LRH-1 is important for maintaining pluripotence of stem cells during embryonic development.[11][10]
Nr5a2 was recently identified at a totipotent pioneer factor.[10] The orphan nuclear receptor Nr5a2 has been shown to be important in fertility, ovarian function,[12] and zygotic genome activation (ZGA).[10] Heterozygosity for Nr5a2 is associated with reduced ovarian function, specifically in the synthesis of progesterone. This impaired progesterone production was associated with infertility in female mice, as well as increased incidence of pregnancy loss.[12] The loss of embryos around implantation associated with Nr5a2+/- mice indicated a possible interaction with genome-wide gene expression in early embryo development. Upon further investigation, Nr5a2 was found to regulate ZGA in mice embryos similar to that of Zelda in Drosophila. Nr5a2 is maternally contributed and regulates transcription activity in the early embryo by binding to distal cis-regulatory sequences and promoting chromatin accessibility. The change in chromatin conformation allows for the activation of transcription of about 72% of genes involved in ZGA.[10]
^Galarneau L, Drouin R, Bélanger L (1998). "Assignment of the fetoprotein transcription factor gene (FTF) to human chromosome band 1q32.11 by in situ hybridization". Cytogenetics and Cell Genetics. 82 (3–4): 269–270. doi:10.1159/000015116 (inactive 2024-07-25). PMID9858833. S2CID46813832.{{cite journal}}: CS1 maint: DOI inactive as of July 2024 (link)
^Fayard E, Auwerx J, Schoonjans K (May 2004). "LRH-1: an orphan nuclear receptor involved in development, metabolism and steroidogenesis". Trends in Cell Biology. 14 (5): 250–260. doi:10.1016/j.tcb.2004.03.008. PMID15130581.
^ abLabelle-Dumais C, Paré JF, Bélanger L, Farookhi R, Dufort D (August 2007). "Impaired progesterone production in Nr5a2+/- mice leads to a reduction in female reproductive function". Biology of Reproduction. 77 (2): 217–225. doi:10.1095/biolreprod.106.059121. PMID17409375.
Wong M, Ramayya MS, Chrousos GP, Driggers PH, Parker KL (October 1996). "Cloning and sequence analysis of the human gene encoding steroidogenic factor 1". Journal of Molecular Endocrinology. 17 (2): 139–147. doi:10.1677/jme.0.0170139. PMID8938589.
Zhang CK, Lin W, Cai YN, Xu PL, Dong H, Li M, et al. (August 2001). "Characterization of the genomic structure and tissue-specific promoter of the human nuclear receptor NR5A2 (hB1F) gene". Gene. 273 (2): 239–249. doi:10.1016/S0378-1119(01)00586-8. PMID11595170.
Peng N, Kim JW, Rainey WE, Carr BR, Attia GR (December 2003). "The role of the orphan nuclear receptor, liver receptor homologue-1, in the regulation of human corpus luteum 3beta-hydroxysteroid dehydrogenase type II". The Journal of Clinical Endocrinology and Metabolism. 88 (12): 6020–6028. doi:10.1210/jc.2003-030880. PMID14671206.