Associate Professor Pathology McKusick-Nathans Institute of Genetic Medicine

Associate Professor

Pathology

McKusick-Nathans Institute of Genetic Medicine

RESEARCH OVERVIEW

Our research laboratory studies the roles mobile DNAs play in human disease. Our group was one of the first to develop a targeted method for amplifying mobile DNA insertion sites in the human genome, and we showed that these are a significant source of structural variation. Since that time, our group has continued to develop high throughput tools to characterize these understudied sequences in genomes and to describe the expression and genetic stability of interspersed repeats in normal and malignant tissues. We have developed a monoclonal antibody to one of the proteins encoded for by Long INterspersed Element-1 (LINE-1) and showed its aberrant expression in a wide breadth of human cancers. We have demonstrated acquired LINE-1 insertion events during the evolution of metastatic pancreatic ductal adenocarcinoma and other gastrointestinal tract tumors. We have major projects focused on studying functional consequences of inherited sequence variants, and exciting evidence that these predispose to cancer risk and other disease phenotypes. Our laboratory is using a combination of genome wide association study (GWAS) analyses, custom RNA-seq analyses, semi-high throughput gene expression reporter assays, and murine models to pursue this hypothesis.

Genetics, Genomics and Gene Regulation

Selected Publications:

Rodić N, Steranka JP, Makohon-Moore A, Moyer A, Shen P, Sharma R, Kohutek ZA, Huang CR, Ahn D, Mita P, Taylor MS, Barker NJ, Hruban RH, Iacobuzio-Donahue CA, Boeke JD, Burns KH. Retrotransposon insertions in the clonal evolution of pancreatic ductal adenocarcinoma. Nat Med. 2015 PubMed PMID: 26259033.

Rodić N, Sharma R, Sharma R, Zampella J, Dai L, Taylor MS, Hruban RH, Iacobuzio-Donahue CA, Maitra A, Torbenson MS, Goggins M, Shih IeM, Duffield AS, Montgomery EA, Gabrielson E, Netto GJ, Lotan TL, De Marzo AM, Westra W, Binder ZA, Orr BA, Gallia GL, Eberhart CG, Boeke JD, Harris CR, Burns KH. Long interspersed element-1 protein expression is a hallmark of many human cancers. Am J Pathol. 2014 PubMed PMID: 24607009.

Taylor MS, LaCava J, Mita P, Molloy KR, Huang CR, Li D, Adney EM, Jiang H, Burns KH, Chait BT, Rout MP, Boeke JD, Dai L. Affinity proteomics reveals human host factors implicated in discrete stages of LINE-1 retrotransposition. Cell. 2013 PubMed PMID: 24267889.

Burns KH, Boeke JD. Human transposon tectonics. Cell. 2012 PubMed PMID: 22579280.

Huang CR, Schneider AM, Lu Y, Niranjan T, Shen P, Robinson MA, Steranka JP, Valle D, Civin CI, Wang T, Wheelan SJ, Ji H, Boeke JD, Burns KH. Mobile interspersed repeats are major structural variants in the human genome. Cell. 2010 PubMed PMID: 20602999.

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