論文 - 詳細
| RRC ID | 40102 |
|---|---|
| 著者 | Yoshihara M, Saito D, Sato T, Ohara O, Kuramoto T, Suyama M. |
| タイトル | Design and application of a target capture sequencing of exons and conserved non-coding sequences for the rat. |
| ジャーナル | BMC Genomics |
| Abstract |
BACKGROUND:Target capture sequencing is an efficient approach to directly identify the causative mutations of genetic disorders. To apply this strategy to laboratory rats exhibiting various phenotypes, we developed a novel target capture probe set, TargetEC (target capture for exons and conserved non-coding sequences), which can identify mutations not only in exonic regions but also in conserved non-coding sequences and thus can detect regulatory mutations. RESULTS:TargetEC covers 1,078,129 regions spanning 146.8 Mb of the genome. We applied TargetEC to four inbred rat strains (WTC/Kyo, WTC-swh/Kyo, PVG/Seac, and KFRS4/Kyo) maintained by the National BioResource Project for the Rat in Japan, and successfully identified mutations associated with these phenotypes, including one mutation detected in a conserved non-coding sequence. CONCLUSIONS:The method developed in this study can be used to efficiently identify regulatory mutations, which cannot be detected using conventional exome sequencing, and will help to deepen our understanding of the relationships between regulatory mutations and associated phenotypes. |
| 巻・号 | 17 |
| ページ | 593 |
| 公開日 | 2016-8-9 |
| DOI | 10.1186/s12864-016-2975-9 |
| PII | 10.1186/s12864-016-2975-9 |
| PMID | 27506932 |
| PMC | PMC4979189 |
| MeSH | Animals Conserved Sequence* Exons* Genome Genomics / methods High-Throughput Nucleotide Sequencing* / methods INDEL Mutation Introns* Polymorphism, Single Nucleotide Rats Reproducibility of Results Untranslated Regions* |
| IF | 3.594 |
| 引用数 | 8 |
| WOS 分野 | BIOTECHNOLOGY & APPLIED MICROBIOLOGY GENETICS & HEREDITY |
| リソース情報 | |
| ラット | WTC/Kyo (strainID=18) WTC-swh/Kyo (strainID=539) PVG/Seac (strainID=113) and KFRS4/Kyo (strainID=919) |