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BMP15 c.-9C>G promoter sequence variant may contribute to the cause of non-syndromic premature ovarian failure.
Fonseca, Dora Janeth; Ortega-Recalde, Oscar; Esteban-Perez, Clara; Moreno-Ortiz, Harold; Patiño, Liliana Catherine; Bermúdez, Olga María; Ortiz, Angela María; Restrepo, Carlos M; Lucena, Elkin; Laissue, Paul.
Afiliação
  • Fonseca DJ; Unidad de Genética, Grupo GENIUROS, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogotá, Colombia; Departamento de Fertilidad Humana, Genética Molecular de Colombia, Bogotá, Colombia.
  • Ortega-Recalde O; Unidad de Genética, Grupo GENIUROS, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogotá, Colombia.
  • Esteban-Perez C; Department of Reproductive Genetics, Fertility and Sterility Colombian Center, Bogotá, Colombia.
  • Moreno-Ortiz H; Department of Reproductive Genetics, Fertility and Sterility Colombian Center, Bogotá, Colombia.
  • Patiño LC; Unidad de Genética, Grupo GENIUROS, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogotá, Colombia.
  • Bermúdez OM; Unidad de Genética, Grupo GENIUROS, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogotá, Colombia.
  • Ortiz AM; Unidad de Genética, Grupo GENIUROS, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogotá, Colombia.
  • Restrepo CM; Unidad de Genética, Grupo GENIUROS, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogotá, Colombia; Departamento de Fertilidad Humana, Genética Molecular de Colombia, Bogotá, Colombia.
  • Lucena E; Unidad de Genética, Grupo GENIUROS, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogotá, Colombia.
  • Laissue P; Unidad de Genética, Grupo GENIUROS, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogotá, Colombia; Departamento de Fertilidad Humana, Genética Molecular de Colombia, Bogotá, Colombia. Electronic address: paul.laissue@urosario.edu.co.
Reprod Biomed Online ; 29(5): 627-33, 2014 Nov.
Article em En | MEDLINE | ID: mdl-25246117
BMP15 has drawn particular attention in the pathophysiology of reproduction, as its mutations in mammalian species have been related to different reproductive phenotypes. In humans, BMP15 coding regions have been sequenced in large panels of women with premature ovarian failure (POF), but only some mutations have been definitely validated as causing the phenotype. A functional association between the BMP15 c.-9C>G promoter polymorphism and cause of POF have been reported. The aim of this study was to determine the potential functional effect of this sequence variant on specific BMP15 promoter transactivation disturbances. Bioinformatics was used to identify transcription factor binding sites located on the promoter region of BMP15. Reverse transcription polymerase chain reaction was used to study specific gene expression in ovarian tissue. Luciferase reporter assays were used to establish transactivation disturbances caused by the BMP15 c.-9C>G variant. The c.-9C>G variant was found to modify the PITX1 transcription factor binding site. PITX1 and BMP15 co-expressed in human and mouse ovarian tissue, and PITX1 transactivated both BMP15 promoter versions (-9C and -9G). It was found that the BMP15 c.-9G allele was related to BMP15 increased transcription, supporting c.-9C>G as a causal agent of POF.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ovário / Regiões Promotoras Genéticas / Insuficiência Ovariana Primária / Polimorfismo de Nucleotídeo Único / Proteína Morfogenética Óssea 15 Tipo de estudo: Prognostic_studies Limite: Animals / Female / Humans Idioma: En Revista: Reprod Biomed Online Assunto da revista: MEDICINA REPRODUTIVA Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Colômbia País de publicação: Holanda
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ovário / Regiões Promotoras Genéticas / Insuficiência Ovariana Primária / Polimorfismo de Nucleotídeo Único / Proteína Morfogenética Óssea 15 Tipo de estudo: Prognostic_studies Limite: Animals / Female / Humans Idioma: En Revista: Reprod Biomed Online Assunto da revista: MEDICINA REPRODUTIVA Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Colômbia País de publicação: Holanda