Function
As its name suggests, SOHLH1 is a transcription factor of the basic helix–loop–helix family.[5] It is involved in the development of both ovaries and testes.[6] In the reproductive system, SOHLH1 (together with its homolog SOHLH2) are predominantly expressed in germ cells and early ovarian follicles (primordial and primary).[6] Follicles fail to develop properly in the ovaries of knock-out mice, and are completely missing by 3 weeks after birth.[6] These defects are thought to be related to SOHLH1’s regulation of genes specific to germ cells, notably including the transcription factor LHX8 which it directly regulates.[6] Other directly regulated genes include ZP1 and ZP3.[6]
Clinical significance
Pathogenic variants in human are associated with both male and female reproductive system dysfunction. In the female reproductive system, homozygous variants have been associated with a failure of the ovaries to develop normally. Instead, the gonads develop into non-functional fibrous tissue (a condition called gonadal dysgenesis).[8][10] The specific subtype associated with SOHLH1 is called Ovarian Dysgenesis 5.[8] In the male reproductive system, heterozygous variants are associated with infertility due to a failure in sperm production, which is called nonobstructive azoospermia.[9][11] This SOHLH1-associated subtype is called Spermatogenic Failure 32.[9]
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000165643 – Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000059625 – Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- 1 2 3 4 "SOHLH1 gene Spermatogenesis And Oogenesis Specific Basic Helix-Loop-Helix 1". genecards.org. LifeMap Sciences, Inc. Retrieved 2026-07-26.
- 1 2 3 4 5 6 7 8 Lim EJ, Choi Y (2012-12-31). "Transcription factors in the maintenance and survival of primordial follicles". Clinical and Experimental Reproductive Medicine. 39 (4): 127. doi:10.5653/cerm.2012.39.4.127.
- ↑ Latchman DS (December 1997). "Transcription factors: an overview". The International Journal of Biochemistry & Cell Biology. 29 (12): 1305–12. doi:10.1016/S1357-2725(97)00085-X. PMC 2002184. PMID 9570129.
- 1 2 3 "Ovarian Dysgenesis 5 (ODG5)". malacards.org. LifeMap Sciences, Inc. Retrieved 2026-07-26.
- 1 2 3 "Spermatogenic Failure 32 (SPGF32)". malacards.org. LifeMap Sciences, Inc. Retrieved 2026-07-26.
- ↑ Federici S, Rossetti R, Moleri S, Munari EV, Frixou M, Bonomi M, Persani L (2024-09-26). "Primary ovarian insufficiency: update on clinical and genetic findings". Frontiers in Endocrinology. 15. doi:10.3389/fendo.2024.1464803. hdl:2434/1199155.
- ↑ Jiao SY, Yang YH, Chen SR (2021-01-27). "Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice". Human Reproduction Update. 27 (1): 154–189. doi:10.1093/humupd/dmaa034.
