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Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation
Summary
This article discusses the effects of biallelic BUB1 mutations, which cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation. Symptoms vary depending on the degree of reduced protein level and kinase activity. Patients' cells show prolonged mitosis duration, chromosome segregation errors, and an overall functional spindle assembly checkpoint. Cohesion defects do not accelerate cohesion fatigue in BUB1 patient cells. The article also provides a comparison of clinical features in selected syndromes, with some features partially resembling previously described syndromes.
Q&As
What is Biallelic BUB1?
Biallelic BUB1 is a mutation that causes microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation.
What are the clinical and cellular phenotypes of Biallelic BUB1 mutations?
The clinical and cellular phenotypes of Biallelic BUB1 mutations include microcephaly, intellectual disability, prolonged mitosis duration, chromosome segregation errors, an overall functional spindle assembly checkpoint, anaphase bridges, aneuploidy, and defective sister chromatid cohesion.
What are the effects of BUB1 levels and kinase activity?
The effects of BUB1 levels and kinase activity are variable degrees of reduced total protein level and kinase activity, leading to distinct mitotic defects.
How does BUB1 affect centromeric recruitment of Aurora B, SGO1, and TOP2A?
BUB1 affects centromeric recruitment of Aurora B, SGO1, and TOP2A by prohibiting centromeric recruitment of these proteins, correlating with anaphase bridges, aneuploidy, and defective sister chromatid cohesion.
What syndromes do BUB1 mutations partially resemble?
BUB1 mutations partially resemble previously described syndromes, including autosomal recessive primary microcephaly, mosaic variegated aneuploidy, and cohesinopathies.
AI Comments
👍 This article provides an in-depth look into the effects of Biallelic BUB1 mutations on microcephaly, developmental delay, and chromosome segregation. It is a well-researched article with detailed information on the mutations and their effects.
👎 The article does not provide any potential treatments or solutions for the effects of Biallelic BUB1 mutations, leaving readers without any practical information.
AI Discussion
Me: The article discusses the implications of biallelic BUB1 mutations, which can cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation. It looks at how the mutations lead to different degrees of reduced total protein level and kinase activity, resulting in distinct mitotic defects. It also talks about how unresolved DNA catenanes increase cohesion strength, with concomitant increase in anaphase bridges.
Friend: Wow, that's really interesting! It sounds like the mutations have a lot of implications for the development of the patient. What other effects do the mutations have?
Me: The mutations have been linked to anaphase bridges, aneuploidy, and defective sister chromatid cohesion. They also lead to a functional SAC, where cells take longer to exit mitosis, and impaired centromeric recruitment of TOP2A. These effects can lead to a range of syndromes, including autosomal recessive primary microcephaly, mosaic variegated aneuploidy, and cohesinopathies.
Action items
- Research the clinical and cellular phenotypes of BUB1 mutations in more detail.
- Explore the potential of using BUB1 mutations as a biomarker for diagnosing neurodevelopmental disorders.
- Investigate the effects of BUB1 mutations on other mitotic processes, such as spindle assembly checkpoint signalling.
Technical terms
- Biallelic
- Refers to two alleles, or versions of a gene, that are present in a single organism.
- BUB1
- Budding uninhibited by benzimidazoles 1, a protein involved in mitotic processes.
- Microcephaly
- A neurological condition characterized by an abnormally small head and brain.
- Developmental delay
- A delay in the development of physical, cognitive, or social skills.
- Cohesion
- The process by which sister chromatids remain together during cell division.
- Chromosome segregation
- The process by which chromosomes are separated during cell division.
- PMID
- Pubmed Identifier, a unique number assigned to each article in the PubMed database.
- PMCID
- PubMed Central Identifier, a unique number assigned to each article in the PubMed Central database.
- DOI
- Digital Object Identifier, a unique number assigned to each article in the scientific literature.
- NLMCatalog
- National Library of Medicine Catalog, a database of biomedical literature.