Microcephaly Modeling of Kinetochore Mutation Reveals a Brain-Specific Phenotype
Open accessAbstract
Most genes mutated in microcephaly patients are expressed ubiquitously, and yet the brain is the only major organ compromised in most patients. Why the phenotype remains brain specific is poorly understood. In this study, we used in vitro differentiation of human embryonic stem cells to monitor the effect of a point mutation in kinetochore null protein 1 (KNL1; CASC5), identified in microcephaly patients, during in vitro brain development. We found that neural progenitors bearing a patient mutation showed reduced KNL1 levels, aneuploidy, and an abrogated spindle assembly checkpoint. By contrast, no reduction of KNL1 levels or abnormalities was observed in fibroblasts and neural crest cells. We established that the KNL1 patient mutation generates an exonic splicing silencer site, which mainly affects neural progenitors because of their higher levels of splicing proteins. Our results provide insight into the brain-specific phenomenon, consistent with microcephaly being the only major phenotype of patients bearing KNL1 mutation.
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Protein-coding changes in cell cycle-related genes are highly relevant candidates for human-specific traits, with the brain being specifically sensitive to such changes.
“It has been proposed previously that protein-coding changes in cell cycle-related genes are highly relevant candidates for human-specific traits1,20, with the brain being specifically sensitive to such changes61.”
From A catalog of single nucleotide changes distinguishing modern humans from archaic hominins (2019) · cites this paper as [61]
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- Authors
- Omer Javed, A., Li, Y., Muffat, J., Su, K.-C., Cohen, M. A., Lungjangwa, T., Aubourg, P., Cheeseman, I. M., & Jaenisch, R.
- Affiliations
- University of Toronto (CA)
- Whitehead Institute for Biomedical Research (US)
- Inserm (FR)
- Corresponding author
- Jaenisch, Rudolf
- Venue
- Cell Reports
- Publisher
- Elsevier BV
- Published
- 2018-10
- Volume
- 25
- Issue
- 2
- Pages
- 368-382.e5
- ISSN
- 2211-1247 (ISSN-L)
- PMC
- PMC6392048
- OpenAlex
- W2896687431
- Cited by
- 46
- References
- 43
- Citations by year
- 2026: 4 · 2025: 4 · 2024: 6 · 2023: 5 · 2022: 6 · 2021: 5 · 2020: 11 · 2019: 4 · 2018: 1
- FWCI
- 2.91
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Cell Reports (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion, other-oa)
- PubMed Central (acceptedVersion, cc-by-nc-nd)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- DSpace@MIT (Massachusetts Institute of Technology) (submittedVersion, cc-by-nc-nd)
- Archivio Istituzionale della Ricerca - Università Vita-Salute San Raffaele (submittedVersion)
- Funders
- Association Européenne contre les Leucodystrophies
- National Institutes of Health (R37-CA084198, 1U19AI131135-01, HD 045022)
- International Rett Syndrome Foundation
- National Alliance for Research on Schizophrenia and Depression
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Microtubule and mitosis dynamics
- Life Sciences › Neuroscience › Developmental Neuroscience › Neurogenesis and neuroplasticity mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- microcephaly, KNL1, point mutations, neural progenitor cells, aneuploidy, spindle assembly checkpoint, exonic splicing silencer, alternative splicing, human embryonic stem cell differentiation, fibroblasts, neural crest cells
- MeSH terms
- Brain, Cells, Cultured, Humans, Microcephaly, Microtubule-Associated Proteins, Mutation, Phenotype, RNA Splicing, Kinetochores, Embryonic Stem Cells, Neural Stem Cells, M Phase Cell Cycle Checkpoints
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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