한빛사논문
- 조회3,882
Chuna Kim1,2,6, Jun Kim2,3,6, Sunghyun Kim1,4,6, Daniel E. Cook5, Kathryn S. Evans5, Erik C. Andersen5 and Junho Lee 1,2,3,*
1 Institute of Molecular Biology and Genetics, Seoul National University, Seoul, Korea 08826;
2 Department of Biological Sciences, Seoul National University, Seoul, Korea 08826;
3 Research Institute of Basic Sciences, Seoul National University, Seoul, Korea 08826;
4 Department of Molecular and Computational Biology, University of Southern California, Los Angeles, California 90089, USA;
5 Department of Molecular Biosciences, Northwestern University, Evanston, Illinois 60208, USA
6 These authors contributed equally to this work.
*Corresponding author
Abstract
Long-read sequencing technologies have contributed greatly to comparative genomics among species and can also be applied tostudy genomics within a species. In this study, to determine how substantial genomic changes are generated and tolerated withina species, we sequenced a C. elegans strain, CB4856, which is one of the most genetically divergent strains compared to the N2 reference strain. For this comparison,we used the Pacific Biosciences (PacBio) RSII platform (80×, N50 read length 11.8 kb) and generated de novo genome assemblyto the level of pseudochromosomes containing 76 contigs (N50 contig = 2.8 Mb). We identified structural variations that affectedas many as 2694 genes, most of which are at chromosome arms. Subtelomeric regions contained the most extensive genomic rearrangements,which even created new subtelomeres in some cases. The subtelomere structure of Chromosome VR implies that ancestral telomeredamage was repaired by alternative lengthening of telomeres even in the presence of a functional telomerase gene and thata new subtelomere was formed by break-induced replication. Our study demonstrates that substantial genomic changes includingstructural variations and new subtelomeres can be tolerated within a species, and that these changes may accumulate geneticdiversity within a species.
논문정보
- Research article
- 2019년 05월 (BRIC 등록일 2019-05-29)
- 국내(교신)+국외 연구진
- 생명과학 > 세포생물학
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