Population analysis of the alpha hemoglobin stabilizing protein (AHSP) gene identifies sequence variants that alter expression and function

American Journal of Hematology

Volumn 83, Issue 2, 2008, Pages 103-108

  Dos Santos, Camila O ^a   Zhou, Suiping ^a   Secolin, Rodrigo ^b   Wang, Xiaomei ^a   Cunha, Anderson F ^b   Higgs, Douglas R ^c   Kwiatkowski, Janet L ^a   Thein, Swee Lay ^d   Gallagher, Patrick G ^e   Costa, Fernando F ^b   Weiss, Mitchell J ^a,f  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b UNIVERSITY OF CAMPINAS   (Brazil)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d KING S COLLEGE HOSPITAL   (United Kingdom)

^e YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA HEMOGLOBIN STABILIZING PROTEIN; HEMOGLOBIN; OCTAMER TRANSCRIPTION FACTOR 1; PROTEIN; REACTIVE OXYGEN METABOLITE; UNCLASSIFIED DRUG;

AHSP GENE; AMINO ACID SUBSTITUTION; ARTICLE; BETA THALASSEMIA; GENE; GENE EXPRESSION; GENE FUNCTION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; POPULATION RESEARCH; PRIORITY JOURNAL; PROTEIN FUNCTION;

AMINO ACID SUBSTITUTION; BETA-THALASSEMIA; BLOOD PROTEINS; DNA; GENE EXPRESSION REGULATION; GENOME, HUMAN; GENOTYPE; HUMANS; MOLECULAR CHAPERONES; PHYLOGENY; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS (GENETICS); THALASSEMIA; VARIATION (GENETICS);

EID: 38349170152     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.21041     Document Type: Article

References (25)

1. Cunningham MJ, Macklin EA, Neufeld EJ, et al. Complications of beta-thalassemia major in North America. Blood 2004;104:34-39.
2. Schrier SL. Pathophysiology of thalassemia. Curr Opin Hematol 2002;9:123-126.
3. Weatherall DJ. Phenotype-genotype relationships in monogenic disease: Lessons from the thalassaemias. Nat Rev Genet 2001;2:245-255.
4. Kihm AJ, Kong Y, Hong W, et al. An abundant erythroid protein that stabilizes free alpha hemoglobin. Nature 2002;417:758-763.
5. Kong Y, Zhou S, Kihm AJ, et al. Loss of alpha-hemoglobin-stabilizing protein impairs erythropoiesis and exacerbates beta-thalassemia. J Clin Invest 2004;114:1457-1466.
6. Cappellini MD, Refaldi C, Bignamini D, et al. Molecular analysis of alpha hemoglobin stabilizing protein (AHSP) in Caucasion patients with different beta-thalassemia phenotypes. Blood 2004;104a:29b.
7. dos Santos CO, Duarte AS, Saad ST, et al. Expression of alpha hemoglobin stabilizing protein gene (AHSP) during erythropoiesis and beta thalassemia. Blood 2003;102:3837a.
8. Galanello R, Perseu L, Giagu N, Sole G. AHSP expression in beta-thalassemia carriers with thalassemia intermedia phenotype. Blood 2003;102:abstract-1881.
9. Lai MI, Jiang J, Silver N, et al. Alpha-haemoglobin stabilising protein is a quantitative trait gene that modifies the phenotype of beta-thalassaemia. Br J Haematol 2006;133:675-682.
10. Premawardhena A, Fisher CA, Olivieri NF, et al. Haemoglobin E beta thalassaemia in Sri Lanka. Lancet 2005;366:1467-1470.
11. Viprakasit V, Tanphaichitr VS, Chinchang W, et al. Evaluation of alpha hemoglobin stabilizing protein (AHSP) as a genetic modifier in patients with beta thalassemia. Blood 2004;103:3296-3299.
12. Gallagher PG, Liem RI, Wong E, et al. GATA-1 and Oct-1 are required for expression of the human alpha-hemoglobin-stabilizing protein gene. J Biol Chem 2005;280:39016-39023.
13. Santiveri CM, Perez-Canadillas JM, Vadivelu MK, et al. NMR structure of the alpha-hemoglobin stabilizing protein: Insights into conformational heterogeneity and binding. J Biol Chem 2004;279:34963-34970.
14. Gell D, Kong Y, Eaton SA, et al. Biophysical characterization of the alpha-globin binding protein alpha-hemoglobin stabilizing protein. J Biol Chem 2002;277:40602-40609.
15. Feng L, Gell DA, Zhou S, et al. Molecular mechanism of AHSP-mediated stabilization of alpha-hemoglobin. Cell 2004;119:629-640.
16. Feng L, Zhou S, Gu L, et al. Structure of oxidized alpha-haemoglobin bound to AHSP reveals a protective mechanism for haem. Nature 2005;435:697-701.
17. Zhou S, Olson JS, Fabian M, et al. Biochemical fates of alpha hemoglobin bound to alpha hemoglobin stabilizing protein (AHSP). J Biol Chem 2006;281:32611-32618.
18. Glock B, Winter M, Rennhofer SO, et al. Transcript level of erythroid differentiation-related factor, a candidate surrogate marker for transmissible spongiform encephalopathy diseases in blood, shows a broad range of variation in healthy individuals. Transfusion 2003;43:1706-1710.
19. Kanno H, Kamatani N, Hamada T, et al. Alpha hemoglobin stabilizing protein (AHSP) is a susceptibility gene to drug/infection-induced hemolytic anemia. Blood 2005;106:479a.
20. den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion. Hum Mutat 2000;15:7-12.
21. Barrett JC, Fry B, Maller J, et al. Haploview. Analysis and visualization of LD and haplotype maps. Bioinformatics 2005;21:263-265.
22. Corpet F. Multiple sequence alignment with hierarchical clustering. Nucleic Acids Res 1988;16:10881-10890.
23. Thompson JD, Higgins DG, Gibson TJ. CLUSTAL W: Improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Res 1994;22:4673-4680.
24. Bucci E. Preparation of isolated chains of human hemoglobin. In: Antonini E, Luigi R-B, Chiancone E, editors. Methods in Enzymology, Vol. 76. New York: Academic Press; 1981. pp97-105.
25. Herr W, Cleary MA. The POU domain: Versatility in transcriptional regulation by a flexible two-in-one DNA-binding domain. Genes Dev 1995;9:1679-1693.