Genome-wide promoter methylation profile of human testis and epididymis: identified from cell-free seminal DNA

BMC Genomics

Research Article

Xiaofang Ding¹  Chunlin Wu²  Chengliang Xiong³  Changhong Zhu³  Honggang Li³ 

[1] Centre of Reproductive Medicine, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, 430022, Wuhan, China;Family Planning Research Institute/Center of Reproductive Medicine, Tongji Medical College, Huazhong University of Science and Technology, 430030, Wuhan, China;Family Planning Research Institute/Center of Reproductive Medicine, Tongji Medical College, Huazhong University of Science and Technology, 430030, Wuhan, China;Wuhan Tongji Reproductive Medicine Hospital, 430013, Wuhan, China;

关键词: DNA methylation;    Cell-free seminal DNA;    Testis;    Epididymis;    Vasectomy;    Noninvasive diagnosis;   

DOI  :  10.1186/1471-2164-14-288

 received in 2012-09-01, accepted in 2013-04-24,  发布年份 2013

来源: Springer

【 摘 要 】

BackgroundDNA methylation analysis is useful for investigation of male fertility in mammals, whereas the reliance on tissues limits the research on human. We have previously found the presence of high concentration of cell-free seminal DNA (cfsDNA) in human semen. We proposed that some testis and epididymis-specific methylated promoters could be detected in human cfsDNA, and thus hold promise as noninvasive epigenetic biomarkers for male infertility, of which most cases are caused by defects in testicular sperm production or epididymal sperm maturation.ResultsThe ejaculate of successfully vasectomized men does not contain any secretion from testis and epididymis. Here we compared genome-wide promoter methylation profiles in cfsDNA between health donors and post-vasectomy men. Promoters of 367 testis and epididymis-specific hypomethylated genes and 134 hypermethylated genes were identified. Subsequent validation by Methyl-DNA immunoprecipitation and MethyLight analysis confirmed the result of promoter microarray. Gene Ontology analysis revealed many genes involved in male reproduction.ConclusionWe detected the testis and epididymis-specific methylated promoters in human cfsDNA, which may be used for noninvasive epigenetic biomarkers for the study and diagnosis of male infertility.

【 授权许可】

Unknown   
© Wu et al.; licensee BioMed Central Ltd. 2013. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.