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    The Role of Repetitive DNA Elements in the Development and Progression of Human Disease

    Submission Deadline: April 10, 2022

    Guest Editors

    Prof. Margaret M. DeAngelis E-Mail

    Professor, Department of Ophthalmology, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, USA


    Prof. Tamim Shaikh E-Mail

    Professor, Department of Pediatrics, University of Colorado School of Medicine, Aurora, USA


    About the Special Issue

    A very large fraction of the human genome consists of repetitive DNA elements, that have greatly impacted the structure and evolution of the genome. These repetitive elements have also played an important role in disease etiology via insertional mutagenesis and aberrant recombination, which can further lead to rearrangements including deletions, duplications, translocations, and inversions, collectively referred to as structural variations. The ongoing advances in sequencing technologies are now enabling the discovery of an increasing number of complex structural variations underlying human disease, resulting from repetitive DNA element-mediated rearrangements. Thus, we would like this special issue to focus on this area of human disease genomics which remains under-appreciated.

    This special issue will include primary research papers and reviews. The content will range from a basic primer of DNA repetitive elements and what they are, to their role in disease mechanism, with a primary focus on neurodegenerative disease and neurodevelopmental diseases, and potential avenues for targeted therapies in ameliorating human suffering.

    Keywords: copy number alteration, copy number variant, ALU, LINEs, SINEs, Segmental Duplications, Simple Sequence Repeats (SSRs), repetitive elements, duplication, inversion, translocation, deletion

    Call for Papers

    Published Articles

    Open Access
    Review
    Low copy repeats in the genome: from neglected to respected
    DNA paralogs that have a length of at least 1 kilobase (kb) and are duplicated with a sequence identity of over 90% are classified as low copy repeats (LCRs) or segmental duplications (SDs). They co [...] Read more.

    DNA paralogs that have a length of at least 1 kilobase (kb) and are duplicated with a sequence identity of over 90% are classified as low copy repeats (LCRs) or segmental duplications (SDs). They constitute 6.6% of the genome and are clustering in specific genomic loci. Due to the high sequence homology between these duplicated regions, they can misalign during meiosis resulting in non-allelic homologous recombination (NAHR) and leading to structural variation such as deletions, duplications, inversions, and translocations. When such rearrangements result in a clinical phenotype, they are categorized as a genomic disorder. The presence of multiple copies of larger genomic segments offers opportunities for evolution. First, the creation of new genes in the human lineage will lead to human-specific traits and adaptation. Second, LCR variation between human populations can give rise to phenotypic variability. Hence, the rearrangement predisposition associated with LCRs should be interpreted in the context of the evolutionary advantages.

    Lisanne Vervoort, Joris R. Vermeesch
    Published: April 25, 2023 Explor Med. 2023;4:166–175
    DOI: https://doi.org/10.37349/emed.2023.00131
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    DNA paralogs that have a length of at least 1 kilobase (kb) and are duplicated with a sequence identity of over 90% are classified as low copy repeats (LCRs) or segmental duplications (SDs). They constitute 6.6% of the genome and are clustering in specific genomic loci. Due to the high sequence homology between these duplicated regions, they can misalign during meiosis resulting in non-allelic homologous recombination (NAHR) and leading to structural variation such as deletions, duplications, inversions, and translocations. When such rearrangements result in a clinical phenotype, they are categorized as a genomic disorder. The presence of multiple copies of larger genomic segments offers opportunities for evolution. First, the creation of new genes in the human lineage will lead to human-specific traits and adaptation. Second, LCR variation between human populations can give rise to phenotypic variability. Hence, the rearrangement predisposition associated with LCRs should be interpreted in the context of the evolutionary advantages.

    Open Access
    Review
    Involvement of retroelements in the autoimmune response in humans
    Retroelements are mobile genomic components requiring reverse transcription into an RNA intermediate and then synthesis of complementary DNA for transposition. Human genome contains a vast amount of retroelements including retrotr [...] Read more.

    Retroelements are mobile genomic components requiring an RNA intermediate which is reverse-transcribed into complementary DNA for transposition. Human genome contains a vast amount of retroelements including retrotransposons and endogenous retroviruses. These elements are categorized according to presence or absence of long terminal repeats, LTRs or non-LTRs, as well as autonomous and non-autonomous according to involvement of reverse transcriptase. The retroelements have been accumulated in mammalian genomes over all evolutionary times through vertical transmission, and many of them were inactivated through accumulation of mutations. However, the retroelements entered into genome within the last 200,000 years are mostly functional. Some of the active retroelements are associated with varying autoimmune diseases because anti-retroelement antibodies might cross-react with other proteins in the human body. For instance, autoimmunity and inflammation could be stimulated by increased expression of long interspersed element 1 (LINE-1 or L1) or decreased L1 degradation. Different regulation of L1 expression might be related to the genetic and sex-related variations or environmental factors. Activation of retroelements is also controlled by epigenetic silencing mechanisms such as histone modification. Elevated levels of L1 retroelements could trigger the production of type I interferon, a crucial innate defense mechanism in mammals against viruses, and systemic autoimmune response is induced. Loss-of-function in some deoxyribonucleases (DNases) such as three prime repair exonuclease 1 that degrades reverse-transcribed DNA is also related to autoimmune diseases. Additionally, human endogenous retroviruses also play a role in autoimmune diseases. Involvement of retroelements in autoimmune disorders is exemplified with three diseases, i.e. systemic lupus erythematosus, Aicardi–Goutières syndrome, and multiple sclerosis.

    Sezer Okay
    Published: June 24, 2022 Explor Med. 2022;3:280–288
    DOI: https://doi.org/10.37349/emed.2022.00092
    Full Text
    PDF
    View:526
    Download:34
    Times Cited: 0

    Retroelements are mobile genomic components requiring an RNA intermediate which is reverse-transcribed into complementary DNA for transposition. Human genome contains a vast amount of retroelements including retrotransposons and endogenous retroviruses. These elements are categorized according to presence or absence of long terminal repeats, LTRs or non-LTRs, as well as autonomous and non-autonomous according to involvement of reverse transcriptase. The retroelements have been accumulated in mammalian genomes over all evolutionary times through vertical transmission, and many of them were inactivated through accumulation of mutations. However, the retroelements entered into genome within the last 200,000 years are mostly functional. Some of the active retroelements are associated with varying autoimmune diseases because anti-retroelement antibodies might cross-react with other proteins in the human body. For instance, autoimmunity and inflammation could be stimulated by increased expression of long interspersed element 1 (LINE-1 or L1) or decreased L1 degradation. Different regulation of L1 expression might be related to the genetic and sex-related variations or environmental factors. Activation of retroelements is also controlled by epigenetic silencing mechanisms such as histone modification. Elevated levels of L1 retroelements could trigger the production of type I interferon, a crucial innate defense mechanism in mammals against viruses, and systemic autoimmune response is induced. Loss-of-function in some deoxyribonucleases (DNases) such as three prime repair exonuclease 1 that degrades reverse-transcribed DNA is also related to autoimmune diseases. Additionally, human endogenous retroviruses also play a role in autoimmune diseases. Involvement of retroelements in autoimmune disorders is exemplified with three diseases, i.e. systemic lupus erythematosus, Aicardi–Goutières syndrome, and multiple sclerosis.

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