Y-chromosome genes associated with sertoli cell-only syndrome identified by array comparative genome hybridization
Background: The precise contribution of each chromosome gene or gene family in achieving male fertility is still the subject of debate. Most studies have examined male populations with heterogeneous causes of infertility, and have therefore reached controversial or uncertain conclusions. This study...
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Elsevier
2023-04-01
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| Series: | Biomedical Journal |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2319417022000440 |
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| author | Kuo-Chung Lan Hung-Jen Wang Tzu-Jou Wang Hsin-Jung Lin Yung-Chiao Chang Hong-Yo Kang |
| author_facet | Kuo-Chung Lan Hung-Jen Wang Tzu-Jou Wang Hsin-Jung Lin Yung-Chiao Chang Hong-Yo Kang |
| author_sort | Kuo-Chung Lan |
| collection | DOAJ |
| description | Background: The precise contribution of each chromosome gene or gene family in achieving male fertility is still the subject of debate. Most studies have examined male populations with heterogeneous causes of infertility, and have therefore reached controversial or uncertain conclusions. This study uses Y-chromosome array-based comparative genomic hybridization (aCGH) to examine a population of males with a uniform sertoli cell-only syndrome (SCOS) infertility phenotype. Methods: Initial analysis of gene copy number variations in 8 SCOS patients, with determination of the log-ratio of probe signal intensity against a DNA reference, was performed using the Y-chromosome NimbleGen aCGH. To confirm the role of candidate genes, real-time quantitative RT-PCR was used to compare 19 patients who had SCOS non-obstructive azoospermia with 15 patients who had obstructive azoospermia but normal spermatogenesis. Results: Our initial aCGH experiments identified CDY1a and CDY1b double deletions in all 8 patients who had total germ cell depletion. However, 5 patients had DAZ1/2 and DAZ3/4 deletions, 1 patient had a DAZ2 and DAZ3/4 deletion, and 2 patients had no DAZ1/2 or DAZ3/4 deletions. Examination of testicular mRNA expression in another 19 patients with SCOS indicated all patients had no detectable levels of CDY1. Conclusions: Our findings indicate that CDY1 deletion in SCOS patients, and analysis of the expression of DAZ and CDY1 genes using aCGH and quantitative RT-PCR, may be useful to predict the presence of mature spermatozoa. |
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| issn | 2319-4170 |
| language | English |
| last_indexed | 2024-03-13T05:39:36Z |
| publishDate | 2023-04-01 |
| publisher | Elsevier |
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| series | Biomedical Journal |
| spelling | doaj.art-7a37b690fcfb402f8be193bbbd1539052023-06-14T04:33:24ZengElsevierBiomedical Journal2319-41702023-04-01462100524Y-chromosome genes associated with sertoli cell-only syndrome identified by array comparative genome hybridizationKuo-Chung Lan0Hung-Jen Wang1Tzu-Jou Wang2Hsin-Jung Lin3Yung-Chiao Chang4Hong-Yo Kang5Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital at Kaohsiung, Kaohsiung, Taiwan; Center for Menopause and Reproductive Medicine Research, Chang Gung Memorial Hospital at Kaohsiung, Kaohsiung, Taiwan; Department of Obstetrics and Gynecology, Jen-Ai Hospital, Taichung, Taiwan; College of Medicine, Chang Gung University, Taoyuan, Taiwan; Corresponding author. Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital at Kaohsiung, 123 Ta-Pei Rd., Niao-Sung Dist., Kaohsiung, Taiwan.Department of Urology, Chang Gung Memorial Hospital at Kaohsiung, Kaohsiung, Taiwan; College of Medicine, Chang Gung University, Taoyuan, TaiwanDepartment of Pediatrics, Chang Gung Memorial Hospital at Kaohsiung, Kaohsiung, Taiwan; College of Medicine, Chang Gung University, Taoyuan, TaiwanCenter for Menopause and Reproductive Medicine Research, Chang Gung Memorial Hospital at Kaohsiung, Kaohsiung, Taiwan; College of Medicine, Chang Gung University, Taoyuan, TaiwanCenter for Menopause and Reproductive Medicine Research, Chang Gung Memorial Hospital at Kaohsiung, Kaohsiung, Taiwan; College of Medicine, Chang Gung University, Taoyuan, TaiwanDepartment of Obstetrics and Gynecology, Chang Gung Memorial Hospital at Kaohsiung, Kaohsiung, Taiwan; Center for Menopause and Reproductive Medicine Research, Chang Gung Memorial Hospital at Kaohsiung, Kaohsiung, Taiwan; College of Medicine, Chang Gung University, Taoyuan, TaiwanBackground: The precise contribution of each chromosome gene or gene family in achieving male fertility is still the subject of debate. Most studies have examined male populations with heterogeneous causes of infertility, and have therefore reached controversial or uncertain conclusions. This study uses Y-chromosome array-based comparative genomic hybridization (aCGH) to examine a population of males with a uniform sertoli cell-only syndrome (SCOS) infertility phenotype. Methods: Initial analysis of gene copy number variations in 8 SCOS patients, with determination of the log-ratio of probe signal intensity against a DNA reference, was performed using the Y-chromosome NimbleGen aCGH. To confirm the role of candidate genes, real-time quantitative RT-PCR was used to compare 19 patients who had SCOS non-obstructive azoospermia with 15 patients who had obstructive azoospermia but normal spermatogenesis. Results: Our initial aCGH experiments identified CDY1a and CDY1b double deletions in all 8 patients who had total germ cell depletion. However, 5 patients had DAZ1/2 and DAZ3/4 deletions, 1 patient had a DAZ2 and DAZ3/4 deletion, and 2 patients had no DAZ1/2 or DAZ3/4 deletions. Examination of testicular mRNA expression in another 19 patients with SCOS indicated all patients had no detectable levels of CDY1. Conclusions: Our findings indicate that CDY1 deletion in SCOS patients, and analysis of the expression of DAZ and CDY1 genes using aCGH and quantitative RT-PCR, may be useful to predict the presence of mature spermatozoa.http://www.sciencedirect.com/science/article/pii/S2319417022000440AzoospermiaArray comparative genomic hybridizationGenetic variationsSertoli cell-only syndromeSpermatogenesis |
| spellingShingle | Kuo-Chung Lan Hung-Jen Wang Tzu-Jou Wang Hsin-Jung Lin Yung-Chiao Chang Hong-Yo Kang Y-chromosome genes associated with sertoli cell-only syndrome identified by array comparative genome hybridization Biomedical Journal Azoospermia Array comparative genomic hybridization Genetic variations Sertoli cell-only syndrome Spermatogenesis |
| title | Y-chromosome genes associated with sertoli cell-only syndrome identified by array comparative genome hybridization |
| title_full | Y-chromosome genes associated with sertoli cell-only syndrome identified by array comparative genome hybridization |
| title_fullStr | Y-chromosome genes associated with sertoli cell-only syndrome identified by array comparative genome hybridization |
| title_full_unstemmed | Y-chromosome genes associated with sertoli cell-only syndrome identified by array comparative genome hybridization |
| title_short | Y-chromosome genes associated with sertoli cell-only syndrome identified by array comparative genome hybridization |
| title_sort | y chromosome genes associated with sertoli cell only syndrome identified by array comparative genome hybridization |
| topic | Azoospermia Array comparative genomic hybridization Genetic variations Sertoli cell-only syndrome Spermatogenesis |
| url | http://www.sciencedirect.com/science/article/pii/S2319417022000440 |
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