Hereditary spherocytosis associated with a deletion of human erythrocyte ankyrin gene on chromosome 8

Article Abstract:

Hereditary spherocytosis (HS) is characterized by the appearance of red blood cells which are globular, rather than with the normal indentation which is seen as a pale center under the microscope. This condition is the most common form of hereditary hemolytic anemia. Some patients have a mutation in the protein spectrin, which is found in large quantities just inside the membrane of red blood cells. However, the majority of patients with hereditary spherocytosis have no such mutation. Furthermore, the alpha and beta chains of spectrin have their genes on chromosomes 1 and 14, respectively, while the gene for HS seems to map to chromosome 8. Researchers have now cloned the gene for ankyrin, another important red cell protein, and found it to be located on chromosome 8, precisely at 8p11.2. Additionally, in two unrelated patients with HS, a deletion has been identified in this chromosomal region. Affected red cells were demonstrated to be ankyrin-deficient. While the location of the HS gene is not mapped with sufficient precision to say that it is indeed the anykrin gene, the results suggest that a defect or deficiency in ankyrin may be responsible for hereditary spherocytosis. (Consumer Summary produced by Reliance Medical Information, Inc.)

Causes of, Human genetics, Chromosomes, Hemolytic anemia, Heredity, Human, Human heredity, Spherocytosis, Hereditary, Hereditary spherocytosis

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Mouse microcytic anaemia caused by a defect in the gene encoding the globin enhancer-binding protein NF-E2

Article Abstract:

The relationship of microcytic anemia in mk mice and the functional properties of the nuclear DNA-binding protein NF-E2 was investigated. NF-E2 mediates the strong erythroid-enhancing activity of the alpha- and beta-globin locus control region, and is involved in the synthesis of porphobilinogen deaminase and ferrochelatase, two key enzymes in heme biosynthesis. The results showed that the mk mutation affects the gene encoding the p45 polypeptide component of NF-E2. Microcytic anemia in mk mice is thus due to impaired regulation of globin synthesis and iron metabolism arising from impaired NF-E2 function.

Hemoglobin, Hemoglobins, Genetic regulation, Genetic transcription, Transcription (Genetics), DNA binding proteins

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Nanospring behaviour of ankyrin repeats

Article Abstract:

Tandem ankyrin repeats exhibit tertiary-structure-based elasticity and behave as a linear and fully reversible spring in single-molecule measurements by atomic force microscopy. An unexpected ability of unfolded repeats to generate force during refolding is observed and shown that the spring properties of arkyrin repeats could be important in mechanotransduction and in the design of nanodevices.

Science & research, Observations, Nanotechnology, Atomic force microscopy, Transients (Dynamics)

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