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PMID: 19850369 Published · ppublish English Journal Article Review

Primary microcephaly: do all roads lead to Rome?

Trends in genetics : TIG ·Vol. 25 ·No. 11 ·2009-11-00 ·Pages 501-10

Thornton GK, Woods CG

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.

MeSH Terms
Animals Cell Cycle Proteins Centrioles/metabolism Genes, Recessive Genetic Variation Humans Intracellular Signaling Peptides and Proteins/genetics,metabolism Microcephaly/genetics Models, Biological Nerve Tissue Proteins/genetics,metabolism
Chemicals
CDK5RAP2 protein, human Cell Cycle Proteins Intracellular Signaling Peptides and Proteins Nerve Tissue Proteins
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Thornton Gemma K
Department of Medical Genetics, Cambridge Institute for Medical Research, Wellcome/MRC Building, Addenbrookes Hospital, Cambridge, UK.
Woods C Geoffrey
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Article Info
Journal
Trends in genetics : TIG
Abbr.
Trends Genet
ISSN
0168-9525
DOI
10.1016/j.tig.2009.09.011
Published
2009-11-00
Epub
2009-00-21
Pages
501-10
Language
English
Region
England
NLM ID
8507085
PMCID
PMC2816178
Subset
IM
External Links
PubMed source DOI: 10.1016/j.tig.2009.09.011 PMC Full Text View journal details
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