ArticleProceedings of the National Academy of Sciences of the United States of America1993
Deficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 85 citations in OpenAlex.
- Characterization of a rare mosaic X-ring chromosome in a patient with Turner syndrome.Molecular cytogenetics · 2022Article
- Stochastic gene expression and chromosome interactions in protecting the human active X from silencing byNucleus (Austin, Tex.) · 2021Article
- Xp22.33p22.12 Duplication in a Patient with Intellectual Disability and Dysmorphic Facial Features.Molecular syndromology · 2016Article
- Role of ATRX in chromatin structure and function: implications for chromosome instability and human disease.Reproduction (Cambridge, England) · 2011Review
- X-chromosome inactivation: molecular mechanisms from the human perspective.Human genetics · 2011Review
- New issues in the diagnosis and management of Turner syndrome.Reviews in endocrine & metabolic disorders · 2005Review
- Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study.Journal of medical genetics · 1998Article
- Uniparental and functional X disomy in Turner syndrome patients with unexplained mental retardation and X derived marker chromosomes.Journal of medical genetics · 1998Article
- Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis.Journal of medical genetics · 1996Review
- XIST RNA paints the inactive X chromosome at interphase: evidence for a novel RNA involved in nuclear/chromosome structure.The Journal of cell biology · 1996Article
- Lack of X inactivation associated with maternal X isodisomy: evidence for a counting mechanism prior to X inactivation during human embryogenesis.American journal of human genetics · 1996Article
- Cytogenetic and molecular findings in patients with Turner's syndrome stigmata.Journal of medical genetics · 1995Article
- A familial Xp+ chromosome, dup (Xq26.3-->qter).Journal of medical genetics · 1995Article
- Molecular cytogenetic characterisation of a small ring X chromosome in a Turner patient and in a male patient with congenital abnormalities: role of X inactivation.Journal of medical genetics · 1995Article
- The severe phenotype of females with tiny ring X chromosomes is associated with inability of these chromosomes to undergo X inactivation.American journal of human genetics · 1994Article
- Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlations.American journal of human genetics · 1994Review
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
The severe phenotype of human females whose karyotype includes tiny ring X chromosomes has been attributed to the inability of the small ring X chromosome to inactivate. The XIST locus is expressed only from the inactive X chromosome, resides at the putative X inactivation center, and is considered a prime player in the initiation of mammalian X dosage compensation. Using PCR, Southern blot analysis, and in situ hybridization, we have looked for the presence of the XIST locus in tiny ring X chromosomes from eight females who have multiple congenital malformations and severe mental retardation. Our studies reveal heterogeneity within this group; some rings lack the XIST locus, while others have sequences homologous to probes for XIST. However, in the latter, the locus is either not expressed or negligibly expressed, based on reverse transcription-PCR analysis. Therefore, what these tiny ring chromosomes have in common is a level of XIST transcription comparable to an active X. As XIST transcription is an indicator of X chromosome inactivity, the absence of XIST transcription strongly suggests that tiny ring X chromosomes in females with severe phenotypes are mutants in the X chromosome inactivation pathway and that the inability of these rings to inactivate is responsible for the severe phenotypes.
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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.