ArticlePloS one2012
A novel MCPH1 isoform complements the defective chromosome condensation of human MCPH1-deficient cells.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 29 citations in OpenAlex.
- Review
- Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size.Cells · 2023Review
- The emerging role of MCPH1/BRIT1 in carcinogenesis.Frontiers in oncology · 2023Review
- Review
- Multifaceted Microcephaly-Related Gene MCPH1.Cells · 2022Review
- The N-terminal BRCT domain determines MCPH1 function in brain development and fertility.Cell death & disease · 2021Article
- Microcephalin 1/BRIT1-TRF2 interaction promotes telomere replication and repair, linking telomere dysfunction to primary microcephaly.Nature communications · 2020Article
- Mitotic entry upon Topo II catalytic inhibition is controlled by Chk1 and Plk1.The FEBS journal · 2020Article
- MCPH1 Lack of Function Enhances Mitotic Cell Sensitivity Caused by Catalytic Inhibitors of Topo II.Genes · 2020Article
- MCPH1 is essential for cellular adaptation to the GFASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2019Article
- Article
- Phosphorylation of MCPH1 isoforms during mitosis followed by isoform-specific degradation by APC/C-CDH1.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2019Article
- Transgelin induces dysfunction of fetal endothelial colony-forming cells from gestational diabetic pregnancies.American journal of physiology. Cell physiology · 2018Article
- 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
- Mesenchyme Homeobox 2 Enhances Migration of Endothelial Colony Forming Cells Exposed to Intrauterine Diabetes Mellitus.Journal of cellular physiology · 2017Article
- Chromosome structure deficiencies in MCPH1 syndrome.Chromosoma · 2015Article
- MCPH1: a window into brain development and evolution.Frontiers in cellular neuroscience · 2015Review
- The Drosophila MCPH1-B isoform is a substrate of the APCCdh1 E3 ubiquitin ligase complex.Biology open · 2014Article
- Deregulation of microcephalin and ASPM expression are correlated with epithelial ovarian cancer progression.PloS one · 2014Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
Abstract
Biallelic mutations in MCPH1 cause primary microcephaly (MCPH) with the cellular phenotype of defective chromosome condensation. MCPH1 encodes a multifunctional protein that notably is involved in brain development, regulation of chromosome condensation, and DNA damage response. In the present studies, we detected that MCPH1 encodes several distinct transcripts, including two major forms: full-length MCPH1 (MCPH1-FL) and a second transcript lacking the six 3' exons (MCPH1Δe9-14). Both variants show comparable tissue-specific expression patterns, demonstrate nuclear localization that is mediated independently via separate NLS motifs, and are more abundant in certain fetal than adult organs. In addition, the expression of either isoform complements the chromosome condensation defect found in genetically MCPH1-deficient or MCPH1 siRNA-depleted cells, demonstrating a redundancy of both MCPH1 isoforms for the regulation of chromosome condensation. Strikingly however, both transcripts are regulated antagonistically during cell-cycle progression and there are functional differences between the isoforms with regard to the DNA damage response; MCPH1-FL localizes to phosphorylated H2AX repair foci following ionizing irradiation, while MCPH1Δe9-14 was evenly distributed in the nucleus. In summary, our results demonstrate here that MCPH1 encodes different isoforms that are differentially regulated at the transcript level and have different functions at the protein level.
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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.