Defining new genetic etiologies of male infertility: progress and future prospects
Autor: | Kenneth I. Aston, Albert Salas-Huetos |
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Jazyk: | angličtina |
Rok vydání: | 2021 |
Předmět: |
0301 basic medicine
030219 obstetrics & reproductive medicine Urology Complex disease Computational biology Biology Review Article on Genetic Causes and Management of Male Infertility medicine.disease Genetic architecture Male infertility 03 medical and health sciences Human health 030104 developmental biology 0302 clinical medicine Reproductive Medicine Etiology medicine Identification (biology) |
Zdroj: | Transl Androl Urol |
Popis: | Male infertility is a common and complex disease, manifesting as a wide range of phenotypes, ranging from apparently normal semen parameters with an inexplicable inability to conceive, to the complete absence of sperm production. The diversity of male infertility phenotypes, coupled with the extreme complexity of spermatogenesis has significantly confounded the identification of the underlying genetic causes for these conditions, though incremental progress has been made, particularly in the past decade. In this review, we discuss the progress that has been made to date, tools and resources that have proven effective in accelerating discovery of novel genetic markers for male infertility, and areas in which we see the greatest potential for advancing the field in the coming years. These include the development and use of robust phenotyping tools, the continued development of in vitro and animal models for variant validation, increased utilization and refinement of whole genome approaches for discovery, and further expansion of consortia that assemble groups of clinicians and basic researchers with the unified goal of disentangling the complex genetic architecture of male infertility. As these resources mature, and funding agencies increasingly recognize the importance of these efforts for improving human health, the discovery of novel genetic markers for male infertility will certainly continue to accelerate. |
Databáze: | OpenAIRE |
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