A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases

@article{Yamamoto2014ADG,
  title={A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases},
  author={Shinya Yamamoto and Manish Jaiswal and W. Charng and Tomasz Gambin and E. Haluk Karaca and Ghayda M Mirzaa and Wojciech K Wiszniewski and Hector Paulo Sandoval and Nele A. Haelterman and Bo Xiong and Ke Zhang and Vafa Bayat and Gabriela R David and Tongchao Li and Kuchuan Chen and Upasana Gala and Tamar Harel and Davut Pehlivan and Samantha J Penney and Lisenka E L M Vissers and Joep de Ligt and Shalini N. Jhangiani and Yajing Xie and Stephen H Tsang and Yeşim G Parman and Merve Sivaci and E Battaloglu and Donna M. Muzny and Ying-wooi Wan and Zhandong Liu and Alexander T. Lin-Moore and Robin Dawn Clark and Cynthia J R Curry and Nichole Link and Karen L Schulze and Eric Boerwinkle and William B Dobyns and Rando L. Allikmets and Richard A. Gibbs and Rui Chen and James R Lupski and Michael F Wangler and Hugo J. Bellen},
  journal={Cell},
  year={2014},
  volume={159},
  pages={200-214}
}
Invertebrate model systems are powerful tools for studying human disease owing to their genetic tractability and ease of screening. We conducted a mosaic genetic screen of lethal mutations on the Drosophila X chromosome to identify genes required for the development, function, and maintenance of the nervous system. We identified 165 genes, most of whose function has not been studied in vivo. In parallel, we investigated rare variant alleles in 1,929 human exomes from families with unsolved… CONTINUE READING
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