A single nucleotide polymorphism in BMP15 is associated with high response to ovarian stimulation

Hanevik, Hans Ivar; Hilmarsen, Hilde Tveitan; Skjelbred, Camilla Furu; Tanbo, Tom; Kahn, Jarl A.

doi:10.1016/j.rbmo.2011.02.015

Cited by 44 publications

(40 citation statements)

References 34 publications

(47 reference statements)

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“…A study of 398 polycystic ovary syndrome (PCOS) women showed that, although the c.-9C>G variant was not related to disease pathogenesis, it might have been associated with specific clinical features, such as infertility (Gónzalez et al, 2008). Additionally, the c.-9C/G alleles have been related to differential ovarian response to recombinant FSH (rFSH) during assisted reproduction techniques, as the G allele has been linked to high responders Hanevik et al, 2011;Morón et al, 2006).…”

Section: Discussionmentioning

confidence: 99%

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

Fonseca

Ortega‐Recalde

Esteban-Pérez

et al. 2014

Reproductive BioMedicine Online

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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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Section: Discussionmentioning

confidence: 99%

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

Fonseca

Ortega‐Recalde

Esteban-Pérez

et al. 2014

Reproductive BioMedicine Online

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“…Similarly, while mutations in BMPR1B were observed in MODZT, they were only marginally associated with increased twinning (Luong et al 2011). Similar to the increased responsiveness to gonadotrophins observed in sheep heterozygous for a BMP15 mutation or homozygous for the BMPR1B mutation (McNatty et al 2006a), mutations in the human population in BMP15 have also been linked weakly to a higher response to FSH (Moron et al 2006, Hanevik et al 2011. In addition, the expression patterns for BMP15 and GDF9, as well as their receptors, are similar between sheep and humans .…”

Section: Mechanisms Of Action Of Gdf9 and Bmp15 And The Involvement Omentioning

confidence: 90%

Using sheep lines with mutations in single genes to better understand ovarian function

Juengel¹,

Davis²,

McNatty³

2013

Reproduction

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Livestock populations have been subjected to strong selection pressure to improve reproductive success, and this has led to the identification of lines of animals with increased fecundity. These animals provide a rich biological resource for discovery of genes and regulatory mechanisms that underpin improved reproductive success. To date, three genes, all related to the transforming growth factor b pathway, have been identified as having mutations that lead to alterations in ovulation in sheep. In addition, several other sheep lines have been identified with putative mutations in single genes with major effects on ovulation rate. This review is focused on the identification of the mutations affecting ovulation rate and how these discoveries have provided new insights into control of ovarian function.Reproduction (2013) 146 R111-R123

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“…This mutation in BMP15 is a rare example of X-linked human disease only in females who inherited the variant from an apparently unaffected father. Other variations and mutations in BMP15 have been recently reported in all cases associated with POF or ovarian hyperstimulation syndrome [Cordts et al, 2011;Hanevik et al, 2011]. It would be of interest to identify other mutations in BMP15 associated with 46,XX ovarian dysgenesis, to understand the mechanism of BM15 action in the development of human gonad.…”

Section: Gene Mutations Associated With Nonsyndromic 46xx Ovarian Dymentioning

confidence: 98%

Gene Mutations Associated with Anomalies of Human Gonad Formation

Bashamboo

McElreavey²

2012

Sex Dev

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Here, we discuss recent progress on our understanding of the genetic anomalies that impact directly on the specification and development of the somatic cell compartment of the human gonad. Several new genes and pathways have been identified in the last 5 years associated with human disorders of sex development (DSD). New methods and analytical approaches, including comparative genomic hybridization and next-generation sequencing technologies, are beginning to provide deeper insights into the complexities and alterations of the genetic architecture that are associated with human DSD. The challenges as well as the research opportunities for the future are highlighted as efforts are made to bridge the gap between an increasing quantity of genetic information and the underlying biology.

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A single nucleotide polymorphism in BMP15 is associated with high response to ovarian stimulation

Cited by 44 publications

References 34 publications

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

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

Using sheep lines with mutations in single genes to better understand ovarian function

Gene Mutations Associated with Anomalies of Human Gonad Formation

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