{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T19:58:26Z","timestamp":1792180706079,"version":"4.4.0"},"reference-count":86,"publisher":"The Company of Biologists","issue":"20","license":[{"start":{"date-parts":[[2019,4,15]],"date-time":"2019-04-15T00:00:00Z","timestamp":1555286400000},"content-version":"vor","delay-in-days":182,"URL":"http:\/\/www.biologists.com\/user-licence-1-1\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01HD081379"],"award-info":[{"award-number":["R01HD081379"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01GM11570"],"award-info":[{"award-number":["R01GM11570"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01GM122926"],"award-info":[{"award-number":["R01GM122926"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["F30DK109582"],"award-info":[{"award-number":["F30DK109582"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["T32GM07205"],"award-info":[{"award-number":["T32GM07205"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["T32HD007149"],"award-info":[{"award-number":["T32HD007149"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,10,15]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>A growing number of tissue-specific inherited disorders are associated with impaired ribosome production, despite the universal requirement for ribosome function. Recently, mutations in RPSA, a protein component of the small ribosomal subunit, were discovered to underlie approximately half of all isolated congenital asplenia cases. However, the mechanisms by which mutations in this ribosome biogenesis factor lead specifically to spleen agenesis remain unknown, in part due to the lack of a suitable animal model for study. Here we reveal that RPSA is required for normal spleen development in the frog, Xenopus tropicalis. Depletion of Rpsa in early embryonic development disrupts pre-rRNA processing and ribosome biogenesis, and impairs expression of the key spleen patterning genes nkx2-5, bapx1 and pod1 in the spleen anlage. Importantly, we also show that whereas injection of human RPSA mRNA can rescue both pre-rRNA processing and spleen patterning, injection of human mRNA bearing a common disease-associated mutation cannot. Together, we present the first animal model of RPSA-mediated asplenia and reveal a crucial requirement for RPSA in pre-rRNA processing and molecular patterning during early Xenopus development.<\/jats:p>","DOI":"10.1242\/dev.166181","type":"journal-article","created":{"date-parts":[[2018,10,19]],"date-time":"2018-10-19T08:44:56Z","timestamp":1539938696000},"source":"Crossref","is-referenced-by-count":21,"title":["<i>RPSA<\/i>\n                    , a candidate gene for isolated congenital asplenia, is required for pre-rRNA processing and spleen formation in\n                    <i>Xenopus<\/i>"],"prefix":"10.1242","volume":"145","author":[{"given":"John N.","family":"Griffin","sequence":"first","affiliation":[{"name":"Yale University School of Medicine 1 Pediatric Genomics Discovery Program, Departments of Pediatrics and Genetics , , 333 Cedar Street, New Haven, Connecticut 06510 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel B.","family":"Sondalle","sequence":"additional","affiliation":[{"name":"Yale University School of Medicine 2 Department of Genetics , , 333 Cedar Street, New Haven, Connecticut 06510 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Robson","sequence":"additional","affiliation":[{"name":"Yale University School of Medicine 1 Pediatric Genomics Discovery Program, Departments of Pediatrics and Genetics , , 333 Cedar Street, New Haven, Connecticut 06510 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily K.","family":"Mis","sequence":"additional","affiliation":[{"name":"Yale University School of Medicine 1 Pediatric Genomics Discovery Program, Departments of Pediatrics and Genetics , , 333 Cedar Street, New Haven, Connecticut 06510 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3172-164X","authenticated-orcid":false,"given":"Gerald","family":"Griffin","sequence":"additional","affiliation":[{"name":"Yale University School of Medicine 1 Pediatric Genomics Discovery Program, Departments of Pediatrics and Genetics , , 333 Cedar Street, New Haven, Connecticut 06510 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saurabh S.","family":"Kulkarni","sequence":"additional","affiliation":[{"name":"Yale University School of Medicine 1 Pediatric Genomics Discovery Program, Departments of Pediatrics and Genetics , , 333 Cedar Street, New Haven, Connecticut 06510 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Engin","family":"Deniz","sequence":"additional","affiliation":[{"name":"Yale University School of Medicine 1 Pediatric Genomics Discovery Program, Departments of Pediatrics and Genetics , , 333 Cedar Street, New Haven, Connecticut 06510 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan J.","family":"Baserga","sequence":"additional","affiliation":[{"name":"Yale University School of Medicine 2 Department of Genetics , , 333 Cedar Street, New Haven, Connecticut 06510 , USA"},{"name":"Yale University School of Medicine 3 Departments of Molecular Biophysics and Biochemistry, and Therapeutic Radiology , , 333 Cedar Street, New Haven, Connecticut 06510 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9846-7076","authenticated-orcid":false,"given":"Mustafa K.","family":"Khokha","sequence":"additional","affiliation":[{"name":"Yale University School of Medicine 1 Pediatric Genomics Discovery Program, Departments of Pediatrics and Genetics , , 333 Cedar Street, New Haven, Connecticut 06510 , USA"},{"name":"Yale University School of Medicine 2 Department of Genetics , , 333 Cedar Street, New Haven, Connecticut 06510 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2018,10,18]]},"reference":[{"key":"2024061300162123400_DEV166181C1","doi-asserted-by":"publisher","first-page":"12792","DOI":"10.1073\/pnas.0403929101","article-title":"Identification of 315 genes essential for early zebrafish development","volume":"101","author":"Amsterdam","year":"2004","journal-title":"Proc. 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