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

Hum Mol Genet. 2006 Jun 15;15(12):2025-9. doi: 10.1093/hmg/ddl126. Epub 2006 May 10.

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Brain / anatomy & histology*
  • Cell Cycle Proteins
  • Cytoskeletal Proteins
  • Genotype
  • Humans
  • Magnetic Resonance Imaging
  • Microcephaly / genetics
  • Nerve Tissue Proteins / genetics*
  • Organ Size
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide

Substances

  • ASPM protein, human
  • Cell Cycle Proteins
  • Cytoskeletal Proteins
  • MCPH1 protein, human
  • Nerve Tissue Proteins