{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,16]],"date-time":"2026-02-16T18:10:12Z","timestamp":1771265412220,"version":"3.50.1"},"reference-count":152,"publisher":"Oxford University Press (OUP)","license":[{"start":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T00:00:00Z","timestamp":1770163200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Epigenetic modifications regulate chromatin conformation and transcription factor accessibility to regulatory regions of the genome, controlling gene expression without altering the DNA sequence itself, and being stably transmitted throughout cell divisions. One of the most well studied epigenetic marks is DNA methylation, which controls the monoallelic, parental-origin dependent expression of imprinted genes. Paternal imprinting marks are established in the male germ line, so that mature gametes\u2014the spermatozoa\u2014transmit correct imprints to the future embryo. Anomalies in the establishment and\/or maintenance of imprinting marks can interfere with embryonic and placental development and\/or result in the birth of children affected by imprinting syndromes, such as Silver-Russell and Beckwith-Wiedemann. Here, we review the literature on the observations of imprinting errors in the male gamete, in the context of disturbances in spermatogenesis resulting in male infertility, focusing on the observations described by our group and others. We provide a clinical perspective on the implementation of sperm methylation analysis as a tool to improve diagnostic and therapeutic strategies in Assisted Reproduction Technologies and highlight the importance of understanding the molecular mechanisms underlying spermatogenic defects and male infertility.<\/jats:p>","DOI":"10.1093\/biolre\/ioag027","type":"journal-article","created":{"date-parts":[[2026,2,2]],"date-time":"2026-02-02T12:24:21Z","timestamp":1770035061000},"source":"Crossref","is-referenced-by-count":0,"title":["Dissecting methylation errors at imprinted genes in human spermatozoa: from molecular observations to clinical applications"],"prefix":"10.1093","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5658-3773","authenticated-orcid":false,"given":"Cristina Joana","family":"Marques","sequence":"first","affiliation":[{"name":"Genetics Unit, Department of Pathology, Faculty of Medicine, University of Porto , 4200-319, Porto ,","place":["Portugal"]},{"name":"RISE-Health R&D Unit, Faculty of Medicine, University of Porto , 4200-319, Porto ,","place":["Portugal"]}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3009-3290","authenticated-orcid":false,"given":"M\u00e1rio","family":"Sousa","sequence":"additional","affiliation":[{"name":"Laboratory of Cell Biology, Department of Microscopy, ICBAS School of Medicine and Biomedical Sciences, Instituto de Ci\u00eancias Biom\u00e9dicas Abel Salazar, University of Porto , 4099-003, Porto ,","place":["Portugal"]},{"name":"UMIB-Unit for Multidisciplinary Research in Biomedicine\/ITR-Laboratory, Integrative and Translational Research in Population Health , 4099-003, Porto ,","place":["Portugal"]}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9546-4614","authenticated-orcid":false,"given":"Filipa","family":"Carvalho","sequence":"additional","affiliation":[{"name":"Genetics Unit, Department of Pathology, Faculty of Medicine, University of Porto , 4200-319, Porto ,","place":["Portugal"]},{"name":"RISE-Health R&D Unit, Faculty of Medicine, University of Porto , 4200-319, Porto ,","place":["Portugal"]}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8700-3698","authenticated-orcid":false,"given":"Alberto","family":"Barros","sequence":"additional","affiliation":[{"name":"Genetics Unit, Department of Pathology, Faculty of Medicine, University of Porto , 4200-319, Porto ,","place":["Portugal"]},{"name":"RISE-Health R&D Unit, Faculty of Medicine, University of Porto , 4200-319, Porto ,","place":["Portugal"]},{"name":"Centre for Reproductive Genetics Prof. Alberto Barros , 4100-009, Porto ,","place":["Portugal"]}]}],"member":"286","published-online":{"date-parts":[[2026,2,4]]},"reference":[{"key":"2026021612121001300_ref1","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1093\/humupd\/dmac035","article-title":"Temporal trends in sperm count: a systematic review and meta-regression analysis of samples collected globally in the 20th and 21st centuries","volume":"29","author":"Levine","year":"2023","journal-title":"Hum Reprod Update"},{"key":"2026021612121001300_ref2","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1038\/s41572-023-00459-w","article-title":"Male infertility","volume":"9","author":"Eisenberg","year":"2023","journal-title":"Nat Rev Dis Primers"},{"key":"2026021612121001300_ref3","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1093\/humupd\/dmab030","article-title":"A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships","volume":"28","author":"Houston","year":"2021","journal-title":"Hum Reprod Update"},{"key":"2026021612121001300_ref4","doi-asserted-by":"crossref","first-page":"1","DOI":"10.15585\/mmwr.ss7104a1","article-title":"Assisted reproductive technology surveillance\u2014United States, 2018","volume":"71","author":"Sunderam","year":"2022","journal-title":"MMWR Surveill Summ"},{"key":"2026021612121001300_ref5","doi-asserted-by":"crossref","first-page":"2832","DOI":"10.1093\/humrep\/deaa250","article-title":"20 years of the European IVF-monitoring consortium registry: what have we learned? 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