{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T01:43:20Z","timestamp":1791164600489,"version":"4.1.0"},"reference-count":27,"publisher":"National Academy of Sciences","issue":"38","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2006,9,19]]},"abstract":"<jats:p>\n                    We have generated mice from a\n                    <jats:italic>N<\/jats:italic>\n                    -ethyl-\n                    <jats:italic>N<\/jats:italic>\n                    -nitrosourea mutagenesis screen that carry a mutation in the translation initiation codon of\n                    <jats:italic>Gata-1<\/jats:italic>\n                    , termed\n                    <jats:italic>Plt13<\/jats:italic>\n                    , which is equivalent to mutations found in patients with acute megakaryoblastic leukemia and Down syndrome. The\n                    <jats:italic>Gata-1<\/jats:italic>\n                    locus is present on the X chromosome in humans and in mice. Male mice hemizygous for the mutation (\n                    <jats:italic>\n                      Gata-1\n                      <jats:sup>Plt13<\/jats:sup>\n                    <\/jats:italic>\n                    \/Y) failed to produce red blood cells and died during embryogenesis at a similar stage to\n                    <jats:italic>Gata-1<\/jats:italic>\n                    -null animals. Female mice that carry the\n                    <jats:italic>Plt13<\/jats:italic>\n                    mutation are mosaic because of random inactivation of the X chromosome. Adult\n                    <jats:italic>Gata-1<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>Plt13<\/jats:italic>\n                      \/+\n                    <\/jats:sup>\n                    females were not anemic, but they were thrombocytopenic and accumulated abnormal megakaryocytes without a concomitant increase in megakaryocyte progenitor cells.\n                    <jats:italic>Gata-1<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>Plt13<\/jats:italic>\n                      \/+\n                    <\/jats:sup>\n                    mice contained large numbers of blast-like colony-forming cells, particularly in the fetal liver, but also in adult spleen and bone marrow, from which continuous mast cells lines were readily derived. Although the equivalent mutation to\n                    <jats:italic>\n                      Gata-1\n                      <jats:sup>Plt13<\/jats:sup>\n                    <\/jats:italic>\n                    in humans results in production of GATA-1s, a short protein isoform initiated from a start codon downstream of the mutated initiation codon, Gata-1s was not detected in\n                    <jats:italic>Gata-1<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>Plt13<\/jats:italic>\n                      \/+\n                    <\/jats:sup>\n                    mice.\n                  <\/jats:p>","DOI":"10.1073\/pnas.0606439103","type":"journal-article","created":{"date-parts":[[2006,9,11]],"date-time":"2006-09-11T20:45:51Z","timestamp":1158007551000},"page":"14146-14151","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":19,"title":["A mutation in the translation initiation codon of\n                    <i>Gata-1<\/i>\n                    disrupts megakaryocyte maturation and causes thrombocytopenia"],"prefix":"10.1073","volume":"103","author":[{"given":"Ian J.","family":"Majewski","sequence":"first","affiliation":[{"name":"*The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3050, Australia;"},{"name":"Department of Medical Biology, University of Melbourne, Parkville, Victoria 3010, Australia; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donald","family":"Metcalf","sequence":"additional","affiliation":[{"name":"*The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3050, Australia;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa A.","family":"Mielke","sequence":"additional","affiliation":[{"name":"*The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3050, Australia;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle L.","family":"Krebs","sequence":"additional","affiliation":[{"name":"*The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3050, Australia;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Ellis","sequence":"additional","affiliation":[{"name":"Peter MacCallum Cancer Centre, Trescowthick Research Laboratories, St. Andrew's Place, East Melbourne, Victoria 3002, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina R.","family":"Carpinelli","sequence":"additional","affiliation":[{"name":"*The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3050, Australia;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Mifsud","sequence":"additional","affiliation":[{"name":"*The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3050, Australia;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ladina","family":"Di Rago","sequence":"additional","affiliation":[{"name":"*The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3050, Australia;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason","family":"Corbin","sequence":"additional","affiliation":[{"name":"*The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3050, Australia;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicos A.","family":"Nicola","sequence":"additional","affiliation":[{"name":"*The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3050, Australia;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglas J.","family":"Hilton","sequence":"additional","affiliation":[{"name":"*The Walter and Eliza Hall Institute of Medical Research, 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