Increased γ‐globin gene expression in β‐thalassemia intermedia patients correlates with a mutation in 3′HS1. Papachatzopoulou, A., Kaimakis, P., Pourfarzad, F., Menounos, P. G., Evangelakou, P., Evangelakou, P., Kollia, P., Grosveld, F., & Patrinos, G. P. American Journal of Hematology, 82(11):1005–1009, November, 2007. MAG ID: 2064300802doi abstract bibtex We report a novel set of genetic markers in the DNaseI hypersensitive sites comprising the human β-globin locus chromatin hub (CH), namely HS-111 and 3′HS1. The HS-111 (−21 G\textgreaterA) and 3′HS1 (+179 C\textgreaterT) transitions form CH haplotypes, which occur at different frequencies in β-thalassemia intermedia and major patients and normal (nonthalassemic) individuals. We also show that the 3′HS1 (+179 C\textgreaterT) variation results in a GATA-1 binding site and correlates with increased fetal hemoglobin production in β-thalassemia intermedia patients. In contrast, the HS-111 (+126 G\textgreaterA) transition, found in three normal chromosomes, is simply a rare polymorphism. We conclude that the CH haplotypes are useful genetic determinants for β-thalassemia major and intermedia patients, while the 3′HS1 (+179 C\textgreaterT) mutation may have functional consequences in γ-globin genes expression. Am. J. Hematol., 2007. © 2007 Wiley-Liss, Inc.
@article{papachatzopoulou_increased_2007,
title = {Increased γ‐globin gene expression in β‐thalassemia intermedia patients correlates with a mutation in 3′{HS1}},
volume = {82},
doi = {10.1002/ajh.20979},
abstract = {We report a novel set of genetic markers in the DNaseI hypersensitive sites comprising the human β-globin locus chromatin hub (CH), namely HS-111 and 3′HS1. The HS-111 (−21 G{\textgreater}A) and 3′HS1 (+179 C{\textgreater}T) transitions form CH haplotypes, which occur at different frequencies in β-thalassemia intermedia and major patients and normal (nonthalassemic) individuals. We also show that the 3′HS1 (+179 C{\textgreater}T) variation results in a GATA-1 binding site and correlates with increased fetal hemoglobin production in β-thalassemia intermedia patients. In contrast, the HS-111 (+126 G{\textgreater}A) transition, found in three normal chromosomes, is simply a rare polymorphism. We conclude that the CH haplotypes are useful genetic determinants for β-thalassemia major and intermedia patients, while the 3′HS1 (+179 C{\textgreater}T) mutation may have functional consequences in γ-globin genes expression. Am. J. Hematol., 2007. © 2007 Wiley-Liss, Inc.},
number = {11},
journal = {American Journal of Hematology},
author = {Papachatzopoulou, Adamantia and Kaimakis, Polynikis and Pourfarzad, Farzin and Menounos, Panagiotis G. and Evangelakou, Panagiota and Evangelakou, Panagiota and Kollia, Panagoula and Grosveld, Frank and Patrinos, George P.},
month = nov,
year = {2007},
doi = {10.1002/ajh.20979},
pmid = {17654503},
note = {MAG ID: 2064300802},
pages = {1005--1009},
}
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