• PMID: 25762640
• Gene Name: RTL1
• Condition: Azoospermia, Globozoospermia
• Association: Here, utilizing the chemical labeling and biotin-enrichment approach followed by Illumina HiSeq sequencing, the study showed that (i) 6664, 9029 and 6318 genes contain 5hmC in normal, abnormal, and globozoospermia sperm, respectively; (ii) some 5hmC-conta
• Sex: Male
• Infertility type: Male infertility
• Associated genes: GDAP1L1, GNAS, KCNK9, LIN28B, RB1, RTL1, SLC22A18, ZDBF2
• Other associated phenotypes: Azoospermia, Globozoospermia

Genome-wide 5-hydroxymethylcytosine modification pattern is a novel epigenetic feature of globozoospermia

Wang XX, Sun BF, Jiao J, Chong ZC, Chen YS, Wang XL, Zhao Y, Zhou YM, Li D.

Discovery of 5-hydroxymethylcytosine (5hmC) in mammalian genomes has excited the field of epigenetics, but information on the genome-wide distribution of 5hmC is limited. Globozoospermia is a rare but severe cause of male infertility. To date, the epigenetic mechanism, especially 5hmC profiles involved in globozoospermia progression, remains largely unknown. Here, utilizing the chemical labeling and biotin-enrichment approach followed by Illumina HiSeq sequencing, we showed that (i) 6664, 9029 and 6318 genes contain 5hmC in normal, abnormal, and globozoospermia sperm, respectively; (ii) some 5hmC-containing genes significantly involves in spermatogenesis, sperm motility and morphology, and gamete generation; (iii) 5hmC is exclusively localized in sperm intron; (iv) approximately 40% imprinted genes have 5hmC modification in sperm genomes, but globozoospermia sperm exhibiting a large portion of imprinted genes lose the 5hmC modification; (v) six imprinted genes showed different 5hmC patterns in abnormal sperm (GDAP1L1, GNAS, KCNK9, LIN28B, RB1, RTL1), and five imprinted genes showed different 5hmC patterns in globozoospermia sperm (KCNK9, LIN28B, RB1, SLC22A18, ZDBF2). These results suggested that differences in genome-wide 5hmC patterns may in part be responsible for the sperm phenotype. All of this may improve our understanding of the basic molecular mechanism underlying sperm biology and the etiology of male infertility. FAU - Wang, Xiu-Xia AU - Wang XX AD - Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, Shenyang 110004, China. FAU - Sun, Bao-Fa AU - Sun BF AD - Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 101300, China. FAU - Jiao, Jiao AU - Jiao J AD - Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, Shenyang 110004, China. FAU - Chong, Ze-Chen AU - Chong ZC AD - Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 101300, China. FAU - Chen, Yu-Shen AU - Chen YS AD - Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 101300, China. FAU - Wang, Xiao-Li AU - Wang XL AD - Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 101300, China. FAU - Zhao, Yue AU - Zhao Y AD - Department of Cell Biology, Key Laboratory of Cell Biology, Ministry of Public Health, and Key Laboratory of Medical Cell Biology, Ministry of Education, China Medical University, Shenyang 110001, China. FAU - Zhou, Yi-Ming AU - Zhou YM AD - Department of Medicine, Brigham and Women's Hospital, Harvard Institutes of Medicine, Harvard Medical School, Boston, MA 02115, USA.