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FSHB

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FSHB
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesFSHB, HH24, follicle stimulating hormone beta subunit, Follitropin subunit beta, follicle stimulating hormone subunit beta
External IDsOMIM: 136530; MGI: 95582; HomoloGene: 430; GeneCards: FSHB; OMA:FSHB - orthologs
Orthologs
SpeciesHumanMouse
Entrez

2488

14308

Ensembl

ENSG00000131808

ENSMUSG00000027120

UniProt

P01225

Q60687

RefSeq (mRNA)

NM_000510
NM_001018080
NM_001382289

NM_008045

RefSeq (protein)

NP_000501
NP_001018090
NP_001369218

NP_032071

Location (UCSC)Chr 11: 30.23 – 30.24 MbChr 2: 106.89 – 106.89 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Follitropin subunit beta also known as follicle-stimulating hormone beta subunit (FSH-B) is a protein that in humans is encoded by the FSHB gene.[5][6][7] Alternative splicing results in two transcript variants encoding the same protein.

Function

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The pituitary glycoprotein hormone family includes follicle-stimulating hormone, luteinizing hormone, chorionic gonadotropin, and thyroid-stimulating hormone. All of these glycoproteins consist of an identical alpha subunit and a hormone-specific beta subunit. This gene encodes the beta subunit of follicle-stimulating hormone. In conjunction with luteinizing hormone, follicle-stimulating hormone induces egg and sperm production.[7]

The FSHB gene in human DNA encodes the follicle-stimulating hormone subunit beta protein (FSH-B), or Follitropin Beta. More specifically, the FSHB gene encodes for the beta subunit of follicle-stimulating hormone (FSH). Therefore, proper transcription of FSHB allows for the proper production of FSH. FSH is a peptide hormone the pituitary gland produces that is involved with the reproductive system. FSH promotes follicular oocyte (egg) production, growth, and maturation and helps control a female's menstrual cycle. Additionally, FSH is involved in the male reproductive system by stimulating spermatogenesis (maturation of sperm cells) and initiating puberty. Studies show that variations in the FSHB gene can contribute to the likelihood of a woman becoming pregnant with fraternal, or dizygotic, twins.[8] This is because certain heritable variations of FSHB contribute to increased production of FSH from the pituitary gland, raising the levels of FSH found in a woman’s blood. It is also shown that women with these FSHB variants had their first menstrual cycle, children, and menopause at an earlier age than women without the variant.[8] This relates to having an increased risk of a woman bearing fraternal twins because higher levels of FSH will produce more eggs.[9] The more eggs a woman produces increases the chance of multiple eggs ovulating and becoming fertilized by sperm. In retrospect, depending on the type of variation, the FSHB gene could potentially cause infertility by the inability to produce enough FSH, in both males and females.[8] [10] [11] Additionally, low or no FSH can result in delayed puberty and risk of disease.[12] [13] Diseases associated with FSHB variants are hypogonadism, hypogonadotropic hypogonadism type 24 (HH24), and type 7 (HH7), and are possibly linked to polycystic ovary syndrome.[12] [13] [14]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000131808 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027120 – 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. ^ Watkins PC, Eddy R, Beck AK, Vellucci V, Leverone B, Tanzi RE, Gusella JF, Shows TB (Aug 1987). "DNA sequence and regional assignment of the human follicle-stimulating hormone beta-subunit gene to the short arm of human chromosome 11". DNA. 6 (3): 205–12. doi:10.1089/dna.1987.6.205. PMID 2885163.
  6. ^ Shome B, Parlow AF, Liu WK, Nahm HS, Wen T, Ward DN (Sep 1989). "A reevaluation of the amino acid sequence of human follitropin beta-subunit". J Protein Chem. 7 (4): 325–39. doi:10.1007/BF01024882. PMID 3151250. S2CID 20497546.
  7. ^ a b "Entrez Gene: FSHB follicle stimulating hormone, beta polypeptide".
  8. ^ a b c Mbarek H (May 5, 2016). "Identification of Common Genetic Variants Influencing Spontaneous Dizygotic Twinning and Female Fertility". Am J Hum Genet. 98 (5): 898–908. doi:10.1016/j.ajhg.2016.03.008. PMC 4863559. PMID 27132594.
  9. ^ Lambalk C (Oct 25, 1998). "The endocrinology of dizygotic twinning in the human". Mol Cell Endocrinol. 145 (1–2): 97–102. doi:10.1016/s0303-7207(98)00175-0. PMID 9922105. S2CID 38939075.
  10. ^ Matthews C (Sep 1993). "Primary amenorrhoea and infertility due to a mutation in the beta-subunit of follicle-stimulating hormone". Nat Genet. 5 (1): 83–6. doi:10.1038/ng0993-83. PMID 8220432. S2CID 24553363.
  11. ^ Bohaczuk S (Jan 2021). "FSHB Transcription is Regulated by a Novel 5′ Distal Enhancer With a Fertility-Associated Single Nucleotide Polymorphism". Endocrinology. 162 (1): bqaa181. doi:10.1210/endocr/bqaa181. PMC 7846141. PMID 33009549.
  12. ^ a b Layman L (Aug 1997). "Delayed puberty and hypogonadism caused by mutations in the follicle-stimulating hormone beta-subunit gene". N Engl J Med. 337 (9): 607–11. doi:10.1056/NEJM199708283370905. PMID 9271483.
  13. ^ a b Kottler M (2009). "FHSB gene mutation in a female with delayed puberty and hypogonadism: response to recombinant human FSH". Folia Histochemica et Cytobiologica. 47 (5): S55–S58. doi:10.2478/v10042-009-0054-7. PMID 20067895.
  14. ^ Hong S (June 2020). "Relationship between the characteristic traits of polycystic ovary syndrome and susceptibility genes". Sci Rep. 10 (1): 10479. Bibcode:2020NatSR..1010479H. doi:10.1038/s41598-020-66633-2. PMC 7320020. PMID 32591571.

Further reading

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