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Fig 1 | Biology of Sex Differences

Fig 1

From: Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-YPOS mouse model

Fig 1

C57BL/6J-Y poschiavinus mice — a model for 46,XY DSD with gonadal dysgenesis. a The morphology of gonadal development in mice shown at embryonic day E11.5 (when it is still capable of giving rise to both testes and ovaries) and at E15.5. Top panel: testicular development in wild-type B6-YB6 male and ovarian development in WT B6-XX female. Bottom panel: B6-YPOS males show development of ovotestis (left) or ovary (right). b Pie chart representing the number of differentially expressed genes between WT B6-YB6 and undervirilized B6-YPOS male gonads at E11.5, as detected by RNASeq. Variants were found in exomes of the cohort of patients with 46,XY DSD in 189 of the 308 underexpressed and 116 of the 207 overexpressed genes. c Expression (shown as fragments per kilobase of transcript per million reads, FPKM) of the two major sex-determining genes Sry and Sox9. Sry expression was present in both B6-YB6 and B6-YPOS males. However, expression of Sox9 was dramatically lower in B6-YPOS males (as expected [41]); as a consequence, expression of some of the candidate genes for 46,XY DSD may be Sox9-dependent. d Expression values (shown as fold change differences between B6-YB6 and B6-YPOS males) for the 9 genes present in the primary gene list used for exome variant filtration that are also downregulated in B6-YPOS males. The red line represents a 2-fold cutoff

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