Primary Microcephaly: Do All Roads Lead to Rome?

Trends Genet. 2009 Nov;25(11):501-10. doi: 10.1016/j.tig.2009.09.011. Epub 2009 Oct 21.

Abstract

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.

Publication types

  • Review

MeSH terms

  • Animals
  • Cell Cycle Proteins
  • Centrioles / metabolism
  • Genes, Recessive
  • Genetic Variation
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics
  • Intracellular Signaling Peptides and Proteins / metabolism
  • Microcephaly / genetics*
  • Models, Biological
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / metabolism

Substances

  • CDK5RAP2 protein, human
  • Cell Cycle Proteins
  • Intracellular Signaling Peptides and Proteins
  • Nerve Tissue Proteins