Warning SINEs: Alu elements, evolution of the human brain, and the spectrum of neurological disease
Alu elements are a highly successful family of primate-specific retrotransposons that have fundamentally shaped primate evolution, including the evolution of our own species. Alu s play critical roles in the formation of neurological networks and the epigenetic regulation of biochemical processes th...
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Published in | Chromosome research Vol. 26; no. 1-2; pp. 93 - 111 |
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Main Authors | , , , , |
Format | Journal Article |
Language | English |
Published |
Dordrecht
Springer Netherlands
01.03.2018
Springer Nature B.V |
Subjects | |
Online Access | Get full text |
ISSN | 0967-3849 1573-6849 1573-6849 |
DOI | 10.1007/s10577-018-9573-4 |
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Abstract | Alu
elements are a highly successful family of primate-specific retrotransposons that have fundamentally shaped primate evolution, including the evolution of our own species.
Alu
s play critical roles in the formation of neurological networks and the epigenetic regulation of biochemical processes throughout the central nervous system (CNS), and thus are hypothesized to have contributed to the origin of human cognition. Despite the benefits that
Alus
provide, deleterious
Alu
activity is associated with a number of neurological and neurodegenerative disorders. In particular, neurological networks are potentially vulnerable to the epigenetic dysregulation of
Alu
elements operating across the suite of nuclear-encoded mitochondrial genes that are critical for both mitochondrial and CNS function. Here, we highlight the beneficial neurological aspects of
Alu
elements as well as their potential to cause disease by disrupting key cellular processes across the CNS. We identify at least 37 neurological and neurodegenerative disorders wherein deleterious
Alu
activity has been implicated as a contributing factor for the manifestation of disease, and for many of these disorders, this activity is operating on genes that are essential for proper mitochondrial function. We conclude that the epigenetic dysregulation of
Alu
elements can ultimately disrupt mitochondrial homeostasis within the CNS. This mechanism is a plausible source for the incipient neuronal stress that is consistently observed across a spectrum of sporadic neurological and neurodegenerative disorders. |
---|---|
AbstractList | Alu elements are a highly successful family of primate-specific retrotransposons that have fundamentally shaped primate evolution, including the evolution of our own species. Alus play critical roles in the formation of neurological networks and the epigenetic regulation of biochemical processes throughout the central nervous system (CNS), and thus are hypothesized to have contributed to the origin of human cognition. Despite the benefits that Alus provide, deleterious Alu activity is associated with a number of neurological and neurodegenerative disorders. In particular, neurological networks are potentially vulnerable to the epigenetic dysregulation of Alu elements operating across the suite of nuclear-encoded mitochondrial genes that are critical for both mitochondrial and CNS function. Here, we highlight the beneficial neurological aspects of Alu elements as well as their potential to cause disease by disrupting key cellular processes across the CNS. We identify at least 37 neurological and neurodegenerative disorders wherein deleterious Alu activity has been implicated as a contributing factor for the manifestation of disease, and for many of these disorders, this activity is operating on genes that are essential for proper mitochondrial function. We conclude that the epigenetic dysregulation of Alu elements can ultimately disrupt mitochondrial homeostasis within the CNS. This mechanism is a plausible source for the incipient neuronal stress that is consistently observed across a spectrum of sporadic neurological and neurodegenerative disorders.Alu elements are a highly successful family of primate-specific retrotransposons that have fundamentally shaped primate evolution, including the evolution of our own species. Alus play critical roles in the formation of neurological networks and the epigenetic regulation of biochemical processes throughout the central nervous system (CNS), and thus are hypothesized to have contributed to the origin of human cognition. Despite the benefits that Alus provide, deleterious Alu activity is associated with a number of neurological and neurodegenerative disorders. In particular, neurological networks are potentially vulnerable to the epigenetic dysregulation of Alu elements operating across the suite of nuclear-encoded mitochondrial genes that are critical for both mitochondrial and CNS function. Here, we highlight the beneficial neurological aspects of Alu elements as well as their potential to cause disease by disrupting key cellular processes across the CNS. We identify at least 37 neurological and neurodegenerative disorders wherein deleterious Alu activity has been implicated as a contributing factor for the manifestation of disease, and for many of these disorders, this activity is operating on genes that are essential for proper mitochondrial function. We conclude that the epigenetic dysregulation of Alu elements can ultimately disrupt mitochondrial homeostasis within the CNS. This mechanism is a plausible source for the incipient neuronal stress that is consistently observed across a spectrum of sporadic neurological and neurodegenerative disorders. Alu elements are a highly successful family of primate-specific retrotransposons that have fundamentally shaped primate evolution, including the evolution of our own species. Alu s play critical roles in the formation of neurological networks and the epigenetic regulation of biochemical processes throughout the central nervous system (CNS), and thus are hypothesized to have contributed to the origin of human cognition. Despite the benefits that Alus provide, deleterious Alu activity is associated with a number of neurological and neurodegenerative disorders. In particular, neurological networks are potentially vulnerable to the epigenetic dysregulation of Alu elements operating across the suite of nuclear-encoded