Germline mutation analysis of Tpit in Poodle dogs with ACTH-dependent hyperadrenocorticism

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dc.contributor Sistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.author MARCO, V. De FMUSP-HC
CARVALHO, L. R.
BILLERBECK, A. E. C. FMUSP-HC
MENDONCA, B. B. FMUSP-HC
dc.date.issued 2012
dc.identifier.citation ARQUIVO BRASILEIRO DE MEDICINA VETERINARIA E ZOOTECNIA, v.64, n.4, p.853-859, 2012
dc.identifier.issn 0102-0935
dc.identifier.uri http://observatorio.fm.usp.br/handle/OPI/519
dc.description.abstract There is a high incidence of pituitary-dependent hyperadrenocorticism (PDH) in Poodle dogs, with family members being affected by the disease, suggesting a genetic involvement. Tpit is an obligate transcription factor for the expression of pro-opiomelanocortingene and for corticotroph terminal differentiation. The aim of the present study was to screen the Tpit gene for germline mutations in Poodles with PDH. Fifty Poodle dogs (33 female, 8.71 +/- 2.8 years) with PDH and 50 healthy Poodle dogs (32 females, 9.4241 2.8 years) were studied. Genomic DNA was isolated from peripheral blood, amplified by PCR and submitted to automatic sequence. No mutation in the coding region of Tpit was found, whereas the new single nucleotide polymorphism p.S343G, in heterozygous state, was found in the same frequency in both PDH and control groups. We concluded that Tpit gain-of-function mutations are not involved in the etiology of PDH in Poodle dogs.
dc.description.abstract O hiperadrenocorticismo ACTH-dependente (HACAD) apresenta elevada incidência em cães da raça Poodle, sendo que membros da mesma família têm sido acometidos pela doença, sugerindo envolvimento genético. Tpit é um fator de transcrição obrigatório para a expressão do gene da pro-opiomelanocortina e para a diferenciação terminal dos corticotrofos. O objetivo deste trabalho foi pesquisar mutações germinativas no gene Tpit em Poodles com HACAD. Cinquenta cães da raça Poodle, 33 fêmeas, média de idade de 8,71±2,8 anos, com HACAD, e 50 cães Poodles saudáveis, 32 fêmeas, média de idade de 9,4±2,8 anos, foram estudados. Mutações na região codificadora do gene Tpit não foram identificadas. Foi observado um novo polimorfismo em heterozigose, p.S343G, com a mesma frequência no grupo de cães com HACAD e no grupo-controle. Conclui-se que a mutação ativadora no gene Tpit não está envolvida na patogênese do hiperadrenocorticismo ACTH-dependente em cães da raça Poodle.
dc.language.iso eng
dc.publisher ARQUIVO BRASILEIRO MEDICINA VETERINARIA ZOOTECNIA
dc.relation.ispartof Arquivo Brasileiro de Medicina Veterinaria e Zootecnia
dc.rights openAccess
dc.subject dog; ACTH-dependent hyperadrenocorticism; mutation; cão; hiperadrenocorticismo ACTH-dependente; Tpit; mutação
dc.subject.other canine hyperadrenocorticism; early-onset; pituitary; gene; deficiency; diagnosis; family; expression; adenomas; cells
dc.title Germline mutation analysis of Tpit in Poodle dogs with ACTH-dependent hyperadrenocorticism
dc.title.alternative Análise de mutação germinativa do Tpit em cães da raça Poodle com hiperadrenocorticismo ACTH-dependente
dc.type article
dc.rights.holder Copyright ARQUIVO BRASILEIRO MEDICINA VETERINARIA ZOOTECNIA
dc.description.group LIM/42
dc.identifier.doi 10.1590/S0102-09352012000400010
dc.type.category original article
dc.type.version publishedVersion
hcfmusp.author MARCO, V. De:FM:
hcfmusp.author BILLERBECK, A. E. C.:HC:ICHC
hcfmusp.author MENDONCA, B. B.:FM:MCM
hcfmusp.author.external · CARVALHO, L. R.:Univ Sao Paulo, Fac Med, Sao Paulo, Brazil
hcfmusp.origem.id WOS:000308369500010
hcfmusp.origem.id 2-s2.0-84871275776
hcfmusp.publisher.city MINAS GERAIS
hcfmusp.publisher.country BRAZIL
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dc.description.index WoS
hcfmusp.citation.scopus 0
hcfmusp.citation.wos 0
hcfmusp.affiliation.country Brasil


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