Please use this identifier to cite or link to this item: https://doi.org/10.1016/j.bbrc.2006.05.040
Title: Molecular genetic determinants of human brain size
Authors: Tang, B.L. 
Keywords: APSM
Brain
Eph
Ephrin
Microcephalin
Neural progenitors
Issue Date: 2006
Source: Tang, B.L. (2006). Molecular genetic determinants of human brain size. Biochemical and Biophysical Research Communications 345 (3) : 911-916. ScholarBank@NUS Repository. https://doi.org/10.1016/j.bbrc.2006.05.040
Abstract: Cognitive skills such as tool use, syntactical languages, and self-awareness differentiate humans from other primates. The underlying basis for this cognitive difference has been widely associated with a high encephalization quotient and an anatomically distinct, exceptionally large cerebral cortex. Investigations on congenital microcephaly had revealed several genes that affect mammalian brain size when mutated. At least four of these, microcephalin (MCPH1), abnormal spindle-like microcephaly-associated (ASPM), cyclin-dependent kinase 5 regulatory associated protein 2 (CDK5RAP2), and centromere-associated protein J (CENPJ) are known to have undergone significant positive selection in the great apes and human lineages during primate evolution. MCPH1 and ASPM both have very young single nucleotide polymorphism haplotypes associated with modern humans, and these genes are presumably still evolving in Homo sapiens. Microcephalin has a role in DNA damage response and regulation of cell cycle checkpoints. The other known microcephaly-associated genes encode microtubule-associated centrosomal proteins that might regulate neural progenitor cell division and cell number. Recent reports have also unveiled a previously unknown function of ephrins and Eph in the regulation of neural progenitor cell death with a consequential effect on brain size. Understanding the mechanism for developmental control of brain organogenesis by these genes, and others such as FOXP2, shall provide fresh perspectives on the evolution of human intelligence. © 2006 Elsevier Inc. All rights reserved.
Source Title: Biochemical and Biophysical Research Communications
URI: http://scholarbank.nus.edu.sg/handle/10635/28721
ISSN: 0006291X
10902104
DOI: 10.1016/j.bbrc.2006.05.040
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