Sex reversal following deletion of a single distal enhancer of Sox9

N Gonen, CR Futtner, S Wood, SA Garcia-Moreno… - Science, 2018 - science.org
N Gonen, CR Futtner, S Wood, SA Garcia-Moreno, IM Salamone, SC Samson, R Sekido
Science, 2018science.org
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 …
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.
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