mitochondrial genes that are critical for both mitochondrial and CNS function. Here, we highlight the beneficial neurological aspects of Alu elements as well as their potential to cause disease by disrupting key cellular processes across the CNS. We identify at least 37 neurological and neurodegenerative disorders wherein deleterious Alu activity has been implicated as a contributing factor for the manifestation of disease, and for many of these disorders, this activity is operating on genes that are essential for proper mitochondrial function. We conclude that the epigenetic dysregulation of Alu elements can ultimately disrupt mitochondrial homeostasis within the CNS. This mechanism is a plausible source for the incipient neuronal stress that is consistently observed across a spectrum of sporadic neurological and neurodegenerative disorders. Alu elements are a highly successful family of primate-specific retrotransposons that have fundamentally shaped primate evolution, including the evolution of our own species. Alus play critical roles in the formation of neurological networks and the epigenetic regulation of biochemical processes throughout the central nervous system (CNS), and thus are hypothesized to have contributed to the origin of human cognition. Despite the benefits that Alus provide, deleterious Alu activity is associated with a number of neurological and neurodegenerative disorders. In particular, neurological networks are potentially vulnerable to the epigenetic dysregulation of Alu elements operating across the suite of nuclear-encoded mitochondrial genes that are critical for both mitochondrial and CNS function. Here, we highlight the beneficial neurological aspects of Alu elements as well as their potential to cause disease by disrupting key cellular processes across the CNS. We identify at least 37 neurological and neurodegenerative disorders wherein deleterious Alu activity has been implicated as a contributing factor for the manifestation of disease, and for many of these disorders, this activity is operating on genes that are essential for proper mitochondrial function. We conclude that the epigenetic dysregulation of Alu elements can ultimately disrupt mitochondrial homeostasis within the CNS. This mechanism is a plausible source for the incipient neuronal stress that is consistently observed across a spectrum of sporadic neurological and neurodegenerative disorders. |
Author | Yoder, Anne D. Larsen, Roxanne J. Saunders, Ann M. Larsen, Peter A. Hunnicutt, Kelsie E. |
Author_xml | – sequence: 1 givenname: Peter A. surname: Larsen fullname: Larsen, Peter A. email: peter.larsen@duke.edu organization: Department of Biology, Duke University, Duke Lemur Center, Duke University, Department of Biology, Duke University – sequence: 2 givenname: Kelsie E. surname: Hunnicutt fullname: Hunnicutt, Kelsie E. organization: Department of Biology, Duke University – sequence: 3 givenname: Roxanne J. surname: Larsen fullname: Larsen, Roxanne J. organization: Duke University School of Medicine, Duke University – sequence: 4 givenname: Anne D. surname: Yoder fullname: Yoder, Anne D. organization: Department of Biology, Duke University, Duke Lemur Center, Duke University – sequence: 5 givenname: Ann M. surname: Saunders fullname: Saunders, Ann M. organization: Zinfandel Pharmaceuticals Inc |
BackLink | https://www.ncbi.nlm.nih.gov/pubmed/29460123$$D View this record in MEDLINE/PubMed |
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ISSN | 0967-3849 1573-6849 |
IngestDate | Thu Aug 21 18:01:37 EDT 2025 Fri Sep 05 06:49:16 EDT 2025 Fri Sep 05 10:43:32 EDT 2025 Fri Jul 25 08:53:17 EDT 2025 Mon Jul 21 05:53:28 EDT 2025 Thu Apr 24 23:06:08 EDT 2025 Tue Jul 01 02:07:17 EDT 2025 Fri Feb 21 02:38:47 EST 2025 |
IsDoiOpenAccess | true |
IsOpenAccess | true |
IsPeerReviewed | true |
IsScholarly | true |
Issue | 1-2 |
Keywords | Brain connectome A-to-I editing Mitochondria Alzheimer’s disease Epigenetics Mosaic brain Parkinson’s disease |
Language | English |
License | Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. |
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Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 ObjectType-Review-3 content type line 23 Responsible Editor: Beth Sullivan. |
OpenAccessLink | https://doi.org/10.1007/s10577-018-9573-4 |
PMID | 29460123 |
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PageCount | 19 |
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PublicationCentury | 2000 |
PublicationDate | 2018-03-01 |
PublicationDateYYYYMMDD | 2018-03-01 |
PublicationDate_xml | – month: 03 year: 2018 text: 2018-03-01 day: 01 |
PublicationDecade | 2010 |
PublicationPlace | Dordrecht |
PublicationPlace_xml | – name: Dordrecht – name: Netherlands |
PublicationSubtitle | Chromatin, Chromosomes and Genomes |
PublicationTitle | Chromosome research |
PublicationTitleAbbrev | Chromosome Res |
PublicationTitleAlternate | Chromosome Res |
PublicationYear | 2018 |
Publisher | Springer Netherlands Springer Nature B.V |
Publisher_xml | – name: Springer Netherlands – name: Springer Nature B.V |
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elements are a highly successful family of primate-specific retrotransposons that have fundamentally shaped primate evolution, including the evolution of... Alu elements are a highly successful family of primate-specific retrotransposons that have fundamentally shaped primate evolution, including the evolution of... |
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SubjectTerms | Alu elements Alu Elements - physiology Animal Genetics and Genomics biochemical pathways Biological Evolution Biomedical and Life Sciences brain Brain - physiology Cell Biology Central nervous system Chemical elements Cognition Disease Epigenetics Evolution Genome, Human Homeostasis Human Genetics Humans Life Sciences Mitochondria Mitochondrial DNA mitochondrial genes Nervous System Diseases - genetics Neurodegenerative diseases Neurogenesis Neurological diseases Neurological disorders neurons Original Original Article Parkinson's disease Plant Genetics and Genomics Retroelements retrotransposons Spectrum analysis |
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Title | Warning SINEs: Alu elements, evolution of the human brain, and the spectrum of neurological disease |
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