دورية أكاديمية
Human-specific epigenomic states in spermatogenesis.
العنوان: | Human-specific epigenomic states in spermatogenesis. |
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المؤلفون: | Liao C; Department of Obstetrics, Gynecology & Reproductive Sciences, Yale School of Medicine, 333 Cedar St., New Haven, CT 06510, USA., Walters BW; Department of Genetics, Yale School of Medicine, 333 Cedar St., New Haven, CT 06510, USA., DiStasio M; Department of Pathology, Yale School of Medicine, 333 Cedar St., New Haven, CT 06510, USA.; Department of Opthamology & Visual Sciences, Yale School of Medicine, 333 Cedar St., New Haven, CT 06510, USA., Lesch BJ; Department of Obstetrics, Gynecology & Reproductive Sciences, Yale School of Medicine, 333 Cedar St., New Haven, CT 06510, USA.; Department of Genetics, Yale School of Medicine, 333 Cedar St., New Haven, CT 06510, USA.; Yale Cancer Center, Yale School of Medicine, 333 Cedar St., New Haven, CT 06510, USA. |
المصدر: | Computational and structural biotechnology journal [Comput Struct Biotechnol J] 2023 Dec 27; Vol. 23, pp. 577-588. Date of Electronic Publication: 2023 Dec 27 (Print Publication: 2024). |
نوع المنشور: | Journal Article |
اللغة: | English |
بيانات الدورية: | Publisher: Elsevier B.V. on behalf of Research Network of Computational and Structural Biotechnology Country of Publication: Netherlands NLM ID: 101585369 Publication Model: eCollection Cited Medium: Print ISSN: 2001-0370 (Print) Linking ISSN: 20010370 NLM ISO Abbreviation: Comput Struct Biotechnol J Subsets: PubMed not MEDLINE |
أسماء مطبوعة: | Publication: Amsterdam : Elsevier B.V. on behalf of Research Network of Computational and Structural Biotechnology Original Publication: Gothenburg, Sweden : Research Network of Computational and Structural Biotechnology |
مستخلص: | Infertility is becoming increasingly common, affecting one in six people globally. Half of these cases can be attributed to male factors, many driven by abnormalities in the process of sperm development. Emerging evidence from genome-wide association studies, genetic screening of patient cohorts, and animal models highlights an important genetic contribution to spermatogenic defects, but comprehensive identification and characterization of the genes critical for male fertility remain lacking. High divergence of gene regulation in spermatogenic cells across species poses challenges for delineating the genetic pathways required for human spermatogenesis using common model organisms. In this study, we leveraged post-translational histone modification and gene transcription data for 15,491 genes in four mammalian species (human, rhesus macaque, mouse, and opossum), to identify human-specific patterns of gene regulation during spermatogenesis. We combined H3K27me3 ChIP-seq, H3K4me3 ChIP-seq, and RNA-seq data to define epigenetic states for each gene at two stages of spermatogenesis, pachytene spermatocytes and round spermatids, in each species. We identified 239 genes that are uniquely active, poised, or dynamically regulated in human spermatogenic cells distinct from the other three species. While some of these genes have been implicated in reproductive functions, many more have not yet been associated with human infertility and may be candidates for further molecular and epidemiologic studies. Our analysis offers an example of the opportunities provided by evolutionary and epigenomic data for broadly screening candidate genes implicated in reproduction, which might lead to discoveries of novel genetic targets for diagnosis and management of male infertility and male contraception. Competing Interests: The authors declare no conflict of interest. (© 2024 The Authors.) |
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معلومات مُعتمدة: | R01 HD098128 United States HD NICHD NIH HHS; R21 HD110843 United States HD NICHD NIH HHS; S10 OD030363 United States OD NIH HHS; UL1 TR001863 United States TR NCATS NIH HHS |
فهرسة مساهمة: | Keywords: Evolution; Expression; Fertility; Genomics; Histone modification; Spermatogenesis |
تواريخ الأحداث: | Date Created: 20240126 Latest Revision: 20240714 |
رمز التحديث: | 20240714 |
مُعرف محوري في PubMed: | PMC10809009 |
DOI: | 10.1016/j.csbj.2023.12.037 |
PMID: | 38274996 |
قاعدة البيانات: | MEDLINE |
تدمد: | 2001-0370 |
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DOI: | 10.1016/j.csbj.2023.12.037 |