Variation in bone morphogenetic protein 15 is not associated with spontaneous human dizygotic twinning

Zhao, Zhen; Painter, Jodie N.; Palmer, Jodie; Webb, Penelope M.; Hayward, Nicholas K.; Whiteman, David C.; Boomsma, Dorret I.; Martin, Nicholas G.; Duffy, David L.; Montgomery, Grant W.

doi:10.1093/humrep/den268

Cited by 31 publications

(23 citation statements)

References 40 publications

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“…While variation in BMP15 was not found to be a major underlying cause of dizygotic twinning in humans, three rare mutations were observed in mothers of spontaneous dizygotic twins (MODZT) but not in controls. However, association between these mutations and twinning could not be established (Zhao et al 2008). Similarly, while mutations in BMPR1B were observed in MODZT, they were only marginally associated with increased twinning (Luong et al 2011).…”

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

confidence: 89%

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

confidence: 89%

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

Juengel¹,

Davis²,

McNatty³

2013

Reproduction

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“…However it was also found in an unaffected sister of one of the patients described by Ledig et al [19], and among Spanish patients with proven fertility and menopause occurring after 40 years [38]. More recently this variant was identified in a group of mothers of dizygotic twins and in a control group at a comparably low allele frequency suggesting that it could correspond to a rare polymorphism [39]. Accordingly, in vitro functional studies using luciferase-reporter assay showed no effect of the mutant protein [22].…”

Section: Discussionmentioning

confidence: 77%

Clinical characteristics and genetic analysis in women with premature ovarian insufficiency

et al. 2013

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“…GDF-9 is located on an autosome [25], and will be discussed in detail later. BMP-15 gene is located at Xp11.2 within the Xp POF critical region [42,43] [48]. Impaired posttranslational proprotein processing of the BMP-15 and/or GDF-9 proteins results in reduced mature protein levels, and is associated with increased ovulation rate and litter size.…”

Section: Poi Genes On X Chromosomementioning

confidence: 99%

An update on primary ovarian insufficiency

Jin

Huang

2012

Sci. China Life Sci.

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Primary ovarian insufficiency (POI) occurs in about 1% of female population under the age of 40, leading to reproductive problems, an earlier encounter with menopausal symptoms, and complicated diseases. There are three presumable mechanisms involved in the development of POI, namely apoptosis acceleration, follicular maturation blocking and premature follicle activation, through the following studied causes: (i) chromosomal abnormalities or gene mutations: mostly involve X chromosome, such as FMR1 premutation; more and more potentially causal genes have been screened recently; (ii) metabolic disorders such as classic galactosaemia and 17-OH deficiency; (iii) autoimmune mediated ovarian damage: observed alone or with some certain autoimmune disorders and syndromes; but the specificity and sensitivity of antibodies towards ovary are still questionable; (iv) iatrogenic: radiotherapy or chemotherapy used in cancer treatment, as well as pelvic surgery with potential threat to ovaries' blood supply can directly damage ovarian function; (v) virus infection such as HIV and mumps; (vi) toxins and other environmental/lifestyle factors: cigarette smoking, toxins (e.g., 4-vinylcyclohexene diepoxide), and other environmental factors are associated with the development of POI. The etiology of a majority of POI cases is not identified, and is believed to be multifactorial. Strategies to POI include hormone replacement and infertility treatment. Assisted conception with donated oocytes has been proven to achieve pregnancy in POI women. Embryo cryopreservation, ovarian tissue cryopreservation and oocyte cryopreservation have been used to preserve ovarian reserve in women undergoing cancer treatments. Primary ovarian insufficiency (POI), commonly referred to as premature ovarian failure (POF), is defined as the occurrence of amenorrhea (for 4 months or more) before the age of 40 in women, accompanied with an increase of serum FSH to menopausal level (usually over 40 IU L 1 , obtained at least 1 month apart), and estradiol levels less than 50 pg mL 1 (which indicate hypoestrogenism) [1]. Primary ovarian insufficiency is first brought to light by Fuller Albright in 1942, who emphasized that the end stage of ovarian function is the primary defect rather than abnormality in gonadotropin secretion [2], and avoided the discomforting and inaccurate stressing on "failure", like death-sentence for ovarian function and conception.Menopause is a destined phase of women, which is expected to occur at around the age of (50±4) years in US women [3]. The age of 40 is two standard deviations below this average [4]. With an incidence of 1% in women under the age of 40, and 0.1% in women under the age of 30 [5], POI renders patients estrogen deficiency and anovulation, resulting in vasomotor symptoms (hot flashes and night sweats), atrophic vaginitis, dyspareunia, primary or secondary amenorrhea, and infertility. 76% of POI cases developed after normal puberty and establishment of regular menses [6]. Some of such conditions occur after stopping...

show abstract

Variation in bone morphogenetic protein 15 is not associated with spontaneous human dizygotic twinning

Cited by 31 publications

References 40 publications

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

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

Clinical characteristics and genetic analysis in women with premature ovarian insufficiency

An update on primary ovarian insufficiency

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