ICEECE2012 Oral Communications Male Reproduction (6 abstracts)
X chromosome-linked copy number variations in male infertility
C. Krausz 1 , C. Giachini 1 , D. Lo Giacco 2, , F. Daguin 1 , E. Ars 3 , E. Ruiz-Castane 2 , G. Forti 1, & E. Rossi 4
1University of Florence, Florence, Italy; 2Fundació Puigvert, Barcelona, Spain; 3Fundació Puigvert, Universitat Autònoma de Barcelona, Barcelona, Spain; 4University of Pavia, Pavia, Italy.
The role of CNVs in male infertility is poorly defined, and only those linked to the Y chromosome have been the object of extensive research. Although it has been predicted that the X chromosome is also enriched in spermatogenesis genes, no clinically relevant gene mutations have been identified so far. In order to advance our understanding of the role of X-linked genetic factors in male infertility, we applied high resolution X chromosome specific array-CGH in 199 men with different sperm count followed by the analysis of selected, patient-specific CNVs in large groups of cases and controls. We identified 73 CNVs, among which 48 are novel, providing the largest collection of X-linked CNVs in relation to spermatogenesis. We found 21 patient-specific CNVs with potential clinical implication. Cancer Testis Antigen gene family members were the most frequently affected genes, and represent new genetic targets in relationship with altered spermatogenesis. The most relevant finding of our study is the significantly higher global burden of CNVs in patients than controls due to an excessive rate of deletions/person and to a higher mean sequence loss/person. Our observation adds ‘CNV burden’ to the list of those genetic anomalies which may link spermatogenic failure with genomic instability. The implications of this finding may not be restricted to infertility and should be taken into consideration in the era of assisted reproductive techniques, which allow infertile men to conceive their own biological children.
Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.
Funding: This work was supported, however funding details are unavailable.
Volume 29
Article tools
My recent searches
My recently viewed abstracts
Authors
Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more