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Increased γ‐globin gene expression in β‐thalassemia intermedia patients correlates with a mutation in 3′HS1
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| Zeitschriftentitel: | American Journal of Hematology |
|---|---|
| Personen und Körperschaften: | , , , , , , , |
| In: | American Journal of Hematology, 82, 2007, 11, S. 1005-1009 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
Wiley
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| Schlagwörter: |
| author_facet |
Papachatzopoulou, Adamantia Kaimakis, Polynikis Pourfarzad, Farzin Menounos, Panagiotis G. Evangelakou, Panagiota Kollia, Panagoula Grosveld, Frank G. Patrinos, George P. Papachatzopoulou, Adamantia Kaimakis, Polynikis Pourfarzad, Farzin Menounos, Panagiotis G. Evangelakou, Panagiota Kollia, Panagoula Grosveld, Frank G. Patrinos, George P. |
|---|---|
| author |
Papachatzopoulou, Adamantia Kaimakis, Polynikis Pourfarzad, Farzin Menounos, Panagiotis G. Evangelakou, Panagiota Kollia, Panagoula Grosveld, Frank G. Patrinos, George P. |
| spellingShingle |
Papachatzopoulou, Adamantia Kaimakis, Polynikis Pourfarzad, Farzin Menounos, Panagiotis G. Evangelakou, Panagiota Kollia, Panagoula Grosveld, Frank G. Patrinos, George P. American Journal of Hematology Increased γ‐globin gene expression in β‐thalassemia intermedia patients correlates with a mutation in 3′HS1 Hematology |
| author_sort |
papachatzopoulou, adamantia |
| spelling |
Papachatzopoulou, Adamantia Kaimakis, Polynikis Pourfarzad, Farzin Menounos, Panagiotis G. Evangelakou, Panagiota Kollia, Panagoula Grosveld, Frank G. Patrinos, George P. 0361-8609 1096-8652 Wiley Hematology http://dx.doi.org/10.1002/ajh.20979 <jats:title>Abstract</jats:title><jats:p>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>A) and 3′HS1 (+179 C>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>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>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>T) mutation may have functional consequences in γ‐globin genes expression. Am. J. Hematol., 2007. © 2007 Wiley‐Liss, Inc.</jats:p> Increased γ‐globin gene expression in β‐thalassemia intermedia patients correlates with a mutation in 3′HS1 American Journal of Hematology |
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| title |
Increased γ‐globin gene expression in β‐thalassemia intermedia patients correlates with a mutation in 3′HS1 |
| title_unstemmed |
Increased γ‐globin gene expression in β‐thalassemia intermedia patients correlates with a mutation in 3′HS1 |
| title_full |
Increased γ‐globin gene expression in β‐thalassemia intermedia patients correlates with a mutation in 3′HS1 |
| title_fullStr |
Increased γ‐globin gene expression in β‐thalassemia intermedia patients correlates with a mutation in 3′HS1 |
| title_full_unstemmed |
Increased γ‐globin gene expression in β‐thalassemia intermedia patients correlates with a mutation in 3′HS1 |
| title_short |
Increased γ‐globin gene expression in β‐thalassemia intermedia patients correlates with a mutation in 3′HS1 |
| title_sort |
increased γ‐globin gene expression in β‐thalassemia intermedia patients correlates with a mutation in 3′hs1 |
| topic |
Hematology |
| url |
http://dx.doi.org/10.1002/ajh.20979 |
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2007 |
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1005-1009 |
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<jats:title>Abstract</jats:title><jats:p>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>A) and 3′HS1 (+179 C>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>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>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>T) mutation may have functional consequences in γ‐globin genes expression. Am. J. Hematol., 2007. © 2007 Wiley‐Liss, Inc.</jats:p> |
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| author | Papachatzopoulou, Adamantia, Kaimakis, Polynikis, Pourfarzad, Farzin, Menounos, Panagiotis G., Evangelakou, Panagiota, Kollia, Panagoula, Grosveld, Frank G., Patrinos, George P. |
| author_facet | Papachatzopoulou, Adamantia, Kaimakis, Polynikis, Pourfarzad, Farzin, Menounos, Panagiotis G., Evangelakou, Panagiota, Kollia, Panagoula, Grosveld, Frank G., Patrinos, George P., Papachatzopoulou, Adamantia, Kaimakis, Polynikis, Pourfarzad, Farzin, Menounos, Panagiotis G., Evangelakou, Panagiota, Kollia, Panagoula, Grosveld, Frank G., Patrinos, George P. |
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| description | <jats:title>Abstract</jats:title><jats:p>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>A) and 3′HS1 (+179 C>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>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>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>T) mutation may have functional consequences in γ‐globin genes expression. Am. J. Hematol., 2007. © 2007 Wiley‐Liss, Inc.</jats:p> |
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| spelling | Papachatzopoulou, Adamantia Kaimakis, Polynikis Pourfarzad, Farzin Menounos, Panagiotis G. Evangelakou, Panagiota Kollia, Panagoula Grosveld, Frank G. Patrinos, George P. 0361-8609 1096-8652 Wiley Hematology http://dx.doi.org/10.1002/ajh.20979 <jats:title>Abstract</jats:title><jats:p>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>A) and 3′HS1 (+179 C>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>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>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>T) mutation may have functional consequences in γ‐globin genes expression. Am. J. Hematol., 2007. © 2007 Wiley‐Liss, Inc.</jats:p> Increased γ‐globin gene expression in β‐thalassemia intermedia patients correlates with a mutation in 3′HS1 American Journal of Hematology |
| spellingShingle | Papachatzopoulou, Adamantia, Kaimakis, Polynikis, Pourfarzad, Farzin, Menounos, Panagiotis G., Evangelakou, Panagiota, Kollia, Panagoula, Grosveld, Frank G., Patrinos, George P., American Journal of Hematology, Increased γ‐globin gene expression in β‐thalassemia intermedia patients correlates with a mutation in 3′HS1, Hematology |
| title | Increased γ‐globin gene expression in β‐thalassemia intermedia patients correlates with a mutation in 3′HS1 |
| title_full | Increased γ‐globin gene expression in β‐thalassemia intermedia patients correlates with a mutation in 3′HS1 |
| title_fullStr | Increased γ‐globin gene expression in β‐thalassemia intermedia patients correlates with a mutation in 3′HS1 |
| title_full_unstemmed | Increased γ‐globin gene expression in β‐thalassemia intermedia patients correlates with a mutation in 3′HS1 |
| title_short | Increased γ‐globin gene expression in β‐thalassemia intermedia patients correlates with a mutation in 3′HS1 |
| title_sort | increased γ‐globin gene expression in β‐thalassemia intermedia patients correlates with a mutation in 3′hs1 |
| title_unstemmed | Increased γ‐globin gene expression in β‐thalassemia intermedia patients correlates with a mutation in 3′HS1 |
| topic | Hematology |
| url | http://dx.doi.org/10.1002/ajh.20979 |