دورية أكاديمية
أعرض في EDS

Male infertility is associated with differential DNA methylation signatures of the imprinted gene GNAS and the non-imprinted gene CEP41.

التفاصيل البيبلوغرافية
العنوان: Male infertility is associated with differential DNA methylation signatures of the imprinted gene GNAS and the non-imprinted gene CEP41.
المؤلفون: Ozkocer SE; Department of Medical Biology and Genetics, Institute of Health Sciences, Gazi University, Kavaklıdere Çankaya, 06540, Ankara, Turkey.; Department of Histology and Embryology, Faculty of Medicine, Gazi University, Besevler, 06500, Ankara, Turkey., Guler I; Department of Obstetrics and Gynecology, Faculty of Medicine, Gazi University, Besevler, 06500, Ankara, Turkey., Ugras Dikmen A; Department of Public Health, Faculty of Medicine, Gazi University, Besevler, 06500, Ankara, Turkey., Bozkurt N; Department of Obstetrics and Gynecology, Faculty of Medicine, Gazi University, Besevler, 06500, Ankara, Turkey., Varol N; Department of Medical Biology, Faculty of Medicine, Gazi University, Besevler, 06500, Ankara, Turkey., Konac E; Department of Medical Biology and Genetics, Institute of Health Sciences, Gazi University, Kavaklıdere Çankaya, 06540, Ankara, Turkey. ecemercanoglu@yahoo.com.; Department of Medical Biology, Faculty of Medicine, Gazi University, Besevler, 06500, Ankara, Turkey. ecemercanoglu@yahoo.com.
المصدر: Journal of assisted reproduction and genetics [J Assist Reprod Genet] 2024 Sep; Vol. 41 (9), pp. 2289-2300. Date of Electronic Publication: 2024 Jul 17.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Springer Country of Publication: Netherlands NLM ID: 9206495 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-7330 (Electronic) Linking ISSN: 10580468 NLM ISO Abbreviation: J Assist Reprod Genet Subsets: MEDLINE
أسماء مطبوعة: Publication: <2004- >: Amsterdam : Springer
Original Publication: New York : Plenum Press, c1992-
مواضيع طبية MeSH: DNA Methylation*/genetics , GTP-Binding Protein alpha Subunits, Gs*/genetics , Chromogranins*/genetics , Infertility, Male*/genetics , Infertility, Male*/pathology , Genomic Imprinting*/genetics , Oligospermia*/genetics , Oligospermia*/pathology, Male ; Humans ; Adult ; Spermatozoa/pathology ; Spermatozoa/metabolism ; Insulin-Like Growth Factor II/genetics ; Epigenesis, Genetic/genetics ; CpG Islands/genetics ; RNA, Long Noncoding/genetics ; Sperm Count
مستخلص: Purpose: To investigate whether the DNA methylation profiles of GNAS(20q13.32), MEST(7q32.2), MESTIT1(7q32.2), IGF2(11p15.5), H19 (7q32.2), and CEP41(7q32.2) genes are related to the transcriptomic and epigenomic etiology of male infertility.
Methods: The DNA methylation levels of spermatozoa were obtained from fertile (n = 30), oligozoospermic (n = 30), and men with normal sperm count (n = 30). The methylation status of each CpG site was categorized as hypermethylated or hypomethylated. Expression levels of target gene transcripts were determined using real-time PCR.
Results: The oligozoospermia showed a higher frequency of hypermethylation at GNASAS 1st, 3rd, and 5th CpG dinucleotides (66.7%, 73.3%, 73.3%) compared to the fertile group (33.3%, 33.3%, 40%, respectively). The normal sperm count exhibited a higher frequency of hypermethylation at the 3rd CpG of CEP41 (46.7%) than the fertile group (16.7%). Normal sperm count was predicted by CEP41 hypermethylation (OR = 1.750, 95%CI 1.038-2.950) and hypermethylation of both CEP41 and GNASAS (OR = 2.389, 95%CI 1.137-5.021). Oligozoospermia was predicted solely by GNASAS hypermethylation (OR = 2.460, 95%CI 1.315-4.603). In sperms with decreased IGF2 expression in the fertile group, we observed hypomethylation in the 2nd CpG of IGF2 antisense (IFG2AS), and hypermethylation in the 1st, 2nd, and 4th CpGs of H19. No significant relationship was found between IGF2 expression and methylation status of IGF2AS and H19 in infertile groups.
Conclusion: The disappearance of the relationship between IGF2 expression and IGF2AS and H19 methylations in the infertile group provides new information regarding the disruption of epigenetic programming during spermatogenesis. A better understanding of sperm GNASAS and CEP41 hypermethylation could advance innovative diagnostic markers for male infertility.
(© 2024. The Author(s).)
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معلومات مُعتمدة: TDK-2021-7023 Gazi Üniversitesi
فهرسة مساهمة: Keywords: CEP41; GNASAS; DNA methylation; Epigenetic; Expression levels; Male infertility
المشرفين على المادة: EC 3.6.5.1 (GTP-Binding Protein alpha Subunits, Gs)
EC 3.6.1.- (GNAS protein, human)
0 (Chromogranins)
67763-97-7 (Insulin-Like Growth Factor II)
0 (IGF2 protein, human)
0 (H19 long non-coding RNA)
0 (RNA, Long Noncoding)
تواريخ الأحداث: Date Created: 20240717 Date Completed: 20240916 Latest Revision: 20240919
رمز التحديث: 20240919
مُعرف محوري في PubMed: PMC11405554
DOI: 10.1007/s10815-024-03202-w
PMID: 39017772
قاعدة البيانات: MEDLINE
الوصف
تدمد:1573-7330
DOI:10.1007/s10815-024-03202-w