PHYLOGENETIC ANALYSIS OF ASPM, A BRAIN-VOLUME-RELATED GENE IN VERTEBRATES

摘要

Bioinformatics analysis was carried out to compare nucleotide and protein sequences of ASPM (abnormal spindle-like microcephaly-associated protein), a brain-volume-related gene from nine vertebrate species to identify genetic variations that might have shaped the evolution of brain volume and underlying microcephaly malformation. Based on anatomy of brain structure, 9 species were selected. Alignment of protein and nucleotide sequences indicated that exon 18 of the ASPM gene to be the longest coding sequence and is rich in genetic variations. The number of IQ domain repeats contained in this exon seems to correlate with the brain volume. Based on the consistency between phylogenetic trees structured with molecular sequences and comparative anatomy, exon 18 of the ASPM gene may contribute to the increase of brain volume during vertebrate evolutioa