A Twins Heritability Study on Alpha Hemoglobin Stabilizing Protein (AHSP) Expression Variability
نویسندگان
چکیده
منابع مشابه
Evaluation of alpha hemoglobin stabilizing protein (AHSP) as a genetic modifier in patients with beta thalassemia.
Although beta thalassemia is considered to be a classic monogenic disease, it is clear that there is considerable clinical variability between patients who inherit identical beta globin gene mutations, suggesting that there may be a variety of genetic determinants influencing different clinical phenotypes. It has been suggested that variations in the structure or amounts of a highly expressed r...
متن کاملAHSP: a novel hemoglobin helper.
Recently, the small protein alpha hemoglobin-stabilizing protein (AHSP) was identified and found to specifically bind alpha-globin, stabilize its structure, and limit the toxic effects of excess alpha-globin, which are manifest in the inherited blood disorder beta thalassemia. In this issue of the JCI, Yu, Weiss, and colleagues show that AHSP is also critical to the formation and stabilization ...
متن کاملAlpha-hemoglobin stabilizing protein: molecular function and clinical correlation.
The discovery of alpha-hemoglobin stabilizing protein (AHSP), a chaperone for free alpha-hemoglobin (alpha-Hb), has provided a satisfactory solution to the perplexing problem of balanced globin levels for Hb production in erythroid cells in the face of a two-fold excess of alpha-globin to beta-globin gene dosage. Unmatched alpha-Hb is unstable and precipitates onto membranes, where the released...
متن کاملAlpha-Hemoglobin-Stabilizing Protein: An Erythroid Molecular Chaperone
Alpha-hemoglobin-stabilizing protein (AHSP) is an erythroid-specific protein that acts as a molecular chaperone for the free α chains of hemoglobin. Evidence strongly suggests that AHSP participates in hemoglobin synthesis and may act to neutralize the cytotoxic effects of excess free alpha-globin subunits that accumulate both in normal and beta-thalassemic erythroid precursor cells. As such, A...
متن کاملOn the heritability of spontaneous otoacoustic emissions: A twins study.
Spontaneous otoacoustic emissions (SOAEs) were measured in human monozygotic (MZ) and dizygotic (DZ) twins and in a sample of non-twins. The number of SOAEs exhibited was more highly correlated in MZ co-twins than in same-sex DZ co-twins. Model-fitting to the correlations suggested that about three-quarters of the individual variation in the expression of SOAEs is attributable to genes. There w...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Twin Research and Human Genetics
سال: 2010
ISSN: 1832-4274,1839-2628
DOI: 10.1375/twin.13.6.567