Germline mutation analysis of Tpit in Poodle dogs with ACTH-dependent hyperadrenocorticism
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.
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Universidade Federal de Minas Gerais, Escola de Veterinária
2012
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oai:scielo:S0102-093520120004000102012-08-31Germline mutation analysis of Tpit in Poodle dogs with ACTH-dependent hyperadrenocorticismDe Marco,V.Carvalho,L.R.Billerbeck,A.E.C.Mendonça,B.B. dog ACTH-dependent hyperadrenocorticism Tpit mutation 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.info:eu-repo/semantics/openAccessUniversidade Federal de Minas Gerais, Escola de VeterináriaArquivo Brasileiro de Medicina Veterinária e Zootecnia v.64 n.4 20122012-08-01info:eu-repo/semantics/articletext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0102-09352012000400010en10.1590/S0102-09352012000400010 |
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| author |
De Marco,V. Carvalho,L.R. Billerbeck,A.E.C. Mendonça,B.B. |
| spellingShingle |
De Marco,V. Carvalho,L.R. Billerbeck,A.E.C. Mendonça,B.B. Germline mutation analysis of Tpit in Poodle dogs with ACTH-dependent hyperadrenocorticism |
| author_facet |
De Marco,V. Carvalho,L.R. Billerbeck,A.E.C. Mendonça,B.B. |
| author_sort |
De Marco,V. |
| title |
Germline mutation analysis of Tpit in Poodle dogs with ACTH-dependent hyperadrenocorticism |
| title_short |
Germline mutation analysis of Tpit in Poodle dogs with ACTH-dependent hyperadrenocorticism |
| title_full |
Germline mutation analysis of Tpit in Poodle dogs with ACTH-dependent hyperadrenocorticism |
| title_fullStr |
Germline mutation analysis of Tpit in Poodle dogs with ACTH-dependent hyperadrenocorticism |
| title_full_unstemmed |
Germline mutation analysis of Tpit in Poodle dogs with ACTH-dependent hyperadrenocorticism |
| title_sort |
germline mutation analysis of tpit in poodle dogs with acth-dependent hyperadrenocorticism |
| description |
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. |
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Universidade Federal de Minas Gerais, Escola de Veterinária |
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2012 |
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http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0102-09352012000400010 |
| work_keys_str_mv |
AT demarcov germlinemutationanalysisoftpitinpoodledogswithacthdependenthyperadrenocorticism AT carvalholr germlinemutationanalysisoftpitinpoodledogswithacthdependenthyperadrenocorticism AT billerbeckaec germlinemutationanalysisoftpitinpoodledogswithacthdependenthyperadrenocorticism AT mendoncabb germlinemutationanalysisoftpitinpoodledogswithacthdependenthyperadrenocorticism |
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