Integrative Biology Group, Universidad Austral de Chile, Valdivia, Chile.
Instituto de Ciencias Ambientales y Evolutivas, Facultad de Ciencias, Universidad Austral de Chile, Valdivia, Chile.
Sci Rep. 2022 Mar 9;12(1):3823. doi: 10.1038/s41598-022-07908-8.
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.
在发现 TAR DNA 结合蛋白 (TARDBP) 基因的多个致病突变后，该基因变得相关。与文献中发现的大量研究相比，它缺乏进化历史。本研究调查了与灵长类动物 TARDBP 基因反转录转座相关的进化动态。我们鉴定了新的反转录假基因，这些假基因可能起源于人科、猫科和灵长目动物的祖先，即栖息在马达加斯加的栉趾鼠亚目。我们还在菲律宾眼镜猴、玻利维亚松鼠猴、卷尾猴和长尾猕猴中发现了种特异性的反转录假基因。TARDBP 基因的反转录假拷贝与可能表达的长非编码 RNA 重叠的鉴定为研究 TARDBP 基因调控开辟了新途径，特别是在与 TARDBP 相关的病理学背景下。
