Transposable elements in human genetic disease

Lindsay M. Payer, Kathleen H. Burns

Research output: Contribution to journalReview articlepeer-review

42 Scopus citations


Transposable elements are abundant in the human genome, and great strides have been made in pinpointing variations in these repetitive sequences using whole-genome sequencing. Now, the focus is shifting to understanding their expression and regulation, and the functional consequences of their insertion and retention in the genome over time. Whereas transposable element insertions have been known to cause human genetic disease since the 1980s, the scope of their contributions to heritable phenotypes is now starting to be uncovered. Here, we review the many ways human retrotransposons contribute to genome function, their dysregulation in diseases including cancer and how they affect genetic disease.

Original languageEnglish (US)
Pages (from-to)760-772
Number of pages13
JournalNature Reviews Genetics
Issue number12
StatePublished - Dec 1 2019

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


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