| First Author | Gonen N | Year | 2018 |
| Journal | Science | Volume | 360 |
| Issue | 6396 | Pages | 1469-1473 |
| PubMed ID | 29903884 | Mgi Jnum | J:263354 |
| Mgi Id | MGI:6164392 | Doi | 10.1126/science.aas9408 |
| Citation | Gonen N, et al. (2018) Sex reversal following deletion of a single distal enhancer of Sox9. Science 360(6396):1469-1473 |
| abstractText | 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. |
