Normal variants of Microcephalin and ASPM do not account for brain size variability.

TitleNormal variants of Microcephalin and ASPM do not account for brain size variability.
Publication TypeJournal Article
Year of Publication2006
AuthorsWoods, RP, Freimer NB, De Young JA, Fears SC, Sicotte NL, Service SK, Valentino DJ, Toga AW, Mazziotta JC
JournalHuman molecular genetics
Volume15
Issue12
Pagination2025-9
Date Published2006 Jun 15
ISSN0964-6906
KeywordsAdolescent, Adult, Brain, Genotype, Humans, Magnetic Resonance Imaging, Microcephaly, Nerve Tissue Proteins, Organ Size, Polymerase Chain Reaction, Polymorphism, Single Nucleotide
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 as 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.

DOI10.1111/j.1528-1167.2012.03574.x
Alternate JournalHum. Mol. Genet.