Journal
NATURE GENETICS
Volume 41, Issue 6, Pages 651-653Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.359
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Funding
- Nova Scotia Health Research Foundation
- Nova Scotia Research and Innovation Trust
- IWK Health Centre Foundation
- Dalhousie University
- Capital Health Research Fund
- Fonds de la Recherche en Santede Quebec
- NIH [K01 DK074410, R01 DK080011]
- US Department of Veterans Affairs
- University of Oklahoma Health Sciences Center Provost's Fund
- Oklahoma Center for Advancement of Science and Technology
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The sideroblastic anemias are a heterogeneous group of congenital and acquired hematological disorders whose morphological hallmark is the presence of ringed sideroblasts-bone marrow erythroid precursors containing pathologic iron deposits within mitochondria. Here, by positional cloning, we define a previously unknown form of autosomal recessive nonsyndromic congenital sideroblastic anemia, associated with mutations in the gene encoding the erythroid specific mitochondrial carrier family protein SLC25A38, and demonstrate that SLC25A38 is important for the biosynthesis of heme in eukaryotes.
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