Creating innovative bio-convergent technologies for better human life







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일시 : 2006년 6월 12일 (월) 오후 5시
장소 : 정문술빌딩 219호
제목 : Human-specific Frameshift, Nonsense, and Exon-deletion Mutations in Our Genome
연사 : Yoonsoo Hahn (Laboratory of Molecular Biology, National Cancer Institute, National Institutes of Health)

<Abstract>
Humans have many distinct features compared with other great apes. Recent progress of primate genome sequencing projects including chimpanzee, orangutan, and rhesus macaque together with the release of the nearly complete human genome sequence enables one to directly compare the genome sequences to find lineage-specific genetic alterations that must have led to physical, physiological, and behavioral changes that are responsible for the speciation and accumulation of lineage-specific traits. The genome sequence of the modern human contains numerous human-specific additions, deletions, alterations, and relocations of genetic materials that have been applied during the 5-7 million years since human and chimpanzee split. Such modifications can result in quantitative and spatiotemporal changes in gene expression and/or structural changes of individual proteins. Destructive mutations such as frameshift, nonsense, and exon-deletion mutations, which lead to inactivation or functional modification of the gene products, may be constructive for the acquisition of species-specific traits. I have developed simple procedures for systematic collection of such destructive mutations which might have occurred in the human lineage after the human and chimpanzee split. I will present 20 human-specific mutations and their possible functional consequences.