Discovery of Genes Essential for Heme Biosynthesis through Large-Scale Gene Expression Analysis
Discovery of Genes Essential for Heme Biosynthesis through Large-Scale Gene Expression Analysis
Heme biosynthesis consists of a series of eight enzymatic reactions that originate in mitochondria and continue in the cytosol before returning to mitochondria. Although these core enzymes are well studied, additional mitochondrial transporters and regulatory factors are predicted to be required. To discover such unknown components, we utilized a large-scale computational screen to identify mitochondrial proteins whose transcripts consistently coexpress with the core machinery of heme biosynthesis. We identified SLC25A39, SLC22A4, and TMEM14C, which are putative mitochondrial transporters, as well as C1orf69 and ISCA1, which are iron-sulfur cluster proteins. Targeted knockdowns of all five genes in zebrafish resulted in profound anemia without impacting erythroid lineage specification. Moreover, silencing of Slc25a39 in murine erythroleukemia cells impaired iron incorporation into protoporphyrin IX, and vertebrate Slc25a39 complemented an iron homeostasis defect in the orthologous yeast mtm1Delta deletion mutant. Our results advance the molecular understanding of heme biosynthesis and offer promising candidate genes for inherited anemias.
- Harvard University United States
- University of Rochester School of Medicine and Dentistry United States
- University of Rochester United States
- Massachusetts General Hospital United States
- Brigham and Women´s Hospital
Iron-Sulfur Proteins, 570, Embryo, Nonmammalian, Physiology, HUMDISEASE, Anemia, Cell Biology, Heme, Mitochondrial Membrane Transport Proteins, Mitochondria, Mice, Gene Knockdown Techniques, Multigene Family, Animals, RNA, Small Interfering, Molecular Biology, Zebrafish, Oligonucleotide Array Sequence Analysis
Iron-Sulfur Proteins, 570, Embryo, Nonmammalian, Physiology, HUMDISEASE, Anemia, Cell Biology, Heme, Mitochondrial Membrane Transport Proteins, Mitochondria, Mice, Gene Knockdown Techniques, Multigene Family, Animals, RNA, Small Interfering, Molecular Biology, Zebrafish, Oligonucleotide Array Sequence Analysis
53 Research products, page 1 of 6
- 2017IsRelatedTo
- 2017IsRelatedTo
- 2017IsRelatedTo
- 2017IsRelatedTo
- 2017IsRelatedTo
- 2017IsRelatedTo
- 2017IsRelatedTo
- 2017IsRelatedTo
- 2017IsRelatedTo
- 2019IsRelatedTo
chevron_left - 1
- 2
- 3
- 4
- 5
chevron_right
citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).178 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Top 1% influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Top 10% impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Top 1%
