ArticleAmerican journal of human genetics2002
Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
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Who cites it
41 citing papers in PubMed, 159 citations in OpenAlex.
- A phospho-switch to trigger mitotic chromosome condensation.Biology direct · 2026Article
- 3D epigenomics and 3D epigenopathies.BMB reports · 2024Review
- Microcephaly GeneInternational journal of molecular sciences · 2024Article
- The emerging role of MCPH1/BRIT1 in carcinogenesis.Frontiers in oncology · 2023Review
- Review
- Multifaceted Microcephaly-Related Gene MCPH1.Cells · 2022Review
- A mini-review of the role of condensin in human nervous system diseases.Frontiers in molecular neuroscience · 2022Review
- Article
- Time is of the essence: the molecular mechanisms of primary microcephaly.Genes & development · 2021Review
- The N-terminal BRCT domain determines MCPH1 function in brain development and fertility.Cell death & disease · 2021Article
- Autosomal Recessive Primary Microcephaly: Not Just a Small Brain.Frontiers in cell and developmental biology · 2021Review
- Mitotic entry upon Topo II catalytic inhibition is controlled by Chk1 and Plk1.The FEBS journal · 2020Article
- Primary Microcephaly with Novel Variant ofJournal of pediatric genetics · 2020Article
- MCPH1 Lack of Function Enhances Mitotic Cell Sensitivity Caused by Catalytic Inhibitors of Topo II.Genes · 2020Article
- Dissecting the Genetic and Etiological Causes of Primary Microcephaly.Frontiers in neurology · 2020Review
- Tumor suppressor MCPH1 regulates gene expression profiles related to malignant conversion and chromosomal assembly.International journal of cancer · 2019Article
- MCPH1 is essential for cellular adaptation to the GFASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2019Article
- Impact of DNA repair and stability defects on cortical development.Cellular and molecular life sciences : CMLS · 2018Review
- The E3 ubiquitin ligase APC/CThe EMBO journal · 2017Article
- MCPH1, mutated in primary microcephaly, is required for efficient chromosome alignment during mitosis.Scientific reports · 2017Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report a novel autosomal recessive disorder characterized by premature chromosome condensation in the early G2 phase. It was observed in two siblings, from consanguineous parents, affected with microcephaly, growth retardation, and severe mental retardation. Chromosome analysis showed a high frequency of prophase-like cells (>10%) in lymphocytes, fibroblasts, and lymphoblast cell lines with an otherwise normal karyotype. (3)H-thymidine-pulse labeling and autoradiography showed that, 2 h after the pulse, 28%-35% of the prophases were labeled, compared with 9%-11% in healthy control subjects, indicating that the phenomenon is due to premature chromosome condensation. Flow cytometry studies demonstrate that the entire cell cycle is not prolonged, compared with that in healthy control subjects, and compartment sizes did not differ from those in healthy control subjects. No increased reaction of the cells to X-irradiation or treatments with the clastogens bleomycin and mitomycin C was observed, in contrast to results in the cell-cycle mutants ataxia telangiectasia and Fanconi anemia. The rates of sister chromatid exchanges and the mitotic nondisjunction rates were inconspicuous. Premature entry of cells into mitosis suggests that a gene involved in cell-cycle regulation is mutated in these siblings.
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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.