Abstract
The TAR DNA Binding Protein (TARDBP) gene has become relevant after the discovery of its several pathogenic mutations. The lack of evolutionary history is in contrast to the amount of studies found in the literature. This study investigated the evolutionary dynamics associated with the retrotransposition of the TARDBP gene in primates. We identified novel retropseudogenes that likely originated in the ancestors of anthropoids, catarrhines, and lemuriformes, i.e. the strepsirrhine clade that inhabit Madagascar. We also found species-specific retropseudogenes in the Philippine tarsier, Bolivian squirrel monkey, capuchin monkey and vervet. The identification of a retropseudocopy of the TARDBP gene overlapping a lncRNA that is potentially expressed opens a new avenue to investigate TARDBP gene regulation, especially in the context of TARDBP associated pathologies.
Highlights
The TAR DNA Binding Protein (TARDBP) gene has become relevant after the discovery of its several pathogenic mutations
Multiple retropseudogenes lineages characterize the evolution of the TARDBP gene in pri‐ mates
According to our phylogenetic and synteny analyses, we identified retropseudogenes of the TAR-DBP gene that originated at different times during the evolution of primates
Summary
The TAR DNA Binding Protein (TARDBP) gene has become relevant after the discovery of its several pathogenic mutations. This study investigated the evolutionary dynamics associated with the retrotransposition of the TARDBP gene in primates. In the human genome, a number of retrocopies overlap with long noncoding RNAs (lncRNAs)[7], which are regulatory noncoding RNAs of > 200 nucleotides. LncRNAs can establish specific interactions with nucleic acids and proteins, acting in diverse fashions as critical regulators of gene expression in several biological processes, including pathological conditions such as cancer and neurodegenerative d isorders[9]. Identifying the presence of retrocopies/ retropseudogenes is an important piece of information to have a complete picture of the evolution of any particular gene, and is necessary to fully understand human health. Under physiological conditions, TDP-43 mainly localizes in the nucleus, but in neurons and glial cells of ALS and FTD patients it shuttles and accumulates in the cytoplasm where eventually aggregates and contribute to the onset and progression of these diseases[18–22]
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