIST. Unlike males, the females who duplicate this region of chromosome 19 (partial 19 trisomy) do not survive embryogenesis; this preimplantation loss of females may be one reason that more human males are born than females.
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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.