{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,17]],"date-time":"2026-05-17T02:52:29Z","timestamp":1778986349726,"version":"3.51.4"},"reference-count":33,"publisher":"Portland Press Ltd.","issue":"12","license":[{"start":{"date-parts":[[2022,11,17]],"date-time":"2022-11-17T00:00:00Z","timestamp":1668643200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["portlandpress.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,12,22]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Neural tube defects (NTDs) are significant congenital deformities of the central nervous system among which spina bifida is the most common form that occurs due to defect in the neurulation process of embryogenesis. NTDs are among the most common type of birth defects occurring at a range of 0.5\u201310 in every 1000 live births worldwide and are thought to have multifactorial etiology, including multigenetic and epigenetic notions. Epigenetic regulations control differential gene expression in normal and disease phenotypes. DNA methylation is a significant epigenetic process, guided by DNMT1, one of the most important maintenance methylating agents. However, the relationship between DNMT1 and NTDs had always been inconclusive and poorly understood. In the present study, by utilizing in silico methodologies we tried to figure out potent single nucleotide variants (SNVs) that could play roles in generating functional differences in DNMT1 expression and we also tried to check (by in vitro method) if there is any connection between DNMT1 expression and spina bifida condition. A number of coding and non-coding (both intragenic and intergenic) SNVs of DNMT1 were found (using the in silico methods) that have potentials to alter its expression. From the in vitro experimentations, differential DNMT1 RNA expressions were found between spina bifida affected newborns and their respective mothers when compared with controls. It is the first report of NTD from Eastern India precisely showing inverse correlation between DNMT1 expression and occurrence of NTD. The findings of the present study could be further considered for early prognosis and future experimental designs.<\/jats:p>","DOI":"10.1042\/bsr20220998","type":"journal-article","created":{"date-parts":[[2022,11,17]],"date-time":"2022-11-17T13:05:54Z","timestamp":1668690354000},"update-policy":"https:\/\/doi.org\/10.1042\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Analysis of DNMT1 gene variants in progression of neural tube defects\u2014an <i>in silico<\/i> to <i>in vitro<\/i> approach"],"prefix":"10.1042","volume":"42","author":[{"given":"Susanta","family":"Sadhukhan","sequence":"first","affiliation":[{"name":"1Department of Zoology, University of Calcutta, 35 Ballygunge Circular Road, Kolkata 700019, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nirvika","family":"Paul","sequence":"additional","affiliation":[{"name":"1Department of Zoology, University of Calcutta, 35 Ballygunge Circular Road, Kolkata 700019, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sudakshina","family":"Ghosh","sequence":"additional","affiliation":[{"name":"2Department of Zoology, Vidyasagar College for Women, 39 Sankar Ghosh Lane, Kolkata 700006, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dinesh","family":"Munian","sequence":"additional","affiliation":[{"name":"3Department of Neonatology, Institute of Postgraduate Medical Education and Research, 244 Acharya Jagadish Chandra Bose Road, Kolkata 700020, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kausik","family":"Ganguly","sequence":"additional","affiliation":[{"name":"4Department of Genetics, University of Calcutta, 35 Ballygunge Circular Road, Kolkata 700019, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Krishnendu","family":"Ghosh","sequence":"additional","affiliation":[{"name":"1Department of Zoology, University of Calcutta, 35 Ballygunge Circular Road, Kolkata 700019, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mainak","family":"Sengupta","sequence":"additional","affiliation":[{"name":"4Department of Genetics, University of Calcutta, 35 Ballygunge Circular Road, Kolkata 700019, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0269-6035","authenticated-orcid":false,"given":"Madhusudan","family":"Das","sequence":"additional","affiliation":[{"name":"1Department of Zoology, University of Calcutta, 35 Ballygunge Circular Road, Kolkata 700019, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"288","published-online":{"date-parts":[[2022,12,6]]},"reference":[{"key":"2022120614151159100_B1","first-page":"58","article-title":"Review article DNA methyl transferase 1: regulatory mechanisms and implications in health and disease","volume":"2","author":"Dhe-Paganon","year":"2011","journal-title":"Int. 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