4.7 Article

Inter-Species Rescue of Mutant Phenotype-The Standard for Genetic Analysis of Human Genetic Disorders in Drosophila melanogaster Model

期刊

出版社

MDPI
DOI: 10.3390/ijms23052613

关键词

human genetic disorder; Drosophila melanogaster model; heterologous rescue; functional complementation; genetic analysis

资金

  1. Ministry of Research, Innovation and Digitalization through Program 1-Development of the national RD system [41 PFE/30.12.2021]
  2. [C1.2.PFE-CDI.2021-587]

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Drosophila melanogaster is a versatile model organism in genetics that has been used to study and simulate human genetic diseases. By transferring human genes into fruit flies and observing the effects, researchers can identify and validate genetic variants associated with human diseases.
Drosophila melanogaster (the fruit fly) is arguably a superstar of genetics, an astonishing versatile experimental model which fueled no less than six Nobel prizes in medicine. Nowadays, an evolving research endeavor is to simulate and investigate human genetic diseases in the powerful D. melanogaster platform. Such a translational experimental strategy is expected to allow scientists not only to understand the molecular mechanisms of the respective disorders but also to alleviate or even cure them. In this regard, functional gene orthology should be initially confirmed in vivo by transferring human or vertebrate orthologous transgenes in specific mutant backgrounds of D. melanogaster. If such a transgene rescues, at least partially, the mutant phenotype, then it qualifies as a strong candidate for modeling the respective genetic disorder in the fruit fly. Herein, we review various examples of inter-species rescue of relevant mutant phenotypes of the fruit fly and discuss how these results recommend several human genes as candidates to study and validate genetic variants associated with human diseases. We also consider that a wider implementation of this evolutionist exploratory approach as a standard for the medicine of genetic disorders would allow this particular field of human health to advance at a faster pace.

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