Featured
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Letter |
HSP70 sequestration by free α-globin promotes ineffective erythropoiesis in β-thalassaemia
In human β-thalassaemiaerythroblasts, HSP70 is sequestered in the cytoplasm by the excess of free α-globin chains and can no longer protect the master transcriptional factor of erythropoiesis GATA-1 from caspase-3 cleavage; transduction of a nuclear-targeted HSP70 or a caspase-3 uncleavable GATA-1 mutant restored maturation of erythropoiesis.
- Jean-Benoît Arlet
- , Jean-Antoine Ribeil
- & Geneviève Courtois
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Article |
Seventy-five genetic loci influencing the human red blood cell
A series of genetic studies have led to the discovery of novel independent loci and candidate genes associated with red blood cell phenotype; for a proportion of these genes potential single-nucleotide genetic variants are also identified, providing new insights into genetic pathways controlling red blood cell formation, function and pathology.
- Pim van der Harst
- , Weihua Zhang
- & John C. Chambers
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Letter |
Genotoxic consequences of endogenous aldehydes on mouse haematopoietic stem cell function
The function of haematopoietic stem and progenitor cells is impaired by damaged DNA; here, endogenously generated aldehydes are found to be one source of such damage, which is repaired by the Fanconi anaemia pathway.
- Juan I. Garaycoechea
- , Gerry P. Crossan
- & Ketan J. Patel
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News |
Sickle-cell mystery solved
Researchers discover how carriers of the sickle-cell anaemia gene are protected from malaria.
- Meredith Wadman
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News & Views |
Alcohol, DNA and disease
Acetaldehyde, a reactive metabolite of ethanol, can damage DNA unless properly processed. A biochemical pathway involved in Fanconi anaemia seems to be essential for protection against such damage. See Article p.53
- Hans Joenje
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Article |
Fancd2 counteracts the toxic effects of naturally produced aldehydes in mice
- Frédéric Langevin
- , Gerry P. Crossan
- & Ketan J. Patel
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News |
Gene-therapy hope for β-thalassaemia patients
A defective haemoglobin gene has been successfully replaced with a healthy copy.
- Joseph Milton
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Letter |
ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C
Worldwide, 170 million people are infected with the hepatitis C virus, which is a significant cause of liver-related illnesses and deaths. Standard treatment combines pegylated interferon alpha and ribavirin (RBV), but has some negative effects, notably RBV-induced haemolytic anaemia. Here, a genome-wide study shows that a deficiency in the enzyme inosine triphosphatase protects against haemolytic anaemia in patients receiving RBV.
- Jacques Fellay
- , Alexander J. Thompson
- & David B. Goldstein
In situ structural analysis of the human nuclear pore complex