| RRC ID |
57127
|
| 著者 |
Bellen HJ, Wangler MF, Yamamoto S.
|
| タイトル |
The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases.
|
| ジャーナル |
Hum Mol Genet
|
| Abstract |
Drosophila melanogaster is a unique, powerful genetic model organism for studying a broad range of biological questions. Human studies that probe the genetic causes of rare and undiagnosed diseases using massive-parallel sequencing often require complementary gene function studies to determine if and how rare variants affect gene function. These studies also provide inroads to disease mechanisms and therapeutic targets. In this review we discuss strategies for functional studies of rare human variants in Drosophila. We focus on our experience in establishing a Drosophila core of the Model Organisms Screening Center for the Undiagnosed Diseases Network (UDN) and concurrent fly studies with other large genomic rare disease research efforts such as the Centers for Mendelian Genomics. We outline four major strategies that use the latest technology in fly genetics to understand the impact of human variants on gene function. We also mention general concepts in probing disease mechanisms, therapeutics and using rare disease to understand common diseases. Drosophila is and will continue to be a fundamental genetic model to identify new disease-causing variants, pathogenic mechanisms and drugs that will impact medicine.
|
| 巻・号 |
28(R2)
|
| ページ |
R207-R214
|
| 公開日 |
2019-11-21
|
| DOI |
10.1093/hmg/ddz135
|
| PII |
5521953
|
| PMID |
31227826
|
| PMC |
PMC6872428
|
| MeSH |
Animals
Animals, Genetically Modified / genetics
Animals, Genetically Modified / metabolism
Disease Models, Animal
Drosophila melanogaster / genetics*
Drosophila melanogaster / metabolism
Genomics
Humans
Loss of Function Mutation
Phenotype
Rare Diseases / diagnosis
Rare Diseases / genetics*
Rare Diseases / pathology
|
| IF |
4.544
|
| 引用数 |
8
|
| リソース情報 |
| ショウジョウバエ |
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