416회 Gene Disruption Mutations in the Human Genome

416회 (2008. 6. 12.)

연사 : 한 윤 수, 중앙대학교 자연과학대학 생명과학과

제목 : Gene Disruption Mutations in the Human Genome

Abstract 

 Some of the loss of ape characters and gain of human traits can be achieved by loss of gene function during human evolution. We devised bioinformatics methods for systematic identification of putative human-specific gene disruptions that might have occurred after the human and chimpanzee divergence. First, we collected human genes showing a disruptive mutation, such as frameshift, nonsense, exon-deletion, or exonic insertion, when compared with the orthologous chimpanzee genome sequence. Then, we selected those cases where in the chimpanzee ortholog maintains the ancestral gene structure as demonstrated by the presence of an intact homolog in a third species. Using this procedure, we identified around a hundred human-specific mutations, which have not been reported previously. Possible functional influence of the mutation on each gene will be discussed. We propose that inactivation or modification of genes is a part of the normal process of induction and facilitation of certain phenotypic traits in the human.