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A Genetic Variant Ameliorates β-Thalassemia Severity by Epigenetic-Mediated Elevation of Human Fetal Hemoglobin Expression

A delayed fetal-to-adult hemoglobin (Hb) switch ameliorates the severity of β-thalassemia and sickle cell disease. The molecular mechanism underlying the epigenetic dysregulation of the switch is unclear. To explore the potential -variants responsible for the Hb switching, we systematically analyzed... Full description

Journal Title: The American Journal of Human Genetics 06 July 2017, Vol.101(1), pp.130-138
Main Author: Chen, Diyu
Other Authors: Zuo, Yangjin , Zhang, Xinhua , Ye, Yuhua , Bao, Xiuqin , Huang, Haiyan , Tepakhan, Wanicha , Wang, Lijuan , Ju, Junyi , Chen, Guangfu , Zheng, Mincui , Liu, Dun , Huang, Shuodan , Zong, Lu , Li, Changgang , Chen, Yajun , Zheng, Chenguang , Shi, Lihong , Zhao, Quan , Wu, Qiang
Format: Electronic Article Electronic Article
Language: English
Subjects:
ID: ISSN: 0002-9297 ; E-ISSN: 1537-6605 ; DOI: 10.1016/j.ajhg.2017.05.012
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recordid: elsevier_sdoi_10_1016_j_ajhg_2017_05_012
title: A Genetic Variant Ameliorates β-Thalassemia Severity by Epigenetic-Mediated Elevation of Human Fetal Hemoglobin Expression
format: Article
creator:
  • Chen, Diyu
  • Zuo, Yangjin
  • Zhang, Xinhua
  • Ye, Yuhua
  • Bao, Xiuqin
  • Huang, Haiyan
  • Tepakhan, Wanicha
  • Wang, Lijuan
  • Ju, Junyi
  • Chen, Guangfu
  • Zheng, Mincui
  • Liu, Dun
  • Huang, Shuodan
  • Zong, Lu
  • Li, Changgang
  • Chen, Yajun
  • Zheng, Chenguang
  • Shi, Lihong
  • Zhao, Quan
  • Wu, Qiang
subjects:
  • Biology
ispartof: The American Journal of Human Genetics, 06 July 2017, Vol.101(1), pp.130-138
description: A delayed fetal-to-adult hemoglobin (Hb) switch ameliorates the severity of β-thalassemia and sickle cell disease. The molecular mechanism underlying the epigenetic dysregulation of the switch is unclear. To explore the potential -variants responsible for the Hb switching, we systematically analyzed an 80-kb region spanning the β-globin cluster using capture-based next-generation sequencing of 1142 Chinese β-thalassemia persons and identified 31 fetal hemoglobin (HbF)-associated haplotypes of the selected 28 tag regulatory single-nucleotide polymorphisms (rSNPs) in seven linkage disequilibrium (LD) blocks. A Ly1 antibody reactive (LYAR)-binding motif disruptive rSNP rs368698783 (G/A) from LD block 5 in the proximal promoter of hemoglobin subunit gamma 1 ( ) was found to be a significant predictor for β-thalassemia clinical severity by epigenetic-mediated variant-dependent HbF elevation. We found this rSNP accounted for 41.6% of β-hemoglobinopathy...
language: eng
source:
identifier: ISSN: 0002-9297 ; E-ISSN: 1537-6605 ; DOI: 10.1016/j.ajhg.2017.05.012
fulltext: fulltext
issn:
  • 0002-9297
  • 00029297
  • 1537-6605
  • 15376605
url: Link


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titleA Genetic Variant Ameliorates β-Thalassemia Severity by Epigenetic-Mediated Elevation of Human Fetal Hemoglobin Expression
creatorChen, Diyu ; Zuo, Yangjin ; Zhang, Xinhua ; Ye, Yuhua ; Bao, Xiuqin ; Huang, Haiyan ; Tepakhan, Wanicha ; Wang, Lijuan ; Ju, Junyi ; Chen, Guangfu ; Zheng, Mincui ; Liu, Dun ; Huang, Shuodan ; Zong, Lu ; Li, Changgang ; Chen, Yajun ; Zheng, Chenguang ; Shi, Lihong ; Zhao, Quan ; Wu, Qiang
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descriptionA delayed fetal-to-adult hemoglobin (Hb) switch ameliorates the severity of β-thalassemia and sickle cell disease. The molecular mechanism underlying the epigenetic dysregulation of the switch is unclear. To explore the potential -variants responsible for the Hb switching, we systematically analyzed an 80-kb region spanning the β-globin cluster using capture-based next-generation sequencing of 1142 Chinese β-thalassemia persons and identified 31 fetal hemoglobin (HbF)-associated haplotypes of the selected 28 tag regulatory single-nucleotide polymorphisms (rSNPs) in seven linkage disequilibrium (LD) blocks. A Ly1 antibody reactive (LYAR)-binding motif disruptive rSNP rs368698783 (G/A) from LD block 5 in the proximal promoter of hemoglobin subunit gamma 1 ( ) was found to be a significant predictor for β-thalassemia clinical severity by epigenetic-mediated variant-dependent HbF elevation. We found this rSNP accounted for 41.6% of β-hemoglobinopathy...
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titleA Genetic Variant Ameliorates β-Thalassemia Severity by Epigenetic-Mediated Elevation of Human Fetal Hemoglobin Expression
description

A delayed fetal-to-adult hemoglobin (Hb) switch ameliorates the severity of β-thalassemia and sickle cell disease. The molecular mechanism underlying the epigenetic dysregulation of the switch is unclear. To explore the potential

-variants responsible for the Hb switching, we systematically analyzed an 80-kb region spanning the β-globin cluster using capture-based next-generation sequencing of 1142 Chinese β-thalassemia persons and identified 31 fetal hemoglobin (HbF)-associated haplotypes of the selected 28 tag regulatory single-nucleotide polymorphisms (rSNPs) in seven linkage disequilibrium (LD) blocks. A Ly1 antibody reactive (LYAR)-binding motif disruptive rSNP rs368698783 (G/A) from LD block 5 in the proximal promoter of hemoglobin subunit gamma 1 (

) was found to be a significant predictor for β-thalassemia clinical severity by epigenetic-mediated variant-dependent HbF elevation. We found this rSNP accounted for 41.6% of β-hemoglobinopathy...

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A delayed fetal-to-adult hemoglobin (Hb) switch ameliorates the severity of β-thalassemia and sickle cell disease. The molecular mechanism underlying the epigenetic dysregulation of the switch is unclear. To explore the potential

-variants responsible for the Hb switching, we systematically analyzed an 80-kb region spanning the β-globin cluster using capture-based next-generation sequencing of 1142 Chinese β-thalassemia persons and identified 31 fetal hemoglobin (HbF)-associated haplotypes of the selected 28 tag regulatory single-nucleotide polymorphisms (rSNPs) in seven linkage disequilibrium (LD) blocks. A Ly1 antibody reactive (LYAR)-binding motif disruptive rSNP rs368698783 (G/A) from LD block 5 in the proximal promoter of hemoglobin subunit gamma 1 (

) was found to be a significant predictor for β-thalassemia clinical severity by epigenetic-mediated variant-dependent HbF elevation. We found this rSNP accounted for 41.6% of β-hemoglobinopathy...

pubElsevier Inc
doi10.1016/j.ajhg.2017.05.012
lad01The American Journal of Human Genetics
oafree_for_read
date2017-07-06