The Abnormal Spindle-like, Microcephaly-associated (ASPM) Gene Encodes a Centrosomal Protein
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چکیده
منابع مشابه
The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein.
The most common cause of primary autosomal recessive microcephaly (MCPH) appears to be mutations in the ASPM gene which is involved in the regulation of neurogenesis. The predicted gene product contains two putative N-terminal calponin-homology (CH) domains and a block of putative calmodulin-binding IQ domains common in actin binding cytoskeletal and signaling proteins. Previous studies in mous...
متن کاملHuman microcephaly ASPM protein is a spindle pole-focusing factor
Nonsense mutations in the ASPM gene have been most frequently identified among familial microcephaly patients. Depletion of ASPM causes spindle pole unfocusing during mitosis in multiple cell types of Drosophila. However, it remains unknown whether human ASPM has a similar function. Here, using CRISPR-based gene knockout (KO) and RNA interference combined with chemical inhibitors and auxin-indu...
متن کاملExpression analysis of the autosomal recessive primary microcephaly genes MCPH1 (microcephalin) and MCPH5 (ASPM, abnormal spindle-like, microcephaly associated) in human malignant gliomas.
Patients with autosomal recessive primary microcephaly have a small but architecturally normal brain containing a reduced number of neurons. Microcephalin and ASPM are two of the genes causing this disease. Both are centrosomal proteins involved in cell cycle regulation. Whereas microcephalin is a component of the DNA damage response and a repressor of telomerase function, ASPM is required for ...
متن کاملHuman microcephaly ASPM protein is a spindle pole-focusing factor that functions redundantly with CDK5RAP2.
Nonsense mutations in the ASPM gene have been most frequently identified among familial microcephaly patients. Depletion of the Drosophila orthologue (asp) causes spindle pole unfocusing during mitosis in multiple cell types. However, it remains unknown whether human ASPM has a similar function. Here, by performing CRISPR-based gene knockout (KO) and RNA interference combined with auxin-inducib...
متن کاملAngelman Syndrome Protein UBE3A Interacts with Primary Microcephaly Protein ASPM, Localizes to Centrosomes and Regulates Chromosome Segregation
Many proteins associated with the phenotype microcephaly have been localized to the centrosome or linked to it functionally. All the seven autosomal recessive primary microcephaly (MCPH) proteins localize at the centrosome. Microcephalic osteodysplastic primordial dwarfism type II protein PCNT and Seckel syndrome (also characterized by severe microcephaly) protein ATR are also centrosomal prote...
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ژورنال
عنوان ژورنال: Cell Cycle
سال: 2005
ISSN: 1538-4101,1551-4005
DOI: 10.4161/cc.4.9.2029