서울대학교 생물정보연구소와 생물정보학 협동과정 공동 주최로 특별 세미나를 아래와 같이 열고자 하오니,　많은 참여 바랍니다.

일시: 2016년　10월　26일 수요일 오전　11시

연사:　주영석　(한국과학기술원 의과학대학원)

장소:　서울대학교　25동　411호

TITLE

Somatic mutations reveal asymmetric cellular dynamics in the early human embryo

ABSTRACT

Somatic cells acquire mutations throughout the course of an individual’s life. Mutations occurring early in embryogenesis will often be present in a substantial proportion of, but not all, cells in the post-natal human and thus have particular characteristics and impact. Depending upon their location in the genome and the proportion of cells they are present in, these mosaic mutations can cause a wide range of genetic disease syndromes and predispose to cancer. They have a high chance of being transmitted to offspring as de novo germline mutations and, in principle, can provide insights into early human embryonic cell lineages and their contributions to adult tissues. Although it is known that gross chromosomal abnormalities are remarkably common in early human embryos our understanding of early embryonic somatic mutations is very limited. Here, we use whole genome sequences of adult normal blood from 241 individuals to identify 163 early embryonic mutations. We estimate that approximately three base substitution mutations occur per cell per cell-doubling in early human embryogenesis and these are mainly attributable to two known mutational signatures. We used the mutations to reconstruct developmental lineages of adult cells and demonstrate that the two daughter cells of many early embryonic cell doublings contribute asymmetrically to adult tissues at an approximately 2:1 ratio. This study therefore provides insights into the mutation rates, the mutational processes and the developmental outcomes of cell dynamics operative during early human embryogenesis.

RESEARCH　EXPERIENCE　 　　

Assistant Professor 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 2015.10-present

Graduate School of Medical Sciences and Engineering, KAIST, Daejeon, Korea

Postdoctoral Research　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 2013-2015

Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, UK

Postdoctoral fellow, Advisor: Prof. Mike Stratton & Dr. Peter Campbell

Postdoctoral Research　(Substitution of mandatory military service)　 　 　 　 　 　 　　2010-2013

Researcher, Life Science Institute, Macrogen Inc., Korea

EDUCATION AND　TRAINING

Seoul National University College of Medicine, Seoul, Republic of Korea　 　 　 　 　 　2007-2010

Ph.D. in Biochemistry and Medical Genomics (Advisor: Prof. Jeong-Sun Seo)

Seoul National University College of Medicine, Seoul, Republic of Korea 　 　 　 　 　　2001-2007

M.D. (B.S in Medicine)

SELECTED　PUBLICATIONS

Young Seok Ju, Intracellular mitochondrial DNA transfers to the nucleus in human cancer.　Current Opinion in Genetics & Development　21(38). (2016)

Young Seok Ju, Jose Tubio, William Mifsud, Beiyuan Fu, Helen Davis　et al., Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells.　Genome Research　25(6). (2015)

Young Seok Ju, Ludmil Alexandrov, Moritz Gerstung, Inigo Martincorena, Serena Nik-zainal　et al., Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer.　eLife　2014;10.7554/eLife.02935 (2014)

Jose Tubio, Yilong Li,　YoungSeokJu, Inigo Marticorena, Susanna Cooke　et al., Extensive transduction of nonrepetitive DNA mediated by L1 retrotransposition in cancer genomes.　Science　345(6196):1251343 (2014)

Jeong-Sun Seo*,　YoungSeokJu*, Won-Chul Lee*, Jong-Yeon Shin, June Koo Lee　et al., The transcriptional landscape and mutational profile of lung adenocarcinoma.　Genome Research　22(11). (2012) (*Co-first author)

Young Seok Ju, Won-Chul Lee, Jong-Yeon Shin, Seungbok Lee, Thomas Bleazard　et al., A transforming KIF5B and RET gene fusion in lung adenocarcinoma revealed from whole-genome and transcriptome sequencing.　Genome Research　22(3). (2012)

Dongwan Hong*, Sung-Soo Park*,　YoungSeokJu*, Sheehyun Kim, Jong-Yeon Shin　et al., TIARA: a database for accurate analysis of multiple personal genomes based on cross-technology.　Nucleic Acids Research　39(Database issue) (2011) (*Co-first author)

Young Seok Ju, Jong-Il Kim, Sheehyun Kim, Dongwan Hong, Hansoo Park　et al., Extensive genomic and transcriptional diversity identified through massively parallel DNA and RNA sequencing of eighteen Korean individuals.　Nature Genetics　43(8). (2011)

Hansoo Park*, Jong-Il Kim*,　YoungSeokJu*, Omer Gokcumen, Ryan Mills　et al., Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing.　Nature Genetics　42(5). (2010) (*Co-first author)

Young Seok Ju, Dongwan Hong, Sheehyun Kim, Sung-Soo Park, Sujung Kim　et al., Reference-unbiased copy number variant analysis using CGH microarrays.　Nucleic Acids Research　38(20) (2010)

Jong-Il Kim*,　YoungSeokJu*, Hansoo Park, Sheehyun Kim, Seonwook Lee　et al., A highly annotated whole-genome sequence of a Korean individual.　Nature　460 (7258). (2009) (*Co-first author)

Young Seok Ju, Hansoo Park, Mi Kyeong Lee, Jong-Il Kim, Joohon Sung　et al., A genome-wide Asian genetic map and ethnic comparison: the GENDISCAN study.　BMC Genomics　9:554 (2008)

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