Global S&T Development Trend Analysis Platform of Resources and Environment
DOI | 10.1126/science.aas9408 |
Sex reversal following deletion of a single distal enhancer of Sox9 | |
Gonen, Nitzan1; Futtner, Chris R.2; Wood, Sophie1; Garcia-Moreno, S. Alexandra2; Salamone, Isabella M.2,5; Samson, Shiela C.1,6; Sekido, Ryohei3,7; Poulat, Francis4; Maatouk, Danielle M.2; Lovell-Badge, Robin1 | |
2018-06-29 | |
发表期刊 | SCIENCE |
ISSN | 0036-8075 |
EISSN | 1095-9203 |
出版年 | 2018 |
卷号 | 360期号:6396页码:1469-1473 |
文章类型 | Article |
语种 | 英语 |
国家 | England; USA; Scotland; France |
英文摘要 | Cell fate decisions require appropriate regulation of key genes. Sox9, a direct target of SRY, is pivotal in mammalian sex determination. In vivo high-throughput chromatin accessibility techniques, transgenic assays, and genome editing revealed several novel gonadal regulatory elements in the 2-megabase gene desert upstream of Sox9. Although others are redundant, enhancer 13 (Enh13), a 557-base pair element located 565 kilobases 5' from the transcriptional start site, is essential to initiate mouse testis development; its deletion results in XY females with Sox9 transcript levels equivalent to those in XX gonads. Our data are consistent with the time-sensitive activity of SRY and indicate a strict order of enhancer usage. Enh13 is conserved and embedded within a 32.5-kilobase region whose deletion in humans is associated with XY sex reversal, suggesting that it is also critical in humans. |
领域 | 地球科学 ; 气候变化 ; 资源环境 |
收录类别 | SCI-E |
WOS记录号 | WOS:000436598000080 |
WOS关键词 | SRY-RELATED GENE ; CAMPOMELIC DYSPLASIA ; EXPRESSION ; MICE ; MUTATIONS ; UPSTREAM ; IDENTIFY ; REGIONS ; MOUSE ; CELLS |
WOS类目 | Multidisciplinary Sciences |
WOS研究方向 | Science & Technology - Other Topics |
引用统计 | |
文献类型 | 期刊论文 |
条目标识符 | http://119.78.100.173/C666/handle/2XK7JSWQ/198994 |
专题 | 地球科学 资源环境科学 气候变化 |
作者单位 | 1.Francis Crick Inst, 1 Midland Rd, London NW1 1AT, England; 2.Northwestern Univ, Dept Obstet & Gynecol, Chicago, IL 60611 USA; 3.Univ Aberdeen, Inst Med Sci, Aberdeen AB25 2ZD, Scotland; 4.Univ Montpellier, Dept Genet & Dev, Inst Human Genet, CNRS,UMR9002, Montpellier, France; 5.Northwestern Univ, Ctr Genet Med, Chicago, IL 60611 USA; 6.Univ Utah, Huntsman Canc Inst, Dept Oncol Sci, Salt Lake City, UT 84112 USA; 7.UCL, Inst Ophthalmol, 11-34 Bath St, London EC1V 9EL, England |
推荐引用方式 GB/T 7714 | Gonen, Nitzan,Futtner, Chris R.,Wood, Sophie,et al. Sex reversal following deletion of a single distal enhancer of Sox9[J]. SCIENCE,2018,360(6396):1469-1473. |
APA | Gonen, Nitzan.,Futtner, Chris R..,Wood, Sophie.,Garcia-Moreno, S. Alexandra.,Salamone, Isabella M..,...&Lovell-Badge, Robin.(2018).Sex reversal following deletion of a single distal enhancer of Sox9.SCIENCE,360(6396),1469-1473. |
MLA | Gonen, Nitzan,et al."Sex reversal following deletion of a single distal enhancer of Sox9".SCIENCE 360.6396(2018):1469-1473. |
条目包含的文件 | 条目无相关文件。 |
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