Primary microcephaly: do all roads lead to Rome?
The relatively large brain and expanded cerebral cortex of humans is unusual in the animal kingdom and is thought to have promoted our adaptability and success as a species. One approach for investigating neurogenesis is the study of autosomal recessive primary microcephaly (MCPH), in which prenatal brain growth is significantly reduced without an effect on brain structure. To date, eight MCPH loci and five genes have been identified. Unexpectedly, all MCPH proteins are ubiquitous and localise to centrosomes for at least part of the cell cycle. Here, we focus on recent functional studies of MCPH proteins that reveal the centrosome as a final integration point for many regulatory pathways affecting prenatal neurogenesis in mammals.
Department of Medical Genetics, Cambridge Institute for Medical Research, Wellcome/MRC Building, Addenbrookes Hospital, Cambridge, UK.
Gemma K
GK
Thornton
C Geoffrey
CG
Woods
D000818:Animals; D018797:Cell Cycle Proteins; D002502:Centrioles / Q000378:metabolism; D005808:Genes, Recessive; D014644:Genetic Variation; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics / Q000378:metabolism; D008831:Microcephaly / Q000235:genetics*; D008954:Models, Biological; D009419:Nerve Tissue Proteins / Q000235:genetics / Q000378:metabolism
C405929:CDK5RAP2 protein, human; D018797:Cell Cycle Proteins; D047908:Intracellular Signaling Peptides and Proteins; D009419:Nerve Tissue Proteins