Primary microcephaly: do all roads lead to Rome?

被引:306
作者
Thornton, Gemma K. [1 ]
Woods, C. Geoffrey [1 ]
机构
[1] Addenbrookes Hosp, Cambridge Inst Med Res, Dept Med Genet, Cambridge CB2 0XY, England
关键词
ONGOING ADAPTIVE EVOLUTION; BRAIN SIZE DETERMINANT; DNA-DAMAGE RESPONSE; GAMMA-TUBULIN; MITOTIC ENTRY; SIL GENE; CEREBRAL-CORTEX; HOMO-SAPIENS; ASPM; CELL;
D O I
10.1016/j.tig.2009.09.011
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
引用
收藏
页码:501 / 510
页数:10
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