May 17, 2006

Microcephalin and ASPM do not Account for Brain Size Variability

Related to these recent papers, a new study on Microcephalin and ASPM, the "brain genes" under recent selection.

Human Molecular Genetics (Advance Access published online on May 10, 2006)

Normal Variants of Microcephalin and ASPM Do Not Account for Brain Size Variability

Roger P. Woods et al.

Abstract

Normal human brain volume is heritable. The genes responsible for variation in brain volume are not known. Microcephalin (MCPH1) and ASPM (abnormal spindle-like microcephaly associated) have been proposed as candidate genes since mutations in both genes are associated with microcephaly and common variants of each gene are apparently under strong positive selective pressure. In 120 normal subjects, we genotyped these variants and measured brain volumes using magnetic resonance imaging. We found no evidence that the selected alleles were associated with increases or decreases in brain volume. This result suggests that the selective pressure on these genes may be related to subtle neurobiological effects or to their expression outside the brain.

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