Journal de protéomique et bioinformatique
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Phylogenetic Analysis of ASPM, a Major Contributor Gene of Microcephaly

Sobiah Rauf and Asif Mir

ASPM gene at MCPH5 locus is considered a major causative gene of autosomal recessive primary microcephaly (MCPH), which is a rare neurodevelopemental disorder that affects head and brain size. Mutations in this gene have contribution of more than 50% in causing MCPH for which seven loci (MCPH1 to MCPH7) have been discovered so far. The current study includes bioinformatics analysis of ASPM gene at MCPH5 locus. Bioinformatics analysis includes syntenic relationship of ASPM and its phylogenetic studies with reference to various selected orthologs. These studies have revealed information about conservation of genes among different ortholog species and their evolutionary relationship.