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Human eye conditions: insights from the fly eye

AuthorsGaspar, Pedro; Almudi, Isabel; Nunes, Maria D. S.; McGregor, Alistair P.
Issue Date2019
PublisherSpringer Nature
CitationHuman Genetics 138: 973-991 (2019)
AbstractThe fruit fly Drosophila melanogaster has served as an excellent model to study and understand the genetics of many human diseases from cancer to neurodegeneration. Studying the regulation of growth, determination and differentiation of the compound eyes of this fly, in particular, have provided key insights into a wide range of diseases. Here we review the regulation of the development of fly eyes in light of shared aspects with human eye development. We also show how understanding conserved regulatory pathways in eye development together with the application of tools for genetic screening and functional analyses makes Drosophila a powerful model to diagnose and characterize the genetics underlying many human eye conditions, such as aniridia and retinitis pigmentosa. This further emphasizes the importance and vast potential of basic research to underpin applied research including identifying and treating the genetic basis of human diseases.
Publisher version (URL)http://dx.doi.org/10.1007/s00439-018-1948-2
Appears in Collections:(CABD) Artículos
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