A twins heritability study on alpha hemoglobin stabilizing protein (AHSP) expression variability
Cytotoxic precipitation of free α-globin monomers and its production of reactive oxygen species cause red cell membrane damage that leads to anemia and eventually ineffective erythropoiesis in β-thalassemia. Alpha hemoglobin stabilizing protein (AHSP) was found to bind only to free α-globin monomers...
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Cambridge University Press
2010
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my.upm.eprints.128922015-10-05T03:08:08Z http://psasir.upm.edu.my/id/eprint/12892/ A twins heritability study on alpha hemoglobin stabilizing protein (AHSP) expression variability Lai, Mei I. Garner, Chad Jiang, Jie Silver, Nicholas Best, Steve Menzel, Stephan Thein, Swee Lay Cytotoxic precipitation of free α-globin monomers and its production of reactive oxygen species cause red cell membrane damage that leads to anemia and eventually ineffective erythropoiesis in β-thalassemia. Alpha hemoglobin stabilizing protein (AHSP) was found to bind only to free α-globin monomers creating a stable and inert complex which remains soluble in the cytoplasm thus preventing harmful precipitations. Alpha hemoglobin stabilizing protein was shown to bind nascent α-globin monomers with transient strength before transferring α-globin to β-globin to form hemoglobin tetramer. A classical twin study would be beneficial to investigate the role of genetics and environment in the variation of alpha hemoglobin stabilizing protein expression as this knowledge will enable us to determine further investigations with regards to therapeutic interventions if alpha hemoglobin stabilizing protein is to be a therapeutic agent for β-thalassemia. This study investigates the heritability influence of alpha hemoglobin stabilizing protein expression and factors that may contribute to this. Results indicated that a major proportion of alpha hemoglobin stabilizing protein expression was influenced by genetic heritability (46%) with cis-acting factors accounting for 19% and trans-acting factors at 27%. Cambridge University Press 2010-12 Article PeerReviewed application/pdf en http://psasir.upm.edu.my/id/eprint/12892/1/A%20twins%20heritability%20study%20on%20alpha%20hemoglobin%20stabilizing%20protein.pdf Lai, Mei I. and Garner, Chad and Jiang, Jie and Silver, Nicholas and Best, Steve and Menzel, Stephan and Thein, Swee Lay (2010) A twins heritability study on alpha hemoglobin stabilizing protein (AHSP) expression variability. Twin Research and Human Genetics, 13 (6). pp. 567-572. ISSN 1832-4274; ESSN: 1839-2628 10.1375/twin.13.6.567 |
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Cytotoxic precipitation of free α-globin monomers and its production of reactive oxygen species cause red cell membrane damage that leads to anemia and eventually ineffective erythropoiesis in β-thalassemia. Alpha hemoglobin stabilizing protein (AHSP) was found to bind only to free α-globin monomers creating a stable and inert complex which remains soluble in the cytoplasm thus preventing harmful precipitations. Alpha hemoglobin stabilizing protein was shown to bind nascent α-globin monomers with transient strength before transferring α-globin to β-globin to form hemoglobin tetramer. A classical twin study would be beneficial to investigate the role of genetics and environment in the variation of alpha hemoglobin stabilizing protein expression as this knowledge will enable us to determine further investigations with regards to therapeutic interventions if alpha hemoglobin stabilizing protein is to be a therapeutic agent for β-thalassemia. This study investigates the heritability influence of alpha hemoglobin stabilizing protein expression and factors that may contribute to this. Results indicated that a major proportion of alpha hemoglobin stabilizing protein expression was influenced by genetic heritability (46%) with cis-acting factors accounting for 19% and trans-acting factors at 27%. |
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Article |
author |
Lai, Mei I. Garner, Chad Jiang, Jie Silver, Nicholas Best, Steve Menzel, Stephan Thein, Swee Lay |
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Lai, Mei I. Garner, Chad Jiang, Jie Silver, Nicholas Best, Steve Menzel, Stephan Thein, Swee Lay A twins heritability study on alpha hemoglobin stabilizing protein (AHSP) expression variability |
author_facet |
Lai, Mei I. Garner, Chad Jiang, Jie Silver, Nicholas Best, Steve Menzel, Stephan Thein, Swee Lay |
author_sort |
Lai, Mei I. |
title |
A twins heritability study on alpha hemoglobin stabilizing protein (AHSP) expression variability |
title_short |
A twins heritability study on alpha hemoglobin stabilizing protein (AHSP) expression variability |
title_full |
A twins heritability study on alpha hemoglobin stabilizing protein (AHSP) expression variability |
title_fullStr |
A twins heritability study on alpha hemoglobin stabilizing protein (AHSP) expression variability |
title_full_unstemmed |
A twins heritability study on alpha hemoglobin stabilizing protein (AHSP) expression variability |
title_sort |
twins heritability study on alpha hemoglobin stabilizing protein (ahsp) expression variability |
publisher |
Cambridge University Press |
publishDate |
2010 |
url |
http://psasir.upm.edu.my/id/eprint/12892/1/A%20twins%20heritability%20study%20on%20alpha%20hemoglobin%20stabilizing%20protein.pdf http://psasir.upm.edu.my/id/eprint/12892/ |
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13.211869 |