Functional impact of the human mobilome

Timothy D Babatz ¹^,²,
Kathleen H Burns ¹^,²^,³^,⁴^,

¹ McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, United States
² High Throughput Biology Center, Johns Hopkins University School of Medicine, Baltimore, MD, United States
³ Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, United States
⁴ The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, United States

Available online 22 March 2013

http://dx.doi.org/10.1016/j.gde.2013.02.007, How to Cite or Link Using DOI

The human genome is replete with interspersed repetitive sequences derived from the propagation of mobile DNA elements. Three families of human retrotransposons remain active today: LINE1, Alu, and SVA elements. Since 1988, de novo insertions at previously recognized disease loci have been shown to generate highly penetrant alleles in Mendelian disorders. Only recently has the extent of germline-transmitted retrotransposon insertion polymorphism (RIP) in human populations been fully realized. Also exciting are recent studies of somatic retrotransposition in human tissues and reports of tumor-specific insertions, suggesting roles in tissue heterogeneity and tumorigenesis. Here we discuss mobile elements in human disease with an emphasis on exciting developments from the last several years.