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Mutations in <jats:italic>Dnm2<\/jats:italic>, a <jats:styled-content style=\"fixed-case\">GTP<\/jats:styled-content>ase, are highly disease\u2010specific and have been implicated in four forms of human diseases: centronuclear myopathy, Charcot\u2010Marie Tooth neuropathy and, more recently, T\u2010cell leukaemia and Hereditary Spastic Paraplegia, but red cell abnormalities have not been reported to date. The V235G mutation lies within a crucial <jats:styled-content style=\"fixed-case\">GTP<\/jats:styled-content> nucleotide\u2010binding pocket of <jats:italic>Dnm2<\/jats:italic>, and resulted in defective <jats:styled-content style=\"fixed-case\">GTP<\/jats:styled-content>ase activity and incompatibility with life in the homozygous state. <jats:italic>Dnm2<\/jats:italic> is an essential mediator of clathrin\u2010mediated endocytosis, which is required for the uptake of transferrin (Tf) into red cells for incorporation of haem. Accordingly, we observed significantly reduced Tf uptake by <jats:italic>Dnm2<\/jats:italic><jats:sup><jats:italic>+\/V235G<\/jats:italic><\/jats:sup> cells, which led to impaired endosome formation. Despite these deficiencies, surprisingly all iron studies were unchanged, suggesting an unexplained alternative mechanism underlies microcytic anaemia in <jats:italic>Dnm2<\/jats:italic><jats:sup><jats:italic>+\/V235G<\/jats:italic><\/jats:sup> mice. This study provides the first <jats:italic>in\u00a0vivo<\/jats:italic> evidence for the requirements of <jats:italic>Dnm2<\/jats:italic> in normal erythropoiesis.<\/jats:p>","DOI":"10.1111\/bjh.14709","type":"journal-article","created":{"date-parts":[[2017,5,3]],"date-time":"2017-05-03T08:17:15Z","timestamp":1493799435000},"page":"616-628","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Loss of Dynamin 2 <scp>GTP<\/scp>ase function results in microcytic anaemia"],"prefix":"10.1111","volume":"178","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9711-9769","authenticated-orcid":false,"given":"Fiona C.","family":"Brown","sequence":"first","affiliation":[{"name":"Australian Centre for Blood Diseases Central Clinical School Monash University and Alfred Health Melbourne Vic. 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