{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T13:49:53Z","timestamp":1761918593667},"reference-count":28,"publisher":"Proceedings of the National Academy of Sciences","issue":"22","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2004,6]]},"abstract":"<jats:p>\n            <jats:italic>\n              Quaking\n              <jats:sup>viable<\/jats:sup>\n            <\/jats:italic>\n            (\n            <jats:italic>\n              qk\n              <jats:sup>v<\/jats:sup>\n            <\/jats:italic>\n            ) is a recessive neurological mouse mutation with severe dysmyelination of the CNS and spermiogenesis failure. The molecular lesion in the\n            <jats:italic>\n              qk\n              <jats:sup>v<\/jats:sup>\n            <\/jats:italic>\n            mutant is a deletion of \u22481 Mb on mouse chromosome 17 that alters the expression of the\n            <jats:italic>qk<\/jats:italic>\n            gene in oligodendrocytes. Complementation analysis between the\n            <jats:italic>\n              qk\n              <jats:sup>v<\/jats:sup>\n            <\/jats:italic>\n            mutation and\n            <jats:italic>qk<\/jats:italic>\n            mutant alleles generated through chemical mutagenesis showed that the male sterility is a distinctive feature of the\n            <jats:italic>\n              qk\n              <jats:sup>v<\/jats:sup>\n            <\/jats:italic>\n            allele. This observation suggested that the sperm differentiation defect in\n            <jats:italic>\n              qk\n              <jats:sup>v<\/jats:sup>\n            <\/jats:italic>\n            is due to the deletion of a gene(s) distinct from\n            <jats:italic>qk<\/jats:italic>\n            . Here, we demonstrate that the deletion of\n            <jats:italic>Pacrg<\/jats:italic>\n            is the cause of male sterility in the\n            <jats:italic>\n              qk\n              <jats:sup>v<\/jats:sup>\n            <\/jats:italic>\n            mutant.\n            <jats:italic>Pacrg<\/jats:italic>\n            is the mouse homologue of the human\n            <jats:italic>PARKIN<\/jats:italic>\n            -coregulated gene (\n            <jats:italic>PACRG<\/jats:italic>\n            ), which encodes for a protein whose biochemical function remains unclear. We show that\n            <jats:italic>Pacrg<\/jats:italic>\n            is highly expressed in the testes in both mice and humans. In addition, the expression pattern of\n            <jats:italic>Pacrg<\/jats:italic>\n            during spermiogenesis suggests that it plays a role in sperm differentiation. In support of this hypothesis, we show that transgenic expression of\n            <jats:italic>Pacrg<\/jats:italic>\n            in testes restores spermiogenesis and fertility in\n            <jats:italic>\n              qk\n              <jats:sup>v<\/jats:sup>\n            <\/jats:italic>\n            males. This finding provides the first\n            <jats:italic>in vivo<\/jats:italic>\n            evidence, to our knowledge, for the function of Pacrg in a model organism. Immunolocalization experiments on isolated spermatozoa show that the Pacrg protein is present in mature sperm. Remarkably, the mammalian Pacrg protein shares significant sequence similarities with gene products from flagellated protozoans, suggesting that Pacrg may be necessary for proper flagellar formation in many organisms.\n          <\/jats:p>","DOI":"10.1073\/pnas.0401832101","type":"journal-article","created":{"date-parts":[[2004,5,18]],"date-time":"2004-05-18T00:54:16Z","timestamp":1084841656000},"page":"8402-8407","update-policy":"http:\/\/dx.doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":85,"title":["Deletion of the Parkin coregulated gene causes male sterility in the\n            <i>\n              quaking\n              <sup>viable<\/sup>\n            <\/i>\n            mouse mutant"],"prefix":"10.1073","volume":"101","author":[{"given":"Diego","family":"Lorenzetti","sequence":"first","affiliation":[{"name":"Graduate Program in Molecular and Human Genetics, Graduate School of Biomedical Sciences, and Departments of Obstetrics and Gynecology and Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030"}]},{"given":"Colin E.","family":"Bishop","sequence":"additional","affiliation":[{"name":"Graduate Program in Molecular and Human Genetics, Graduate School of Biomedical Sciences, and Departments of Obstetrics and Gynecology and Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030"}]},{"given":"Monica J.","family":"Justice","sequence":"additional","affiliation":[{"name":"Graduate Program in Molecular and Human Genetics, Graduate School of Biomedical Sciences, and Departments of Obstetrics and Gynecology and Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030"}]}],"member":"341","published-online":{"date-parts":[[2004,5,17]]},"reference":[{"key":"e_1_3_2_1_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.144.3616.309"},{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1093\/biolreprod\/5.1.30"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0307832100"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/genetics\/131.1.183"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1994.1227"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.072090399"},{"key":"e_1_3_2_7_2","first-page":"522","volume":"259","year":"2003","unstructured":"Lakiza, O., Villavicencio, E., Walterhouse, D., Goodwin, E. 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