Fig. 1: Organization of the SRY locus in human.
From: A conserved NR5A1-responsive enhancer regulates SRY in testis-determination
a A sequence fragment spanning 80 kilobases (GRC38h38.p13-chrY: 2786855-2867268) from SRY to RPSY4. The intergenic region is predominantly formed of highly repetitive elements. b Zoomed-in view of a subregion from a covering the sequence from SRY to the beginning of the repetitive elements (GRC38h38.p13-chrY:2,786,855- 2,794,240). E800 corresponds to the region sequenced in 46,XY individuals with unexplained gonadal dysgenesis described in Fig. 3. E250 corresponds to the 250 bp fragment used for the luciferase assay described in Fig. 4E. The light blue, dark blue, and red triangles represent consensus binding sites for GATA4, WT1, and NR5A1, respectively. Turquoise indicates repetitive sequences. Open arrows represent SRY and RNASEH2CP1, while black boxes represent the RPS4Y1 exons. The transcription Start Site (TSS) of SRY is indicated by an arrow. c Consensus binding sites for GATA4, WT1, and NR5A1 predicted by Matinspector (from the Genomatix suite).
