{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T17:27:45Z","timestamp":1790616465872,"version":"4.1.0"},"reference-count":31,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2020,12,18]],"date-time":"2020-12-18T00:00:00Z","timestamp":1608249600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/501100001665","name":"French National Research Agency","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"name":"BioPark Platform of Archamps"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,2,18]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>After the two meiotic divisions, haploid round spermatids undergo dramatic changes to become mature spermatozoa. One of the main transformations consists of compacting the cell nucleus to confer the sperm its remarkable hydrodynamic property and to protect its DNA from the oxidative stress it will encounter during its reproductive journey. Here, we studied an infertile subject with low sperm count, poor motility and highly abnormal spermatozoa with strikingly large heads due to highly uncondensed nuclear sperm DNA. Whole-exome sequencing was performed on the subject\u2019s DNA to identify the genetic defect responsible for this severe sperm anomaly. Bioinformatics analysis of exome sequence data uncovered a homozygous loss of function variant, ENST00000368559.7:c.718-1G&amp;gt;A, altering a consensus splice site expected to prevent the synthesis of the nucleoporin 210 like (NUP210L) protein. High-resolution mass spectrometry of sperm protein extracts did not reveal any NUP210L peptide sequence in the patient\u2019s sperm, contrary to what was observed in control donors, thus confirming the absence of NUP210L in the patient\u2019s sperm. Interestingly, homozygous Nup210l knock-out mice have been shown to be infertile due to a reduced sperm count, a high proportion of round-headed sperm, other head and flagella defects and a poor motility. NUP210L is almost exclusively expressed in the testis and sequence analogy suggests that it encodes a nuclear pore membrane glycoprotein. The protein might be crucial to regulate nuclear trafficking during and\/or before spermiogenesis, its absence potentially impeding adequate nuclear compaction by preventing the entry of histone variants\/transition proteins\/protamines into the nucleus and\/or by preventing the adequate replacement of core histones. This work describes a new gene necessary for male fertility, potentially improving the efficiency of the genetic diagnosis of male infertility. The function of NUP210L still remains to be resolved and its future investigation will help to understand the complex mechanisms necessary for sperm compaction.<\/jats:p>","DOI":"10.1093\/humrep\/deaa329","type":"journal-article","created":{"date-parts":[[2020,11,3]],"date-time":"2020-11-03T20:17:24Z","timestamp":1604434644000},"page":"693-701","source":"Crossref","is-referenced-by-count":36,"title":["Defect in the nuclear pore membrane glycoprotein 210-like gene is associated with extreme uncondensed sperm nuclear chromatin and male infertility: a case report"],"prefix":"10.1093","volume":"36","author":[{"given":"Karim","family":"Arafah","sequence":"first","affiliation":[{"name":"Plateforme BioPark d\u2019Archamps, Archamps, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabrice","family":"Lopez","sequence":"additional","affiliation":[{"name":"INSERM U1090, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Cazin","sequence":"additional","affiliation":[{"name":"Institute for Advanced Biosciences, CR Inserm U1209, CNRS UMR5309, University Grenoble Alpes, Team \u00ab G\u00e9n\u00e9tique, \u00c9pig\u00e9n\u00e9tique et Th\u00e9rapies de l'infertilit\u00e9 \u00bb, Grenoble, France"},{"name":"CHU Grenoble Alpes, UM GI-DPI, Grenoble 38000, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zine-Eddine","family":"Kherraf","sequence":"additional","affiliation":[{"name":"Institute for Advanced Biosciences, CR Inserm U1209, CNRS UMR5309, University Grenoble Alpes, Team \u00ab G\u00e9n\u00e9tique, \u00c9pig\u00e9n\u00e9tique et Th\u00e9rapies de l'infertilit\u00e9 \u00bb, Grenoble, France"},{"name":"CHU Grenoble Alpes, UM GI-DPI, Grenoble 38000, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginie","family":"Tassistro","sequence":"additional","affiliation":[{"name":"Aix Marseille Universit\u00e9, Avignon Universit\u00e9, CNRS, IRD, IMBE, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anderson","family":"Loundou","sequence":"additional","affiliation":[{"name":"Department of Public Health, Faculty of Medicine, Methodological Assistance Unity for Clinical Research, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christophe","family":"Arnoult","sequence":"additional","affiliation":[{"name":"Institute for Advanced Biosciences, CR Inserm U1209, CNRS UMR5309, University Grenoble Alpes, Team \u00ab G\u00e9n\u00e9tique, \u00c9pig\u00e9n\u00e9tique et Th\u00e9rapies de l'infertilit\u00e9 \u00bb, Grenoble, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Thierry-Mieg","sequence":"additional","affiliation":[{"name":"Univ. Grenoble Alpes, CNRS, TIMC-IMAG\/BCM, Grenoble 38000, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Bulet","sequence":"additional","affiliation":[{"name":"Plateforme BioPark d\u2019Archamps, Archamps, France"},{"name":"Institute for Advanced Biosciences, CR Inserm U1209, CNRS UMR5309, University Grenoble Alpes, Team \u00ab Immunologie Analytique des Pathologies Chroniques \u00bb, Grenoble, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Roberte","family":"Guichaoua","sequence":"additional","affiliation":[{"name":"Aix Marseille Universit\u00e9, Avignon Universit\u00e9, CNRS, IRD, IMBE, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre F","family":"Ray","sequence":"additional","affiliation":[{"name":"Institute for Advanced Biosciences, CR Inserm U1209, CNRS UMR5309, University Grenoble Alpes, Team \u00ab G\u00e9n\u00e9tique, \u00c9pig\u00e9n\u00e9tique et Th\u00e9rapies de l'infertilit\u00e9 \u00bb, Grenoble, France"},{"name":"CHU Grenoble Alpes, UM GI-DPI, Grenoble 38000, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,12,18]]},"reference":[{"key":"2021021818580762500_deaa329-B1","doi-asserted-by":"crossref","first-page":"e1900110","DOI":"10.1002\/prca.201900110","article-title":"Microproteomics and immunohistochemistry reveal differences in Aldo-Keto reductase family 1 member C3 in tissue specimens of ulcerative colitis and Crohn\u2019s disease","volume":"14","author":"Arafah","year":"2020","journal-title":"Prot Clin Appl"},{"key":"2021021818580762500_deaa329-B2","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/j.ajhg.2013.11.017","article-title":"Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella","volume":"94","author":"Ben 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