BMP15 c.-9C>G promoter sequence variant may contribute to the cause of non-syndromic premature ovarian failure

Dora Janeth Fonseca, Oscar Ortega-Recalde, Clara Esteban-Perez, Harold Moreno-Ortiz, Liliana Catherine Patiño, Olga María Bermúdez, Angela María Ortiz, Carlos M. Restrepo, Elkin Lucena, Paul Laissue

Resultado de la investigación: Contribución a RevistaArtículo

12 Citas (Scopus)

Resumen

© 2014 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.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.
Idioma originalEnglish (US)
Páginas (desde-hasta)627 - 633
Número de páginas6
PublicaciónReproductive BioMedicine Online
Volumen29
N.º5
DOI
EstadoPublished - 2014

Huella dactilar

Primary Ovarian Insufficiency
Transcriptional Activation
Transcription Factors
Binding Sites
Phenotype
Mutation
Computational Biology
Luciferases
Genetic Promoter Regions
Reverse Transcription
Reproduction
Alleles
Delivery of Health Care
Gene Expression
Polymerase Chain Reaction

Citar esto

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. / BMP15 c.-9C>G promoter sequence variant may contribute to the cause of non-syndromic premature ovarian failure. En: Reproductive BioMedicine Online. 2014 ; Vol. 29, N.º 5. pp. 627 - 633.
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abstract = "{\circledC} 2014 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.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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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.

En: Reproductive BioMedicine Online, Vol. 29, N.º 5, 2014, p. 627 - 633.

Resultado de la investigación: Contribución a RevistaArtículo

TY - JOUR

T1 - BMP15 c.-9C>G promoter sequence variant may contribute to the cause of non-syndromic premature ovarian failure

AU - Fonseca, Dora Janeth

AU - Ortega-Recalde, Oscar

AU - Esteban-Perez, Clara

AU - Moreno-Ortiz, Harold

AU - Patiño, Liliana Catherine

AU - Bermúdez, Olga María

AU - Ortiz, Angela María

AU - Restrepo, Carlos M.

AU - Lucena, Elkin

AU - Laissue, Paul

PY - 2014

Y1 - 2014

N2 - © 2014 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.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.

AB - © 2014 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.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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DO - 10.1016/j.rbmo.2014.07.018

M3 - Article

C2 - 25246117

VL - 29

SP - 627

EP - 633

JO - Reproductive BioMedicine Online

JF - Reproductive BioMedicine Online

SN - 1472-6483

IS - 5

ER -