ArticleAmerican journal of human genetics2007
Defining the cause of skewed X-chromosome inactivation in X-linked mental retardation by use of a mouse model.
Article in American journal of human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 39 citations in OpenAlex.
- Expert consensus on the combined screening of genes and biomarkers for neonatal diseases.World journal of pediatrics : WJP · 2026Review
- A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing.Scientific reports · 2023Article
- A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects.Human molecular genetics · 2023Article
- A Novel Mutation in ATRX Causes Alpha-Thalassemia X-Linked Intellectual Disability Syndrome in a Han Chinese Family.Frontiers in pediatrics · 2021Article
- Review
- ATRX In-Frame Fusion Neuroblastoma Is Sensitive to EZH2 Inhibition via Modulation of Neuronal Gene Signatures.Cancer cell · 2019Article
- Persistence of skewed X-chromosome inactivation in pre-B acute lymphoblastic leukemia of a female ATRX mutation carrier.Blood advances · 2019Article
- The role of genetics in the establishment and maintenance of the epigenome.Cellular and molecular life sciences : CMLS · 2013Review
- α-Thalassemia, mental retardation, and myelodysplastic syndrome.Cold Spring Harbor perspectives in medicine · 2012Article
- Lack of Cul4b, an E3 ubiquitin ligase component, leads to embryonic lethality and abnormal placental development.PloS one · 2012Article
- Role of ATRX in chromatin structure and function: implications for chromosome instability and human disease.Reproduction (Cambridge, England) · 2011Review
- The first case of X-linked Alpha-thalassemia/mental retardation (ATR-X) syndrome in Korea.Journal of Korean medical science · 2011Article
- X chromosome inactivation in clinical practice.Human genetics · 2009Review
- Analysis of X chromosome inactivation in autism spectrum disorders.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2008Article
- Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita.Journal of medical genetics · 2008Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
Extreme skewing of X-chromosome inactivation (XCI) is rare in the normal female population but is observed frequently in carriers of some X-linked mutations. Recently, it has been shown that various forms of X-linked mental retardation (XLMR) have a strong association with skewed XCI in female carriers, but the mechanisms underlying this skewing are unknown. ATR-X syndrome, caused by mutations in a ubiquitously expressed, chromatin-associated protein, provides a clear example of XLMR in which phenotypically normal female carriers virtually all have highly skewed XCI biased against the X chromosome that harbors the mutant allele. Here, we have used a mouse model to understand the processes causing skewed XCI. In female mice heterozygous for a null Atrx allele, we found that XCI is balanced early in embryogenesis but becomes skewed over the course of development, because of selection favoring cells expressing the wild-type Atrx allele. Unexpectedly, selection does not appear to be the result of general cellular-viability defects in Atrx-deficient cells, since it is restricted to specific stages of development and is not ongoing throughout the life of the animal. Instead, there is evidence that selection results from independent tissue-specific effects. This illustrates an important mechanism by which skewed XCI may occur in carriers of XLMR and provides insight into the normal role of ATRX in regulating cell fate.
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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.