{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T11:48:33Z","timestamp":1791978513200,"version":"4.4.0"},"reference-count":34,"publisher":"Cold Spring Harbor Laboratory","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Dev."],"published-print":{"date-parts":[[2001,3,15]]},"abstract":"<jats:p>We have studied the <jats:italic>flexed-tail<\/jats:italic> (<jats:italic>f<\/jats:italic>) mouse to gain insight into mammalian mitochondrial iron metabolism. <jats:italic>Flexed-tail<\/jats:italic>animals have axial skeletal abnormalities and a transient embryonic and neonatal anemia characterized by pathologic intramitochondrial iron deposits in erythrocytes. Mitochondrial iron accumulation is the hallmark of sideroblastic anemias, which typically result from defects in heme biosynthesis or other pathways that lead to abnormal erythroid mitochondrial iron utilization. To clone the<jats:italic>f<\/jats:italic> gene, we used positional cloning techniques, and identified a frameshift mutation in a mitochondrial transmembrane protein. The mutated gene, <jats:italic>Sfxn1<\/jats:italic>, is the prototype of a novel family of evolutionarily conserved proteins present in eukaryotes.<\/jats:p>","DOI":"10.1101\/gad.873001","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T00:00:34Z","timestamp":1027728034000},"page":"652-657","source":"Crossref","is-referenced-by-count":101,"title":["A mutation in a mitochondrial transmembrane protein is responsible for the pleiotropic hematological and skeletal phenotype of <i>flexed-tail<\/i> (<i>f\/f<\/i>) mice"],"prefix":"10.1101","volume":"15","author":[{"given":"Mark D.","family":"Fleming","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dean R.","family":"Campagna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith N.","family":"Haslett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"III","given":"Cameron C.","family":"Trenor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy C.","family":"Andrews","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"246","published-online":{"date-parts":[[2001,3,15]]},"reference":[{"key":"2021111507334062000_15.6.652.1","doi-asserted-by":"publisher","DOI":"10.1038\/35042073"},{"key":"2021111507334062000_15.6.652.2","doi-asserted-by":"publisher","DOI":"10.1007\/BF01108408"},{"key":"2021111507334062000_15.6.652.3","first-page":"165","article-title":"Colony forming cells in the livers of prenatal flexed (f\/f) anaemic mice.","volume":"5","author":"Bateman","year":"1972","journal-title":"Cell Tissue Kinet."},{"key":"2021111507334062000_15.6.652.4","doi-asserted-by":"crossref","first-page":"3256","DOI":"10.1182\/blood.V96.9.3256","article-title":"Human ABC7 transporter: Gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron\u2013sulfur protein maturation.","volume":"96","author":"Bekri","year":"2000","journal-title":"Blood"},{"key":"2021111507334062000_15.6.652.5","unstructured":"Bottomley S.S. (1999) Sideroblastic Anemias. in Wintrobe's clinical hematology, ed Lee G.R. (Williams and Wilkins, Baltimore), pp 1022\u20131045."},{"key":"2021111507334062000_15.6.652.6","doi-asserted-by":"publisher","DOI":"10.1038\/3049"},{"key":"2021111507334062000_15.6.652.7","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1182\/blood.V50.1.165.165","article-title":"Hemoglobin synthesis in siderocytes of flexed-tail mutant (f\/f) fetal mice.","volume":"50","author":"Chui","year":"1977","journal-title":"Blood"},{"key":"2021111507334062000_15.6.652.8","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1111\/j.1365-2141.1976.tb03555.x","article-title":"Haemopoietic progenitor cells in prenatal congenitally anaemic flexed-tailed (f\/f) mice.","volume":"33","author":"Cole","year":"1976","journal-title":"Br. J. Haematol."},{"key":"2021111507334062000_15.6.652.9","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1017\/S0016672300014749","article-title":"Disturbed haem and globin synthesis in reticulocytes of prenatal flexed-tailed (f\/f) anaemic mice.","volume":"23","author":"Cole","year":"1974","journal-title":"Genet. Res."},{"key":"2021111507334062000_15.6.652.10","first-page":"373","article-title":"Activities of haem synthetic enzymes in blood cells of pre-natal flexed-tailed (f\/f) anaemic mice.","volume":"34","author":"Cole","year":"1975","journal-title":"J. Embryol. Exp. Morphol."},{"key":"2021111507334062000_15.6.652.11","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1093\/genetics\/61.3.631","article-title":"Enzymatic studies of the hemopoietic defect in flexed mice.","volume":"61","author":"Coleman","year":"1969","journal-title":"Genetics"},{"key":"2021111507334062000_15.6.652.12","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1172\/JCI105350","article-title":"Experimental production of siderocytes.","volume":"45","author":"Deiss","year":"1966","journal-title":"J. Clin. Invest."},{"key":"2021111507334062000_15.6.652.13","doi-asserted-by":"publisher","DOI":"10.1038\/nm0497-383"},{"key":"2021111507334062000_15.6.652.14","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1111\/j.1365-2141.1967.tb08738.x","article-title":"The cellular basis for the defect in haemopoiesis in flexed-tailed mice. II. The specificity of the defect for erythropoiesis.","volume":"13","author":"Fowler","year":"1967","journal-title":"Br. J. Haematol."