Московский семинар по биоинформатике - 17 сентября 2012

Московский семинар по биоинформатике
Понедельник, 17 сентября 2012, 18.00
МГУ, Лаб. корпус Б (факультет биоинженерии и биоинформатики), к. 221.

Петр Харченко
Гарвардский университет

Поиск соматических ретротранспозиций в раковых геномах человека

Moscow Seminar on Bioinformatics
Monday, September 17th, 2012, 6PM
Moscow State University, Lab. Bldg. B (Faculty of Bioengineering and Bioinformatics), room 221.

Peter Kharchenko
Harvard University

Detecting somatic retrotranspositions in human cancers

Our genomes contain millions of retrotransposons, some of which have maintained their ability copy and insert themselves elsewhere in the genome via RNA intermediates. Such stray insertions can disrupt genes or other genomic elements necessary for proper cellular function. Our cells normally suppress retrotransposon activity through a variety of means, but it remains unclear whether new TE insertions are generated in tissues stricken by disease. In cancer, the disruption of cellular mechanisms that normally suppress TE activity may facilitate mutagenic retrotranspositions. To test this, we developed a computational method for identifying novel TE insertions with single-nucleotide resolution from short-read sequencing data. The method was applied to 43 high-coverage whole-genome sequencing datasets from five cancer types. We identified 194 high-confidence somatic TE insertions, as well as thousands of polymorphic TE insertions in matched normal genomes. Somatic insertions were present in epithelial tumors but not in blood or brain cancers. We show several lines of evidence suggesting that these events may be drivers of cancer rather than bystanders, and implicate disruption of DNA methylation as a likely factor contributing to the occurrence of such insertions. Overall, this work describes a potentially causative role that retrotransposition events play in cancer.


Объявление по постдоковских позициях в лаборатории П.Харченко: http://pklab.med.harvard.edu/positions.html