Functional impact of the human mobilome

Timothy D. Babatz, Kathleen H. Burns

Research output: Contribution to journalReview articlepeer-review

19 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)264-270
Number of pages7
JournalCurrent Opinion in Genetics and Development
Issue number3
StatePublished - Jun 2013
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Developmental Biology


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