},{"key":"2021111507334062000_15.6.652.15","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1111\/j.1365-2141.1975.tb01854.x","article-title":"The cellular basis for the defect in haemopoiesis in flexed-tailed mice. III. Restriction of the defect to erythropoietic progenitors capable of transient colony formation in vivo.","volume":"30","author":"Gregory","year":"1975","journal-title":"Br. J. Haematol."},{"key":"2021111507334062000_15.6.652.16","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1007\/BF02982746","article-title":"The anaemia of flexed-tail mice (Mus musculus l.): I. Static and dynamic haematology.","volume":"43","author":"Gr\u00fcneberg","year":"1942","journal-title":"J. Genet."},{"key":"2021111507334062000_15.6.652.17","doi-asserted-by":"publisher","DOI":"10.1007\/BF02982831"},{"key":"2021111507334062000_15.6.652.18","first-page":"292","article-title":"Ultrastructural characteristics of siderocytes in swine.","volume":"21","author":"Hammond","year":"1969","journal-title":"Lab. Invest."},{"key":"2021111507334062000_15.6.652.19","doi-asserted-by":"crossref","first-page":"798","DOI":"10.1182\/blood.V91.3.798","article-title":"Deficient heme and globin synthesis in embryonic stem cells lacking the erythroid-specific \u03b4-aminolevulinate synthase gene.","volume":"91","author":"Harigae","year":"1998","journal-title":"Blood"},{"key":"2021111507334062000_15.6.652.20","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1093\/genetics\/18.4.335","article-title":"Flexed tail in the mouse, Mus musculus.","volume":"18","author":"Hunt","year":"1933","journal-title":"Genetics"},{"key":"2021111507334062000_15.6.652.21","doi-asserted-by":"publisher","DOI":"10.1002\/jmor.1050580105"},{"key":"2021111507334062000_15.6.652.22","doi-asserted-by":"publisher","DOI":"10.3181\/00379727-146-38054"},{"key":"2021111507334062000_15.6.652.23","doi-asserted-by":"publisher","DOI":"10.1016\/0300-9629(72)90464-1"},{"key":"2021111507334062000_15.6.652.24","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1093\/genetics\/18.4.367","article-title":"Anemia in the flexed tailed mouse, Mus musculus.","volume":"18","author":"Mixter","year":"1933","journal-title":"Genetics"},{"key":"2021111507334062000_15.6.652.25","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/18.22.6282"},{"key":"2021111507334062000_15.6.652.26","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1093\/genetics\/53.5.949","article-title":"Analysis of pleiotropic effects of W and f genic substitutions in the mouse.","volume":"53","author":"Russell","year":"1966","journal-title":"Genetics"},{"key":"2021111507334062000_15.6.652.27","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1093\/genetics\/58.2.259","article-title":"Analysis of effects of W and f genic substitutions on fetal mouse hematology.","volume":"58","author":"Russell","year":"1968","journal-title":"Genetics"},{"key":"2021111507334062000_15.6.652.28","unstructured":"Spector D.L. Goldman R.D. Leinwand L.A. (1998) Isolation of mitochondria from cells and tissues. in Cells: A laboratory manual, ed Spector D.L. (Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY), pp 41.41\u201341.47."},{"key":"2021111507334062000_15.6.652.29","doi-asserted-by":"crossref","first-page":"2157","DOI":"10.1182\/blood.V92.6.2157","article-title":"The G185R mutation disrupts function of the iron transporter Nramp2.","volume":"92","author":"Su","year":"1998","journal-title":"Blood"},{"key":"2021111507334062000_15.6.652.30","first-page":"491","article-title":"Foetal erythropoiesis in genetically anaemic, flexed-tailed (f\/f) mice.","volume":"5","author":"Tarbutt","year":"1972","journal-title":"Cell Tissue Kinet."},{"key":"2021111507334062000_15.6.652.31","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1111\/j.1365-2141.1966.tb05619.x","article-title":"The cellular basis for the defect in haemopoiesis in flexed-tailed mice. I. The nature and persistance of the defect.","volume":"12","author":"Thompson","year":"1966","journal-title":"Br. J. Haematol."},{"key":"2021111507334062000_15.6.652.32","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1111\/j.1600-0609.1987.tb01436.x","article-title":"Hereditary sideroblastic anaemia and autosomal inheritance of erythrocyte dimorphism in a Dutch family.","volume":"38","author":"van Waveren Hogervorst","year":"1987","journal-title":"Eur. J. Haematol."},{"key":"2021111507334062000_15.6.652.33","doi-asserted-by":"publisher","DOI":"10.1007\/BF00296818"},{"key":"2021111507334062000_15.6.652.34","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1995.1255"}],"container-title":["Genes &amp; Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1101\/gad.873001","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,15]],"date-time":"2021-11-15T15:35:31Z","timestamp":1636990531000},"score":1,"resource":{"primary":{"URL":"http:\/\/genesdev.cshlp.org\/lookup\/doi\/10.1101\/gad.873001"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,3,15]]},"references-count":34,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2001,3,15]]}},"alternative-id":["10.1101\/gad.873001"],"URL":"https:\/\/doi.org\/10.1101\/gad.873001","relation":{},"ISSN":["0890-9369","1549-5477"],"issn-type":[{"value":"0890-9369","type":"print"},{"value":"1549-5477","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,3,15]]}}}