TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction

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dc.contributor.authorTopaloğlu, Ali Kemal
dc.contributor.authorReimann, Frank
dc.contributor.authorYalın, Ayşe Serap
dc.contributor.authorKotan, Leman Damla
dc.contributor.authorPorter, Keith
dc.contributor.authorSerin, Ayşe
dc.contributor.authorMungan, Neslihan Önenli
dc.contributor.authorCook, Joshua R.
dc.contributor.authorÖzbek, Mehmet Nuri
dc.contributor.authorAkalın, Nefise Sema
dc.contributor.authorYüksel, Bilgin
dc.contributor.authorO'Rahilly, Stephen
dc.contributor.authorSemple, Robert
dc.contributor.buuauthorGüçlü, Metin
dc.contributor.buuauthorİmamoğlu, Şazi
dc.contributor.departmentUludağ Üniversitesi/ Tıp Fakültesi/ Endokrinoloji ve Metabolizma Anabilim Dalı.tr_TR
dc.contributor.researcheridABI-4847-2020tr_TR
dc.contributor.scopusid15073842600tr_TR
dc.contributor.scopusid6602297533tr_TR
dc.date.accessioned2021-10-19T09:11:17Z
dc.date.available2021-10-19T09:11:17Z
dc.date.issued2009-03
dc.description.abstractThe timely secretion of gonadal sex steroids is essential for the initiation of puberty, the postpubertal maintenance of secondary sexual characteristics and the normal perinatal development of male external genitalia. Normal gonadal steroid production requires the actions of the pituitary-derived gonadotropins, luteinizing hormone and follicle-stimulating hormone. We report four human pedigrees with severe congenital gonadotropin deficiency and pubertal failure in which all affected individuals are homozygous for loss-of-function mutations in TAC3 (encoding Neurokinin B) or its receptor TACR3 (encoding NK3R). Neurokinin B, a member of the substance P-related tachykinin family, is known to be highly expressed in hypothalamic neurons that also express kisspeptin(1), a recently identified regulator of gonadotropin-releasing hormone secretion(2). These findings implicate Neurokinin B as a critical central regulator of human gonadal function and suggest new approaches to the pharmacological control of human reproduction and sex hormone-related diseases.en_US
dc.description.sponsorshipÇukurova Üniversitesi (106S276)tr_TR
dc.description.sponsorshipÇukurova Üniversitesi (TF-2006-BAP20)tr_TR
dc.description.sponsorshipWellcome Trust European Commission (080952/Z/06/Z)en_US
dc.description.sponsorshipSenior Basic Science Fellowship (078986/Z/06/Z)en_US
dc.description.sponsorshipNational Institute for Health Research (NIHR)en_US
dc.description.sponsorshipSt. John's College, Cambridge, UKen_US
dc.description.sponsorshipUK Research & Innovation (UKRI) Medical Research Council UK (MRC) European Commission (G0600717B)en_US
dc.identifier.citationTopaloglu, A. K. vd. (2009). " TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction ". Nature Genetics, 41(3), 354-358.en_US
dc.identifier.endpage358tr_TR
dc.identifier.issn1061-4036
dc.identifier.issue3tr_TR
dc.identifier.pubmed19079066tr_TR
dc.identifier.scopus2-s2.0-61349091041tr_TR
dc.identifier.startpage354tr_TR
dc.identifier.urihttps://doi.org/10.1038/ng.306
dc.identifier.urihttps://www.nature.com/articles/ng.306
dc.identifier.urihttp://hdl.handle.net/11452/22407
dc.identifier.volume41tr_TR
dc.identifier.wos000263640200018tr_TR
dc.indexed.pubmedPubmeden_US
dc.indexed.scopusScopusen_US
dc.indexed.wosSCIEen_US
dc.language.isoenen_US
dc.publisherNature Researchen_US
dc.relation.collaborationYurt içitr_TR
dc.relation.collaborationYurt dışıtr_TR
dc.relation.journalNature Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergitr_TR
dc.relation.tubitakTÜBİTAKtr_TR
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectArcuate nucleusen_US
dc.subjectTachykinin receptorsen_US
dc.subjectMorphologic evidenceen_US
dc.subjectRat hypothalamusen_US
dc.subjectHormone neuronsen_US
dc.subjectExpressionen_US
dc.subjectDynorphinen_US
dc.subjectMiceen_US
dc.subjectKisspeptinen_US
dc.subjectDeficiencyen_US
dc.subjectGenetics & heredityen_US
dc.subject.emtreeFollitropinen_US
dc.subject.emtreeGonadotropinen_US
dc.subject.emtreeKisspeptinen_US
dc.subject.emtreeLuteinizing hormoneen_US
dc.subject.emtreeNeurokinin Ben_US
dc.subject.emtreeSex hormoneen_US
dc.subject.emtreeArticleen_US
dc.subject.emtreeCell strain HEK293en_US
dc.subject.emtreeFamilial diseaseen_US
dc.subject.emtreeFemaleen_US
dc.subject.emtreeGeneen_US
dc.subject.emtreeGene mutationen_US
dc.subject.emtreeGenital systemen_US
dc.subject.emtreeGonad functionen_US
dc.subject.emtreeGonadotropin deficiencyen_US
dc.subject.emtreeHomozygosityen_US
dc.subject.emtreeHormonal regulationen_US
dc.subject.emtreeHormone releaseen_US
dc.subject.emtreeHumanen_US
dc.subject.emtreeHuman cellen_US
dc.subject.emtreeHypogonadotropic hypogonadismen_US
dc.subject.emtreeLoss of function mutationen_US
dc.subject.emtreeMaleen_US
dc.subject.emtreeMissense mutationen_US
dc.subject.emtreeNucleotide sequenceen_US
dc.subject.emtreePerinatal developmenten_US
dc.subject.emtreePriority journalen_US
dc.subject.emtreeProtein expressionen_US
dc.subject.emtreeProtein functionen_US
dc.subject.emtreePuberty disordersen_US
dc.subject.emtreeReproductionen_US
dc.subject.emtreeSexual developmenten_US
dc.subject.emtreeTAC3 geneen_US
dc.subject.emtreeTACR3 geneen_US
dc.subject.meshAmino acid sequenceen_US
dc.subject.meshChromosomes, human, pair 4en_US
dc.subject.meshDNA mutational analysisen_US
dc.subject.meshFamilyen_US
dc.subject.meshGonadsen_US
dc.subject.meshHumansen_US
dc.subject.meshHypogonadismen_US
dc.subject.meshModels, biologicalen_US
dc.subject.meshMutationen_US
dc.subject.meshNeurokinin Ben_US
dc.subject.meshNeuronsen_US
dc.subject.meshPedigreeen_US
dc.subject.meshReceptors, neurokinin-3en_US
dc.subject.meshReproductionen_US
dc.subject.meshSequence homology, amino aciden_US
dc.subject.meshTumor suppressor proteinsen_US
dc.subject.scopusKisspeptins; Human KISS1 Protein; Neurokinin Ben_US
dc.subject.wosGenetics & heredityen_US
dc.titleTAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproductionen_US
dc.typeArticle
dc.wos.quartileQ1en_US

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