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Primary Microcephaly: Do All Roads Lead to Rome?

Overview
Journal Trends Genet
Specialty Genetics
Date 2009 Oct 24
PMID 19850369
Citations 210
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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.

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References
1.
Desir J, Cassart M, David P, Van Bogaert P, Abramowicz M . Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally. Am J Med Genet A. 2008; 146A(11):1439-43. DOI: 10.1002/ajmg.a.32312. View

2.
Gul A, Hassan M, Mahmood S, Chen W, Rahmani S, Naseer M . Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: Novel sequence variants in ASPM gene. Neurogenetics. 2006; 7(2):105-10. DOI: 10.1007/s10048-006-0042-4. View

3.
Nicholas A, Swanson E, Cox J, Karbani G, Malik S, Springell K . The molecular landscape of ASPM mutations in primary microcephaly. J Med Genet. 2008; 46(4):249-53. PMC: 2658750. DOI: 10.1136/jmg.2008.062380. View

4.
Barkovich A, Millen K, Dobyns W . A developmental classification of malformations of the brainstem. Ann Neurol. 2007; 62(6):625-39. DOI: 10.1002/ana.21239. View

5.
Mekel-Bobrov N, Gilbert S, Evans P, Vallender E, Anderson J, Hudson R . Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens. Science. 2005; 309(5741):1720-2. DOI: 10.1126/science.1116815. View