Analyses of growth differentiation factor 9 (GDF9) and bone morphogenetic protein 15 (BMP15) mutation in Chinese women with premature ovarian failure

Wang, Binbin; Wen, Qiaolian; Ni, Feng; Zhou, Sirui; Wang, Jing; Cao, Yunxia; Ma, Xu

doi:10.1111/j.1365-2265.2009.03613.x

Cited by 46 publications

(26 citation statements)

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“…In contrast, BMP15 p.Y235C was unable to increase GC proliferation, as previously shown (143). Several other variants have been further identified with variable frequency in worldwide POI cohorts (145)(146)(147)(148)(149)(150)(151). Almost all of the identified BMP15 variants are missense substitutions found in the heterozygous state and located in the gene sequence encoding the pro-region of the protein which lead to hampered processing, together with an important reduction in their biological functions (149).…”

Section: Bone Morphogenetic Protein 15mentioning

confidence: 85%

Genetics of primary ovarian insufficiency

et al. 2016

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Primary ovarian insufficiency (POI) is characterized by a loss of ovarian function before the age of 40 and account for one major cause of female infertility. POI relevance is continuously growing because of the increasing number of women desiring conception beyond 30 years of age, when POI prevalence is >1%. POI is highly heterogeneous and can present with ovarian dysgenesis and primary amenorrhea, or with secondary amenorrhea, and it can be associated with other congenital or acquired abnormalities. In most cases POI remains classified as idiopathic. However, the age of menopause is an inheritable trait and POI has a strong genetic component. This is confirmed by the existence of several candidate genes, experimental and natural models. The variable expressivity of POI defect may indicate that, this disease may frequently be considered as a multifactorial or oligogenic defect. The most common genetic contributors to POI are the X chromosome‐linked defects. Here, we review the principal X‐linked and autosomal genes involved in syndromic and non‐syndromic forms of POI with the expectation that this list will soon be upgraded, thus allowing the possibility to predict the risk of an early age at menopause in families with POI.

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Section: Bone Morphogenetic Protein 15mentioning

confidence: 85%

Genetics of primary ovarian insufficiency

et al. 2016

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“…Our group and others have undertaken massive Sanger sequencing projects of the BMP15 encoding region in panels of POF patients during the last 10 years which have led to identifying more than 15 missense variants (Persani et al, 2014 and references therein). All of them were located in the protein's pro-region, except for c.13A>C, (p.Ser5Arg) and c. 985C>T (p.Arg329Cys) which affected the signal peptide and the mature domain, respectively (Lakhal et al, 2009(Lakhal et al, , 2010Rossetti et al, 2009;Wang et al, 2010).…”

Section: Bmp15 (Gdf9b)mentioning

confidence: 98%

Aetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencing

Laissue

2015

Molecular and Cellular Endocrinology

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Premature ovarian failure (POF) is a frequent pathology affecting 1-1.5% of women under 40 years old. Despite advances in diagnosing and treating human infertility, POF is still classified as being idiopathic in 50-80% of cases, strongly suggesting a genetic origin for the disease. Different types of autosomal and X-linked genetic anomalies can originate the phenotype in syndromic and non-syndromic POF cases. Particular interest has been focused on research into non-syndromic POF causative coding variants during the past two decades. This has been based on the assumption that amino acid substitutions might modify the intrinsic physicochemical properties of functional proteins, thereby inducing pathological phenotypes. In this case, a restricted number of mutations might originate the disease. However, like other complex pathologies, POF might result from synergistic/compensatory effects caused by several low-to-mildly drastic mutations which have frequently been classified as non-functional SNPs. Indeed, reproductive phenotypes can be considered as quantitative traits resulting from the subtle interaction of many genes. Although numerous sequencing projects have involved candidate genes, only a few coding mutations explaining a low percentage of cases have been described. Such apparent failure to identify aetiological coding sequence variations might have been due to the inherent molecular complexity of mammalian reproduction and to the difficulty of simultaneously analysing large genomic regions by Sanger sequencing. The purpose of this review is to present the molecular and cellular effects caused by non-synonymous mutations which have been formally associated, by functional tests, with the aetiology of hypergonadotropic non-syndromic POF. Considerations have also been included regarding the polygenic nature of reproduction and POF, as well as future approaches for identifying novel aetiological genes based on next generation sequencing (NGS).

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“…The genetic screening to a large series of unrelated women with primary or secondary amenorrhea due to idiopathic POF identified new BMP15 non-synonymous variants affecting 4.2% of 46,XX POF population (22). Other variants in the BMP15 gene of patients with POF in Caucasian, Indian and Chinese populations have been identified (23)(24)(25)(26). Recent publication showed that some of these variants were associated with a marked reduction of mature protein production (27).…”

Section: Introductionmentioning

confidence: 96%

Investigation of some genetic variations in BMP15 accompanied with premature ovarian failure (POF) in Syrian women

Al-Ajoury

Kassem

Al‐Halabi

et al. 2015

Middle East Fertility Society Journal

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Background: Premature ovarian failure (POF) is a primary ovarian defect characterized by absent menarche or premature depletion of ovarian follicles. Bone morphogenetic protein 15 (BMP15) is an oocyte-derived growth factor acting as a major player in follicle differentiation in mammals. Mutations in this gene, lead to defective secretion of bioactive dimmers. The present study was to verify the involvement of BMP15 variations in POF women in Syria.Results: Genetic screening of 65 patients with POF, 55 primary amenorrhea (PA), 10 secondary amenorrhea (SA) and 100 controls of Syrian origin was done. Five variants in six patients were observed, including two missense substitutions: p. N103S

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Analyses of growth differentiation factor 9 (GDF9) and bone morphogenetic protein 15 (BMP15) mutation in Chinese women with premature ovarian failure

Cited by 46 publications

References 5 publications

Genetics of primary ovarian insufficiency

Genetics of primary ovarian insufficiency

Aetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencing

Investigation of some genetic variations in BMP15 accompanied with premature ovarian failure (POF) in Syrian women

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