ArticleHuman genetics2011
Mary Lyon and the hypothesis of random X chromosome inactivation.
Article in Human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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22 citing papers in PubMed, 41 citations in OpenAlex.
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- Improved genetic screening with zygosity detection through multiplex high-resolution melting curve analysis and biochemical characterisation for G6PD deficiency.Tropical medicine & international health : TM & IH · 2025Article
- Spectrum of glucose-6-phosphate dehydrogenase (G6PD) mutations and trends in hemoglobin levels among adult dengue patients in Thailand.PloS one · 2025Article
- The role of aryl hydrocarbon receptor signalling in COVID-19 pathology and its therapeutic potential.Frontiers in molecular medicine · 2025Review
- Genetic analysis and molecular basis of G6PD deficiency among malaria patients in Thailand: implications for safe use of 8-aminoquinolines.Malaria journal · 2024Article
- Thrombotic Disease in Hemophilic Patients: Is This a Paradox in a State of Hypocoagulability?Diagnostics (Basel, Switzerland) · 2024Review
- Unraveling the pathogenic mechanism of a novel filamin a frameshift variant in periventricular nodular heterotopia.Frontiers in pharmacology · 2024Article
- Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.European journal of human genetics : EJHG · 2023Article
- Sex differences in susceptibility to substance use disorder: Role for X chromosome inactivation and escape?Molecular and cellular neurosciences · 2023Review
- Molecular characterization of G6PD mutations identifies new mutations and a high frequency of intronic variants in Thai females.PloS one · 2023Article
- Insights into the Molecular Genetic of Hemophilia A and Hemophilia B: The Relevance of Genetic Testing in Routine Clinical Practice.Hamostaseologie · 2022Review
- Loss of biological control of enamel mineralization in amelogenin-phosphorylation-deficient mice.Journal of structural biology · 2022Article
- A large population study reveals a novel association between congenital color vision deficiency and environmental factors.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2022Article
- Genotype-phenotype association and biochemical analyses of glucose-6-phosphate dehydrogenase variants: Implications for the hemolytic risk of using 8-aminoquinolines for radical cure.Frontiers in pharmacology · 2022Article
- Assessment of CareStart G6PD rapid diagnostic test and CareStart G6PD biosensor in Mauritania.Infectious diseases of poverty · 2021Article
- Glucose-6-phosphate dehydrogenase mutations in malaria endemic area of Thailand by multiplexed high-resolution melting curve analysis.Malaria journal · 2021Article
- COVID-19 Is a Multi-Organ Aggressor: Epigenetic and Clinical Marks.Frontiers in immunology · 2021Review
- Monitoring of switches in heterochromatin-induced silencing shows incomplete establishment and developmental instabilities.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- Dosage compensation in the process of inactivation/reactivation during both germ cell development and early embryogenesis in mouse.Scientific reports · 2017Article
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Abstract
The 50th anniversary of Mary Lyon's 1961 Nature paper, proposing random inactivation in early embryonic life of one of the two X chromosomes in the cells of mammalian females, provides an opportunity to remember and celebrate the work of those involved. While the hypothesis was initially put forward by Lyon based on findings in the mouse, it was founded on earlier studies, notably the work of Susumu Ohno; it was also suggested independently by Beutler and colleagues using experimental evidence from a human X-linked disorder, glucose-6-phosphate dehydrogenase deficiency, and has proved to be of as great importance for human and medical genetics as it has for general mammalian genetics. Alongside the hypothesis itself, previous cytological studies of mouse and human chromosomes, and the observations on X-linked mutants in both species deserve recognition for their essential role in underpinning the hypothesis of random X-inactivation, while subsequent research on the X-inactivation centre and the molecular mechanisms underlying the inactivation process represent some of the most outstanding contributions to human and wider mammalian genetics over the past 50 years.
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