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Domain-focused CRISPR-screen identifies HRI as a regulator of fetal hemoglobin in adult erythroid cells / Jeremy D. Grevet.

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Dissertations & Theses @ University of Pennsylvania Available online

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Format:
Book
Thesis/Dissertation
Author/Creator:
Grevet, Jeremy D., author.
Contributor:
University of Pennsylvania. Department of Cell and Molecular Biology, degree granting institution.
Blobel, Gerd A., degree supervisor.
Language:
English
Subjects (All):
Genetics.
Cell and molecular biology--Penn dissertations.
Penn dissertations--Cell and molecular biology.
Local Subjects:
Genetics.
Cell and molecular biology--Penn dissertations.
Penn dissertations--Cell and molecular biology.
Genre:
Academic theses.
Physical Description:
1 online resource (119 pages)
Contained In:
Dissertations Abstracts International 81-10B.
Place of Publication:
[Philadelphia, Pennsylvania] : University of Pennsylvania ; Ann Arbor : ProQuest Dissertations & Theses, 2020.
Language Note:
English
System Details:
Mode of access: World Wide Web.
text file
Summary:
Increasing fetal hemoglobin (HbF) levels in adult red blood cells provides clinical benefit to patients with sickle cell disease and some forms of β-thalassemia. To identify potentially druggable HbF regulators in adult human erythroid cells, we employed a protein kinase-domain focused CRISPR/Cas9-based genetic screen with a newly optimized sgRNA scaffold. The screen uncovered the heme-regulated inhibitor HRI (also known as EIF2AK1), an erythroid-specific kinase that controls protein translation, as an HbF repressor. HRI depletion markedly increased HbF production in a specific manner and reduced sickling in cultured erythroid cells. Diminished expression of the HbF repressor BCL11A accounted in large part for the effects of HRI depletion. Taken together, these results suggest HRI as a potential therapeutic target for hemoglobinopathies.
Notes:
Source: Dissertations Abstracts International, Volume: 81-10, Section: B.
Advisors: Blobel, Gerd A.
Department: Cell and Molecular Biology.
Ph.D. University of Pennsylvania 2020.
Local Notes:
School code: 0175
ISBN:
9798607317096
Access Restriction:
Restricted for use by site license.
This item must not be sold to any third party vendors.
This item must not be added to any third party search indexes.

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