High resolution X chromosome-specific array-CGH detects new CNVs in infertile males.
<h4>Context</h4>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 mutati...
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2012-01-01
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| Series: | PLoS ONE |
| Online Access: | https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0044887&type=printable |
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| author | Csilla Krausz Claudia Giachini Deborah Lo Giacco Fabrice Daguin Chiara Chianese Elisabet Ars Eduard Ruiz-Castane Gianni Forti Elena Rossi |
| author_facet | Csilla Krausz Claudia Giachini Deborah Lo Giacco Fabrice Daguin Chiara Chianese Elisabet Ars Eduard Ruiz-Castane Gianni Forti Elena Rossi |
| author_sort | Csilla Krausz |
| collection | DOAJ |
| description | <h4>Context</h4>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.<h4>Objectives</h4>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 deletions in large groups of cases and normozoospermic controls.<h4>Results</h4>We identified 73 CNVs, among which 55 are novel, providing the largest collection of X-linked CNVs in relation to spermatogenesis. We found 12 patient-specific deletions 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. One of the most relevant findings of our study is the significantly higher global burden of deletions in patients compared to controls due to an excessive rate of deletions/person (0.57 versus 0.21, respectively; p = 8.785×10(-6)) and to a higher mean sequence loss/person (11.79 Kb and 8.13 Kb, respectively; p = 3.435×10(-4)).<h4>Conclusions</h4>By the analysis of the X chromosome at the highest resolution available to date, in a large group of subjects with known sperm count we observed a deletion burden in relation to spermatogenic impairment and the lack of highly recurrent deletions on the X chromosome. We identified a number of potentially important patient-specific CNVs and candidate spermatogenesis genes, which represent novel targets for future investigations. |
| format | Article |
| id | doaj-art-d7705a593414440b9d306e9bbe9dbbcb |
| institution | Kabale University |
| issn | 1932-6203 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj-art-d7705a593414440b9d306e9bbe9dbbcb2025-08-20T03:25:07ZengPublic Library of Science (PLoS)PLoS ONE1932-62032012-01-01710e4488710.1371/journal.pone.0044887High resolution X chromosome-specific array-CGH detects new CNVs in infertile males.Csilla KrauszClaudia GiachiniDeborah Lo GiaccoFabrice DaguinChiara ChianeseElisabet ArsEduard Ruiz-CastaneGianni FortiElena Rossi<h4>Context</h4>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.<h4>Objectives</h4>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 deletions in large groups of cases and normozoospermic controls.<h4>Results</h4>We identified 73 CNVs, among which 55 are novel, providing the largest collection of X-linked CNVs in relation to spermatogenesis. We found 12 patient-specific deletions 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. One of the most relevant findings of our study is the significantly higher global burden of deletions in patients compared to controls due to an excessive rate of deletions/person (0.57 versus 0.21, respectively; p = 8.785×10(-6)) and to a higher mean sequence loss/person (11.79 Kb and 8.13 Kb, respectively; p = 3.435×10(-4)).<h4>Conclusions</h4>By the analysis of the X chromosome at the highest resolution available to date, in a large group of subjects with known sperm count we observed a deletion burden in relation to spermatogenic impairment and the lack of highly recurrent deletions on the X chromosome. We identified a number of potentially important patient-specific CNVs and candidate spermatogenesis genes, which represent novel targets for future investigations.https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0044887&type=printable |
| spellingShingle | Csilla Krausz Claudia Giachini Deborah Lo Giacco Fabrice Daguin Chiara Chianese Elisabet Ars Eduard Ruiz-Castane Gianni Forti Elena Rossi High resolution X chromosome-specific array-CGH detects new CNVs in infertile males. PLoS ONE |
| title | High resolution X chromosome-specific array-CGH detects new CNVs in infertile males. |
| title_full | High resolution X chromosome-specific array-CGH detects new CNVs in infertile males. |
| title_fullStr | High resolution X chromosome-specific array-CGH detects new CNVs in infertile males. |
| title_full_unstemmed | High resolution X chromosome-specific array-CGH detects new CNVs in infertile males. |
| title_short | High resolution X chromosome-specific array-CGH detects new CNVs in infertile males. |
| title_sort | high resolution x chromosome specific array cgh detects new cnvs in infertile males |
| url | https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0044887&type=printable |
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