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Hum Genet. 2019 Sep;138(8-9):973-991. doi: 10.1007/s00439-018-1948-2. Epub 2018 Nov 1.

Human eye conditions: insights from the fly eye.

Author information

1
Department of Biological and Medical Sciences, Oxford Brookes University, Gipsy Lane, Oxford, OX3 0BP, UK.
2
Centro Andaluz de BiologĂ­a del Desarrollo, CSIC/ Universidad Pablo de Olavide, Carretera de Utrera Km1, 41013, Sevilla, Spain.
3
Department of Biological and Medical Sciences, Oxford Brookes University, Gipsy Lane, Oxford, OX3 0BP, UK. amcgregor@brookes.ac.uk.

Abstract

The 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.

PMID:
30386938
DOI:
10.1007/s00439-018-1948-2
[Indexed for MEDLINE]

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