Transposable elements in human genetic disease

Lindsay M. Payer, Kathleen H. Burns

Research output: Contribution to journalReview article

Abstract

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)
JournalNature Reviews Genetics
DOIs
StateAccepted/In press - Jan 1 2019

Fingerprint

Inborn Genetic Diseases
DNA Transposable Elements
Medical Genetics
Genome
Retroelements
Nucleic Acid Repetitive Sequences
Human Genome
Phenotype
Neoplasms

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Cite this

Transposable elements in human genetic disease. / Payer, Lindsay M.; Burns, Kathleen H.

In: Nature Reviews Genetics, 01.01.2019.

Research output: Contribution to journalReview article

@article{4e8892fe82cd44e8922a1ffb2587d633,
title = "Transposable elements in human genetic disease",
abstract = "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.",
author = "Payer, {Lindsay M.} and Burns, {Kathleen H.}",
year = "2019",
month = "1",
day = "1",
doi = "10.1038/s41576-019-0165-8",
language = "English (US)",
journal = "Nature Reviews Genetics",
issn = "1471-0056",
publisher = "Nature Publishing Group",

}

TY - JOUR

T1 - Transposable elements in human genetic disease

AU - Payer, Lindsay M.

AU - Burns, Kathleen H.

PY - 2019/1/1

Y1 - 2019/1/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85073920150&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85073920150&partnerID=8YFLogxK

U2 - 10.1038/s41576-019-0165-8

DO - 10.1038/s41576-019-0165-8

M3 - Review article

C2 - 31515540

AN - SCOPUS:85073920150

JO - Nature Reviews Genetics

JF - Nature Reviews Genetics

SN - 1471-0056

ER -