{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T13:06:56Z","timestamp":1784639216344,"version":"3.55.0"},"reference-count":50,"publisher":"Oxford University Press (OUP)","issue":"20","license":[{"start":{"date-parts":[[2025,8,25]],"date-time":"2025-08-25T00:00:00Z","timestamp":1756080000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"the Institute of Health and Medicine, Hefei Comprehensive National Science Center, and the Joint Fund for New Medicine of USTC","award":["YD9100002034"],"award-info":[{"award-number":["YD9100002034"]}]},{"name":"the Global Select Project","award":["DJK-LX-2022010"],"award-info":[{"award-number":["DJK-LX-2022010"]}]},{"DOI":"10.13039\/501100001809","name":"the National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["32270901"],"award-info":[{"award-number":["32270901"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"name":"National Key Research and Developmental Program of China","award":["2022YFA0806303 and 2022YFC2702601"],"award-info":[{"award-number":["2022YFA0806303 and 2022YFC2702601"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,10,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>PIWI-interacting RNAs (piRNAs) are small regulatory RNAs (21\u201335 nucleotides) exclusively expressed in germ cells, where they play a critical role in transposable element repression and post-meiotic gene regulation. The poly(A)-specific RNase-like domain-containing 1 (PNLDC1) protein is essential for piRNA maturation, specifically in 3\u2032-end trimming. Disruption of PNLDC1 has been implicated in nonobstructive azoospermia (NOA) and male infertility. Through whole-exome sequencing, we identified a compound heterozygous mutation (MT1 c.449G\u2009&amp;gt;\u2009A, p.Trp150* and MT2 c.821A\u2009&amp;gt;\u2009G, p.His274Ala) in a Chinese NOA patient (P9241) and a homozygous nonsense mutation (MT3 c.1288C\u2009&amp;gt;\u2009T, p.Arg430*) in a Pakistani NOA patient (II:2) born to a consanguineous couple. Mutant PNLDC1 mRNA was detected, but not the corresponding protein, was detected in the testes of P9241. In contrast, truncated PNLDC1 protein was observed in HEK293T cells transfected with a plasmid harboring mutation MT3. To investigate the functional consequences, we generated a Pnldc1KI\/KI mouse model mimicking the MT3 using CRISPR\/Cas9 genome editing, which exhibited infertility due to spermiogenesis arrest, phenocopying the NOA condition in patient II:2. Notably, Pnldc1KI\/KI testes showed significant derepression of the retrotransposon LINE1 and increased spermatid apoptosis. These findings provide strong functional evidence that PNLDC1 mutations disrupt piRNA biogenesis, impair spermatogenesis, and underlie NOA in both humans and mice.<\/jats:p>","DOI":"10.1093\/hmg\/ddaf136","type":"journal-article","created":{"date-parts":[[2025,8,25]],"date-time":"2025-08-25T11:05:39Z","timestamp":1756119939000},"page":"1753-1764","source":"Crossref","is-referenced-by-count":2,"title":["Novel <i>PNLDC1<\/i> mutations underlie nonobstructive azoospermia in humans and mice"],"prefix":"10.1093","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-8753-886X","authenticated-orcid":false,"given":"Meftah","family":"Uddin","sequence":"first","affiliation":[{"name":"Institute of Health and Medicine, Hefei Comprehensive National Science Center, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Division of Life Sciences and Medicine, University of Science and Technology of China , \u00a0443 Huangshan Road, Hefei, Anhui Province 230027 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Ming","sequence":"additional","affiliation":[{"name":"Institute of Health and Medicine, Hefei Comprehensive National Science Center, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Division of Life Sciences and Medicine, University of Science and Technology of China , \u00a0443 Huangshan Road, Hefei, Anhui Province 230027 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feng","family":"Wan","sequence":"additional","affiliation":[{"name":"The Reproductive Medicine Center, Henan Provincial People\u2019s Hospital , 7 Weiwu Rd, Zhengzhou City, Henan 450003 ,","place":["China"]},{"name":"The Reproductive Medicine Center, People\u2019s Hospital of Zhengzhou University , 7 Weiwu Rd, Zhengzhou City, Henan 450003 ,","place":["China"]},{"name":"The Reproductive Medicine Center, Henan Provincial People\u2019s Hospital of Henan University , 7 Weiwu Rd, Zhengzhou City, Henan 450003 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wasim","family":"Shah","sequence":"additional","affiliation":[{"name":"Institute of Health and Medicine, Hefei Comprehensive National Science Center, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Division of Life Sciences and Medicine, University of Science and Technology of China , \u00a0443 Huangshan Road, Hefei, Anhui Province 230027 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mujahid","family":"Husain","sequence":"additional","affiliation":[{"name":"Institute of Health and Medicine, Hefei Comprehensive National Science Center, Hefei National 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