Diseases of the nERVous system: Retrotransposon activity in neurodegenerative disease

Oliver H. Tam, Lyle Ostrow, Molly Gale Hammell

Research output: Contribution to journalReview article

Abstract

Transposable Elements (TEs) are mobile genetic elements whose sequences constitute nearly half of the human genome. Each TE copy can be present in hundreds to thousands of locations within the genome, complicating the genetic and genomic studies of these highly repetitive sequences. The recent development of better tools for evaluating TE derived sequences in genomic studies has enabled an increasing appreciation for the contribution of TEs to human development and disease. While some TEs have contributed novel and beneficial host functions, this review will summarize the evidence for detrimental TE activity in neurodegenerative disorders. Much of the evidence for pathogenicity implicates endogenous retroviruses (ERVs), a subset of TEs that entered the genome by retroviral infections of germline cells in our evolutionary ancestors and have since been passed down as a substantial fraction of the human genome. Human specific ERVs (HERVs) represent some of the youngest ERVs in the genome, and thus are presumed to retain greater function and resultant pathogenic potential.

Original languageEnglish (US)
Article number32
JournalMobile DNA
Volume10
Issue number1
DOIs
StatePublished - Jul 26 2019

Fingerprint

Retroelements
DNA Transposable Elements
Nervous System Diseases
Neurodegenerative Diseases
Endogenous Retroviruses
Genome
Human Genome
Interspersed Repetitive Sequences
Nucleic Acid Repetitive Sequences
Human Development
Virulence
Infection

Keywords

  • Aicardi-Goutieres syndrome
  • Alzheimer's disease
  • Amyotrophic lateral sclerosis
  • Endogenous retroviruses
  • Multiple sclerosis
  • Neurodegenerative disease
  • Transposable elements

ASJC Scopus subject areas

  • Molecular Biology

Cite this

Diseases of the nERVous system : Retrotransposon activity in neurodegenerative disease. / Tam, Oliver H.; Ostrow, Lyle; Gale Hammell, Molly.

In: Mobile DNA, Vol. 10, No. 1, 32, 26.07.2019.

Research output: Contribution to journalReview article

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N2 - Transposable Elements (TEs) are mobile genetic elements whose sequences constitute nearly half of the human genome. Each TE copy can be present in hundreds to thousands of locations within the genome, complicating the genetic and genomic studies of these highly repetitive sequences. The recent development of better tools for evaluating TE derived sequences in genomic studies has enabled an increasing appreciation for the contribution of TEs to human development and disease. While some TEs have contributed novel and beneficial host functions, this review will summarize the evidence for detrimental TE activity in neurodegenerative disorders. Much of the evidence for pathogenicity implicates endogenous retroviruses (ERVs), a subset of TEs that entered the genome by retroviral infections of germline cells in our evolutionary ancestors and have since been passed down as a substantial fraction of the human genome. Human specific ERVs (HERVs) represent some of the youngest ERVs in the genome, and thus are presumed to retain greater function and resultant pathogenic potential.

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