PUBLICATION
Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia
- Authors
- Guernsey, D.L., Jiang, H., Campagna, D.R., Evans, S.C., Ferguson, M., Kellogg, M.D., Lachance, M., Matsuoka, M., Nightingale, M., Rideout, A., Saint-Amant, L., Schmidt, P.J., Orr, A., Bottomley, S.S., Fleming, M.D., Ludman, M., Dyack, S., Fernandez, C.V., and Samuels, M.E.
- ID
- ZDB-PUB-110128-12
- Date
- 2009
- Source
- Nature Genetics 41(6): 651-653 (Journal)
- Registered Authors
- Saint-Amant, Louis
- Keywords
- none
- MeSH Terms
-
- Anemia, Sideroblastic/genetics*
- Animals
- Carrier State
- Family
- Fishes/genetics
- Heme/biosynthesis
- Humans
- Mitochondrial Membrane Transport Proteins/genetics*
- Mutation*
- Phenotype
- Yeasts/genetics
- PubMed
- 19412178 Full text @ Nat. Genet.
Citation
Guernsey, D.L., Jiang, H., Campagna, D.R., Evans, S.C., Ferguson, M., Kellogg, M.D., Lachance, M., Matsuoka, M., Nightingale, M., Rideout, A., Saint-Amant, L., Schmidt, P.J., Orr, A., Bottomley, S.S., Fleming, M.D., Ludman, M., Dyack, S., Fernandez, C.V., and Samuels, M.E. (2009) Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. Nature Genetics. 41(6):651-653.
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.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping