FIGLA

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FIGLA
Identifiers
Aliases FIGLA, BHLHC8, FIGALPHA, POF6, folliculogenesis specific bHLH transcription factor
External IDs MGI: 1349421 HomoloGene: 49294 GeneCards: 344018
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001004311

NM_012013

RefSeq (protein)

NP_001004311.2

NP_036143.1

Location (UCSC) Chr 2: 70.78 – 70.79 Mb Chr 6: 86.02 – 86.02 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

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.[1][2] The FIGLA gene is a germ cell-specific transcription factor preferentially expressed in oocytes that can be found on human chromosome 2p13.3.

Function[edit]

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.[1] FIGLA is related to the zona pellucida genes ZP1, ZP2, and ZP3.

Clinical significance[edit]

Mutation in the FIGLA gene are associated with premature ovarian failure.[3] 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.[3][4] This was observed in FIGLA mice knockouts which had diminished follicular endowment and accelerated oocyte loss throughout their reproductive life span.[3][4] Women with mutations in their FIGLA were shown to have a form of premature ovarian failure.[3][4] As well as the failure to form primordial follicles, knockout mice also lacked zona pellucida genes Zp1, Zp2, and ZP3 expression.[4]

References[edit]

  1. ^ a b "Entrez Gene: folliculogenesis specific basic helix-loop-helix". 
  2. ^ 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. 
  3. ^ a b c d 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. 
  4. ^ a b c d 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[edit]