論文 - 詳細
| RRC ID | 49323 |
|---|---|
| 著者 | Yamamoto S, Jaiswal M, Charng WL, Gambin T, Karaca E, Mirzaa G, Wiszniewski W, Sandoval H, Haelterman NA, Xiong B, Zhang K, Bayat V, David G, Li T, Chen K, Gala U, Harel T, Pehlivan D, Penney S, Vissers LELM, de Ligt J, Jhangiani SN, Xie Y, Tsang SH, Parman Y, Sivaci M, Battaloglu E, Muzny D, Wan YW, Liu Z, Lin-Moore AT, Clark RD, Curry CJ, Link N, Schulze KL, Boerwinkle E, Dobyns WB, Allikmets R, Gibbs RA, Chen R, Lupski JR, Wangler MF, Bellen HJ. |
| タイトル | A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. |
| ジャーナル | Cell |
| Abstract |
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 Mendelian disease. Genes that are essential in flies and have multiple human homologs were found to be likely to be associated with human diseases. Merging the human data sets with the fly genes allowed us to identify disease-associated mutations in six families and to provide insights into microcephaly associated with brain dysgenesis. This bidirectional synergism between fly genetics and human genomics facilitates the functional annotation of evolutionarily conserved genes involved in human health. |
| 巻・号 | 159(1) |
| ページ | 200-214 |
| 公開日 | 2014-9-25 |
| DOI | 10.1016/j.cell.2014.09.002 |
| PII | S0092-8674(14)01113-1 |
| PMID | 25259927 |
| PMC | PMC4298142 |
| MeSH | Animals Disease / genetics* Disease Models, Animal Drosophila melanogaster / genetics* Genetic Testing* Humans Inheritance Patterns* RNA Interference* X Chromosome |
| IF | 38.637 |
| 引用数 | 156 |
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| 最多言及媒体 | X(Twitter) |
| 各媒体での言及数の合計 | 48 |
| 過去6か月間でのオルトメトリクス指標の変動値 | 0.0 |
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