{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T20:00:38Z","timestamp":1784664038673,"version":"3.55.0"},"reference-count":21,"publisher":"Oxford University Press (OUP)","issue":"5","funder":[{"DOI":"10.13039\/501100001407","name":"Department of Biotechnology, Ministry of Science and Technology, India","doi-asserted-by":"crossref","award":["BT\/PR39794\/MED\/97\/505\/2020"],"award-info":[{"award-number":["BT\/PR39794\/MED\/97\/505\/2020"]}],"id":[{"id":"10.13039\/501100001407","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["rep.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,3,27]]},"abstract":"<jats:sec>\n                    <jats:title>In brief<\/jats:title>\n                    <jats:p>\n                      The transition from histones to protamines during spermiogenesis is critical for male genome integrity and influences fertilisation and early embryogenesis. This study reveals that specific 5\u2032 UTR single nucleotide polymorphisms (SNPs) and promoter methylation of the\n                      <jats:italic>H2BC1<\/jats:italic>\n                      gene may regulate TSH2B expression in sperm, contributing new insights into the regulatory mechanisms of testis-specific genes and their implications for male fertility.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Abstract<\/jats:title>\n                    <jats:p>\n                      The transition from histones to protamines during spermiogenesis plays a crucial role in shaping the male epigenome, and any changes in this process can impact fertilisation potential and the ability of sperm to support early embryogenesis. In our previous research, we observed reduced levels of TSH2B in the sperm of infertile men with oligozoospermia and oligoasthenozoospermia. However, the regulatory mechanisms of the\n                      <jats:italic>H2BC1<\/jats:italic>\n                      gene, which encodes TSH2B, in the testes are not yet understood. In this study, we investigated whether\n                      <jats:italic>H2BC1<\/jats:italic>\n                      expression is influenced by SNPs in the 5\u2032 untranslated region (5\u2032 UTR) and promoter methylation. Luciferase assays were performed to assess the impact of 5\u2032 UTR variants\n                      <jats:italic>in vitro<\/jats:italic>\n                      and pyrosequencing was done to evaluate promoter methylation of the\n                      <jats:italic>H2BC1<\/jats:italic>\n                      gene in the sperm of fertile and infertile men. Our findings suggest that the 5\u2032 UTR variants rs4711096 (c.-83A&gt;G) and rs4712959 (c.-80C&gt;T) positively regulate\n                      <jats:italic>H2BC1<\/jats:italic>\n                      expression. Methylation analysis indicates hypermethylation of CpG sites, particularly at CpGs 2, 3 and 9 in\n                      <jats:italic>H2BC1<\/jats:italic>\n                      , can influence\n                      <jats:italic>H2BC1<\/jats:italic>\n                      expression. This study offers new insights into the regulation of testis-specific genes.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1530\/rep-24-0382","type":"journal-article","created":{"date-parts":[[2025,3,27]],"date-time":"2025-03-27T14:55:03Z","timestamp":1743087303000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-11","source":"Crossref","is-referenced-by-count":1,"title":["Single nucleotide polymorphism at 5\u2032 UTR of H2BC1 and promoter methylation influence TSH2B expression"],"prefix":"10.1093","volume":"169","author":[{"given":"Aniket","family":"Patankar","sequence":"first","affiliation":[{"name":"Department of Gamete Immunobiology, ICMR-National Institute for Research in Reproductive and Child Health, Mumbai, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kairavi","family":"Joshi","sequence":"additional","affiliation":[{"name":"Department of Gamete Immunobiology, ICMR-National Institute for Research in Reproductive and Child Health, Mumbai, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Digumarthi V S","family":"Sudhakar","sequence":"additional","affiliation":[{"name":"Genetic Research Centre, ICMR-National Institute for Research in Reproductive and Child Health, Mumbai, Maharashtra, India"},{"name":"Faculty of Medical Research, Academy of Scientific and Innovative Research, Ghaziabad, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rahul","family":"Gajbhiye","sequence":"additional","affiliation":[{"name":"Department of Clinical Research, ICMR-National Institute for Research in Reproductive and Child Health, Mumbai, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suchitra","family":"Surve","sequence":"additional","affiliation":[{"name":"Department of Clinical Research, ICMR-National Institute for Research in Reproductive and Child Health, Mumbai, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3800-4053","authenticated-orcid":true,"given":"Priyanka","family":"Parte","sequence":"additional","affiliation":[{"name":"Department of Gamete Immunobiology, ICMR-National Institute for Research in Reproductive and Child Health, Mumbai, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","reference":[{"key":"bib1","series-title":"Proc Natl Acad Sci U S A","first-page":"2317","article-title":"Methylation patterns of testis-specific genes","volume":"88","author":"Ariel M","year":"1991","unstructured":"Ariel M\n, \nMcCarrey J\n & \nCedar H\n\n 1991 Methylation patterns of testis-specific genes. 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Geneva: World Health Organization."}],"container-title":["Reproduction"],"original-title":[],"link":[{"URL":"https:\/\/rep.bioscientifica.com\/view\/journals\/rep\/169\/5\/REP-24-0382.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/rep.bioscientifica.com\/downloadpdf\/journals\/rep\/169\/5\/REP-24-0382.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/rep.bioscientifica.com\/downloadpdf\/journals\/rep\/169\/5\/REP-24-0382.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,4]],"date-time":"2026-01-04T23:02:54Z","timestamp":1767567774000},"score":1,"resource":{"primary":{"URL":"https:\/\/rep.bioscientifica.com\/view\/journals\/rep\/169\/5\/REP-24-0382.xml"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3,27]]},"references-count":21,"journal-issue":{"issue":"5"},"URL":"https:\/\/doi.org\/10.1530\/rep-24-0382","relation":{},"ISSN":["1470-1626","1741-7899"],"issn-type":[{"value":"1470-1626","type":"print"},{"value":"1741-7899","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,3,27]]}}}