Table 3. The top 20 differentially expressed genes after the onset of testicular steroidogenesis (“ late testis” vs “early testis”), with any associated clinical conditions in humans.
Several other high-ranking genes associated with monogenic disorders are also shown. Genes are ranked based on log2FC in the late testis (n=8) compared to early testis (n=9). Further clinical information is available at Online Mendelian Inheritance in Man (OMIM).
| Rank | Gene | log 2FC | Fold change |
OMIM gene |
Clinical condition (monogenic) |
|---|---|---|---|---|---|
| 1 | CYP17A1 | 5.27 | 38.5 | 609300 | Congenital adrenal hyperplasia (due to 17 α-hydroxylase deficiency) |
| 2 | LHCGR | 3.47 | 11.1 | 152790 | Leydig cell hypoplasia |
| 3 | INSL3 | 3.13 | 8.8 | 146738 | Cryptorchidism |
| 4 | CYP11A1 | 3.08 | 8.5 | 118485 | Congenital adrenal hyperplasia (due to CYP11A1/ P450scc deficiency) |
| 5 | CALB2 | 2.86 | 7.3 | ||
| 6 | SCARB1 | 2.83 | 7.1 | 601040 | High-density lipoprotein elevation |
| 7 | STAR | 2.54 | 5.8 | 600617 | Congenital lipoid adrenal hyperplasia; Familial glucocorticoid deficiency type 3 |
| 8 | DHCR24 | 2.22 | 4.6 | 606418 | Desmosterolosis |
| 9 | ABCA10 | 2.21 | 4.6 | ||
| 10 | MGARP | 2.16 | 4.5 | ||
| 11 | MSMO1 | 2.12 | 4.3 | 607545 | Microcephaly, congenital cataract and psoriasiform dermatitis |
| 12 | RNU6-1160P | 2.11 | 4.3 | ||
| 13 | GRAMD1B | 2.04 | 4.1 | ||
| 14 | HSD17B6 | 2.03 | 4.1 | ||
| 15 | EGFLAM | 2.02 | 4.1 | ||
| 16 | ABCA8 | 2.02 | 4.0 | ||
| 17 | IDI1 | 2.01 | 4.0 | ||
| 18 | LDLR | 1.95 | 3.9 | 600694 | Familial hypercholesterolaemia |
| 19 | LUM | 1.95 | 3.9 | ||
| 20 | SPARCL1 | 1.94 | 3.8 | ||
| 22 | HSD3B2 | 1.92 | 3.8 | 613890 | Congenital adrenal hyperplasia (due to 3 β-hydroxsteroid dehydrogenase deficiency type 2) |
| 23 | DHCR7 | 1.92 | 3.8 | 602858 | Smith-Lemli-Opitz syndrome |
| 24 | C7 | 1.87 | 3.7 | 217070 | C7 (complement) deficiency |
| 25 | HSD17B3 | 1.87 | 3.7 | 605573 | 17 β-hydroxysteroid dehydrogenase deficiency type 3 |
| 28 | HPGD | 1.84 | 3.6 | 601688 | Cranioosteoarthropathy; Primary hypertrophic osteoarthropathy type 1 |
| 29 | PAPSS2 | 1.83 | 3.5 | 603005 | Brachyolmia type 4 with mild epiphyseal and metaphyseal changes, adrenal hyperandrogenism |
| 41 | FDPS | 1.61 | 3.0 | 134629 | Porokeratosis type 9 |
| 42 | MVD | 1.59 | 3.0 | 603236 | Porokeratosis type 7 |
| 49 | NPC1 | 1.55 | 2.9 | 607623 | Niemann-Pick disease type C1 |
| 68 | INHA | 1.40 | 2.6 | 147380 | Adrenocortical carcinoma (paediatric) |
| 100 | AMH | 1.18 | 2.3 | 600956 | Persistent Müllerian duct syndrome, type 1 |
| 119 | POR | 1.07 | 2.1 | 124015 | P450 oxidoreductase deficiency, Antley-Bixler syndrome |