Disease gene discovery in male infertility: past, present and future

Identifying the genes causing male infertility is important to increase our biological understanding as well as the diagnostic yield and clinical relevance of genetic testing in this disorder. While significant progress has been made in some areas, mainly in our knowledge of the genes underlying rar...

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Bibliographic Details
Published in:Human genetics 2021-01, Vol.140 (1), p.7-19
Main Authors: Xavier, M. J., Salas-Huetos, A., Oud, M. S., Aston, K. I., Veltman, J. A.
Format: Article
Language:English
Subjects:
Animals
Biomedical and Life Sciences
Biomedicine
Gene Function
Genes
Genetic Association Studies - methods
Genetic research
Genetic screening
Genetic Testing - methods
Genomics
Genomics - methods
Human Genetics
Humans
Infertility
Infertility, Male
Infertility, Male - genetics
Male
Metabolic Diseases
Molecular genetics of male infertility
Molecular Medicine
Review
Sperm
Spermatozoa - abnormalities
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Summary:Identifying the genes causing male infertility is important to increase our biological understanding as well as the diagnostic yield and clinical relevance of genetic testing in this disorder. While significant progress has been made in some areas, mainly in our knowledge of the genes underlying rare qualitative sperm defects, the same cannot be said for the genetics of quantitative sperm defects. Technological advances and approaches in genomics are critical for the process of disease gene identification. In this review we highlight the impact of various technological developments on male infertility gene discovery as well as functional validation, going from the past to the present and the future. In particular, we draw attention to the use of unbiased genomics approaches, the development of increasingly relevant functional assays and the importance of large-scale international collaboration to advance disease gene identification in male infertility.
ISSN:0340-6717
1432-1203
DOI:10.1007/s00439-020-02202-x