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- Title
Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia.
- Authors
Guernsey, Duane L.; Haiyan Jiang; Campagna, Dean R.; Evans, Susan C.; Ferguson, Meghan; Kellogg, Mark D.; Lachance, Mathieu; Matsuoka, Makoto; Nightingale, Mathew; Rideout, Andrea; Saint-Amant, Louis; Schmidt, Paul J.; Orr, Andrew; Bottomley, Sylvia S.; Fleming, Mark D.; Ludman, Mark; Dyack, Sarah; Fernandez, Conrad V.; Samuels, Mark E.
- Abstract
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.
- Subjects
ANEMIA; GENETIC disorders; MITOCHONDRIA; EXONS (Genetics); BIOSYNTHESIS; EUKARYOTIC cells
- Publication
Nature Genetics, 2009, Vol 41, Issue 6, p651
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/ng.359