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Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.
https://repo.qst.go.jp/records/47307
https://repo.qst.go.jp/records/47307de6e0167-63fb-46fc-9d2b-815206092d69
| Item type | 学術雑誌論文 / Journal Article(1) | |||||
|---|---|---|---|---|---|---|
| 公開日 | 2015-09-16 | |||||
| タイトル | ||||||
| タイトル | Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| 資源タイプ | ||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
| 資源タイプ | journal article | |||||
| アクセス権 | ||||||
| アクセス権 | metadata only access | |||||
| アクセス権URI | http://purl.org/coar/access_right/c_14cb | |||||
| 著者 |
Ho, Lee Jeong
× Ho, Lee Jeong× L, Silhavy Jennifer× Eun, Lee Ji× Al-Gazali, Lihadh× Thomas, Sophie× E, Davis Erica× L, Bielas Stephanie× J, Hill Kiley× Iannicelli, Miriam× Brancati, Francesco× B, Gabriel Stacey× Russ, Carsten× V, Logan Clare× Malik, Sharif Saghira× P, Bennett Christopher× Abe, Masumi× Hildebrandt, Friedhelm× H, Diplas Bill× Attié-Bitach, Tania× Katsanis, Nicholas× Rajab, Anna× Koul, Roshan× Sztriha, Laszlo× R, Waters Elizabeth× Ferro-Novick, Susan× Geoffrey, Woods C× A, Johnson Colin× Maria, Valente Enza× S, Zaki Maha× G, Gleeson Joseph× 安倍 真澄 |
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| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | Neighboring genes are often coordinately expressed within cis-regulatory modules, but evidence that nonparalogous genes share functions in mammals is lacking. Here, we report that mutation of either TMEM138 or TMEM216 causes a phenotypically indistinguishable human ciliopathy, Joubert syndrome. Despite a lack of sequence homology, the genes are aligned in a head-to-tail configuration and joined by chromosomal rearrangement at the amphibian-to-reptile evolutionary transition. Expression of the two genes is mediated by a conserved regulatory element in the noncoding intergenic region. Coordinated expression is important for their interdependent cellular role in vesicular transport to primary cilia. Hence, during vertebrate evolution of genes involved in ciliogenesis, nonparalogous genes were arranged to a functional gene cluster with shared regulatory elements. | |||||
| 書誌情報 |
Science (New York, N.Y.) 巻 335, 号 6071, p. 966-9, 発行日 2012-02 |
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| 出版者 | ||||||
| 出版者 | American Association for the Advancement of Science | |||||
| ISSN | ||||||
| 収録物識別子タイプ | ISSN | |||||
| 収録物識別子 | 0036-8075 | |||||
| PubMed番号 | ||||||
| 識別子タイプ | PMID | |||||
| 関連識別子 | 22282472 | |||||
| DOI | ||||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | 10.1126/science.1213506 | |||||
