Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2011 Nov-Dec;17(6):829-47.
doi: 10.1093/humupd/dmr033. Epub 2011 Sep 6.

Contemporary genetic technologies and female reproduction

Evian Annual Reproduction (EVAR) Workshop Group 2010; B C J M Fauser, K Diedrich, P Bouchard, F Domínguez, M Matzuk, S Franks, S Hamamah, C Simón, P Devroey, D Ezcurra, C M Howles
Collaborators

Contemporary genetic technologies and female reproduction

Evian Annual Reproduction (EVAR) Workshop Group 2010 et al. Hum Reprod Update. 2011 Nov-Dec.

Erratum in

  • Hum Reprod Update. 2012 Mar-Apr;18(2):231

Abstract

Background: The Fifth Evian Annual Reproduction (EVAR) Workshop Meeting discussed knowledge regarding contemporary genetics in female reproduction.

Methods: Specialist reproductive medicine clinicians and geneticists delivered presentations based on published literature and current research. The content of this report is based on the expert presentations and subsequent group discussions that took place during this Workshop.

Results: Numerous ovarian genes with a role in infertility have been identified. Future challenges for genetic screening of patients, such as those with polycystic ovary syndrome, primary ovarian insufficiency or endometriosis, include the identification of high-throughput strategies and how to apply these findings to infertile patients. The identification of high-quality embryos in IVF using objective technologies remains a high priority in order to facilitate single-embryo transfer. Gene expression profiling of cumulus cells surrounding the oocyte, and proteomic and metabolomic approaches in embryo culture media may significantly improve non-invasive embryo quality assessment.

Conclusions: The way forward in advancing the knowledge of genes involved in reproduction was considered to be through genome-wide association studies involving large numbers of patients. Establishing international collaboration is required to enable the application of such technologies in sufficient numbers of patients.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Model of ovarian genes recognized in 2008. Reproduced with permission from Macmillan Publishers Ltd (Matzuk and Lamb, 2008).
Figure 2
Figure 2
Working model of the regulation of oocyte gene expression. As described in the text, a complex of SOHLH1/2 is believed to be a master–master regulator of other master transcription factors (boxed or circled). Key downstream transcriptional targets (GDF9, OCT4 and ZP1–3) are also shown.
Figure 3
Figure 3
A theoretical model of the development of endometriosis.
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Abbott DH, Dumesic DA, Franks S. Developmental origin of polycystic ovary syndrome—a hypothesis. J Endocrinol. 2002;174:1–5. - PubMed
    1. Aboura A, Dupas C, Tachdjian G, Portnoi MF, Bourcigaux N, Dewailly D, Frydman R, Fauser B, Ronci-Chaix N, Donadille B, et al. Array comparative genomic hybridization profiling analysis reveals deoxyribonucleic acid copy number variations associated with premature ovarian failure. J Clin Endocrinol Metab. 2009;94:4540–4546. - PubMed
    1. Ahonen P, Myllarniemi S, Sipila I, Perheentupa J. Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. N Engl J Med. 1990;322:1829–1836. - PubMed
    1. Aittomaki K, Lucena JL, Pakarinen P, Sistonen P, Tapanainen J, Gromoll J, Kaskikari R, Sankila EM, Lehvaslaiho H, Engel AR, et al. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell. 1995;82:959–968. - PubMed
    1. Aki T, Funakoshi T, Nishida-Kitayama J, Mizukami Y. TPRA40/GPR175 regulates early mouse embryogenesis through functional membrane transport by Sjogren's syndrome-associated protein NA14. J Cell Physiol. 2008;217:194–206. - PubMed

Publication types