A single point mutation is the cause of the Greek form of hereditary persistence of fetal haemoglobin
Article Abstract:
The -117 point mutation in the gamma-globulin promoter induces the hereditary persistence of fetal hemoglobin (HPFH) phenotype. Moreover, the suppression of the gamma-globulin gene in mice produces a parallel suppression of the linked human beta-globulin gene. These results, obtained by introducing the point mutation into the gamma-globulin gene through genetic engineering, are important because the abnormal presence of gamma-globulin in adults due to HPFH is known to lesson the severity of two diseases, beta-thalassemia and sickle cell anemia.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 1992
User Contributions:
Comment about this article or add new information about this topic:
An intrinsic but cell-nonautonomous defect in GATA-1-overexpressing mouse erythroid cells
Article Abstract:
Research examining the tissue-specific transcription factor GATA-1, which is necessary for the production of red blood cells, is presented. Lethal anaemia results when there is overexpression of GATA-1 in erythroid cells.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 2000
User Contributions:
Comment about this article or add new information about this topic:
Positions, please
Article Abstract:
A gene gives rise to a phenotype through its ability to generate an RNA or protein product. Recent studies indicate that autonomy might be an optical feature for many genes.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 2003
User Contributions:
Comment about this article or add new information about this topic:
- Abstracts: Actin polymerization is induced by Arp2/3 protein complex at the surface of Listeria monocytogenes. Steps and fluctuations of Listeria monocytogenes during actin-based motolity
- Abstracts: Wandering across time. Implications of Deltatheridium specimens for early marsupial history. Epipubic bones in eutherian mammals from the Late Cretaceous of Mongolia
- Abstracts: Identification by mutagenesis of a Mg2+-block site of the NMDA receptor channel. Distinct components of spatial learning revealed by prior training and NMDA receptor blockade
- Abstracts: Modules for molecules. Smell images and the flavour system in the human brain. Olfactory receptors guide axons
- Abstracts: Increased UV-B penetration in a lake owing to drought-induced acidification. Fractal stream chemistry and its implications for contaminant transport in catchments