An activating mutation in the CRHR1 gene is rarely associated with pituitary-dependent hyperadrenocorticism in poodles

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorDE-MARCO, Viviani
dc.contributor.authorCARVALHO, Luciani R.
dc.contributor.authorGUZZO, Mariana F.
dc.contributor.authorOLIVEIRA, Paulo S. L.
dc.contributor.authorGOMES, Larissa G.
dc.contributor.authorMENDONCA, Berenice B.
dc.date.accessioned2017-12-12T13:14:24Z
dc.date.available2017-12-12T13:14:24Z
dc.date.issued2017
dc.description.abstractOBJECTIVES: Pituitary-dependent hyperadrenocorticism is the most common cause of naturally occurring hypercortisolism in dogs. CRHR1 expression in human and dog corticotrophinomas suggested that this gene affects pituitary tumorigenesis. The present study aimed to investigate mutations in the CRHR1 coding region in poodles with pituitary-dependent hyperadrenocorticism. METHODS: Fifty poodles with pituitary-dependent hyperadrenocorticism and 50 healthy poodles were studied. Genomic DNA was amplified by PCR and analyzed by Sanger sequencing. RESULTS: The novel CRHR1 p.V97M mutation was identified in one dog. This valine residue, located in the amino-terminal extracellular domain, exhibits high affinity for its corticotropin-releasing hormone (CRH) ligand. Bioinformatic analysis revealed structural rearrangements in the mutant protein, with a 17% increase in the surface binding affinity between CRHR1 and CRH. In vitro functional studies showed that mutant CRHR1 induced higher ACTH secretion than the wild type after stimulation with human CRH. CONCLUSION: These results suggest that germline activating mutations in CRHR1 may be a rare cause of pituitary hyperadrenocorticism in poodles.
dc.description.indexMEDLINE
dc.identifier.citationCLINICS, v.72, n.9, p.575-581, 2017
dc.identifier.doi10.6061/clinics/2017(09)09
dc.identifier.eissn1980-5322
dc.identifier.issn1807-5932
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/24188
dc.language.isoeng
dc.publisherHOSPITAL CLINICAS, UNIV SAO PAULO
dc.relation.ispartofClinics
dc.rightsopenAccess
dc.rights.holderCopyright HOSPITAL CLINICAS, UNIV SAO PAULO
dc.subjectHyperadrenocorticism
dc.subjectCRHR1
dc.subjectMutation
dc.subjectCushing's Disease
dc.subjectDogs
dc.subject.othercorticotropin-releasing-factor
dc.subject.othern-terminal domain
dc.subject.otherprotein-coupled receptors
dc.subject.othercushings-disease
dc.subject.otherin-vitro
dc.subject.othercanine hyperadrenocorticism
dc.subject.otherligand-binding
dc.subject.otheradenoma cells
dc.subject.otherhormone
dc.subject.otherdogs
dc.subject.wosMedicine, General & Internal
dc.titleAn activating mutation in the CRHR1 gene is rarely associated with pituitary-dependent hyperadrenocorticism in poodles
dc.typearticle
dc.type.categoryoriginal article
dc.type.versionpublishedVersion
dspace.entity.typePublication
hcfmusp.author.externalDE-MARCO, Viviani:Univ Sao Paulo, Unidade Endocrinol Desenvolvimento, Lab Hormonios & Genet Mol LIM 42, Fac Med FMUSP, Sao Paulo, SP, Brazil; Univ Santo Amaro, Curso Med Vet, Sao Paulo, SP, Brazil
hcfmusp.author.externalGUZZO, Mariana F.:Univ Sao Paulo, Unidade Endocrinol Desenvolvimento, Lab Hormonios & Genet Mol LIM 42, Fac Med FMUSP, Sao Paulo, SP, Brazil
hcfmusp.author.externalOLIVEIRA, Paulo S. L.:Lab Nacl Biociencias LNBio, Campinas, SP, Brazil
hcfmusp.citation.scopus1
hcfmusp.contributor.author-fmusphcLUCIANI RENATA SILVEIRA DE CARVALHO
hcfmusp.contributor.author-fmusphcLARISSA GARCIA GOMES
hcfmusp.contributor.author-fmusphcBERENICE BILHARINHO DE MENDONCA
hcfmusp.description.beginpage575
hcfmusp.description.endpage581
hcfmusp.description.issue9
hcfmusp.description.volume72
hcfmusp.origemWOS
hcfmusp.origem.pubmed29069262
hcfmusp.origem.scieloSCIELO:S1807-59322017000900575
hcfmusp.origem.scopus2-s2.0-85032493080
hcfmusp.origem.wosWOS:000413649800009
hcfmusp.publisher.citySAO PAULO
hcfmusp.publisher.countryBRAZIL
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