Ala307Thr variation modulates FSHR structure and impairs its binding affinity for FSH: Implications in polycystic ovarian syndrome.
Ala307Thr genotype
FSHR
polycystic ovarian syndrome
premature ovarian failure
Journal
Cell biochemistry and function
ISSN: 1099-0844
Titre abrégé: Cell Biochem Funct
Pays: England
ID NLM: 8305874
Informations de publication
Date de publication:
Aug 2023
Aug 2023
Historique:
revised:
15
05
2023
received:
31
03
2023
accepted:
27
05
2023
medline:
15
8
2023
pubmed:
8
6
2023
entrez:
8
6
2023
Statut:
ppublish
Résumé
Follicle-stimulating hormone receptor (FSHR) belongs to the family of G-protein coupled receptors and acts as a cognate receptor for follicle-stimulating hormone (FSH). Among the various polymorphic changes reported in FSHR, rs6165 polymorphism leading to Ala307Thr variation in the extracellular domain of the FSHR (FSHR
Substances chimiques
Follicle Stimulating Hormone
9002-68-0
Receptors, FSH
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
633-641Subventions
Organisme : Indian Council of Medical Research
ID : 5/10/15/CAR-SMVDV/2018-RBMCH
Informations de copyright
© 2023 John Wiley & Sons Ltd.
Références
Laven JS. Follicle stimulating hormone receptor (FSHR) polymorphisms and polycystic ovary syndrome (PCOS). Front Endocrinol. 2019;10:23.
Simoni M, Gromoll J, Nieschlag E. The follicle-stimulating hormone receptor: biochemistry, molecular biology, physiology, and pathophysiology. Endocr Rev. 1997;18(6):739-773.
Sudo S. Genetic and functional analyses of polymorphisms in the human FSH receptor gene. Mol Hum Reprod. 2002;8(10):893-899.
Gharemirshamlu FR, Afsar M, Mokhdomi TA, et al. D224V and S128Y mutation in FSHRED influence thumb movement differentially: an intricate insight gained by short-term molecular dynamics simulation. JCB. 2019;120(5):7701-7710.
Fan QR, Hendrickson WA. Assembly and structural characterization of an authentic complex between human follicle stimulating hormone and a hormone-binding ectodomain of its receptor. Mol Cell Endocrinol. 2007;260-262:73-82.
Jiang X, Liu H, Chen X, et al. Structure of follicle-stimulating hormone in complex with the entire ectodomain of its receptor. Proc Natl Acad Sci USA. 2012;109(31):12491-12496.
Moyle WR, Xing Y, Lin W, et al. Model of glycoprotein hormone receptor ligand binding and signaling. J Biol Chem. 2004;279(43):44442-44459.
Mueller S, Jaeschke H, Günther R, Paschke R. The hinge region: an important receptor component for GPHR function. Trends Endocrinol Metab. 2010;21(2):111-122.
Du J, Zhang W, Guo L, et al. Two FSHR variants, haplotypes and meta-analysis in Chinese women with premature ovarian failure and polycystic ovary syndrome. Mol Gen Metab. 2010;100(3):292-295.
Orio F, Ferrarini E, Cascella T, et al. Genetic analysis of the follicle stimulating hormone receptor gene in women with polycystic ovary syndrome. J Endocrinol Invest. 2006;29:975-982.
Gu BH, Park JM, Baek KH. Genetic variations of follicle stimulating hormone receptor are associated with polycystic ovary syndrome. Int J Mol Med. 2010;26(1):107-112.
Dolfin E, Guani B, Lussiana C, Mari C, Restagno G, Revelli A. FSH-receptor Ala307Thr polymorphism is associated to polycystic ovary syndrome and to a higher responsiveness to exogenous FSH in Italian women. J Assist Reprod Genet. 2011;28:925-930.
Lussiana C, Guani B, Mari C, Restagno G, Massobrio M, Revelli A. Mutations and polymorphisms of the FSH receptor (FSHR) gene: clinical implications in female fecundity and molecular biology of FSHR protein and gene. Obstet Gynecol Surv. 2008;63(12):785-795.
Waterhouse AM, Procter JB, Martin DMA, Clamp M, Barton GJ. Jalview version 2-a multiple sequence alignment editor and analysis workbench. Bioinformatics. 2009;25(9):1189-1191.
Abraham MJ, Murtola T, Schulz R, et al. GROMACS: high performance molecular simulations through multi-level parallelism from laptops to supercomputers. SoftwareX. 2015;1-2:19-25.
Amin A, Lone A, Farooq F, Wani UM, Kawoosa F, Qadri RA. Identification of novel inhibitors of tetranectin-plasminogen interaction to suppress breast cancer invasion: an integrated computational and cell-based investigation. J Biomol Struct Dyn. 2023:1-10. doi:10.1080/07391102.2023.2187228
Vanommeslaeghe K, Hatcher E, Acharya C, et al. CHARMM general force field: a force field for drug-like molecules compatible with the CHARMM all-atom additive biological force fields. J Comput Chem. 2010;31(4):671-690.
Hess B, Bekker H, Berendsen HJC, Fraaije JGEM. LINCS: a linear constraint solver for molecular simulations. J Comput Chem. 1997;18(12):1463-1472.
Essmann U, Perera L, Berkowitz ML, Darden T, Lee H, Pedersen LG. A smooth particle mesh Ewald method. J Chem Phys. 1995;103(19):8577-8593.
Baker NA, Sept D, Joseph S, Holst MJ, McCammon JA. Electrostatics of nanosystems: application to microtubules and the ribosome. Proc Natl Acad Sci. 2001;98(18):10037-10041.
Kumari R, Kumar R, Open Source Drug Discovery C, Lynn A. g_mmpbsa-a GROMACS tool for high-throughput MM-PBSA calculations. J Chem Inf Model. 2014;54(7):1951-1962.
Amadei A, Linssen ABM, Berendsen HJC. Essential dynamics of proteins. Proteins Struct Funct Genet. 1993;17(4):412-425.
Laven JSE, Mulders AGMGJ, Suryandari DA, et al. Follicle-stimulating hormone receptor polymorphisms in women with normogonadotropic anovulatory infertility. Fertil Steril. 2003;80(4):986-992.