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  • Oxford University Press (OUP)  (2)
  • 2020-2024  (2)
  • 1
    In: Brain Communications, Oxford University Press (OUP), Vol. 2, No. 2 ( 2020-07-01)
    Abstract: Severe acute respiratory syndrome coronavirus 2 first appeared in December 2019 in Wuhan, China, and developed into a worldwide pandemic within the following 3 months causing severe bilateral pneumonia (coronavirus disease 2019) with in part fatal outcomes. After first experiences and tentative strategies to face this new disease, several cases were published describing severe acute respiratory syndrome coronavirus 2 infection related to the onset of neurological complaints and diseases such as, for instance, anosmia, stroke or meningoencephalitis. Of note, there is still a controversy about whether or not there is a causative relation between severe acute respiratory syndrome coronavirus 2 and these neurological conditions. Other concerns, however, seem to be relevant as well. This includes not only the reluctance of patients with acute neurological complaints to report to the emergency department for fear of contracting severe acute respiratory syndrome coronavirus 2 but also the ethical and practical implications for neurology patients in everyday clinical routine. This paper aims to provide an overview of the currently available evidence for the occurrence of severe acute respiratory syndrome coronavirus 2 in the central and peripheral nervous system and the neurological diseases potentially involving this virus.
    Type of Medium: Online Resource
    ISSN: 2632-1297
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2020
    detail.hit.zdb_id: 3020013-1
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  • 2
    In: Molecular Biology and Evolution, Oxford University Press (OUP), Vol. 38, No. 2 ( 2021-01-23), p. 380-392
    Abstract: Mutations in cis-regulatory elements play important roles for phenotypic changes during evolution. Eye degeneration in the blind mole rat (BMR; Nannospalax galili) and other subterranean mammals is significantly associated with widespread divergence of eye regulatory elements, but the effect of these regulatory mutations on eye development and function has not been explored. Here, we investigate the effect of mutations observed in the BMR sequence of a conserved noncoding element upstream of Tdrd7, a pleiotropic gene required for lens development and spermatogenesis. We first show that this conserved element is a transcriptional repressor in lens cells and that the BMR sequence partially lost repressor activity. Next, we recapitulated evolutionary changes in this element by precisely replacing the endogenous regulatory element in a mouse line by the orthologous BMR sequence with CRISPR–Cas9. Strikingly, this repressor replacement caused a more than 2-fold upregulation of Tdrd7 in the developing lens; however, increased mRNA level does not result in a corresponding increase in TDRD7 protein nor an obvious lens phenotype, possibly explained by buffering at the posttranscriptional level. Our results are consistent with eye degeneration in subterranean mammals having a polygenic basis where many small-effect mutations in different eye-regulatory elements collectively contribute to phenotypic differences.
    Type of Medium: Online Resource
    ISSN: 1537-1719
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2021
    detail.hit.zdb_id: 2024221-9
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