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Category CDBセミナー
Date and Time 2017-02-15 11:00 - 12:00
Venue Seminar Room A7F
Speaker Dr. Igor Kondrychyn
Affiliation National Centre for Biological Sciences, India
Title Elucidating the functions of an autism-related gene in nervous system development
Host Li Kun Phng
Summary Autism is a neurodevelopmental disorder characterized by deficits in communication and social interactions, and by restricted and repetitive behavior. It presents as a wide spec-trum of phenotypes. The genetic and neuroanatomical defects that cause autistic disor-ders in human are largely unknown. Over the years, studies examining individual pa-tients have produced a myriad of new candidate genes.

The autism susceptibility candidate 2 (AUTS2) gene is associated with multiple neurolog-ical diseases including autism, and has been implicated as an important gene in human-specific evolution. In addition, a non-coding single nucleotide polymorphism within AUTS2 has been associated with alcoholism, heroin addiction, schizophrenia and sui-cide. Although its function remains largely unknown, recently, it has been shown that AUTS2 plays a role in modulating Polycomb repressive complex activity and in controlling neuronal migration.

During evolution teleost genomes experienced additional round of whole genome dupli-cation. As a result, the zebrafish genome contains two auts2 paralogs, auts2a and auts2b. To dissect the functional role of these genes during development and in adult, we have used TALEN system to target auts2a and auts2b genes in the first place, and demonstrat-ed locus-specific somatic and germ-line mutations. In my talk, I will discuss the results and progress in understanding the function of auts2 genes in nervous system develop-ment. Also, in the beginning of my presentation I will briefly present data from my PhD project, the establishing of Tol2 transposon-based enhancer trap method in zebrafish and use of zebrafish transgenics to analyse roof plate morphogenesis in the developing spi-nal cord.
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