FIGLA

Folliculogenesis-specific basic helix-loop-helix, also known as factor in the germline alpha (FIGalpha) or transcription factor FIGa, is a protein that in humans is encoded by the FIGLA gene.[5][6] The FIGLA gene is a germ cell-specific transcription factor preferentially expressed in oocytes that can be found on human chromosome 2p13.3.

FIGLA
Identifiers
Aliases	FIGLA, BHLHC8, FIGALPHA, POF6, folliculogenesis specific bHLH transcription factor
External IDs	OMIM: 608697 MGI: 1349421 HomoloGene: 49294 GeneCards: FIGLA
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2p13.3 Start 70,777,310 bp[1] End 70,790,643 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6|6 C3 Start 86,016,171 bp[2] End 86,020,996 bp[2]
Gene ontology Molecular function • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding • sequence-specific DNA binding • DNA binding • GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific • transcription factor binding • protein dimerization activity • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component • cell nucleus • transcription factor complex Biological process • multicellular organism development • cell differentiation • regulation of transcription, DNA-templated • transcription from RNA polymerase II promoter • transcription, DNA-templated • positive regulation of transcription from RNA polymerase II promoter • oocyte development • oogenesis Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	344018	26910
Ensembl	ENSG00000183733	ENSMUSG00000030001
UniProt	Q6QHK4	O55208
RefSeq (mRNA)	NM_001004311	NM_012013
RefSeq (protein)	NP_001004311	NP_036143
Location (UCSC)	Chr 2: 70.78 – 70.79 Mb	Chr 6: 86.02 – 86.02 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

This gene encodes a protein that functions in postnatal oocyte-specific gene expression. The protein is a basic helix-loop-helix transcription factor that regulates multiple oocyte-specific genes, including genes involved in folliculogenesis, oocyte differentiation, and those that encode the zona pellucida.[5] FIGLA is related to the zona pellucida genes ZP1, ZP2, and ZP3.

Clinical significance

Mutation in the FIGLA gene are associated with premature ovarian failure.[7] Premature ovarian failure is a genetic disorder that leads to hypergonadotropic ovarian failure and infertility. It is believed that premature ovarian failure in humans is caused by FIGLA haploninsuffciency, which disrupts the formation of the primordial follicles.[7][8] This was observed in FIGLA mice knockouts which had diminished follicular endowment and accelerated oocyte loss throughout their reproductive life span.[7][8] Women with mutations in their FIGLA were shown to have a form of premature ovarian failure.[7][8] As well as the failure to form primordial follicles, knockout mice also lacked zona pellucida genes Zp1, Zp2, and ZP3 expression.[8]

References

1. GRCh38: Ensembl release 89: ENSG00000183733 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000030001 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: folliculogenesis specific basic helix-loop-helix".
6. Huntriss J, Gosden R, Hinkins M, Oliver B, Miller D, Rutherford AJ, Picton HM (December 2002). "Isolation, characterization and expression of the human Factor In the Germline alpha (FIGLA) gene in ovarian follicles and oocytes". Molecular Human Reproduction. 8 (12): 1087–95. doi:10.1093/molehr/8.12.1087. PMID 12468641.
7. Zhao H, Chen ZJ, Qin Y, Shi Y, Wang S, Choi Y, Simpson JL, Rajkovic A (June 2008). "Transcription factor FIGLA is mutated in patients with premature ovarian failure". American Journal of Human Genetics. 82 (6): 1342–8. doi:10.1016/j.ajhg.2008.04.018. PMC 2427265. PMID 18499083.
8. Fowler PA, Flannigan S, Mathers A, Gillanders K, Lea RG, Wood MJ, Maheshwari A, Bhattacharya S, Collie-Duguid ES, Baker PJ, Monteiro A, O'Shaughnessy PJ (April 2009). "Gene expression analysis of human fetal ovarian primordial follicle formation". The Journal of Clinical Endocrinology and Metabolism. 94 (4): 1427–35. doi:10.1210/jc.2008-2619. PMID 19258411.

Further reading

• Miyamoto T, Sengoku K, Takuma N, Hasuike S, Hayashi H, Yamauchi T, Yamashita T, Ishikawa M (November 2002). "Isolation and expression analysis of the testis-specific gene, STRA8, stimulated by retinoic acid gene 8". Journal of Assisted Reproduction and Genetics. 19 (11): 531–5. PMC 3455343. PMID 12489526.
• Suzumori N, Pangas SA, Rajkovic A (2007). "Candidate genes for premature ovarian failure". Current Medicinal Chemistry. 14 (3): 353–7. doi:10.2174/092986707779941087. PMID 17305537.
• Törmälä RM, Jääskeläinen M, Lakkakorpi J, Liakka A, Tapanainen JS, Vaskivuo TE (July 2008). "Zona pellucida components are present in human fetal ovary before follicle formation". Molecular and Cellular Endocrinology. 289 (1–2): 10–5. doi:10.1016/j.mce.2008.01.029. PMID 18502569.
• Zhao H, Chen ZJ, Qin Y, Shi Y, Wang S, Choi Y, Simpson JL, Rajkovic A (June 2008). "Transcription factor FIGLA is mutated in patients with premature ovarian failure". American Journal of Human Genetics. 82 (6): 1342–8. doi:10.1016/j.ajhg.2008.04.018. PMC 2427265. PMID 18499083.
• Pangas SA, Rajkovic A. "Transcriptional regulation of early oogenesis: in search of masters". Human Reproduction Update. 12 (1): 65–76. doi:10.1093/humupd/dmi033. PMID 16143663.
• van Dooren MF, Bertoli-Avellab AM, Oldenburg RA (August 2009). "Premature ovarian failure and gene polymorphisms". Current Opinion in Obstetrics and Gynecology. 21 (4): 313–7. doi:10.1097/gco.0b013e32832e0813. PMID 19610175.
• Bayne RA, Martins da Silva SJ, Anderson RA (June 2004). "Increased expression of the FIGLA transcription factor is associated with primordial follicle formation in the human fetal ovary". Molecular Human Reproduction. 10 (6): 373–81. doi:10.1093/molehr/gah056. PMID 15044608.