Array Comparative Genomic Hybridization Profiling Analysis Reveals Deoxyribonucleic Acid Copy Number Variations Associated with Premature Ovarian Failure

Aboura, Azzedine; Dupas, C.; Tachdjian, Gérard; Portnoı̈, Marie-France; Bourcigaux, Nathalie; Dewailly, Didier; Frydman, René; Fauser, Bart C.J.M.; Ronci-Chaix, N.; Donadille, Bruno; Bouchard, Philippe; Christin-Maître, Sophie

doi:10.1210/jc.2009-0186

Cited by 90 publications

(62 citation statements)

References 41 publications

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“…S7, boxed). Genome-wide association studies also implicated YAP as a susceptibility gene for PCOS (26), whereas deletion of CCN2/CTGF in ovarian granulosa cells in mice led to subfertility and aberrant follicle development (27) Also, genome-wide analyses identified changes in gene copy numbers for BIRC1 in POI patients (28). F-actin formation in the stress fiber is required for the disruption of Hippo signaling and nuclear YAP accumulation (29).…”

Section: Discussionmentioning

confidence: 99%

Hippo signaling disruption and Akt stimulation of ovarian follicles for infertility treatment

Kawamura

Cheng

Suzuki³

et al. 2013

Proc. Natl. Acad. Sci. U.S.A.

705

685

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Primary ovarian insufficiency (POI) and polycystic ovarian syndrome are ovarian diseases causing infertility. Although there is no effective treatment for POI, therapies for polycystic ovarian syndrome include ovarian wedge resection or laser drilling to induce follicle growth. Underlying mechanisms for these disruptive procedures are unclear. Here, we explored the role of the conserved Hippo signaling pathway that serves to maintain optimal size across organs and species. We found that fragmentation of murine ovaries promoted actin polymerization and disrupted ovarian Hippo signaling, leading to increased expression of downstream growth factors, promotion of follicle growth, and the generation of mature oocytes. In addition to elucidating mechanisms underlying follicle growth elicited by ovarian damage, we further demonstrated additive follicle growth when ovarian fragmentation was combined with Akt stimulator treatments. We then extended results to treatment of infertility in POI patients via disruption of Hippo signaling by fragmenting ovaries followed by Akt stimulator treatment and autografting. We successfully promoted follicle growth, retrieved mature oocytes, and performed in vitro fertilization. Following embryo transfer, a healthy baby was delivered. The ovarian fragmentation-in vitro activation approach is not only valuable for treating infertility of POI patients but could also be useful for middle-aged infertile women, cancer patients undergoing sterilizing treatments, and other conditions of diminished ovarian reserve.

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Section: Discussionmentioning

confidence: 99%

Hippo signaling disruption and Akt stimulation of ovarian follicles for infertility treatment

Kawamura

Cheng

Suzuki³

et al. 2013

Proc. Natl. Acad. Sci. U.S.A.

705

685

View full text Add to dashboard Cite

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“…Nevertheless, a large number of genes or genomic loci, affected by common CNVs or single nucleotide polymorphisms (SNPs) and identified by genome-wide association studied (GWA), may have a role in the disease susceptibility but can explain only a small proportion of the total heritability of POI (23). The analysis of a few cohorts of 46,XX POI patients by means of high throughput techniques, such as comparative genomic hybridization array (array-CGH) and SNP array, has led to the identification of CNVs affecting several X-linked and autosomal loci with a possible role in female fertility (24)(25)(26)(27)(28)(29)(30)(31)(32)(33)(34). Similarly, the recent application of whole-exome sequencing (WES) to a few POI multigenerational familial cases has succeeded in revealing rare single nucleotide variants affecting genes implicated in ovarian function (35)(36)(37)(38)(39)(40)(41)(42)(43)(44)(45)(46)(47)(48).…”

Section: The Heterogeneous Manifestations and Multifactorial Origin Omentioning

confidence: 99%

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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“…De estas, cinco genes están involucrados en la reproducción y son genes candidatos potenciales para la falla ovárica prematura. 5 Las mujeres con duplicación del brazo corto y deleción del brazo largo del cromosoma X se relacionan con falla ovárica, y talla normal o alta. En el caso de las mujeres con falla ovárica prematura es posible la inducción de la ovulación.…”

Section: Discussionunclassified

Síndrome de Turner con mosaicismo 45,X/46Xdel(X)(q21). Comunicación de un caso

2013

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RESUMENEl síndrome de Turner fue descrito por Otto Ullrich en 1930 y por Henry Turner en 1938. Se estima que 1 de 2000 a 3000 niñas recién nacidas, y 1% de las concepciones de embriones y fetos femeninos portan esta patología, llegándose a abortar espontáneamente, en el primer trimestre, entre el 95% y el 99% de los fetos afectados. El caso que se presenta corresponde a una adolescente, nacida en 1995, que consultó por amenorrea primaria, con cariotipo 45,X[6]/46Xdel(X)(q21) [14]. Dado el resultado observado, se estudió a la madre, quien había experimentado una insuficiencia ovárica prematura y cuyo cariotipo era 46Xdel(X)(q21) SUMMARYTurner's syndrome was described by Otto Ullrich (1930) and Henry Turner (1938). An estimated 1 from 2,000 to 3,000 female babies and 1% of the conceptions of female embryos and fetuses have this condition, and 95 to 99% of them result in miscarriage during the first trimester. The case presented concerns a 15 y/o girl who consulted due to primary amenorrhea. The karyotype was 45,X[6]/46Xdel(X)(q21) [14]. Her mother had experienced premature ovarian failure and her karyotype was: 46Xdel(X)(q21)[3]/46,XX [35].

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Array Comparative Genomic Hybridization Profiling Analysis Reveals Deoxyribonucleic Acid Copy Number Variations Associated with Premature Ovarian Failure

Cited by 90 publications

References 41 publications

Hippo signaling disruption and Akt stimulation of ovarian follicles for infertility treatment

Hippo signaling disruption and Akt stimulation of ovarian follicles for infertility treatment

Genetics of primary ovarian insufficiency

Síndrome de Turner con mosaicismo 45,X/46Xdel(X)(q21). Comunicación de un caso

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