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PRPS-Associated Disorders and the Drosophila Model of Arts Syndrome

Department of Biology, Developmental Biology Research Initiative, McGill University, Montreal, QC H3A 1B1, Canada
Institute de Recherches Cliniques de Montréal (IRCM), Montreal, QC H2W 1R7, Canada
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2020, 21(14), 4824;
Received: 1 June 2020 / Revised: 5 July 2020 / Accepted: 5 July 2020 / Published: 8 July 2020
(This article belongs to the Special Issue Role of Drosophila in Human Disease Research)
While a plethora of genetic techniques have been developed over the past century, modifying specific sequences of the fruit fly genome has been a difficult, if not impossible task. clustered regularly interspaced short palindromic repeat (CRISPR)/Cas9 truly redefined molecular genetics and provided new tools to model human diseases in Drosophila melanogaster. This is particularly true for genes whose protein sequences are highly conserved. Phosphoribosyl pyrophosphate synthetase (PRPS) is a rate-limiting enzyme in nucleotide metabolism whose missense mutations are found in several neurological disorders, including Arts syndrome. In addition, PRPS is deregulated in cancer, particularly those that become resistant to cancer therapy. Notably, Drosophila PRPS shares about 90% protein sequence identity with its human orthologs, making it an ideal gene to study via CRISPR/Cas9. In this review, we will summarize recent findings on PRPS mutations in human diseases including cancer and on the molecular mechanisms by which PRPS activity is regulated. We will also discuss potential applications of Drosophila CRISPR/Cas9 to model PRPS-dependent disorders and other metabolic diseases that are associated with nucleotide metabolism. View Full-Text
Keywords: Drosophila CRISPR; PRPS-associated disease; metabolic disorders; neurological disorders Drosophila CRISPR; PRPS-associated disease; metabolic disorders; neurological disorders
MDPI and ACS Style

Delos Santos, K.; Kwon, E.; Moon, N.-S. PRPS-Associated Disorders and the Drosophila Model of Arts Syndrome. Int. J. Mol. Sci. 2020, 21, 4824.

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