{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T17:46:59Z","timestamp":1785865619341,"version":"3.56.0"},"reference-count":26,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,12,21]],"date-time":"2023-12-21T00:00:00Z","timestamp":1703116800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100006005","name":"Agence de la Biom\u00e9decine","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006005","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007586","name":"Aix-Marseille Universit\u00e9","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007586","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001677","name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001677","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Biallelic loss\u2010of\u2010function mutation of\n                    <jats:italic>NUP210L<\/jats:italic>\n                    , encoding a testis\u2010specific nucleoporin, has been reported in an infertile man whose spermatozoa show uncondensed heads and histone retention. Mice with a homozygous transgene intronic insertion in\n                    <jats:italic>Nup210l<\/jats:italic>\n                    were infertile but spermatozoa had condensed heads. Expression from this insertion allele is undefined, however, and residual NUP210L production could underlie the milder phenotype. To resolve this issue, we have created\n                    <jats:italic>Nup210l<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>em1Mjmm<\/jats:italic>\n                    <\/jats:sup>\n                    , a null allele of\n                    <jats:italic>Nup210l<\/jats:italic>\n                    , in the mouse.\n                    <jats:italic>Nup210l<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>em1Mjmm<\/jats:italic>\n                    <\/jats:sup>\n                    homozygotes show uniform mild anomalies of sperm head morphology and decreased motility, but nuclear compaction and histone removal appear unaffected. Thus, our mouse model does not support that NUP210L loss alone blocks spermatid nuclear compaction. Re\u2010analyzing the patient's exome data, we identified a rare, potentially pathogenic, heterozygous variant in nucleoporin gene\n                    <jats:italic>NUP153<\/jats:italic>\n                    (p.Pro485Leu), and showed that, in mouse and human, NUP210L and NUP153 colocalize at the caudal nuclear pole in elongating spermatids and spermatozoa. Unexpectedly, in round spermatids, NUP210L and NUP153 localisation differs between mouse (nucleoplasm) and human (nuclear periphery). Our data suggest two explanations for the increased phenotypic severity associated with NUP210L loss in human compared to mouse: a genetic variant in human\n                    <jats:italic>NUP153<\/jats:italic>\n                    (p.Pro485Leu), and inter\u2010species divergence in nuclear pore function in round spermatids.\n                  <\/jats:p>","DOI":"10.1111\/cge.14468","type":"journal-article","created":{"date-parts":[[2023,12,21]],"date-time":"2023-12-21T21:29:20Z","timestamp":1703194160000},"page":"364-375","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Spermatozoa in mice lacking the nucleoporin\n                    <scp>NUP210L<\/scp>\n                    show defects in head shape and motility but not in nuclear compaction or histone replacement"],"prefix":"10.1111","volume":"105","author":[{"given":"Maha","family":"Al Dala Ali","sequence":"first","affiliation":[{"name":"Aix Marseille University, Inserm, MMG  Marseille France"},{"name":"College of Medicine Al\u2010Iraqia University  Baghdad Iraq"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guy","family":"Longepied","sequence":"additional","affiliation":[{"name":"Aix Marseille University, Inserm, MMG  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aurore","family":"Nicolet","sequence":"additional","affiliation":[{"name":"Aix Marseille University, Inserm, MMG  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Metzler\u2010Guillemain","sequence":"additional","affiliation":[{"name":"Aix Marseille University, Inserm, MMG  Marseille France"},{"name":"AP\u2010HM, P\u00f4le Femmes\u2010Parents\u2010Enfants, Centre Clinico\u2010biologique AMP\u2010CECOS  Marseille Cedex 5 France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2052-7347","authenticated-orcid":false,"given":"Michael J.","family":"Mitchell","sequence":"additional","affiliation":[{"name":"Aix Marseille University, Inserm, MMG  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,12,21]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2012.11.037"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.humrep.a137433"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/des301"},{"key":"e_1_2_8_5_1","volume-title":"Part 2: Changes in spermatid organelles associated with development of spermatozoa","author":"Hermo 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