作者
Avik Choudhuri, Eirini Trompouki, Brian J Abraham, William Mallard, Min-Lee Yang, Alireza Ghamari, Kanen Hoi, Barbara Hummel, Sonja Boatman, Victoria Chan, Teresa V Bowman, Song Yang, Yi Zhou, Sinichiro Takahashi, Alan B Cantor, Santhi Ganesh, John Rinn, Richard A Young, Leonard I Zon
发表日期
2017/12/8
期刊
Blood
卷号
130
页码范围
773
出版商
Content Repository Only!
简介
Single Nucleotide Polymorphisms (SNPs) identified through genome-wide association studies (GWAS) could provide insight into the mechanism of human genetic diseases. Here we have studied SNPs that are associated with six critical red blood cell traits - hemoglobin concentration (Hb), hematocrit (Hct), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC) and red blood cell count (RBC). During erythroid differentiation of human CD34+ cells, we mapped enhancers and open chromatin regions by H3K27Ac ChIPseq and ATACseq, and studied the SNPs that reside within these DNA regulatory elements. We followed genomic binding of lineage restricted GATA transcription factors and BMP signal responsive transcription factor SMAD1 in CD34+ cells during erythropoiesis. By overlapping their genomic occupancy with stage-matched …
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A Choudhuri, E Trompouki, BJ Abraham, W Mallard… - Blood, 2017