Genome-wide 5-hydroxymethylcytosine modification pattern is a novel epigenetic feature of globozoospermia.
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.
['Wang|Xiu-Xia|XX|', 'Sun|Bao-Fa|BF|', 'Jiao|Jiao|J|', 'Chong|Ze-Chen|ZC|', 'Chen|Yu-Shen|YS|', 'Wang|Xiao-Li|XL|', 'Zhao|Yue|Y|', 'Zhou|Yi-Ming|YM|', 'Li|Da|D|']
D044503:5-Methylcytosine D016022:Case-Control Studies D048430:Cell Shape D003596:Cytosine D004247:DNA D044127:Epigenesis, Genetic D020869:Gene Expression Profiling D018507:Gene Expression Regulation, Developmental D020022:Genetic Predisposition to Disease D055106:Genome-Wide Association Study D018392:Genomic Imprinting D006801:Humans D007248:Infertility, Male D008297:Male D010641:Phenotype D013081:Sperm Motility D013091:Spermatogenesis D013094:Spermatozoa
5-hydroxymethylcytosine epigenetic globozoospermia genomic imprinting