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PMID 24935076
Gene Name DAZ1
Condition Azoospermia, spermatogenic impairment
Association In the subjects without partial AZFc deletions, a notable finding was that the frequency of DAZ and/or BPY2 copy number alterations in the infertile group was significantly higher than in the controls.
Mutation b2/b3 partial deletion (including both deletion-only and deletion-duplication), AZFc deletions
Population size 1435
Population details 1435 (654 idiopathic infertile men, 781 healthy controls)
Sex Male
Infertility type Male infertility
Associated genes DAZ, BPY2
Other associated phenotypes Azoospermia, spermatogenic impairment


Gene copy number alterations in the azoospermia-associated AZFc region and their effect on spermatogenic impairment

Lu C, Jiang J, Zhang R, Wang Y, Xu M, Qin Y, Lin Y, Guo X, Ni B, Zhao Y, Diao N, Chen F, Shen H, Sha J, Xia Y, Hu Z, Wang X.

The azoospermia factor c (AZFc) region in the long arm of human Y chromosome is characterized by massive palindromes. It harbors eight multi-copy gene families that are expressed exclusively or predominantly in testis. To assess systematically the role of the AZFc region and these eight gene families in spermatogenesis, we conducted a comprehensive molecular analysis (including Y chromosome haplogrouping, AZFc deletion typing and gene copy quantification) in 654 idiopathic infertile men and 781 healthy controls in a Han Chinese population. The b2/b3 partial deletion (including both deletion-only and deletion-duplication) was consistently associated with spermatogenic impairment. In the subjects without partial AZFc deletions, a notable finding was that the frequency of DAZ and/or BPY2 copy number alterations in the infertile group was significantly higher than in the controls. Combined patterns of DAZ and/or BPY2 copy number abnormality were associated with spermatogenic impairment when compared with the pattern of all AZFc genes with common level copies. In addition, in Y chromosome haplogroup O1 (Y-hg O1), the frequency of copy number alterations of all eight gene families was significantly higher in the case group than that in the control group. Our findings indicate that the DAZ, BPY2 genes may be prominent players in spermatogenesis, and genomic rearrangements may be enriched in individuals belonging to Y-hg O1. Our findings emphasize the necessity of routine molecular analysis of AZFc structural variation during the workup of azoospermia and/or oligozoospermia, which may diminish the genetic risk of assisted reproduction. CI - © The Author 2014. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oup.com. FAU - Lu, Chuncheng AU - Lu C AD - State Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing 210029, China Key Laboratory of Modern Toxicology of Ministry of Education, School of Public Health, Nanjing Medical University, Nanjing 210029, China. FAU - Jiang, Jie AU - Jiang J AD - State Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing 210029, China Key Laboratory of Modern Toxicology of Ministry of Education, School of Public Health, Nanjing Medical University, Nanjing 210029, China Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing, China. FAU - Zhang, Ruyang AU - Zhang R AD - Key Laboratory of Modern Toxicology of Ministry of Education, School of Public Health, Nanjing Medical University, Nanjing 210029, China Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing, China. FAU - Wang, Ying AU - Wang Y AD - State Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing 210029, China Key Laboratory of Modern Toxicology of Ministry of Education, School of Public Health, Nanjing Medical University, Nanjing 210029, China. FAU - Xu, Miaofei AU - Xu M AD - State Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing 210029, China Key Laboratory of Modern Toxicology of Ministry of Education, School of Public Health, Nanjing Medical University, Nanjing 210029, China. FAU - Qin, Yufeng AU - Qin Y AD - State Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing 210029, China Key Laboratory of Modern Toxicology of Ministry of Education, School of Public Health, Nanjing Medical University, Nanjing 210029, China. FAU - Lin, Yuan AU - Lin Y AD - State Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing 210029, China Key Laboratory of Modern Toxicology of Ministry of Education, School of Public Health, Nanjing Medical University, Nanjing 210029, China Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing, China. FAU - Guo, Xuejiang AU - Guo X AD - State Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing 210029, China. FAU - Ni, Bixian AU - Ni B AD - State Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing 210029, China Key Laboratory of Modern Toxicology of Ministry of Education, School of Public Health, Nanjing Medical University, Nanjing 210029, China Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing, China. FAU - Zhao, Yang AU - Zhao Y AD - Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing, China. FAU - Diao, Nancy AU - Diao N AD - Department of Environmental Health, Harvard School of Public Health, Harvard University, Boston, MA, USA. FAU - Chen, Feng AU - Chen F AD - Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing, China. FAU - Shen, Hongbing AU - Shen H AD - State Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing 210029, China Key Laboratory of Modern Toxicology of Ministry of Education, School of Public Health, Nanjing Medical University, Nanjing 210029, China Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing, China. FAU - Sha, Jiahao AU - Sha J AD - State Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing 210029, China. FAU - Xia, Yankai AU - Xia Y AD - State Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing 210029, China Key Laboratory of Modern Toxicology of Ministry of Education, School of Public Health, Nanjing Medical University, Nanjing 210029, China yankaixia@njmu.edu.cn. FAU - Hu, Zhibin AU - Hu Z AD - State Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing 210029, China Key Laboratory of Modern Toxicology of Ministry of Education, School of Public Health, Nanjing Medical University, Nanjing 210029, China Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing, China.