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Related Concept Videos

General Transcription Factors01:30

General Transcription Factors

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Tissue-specific transcription factors contribute to diverse cellular functions in mammals. For example, the gene for beta globin, a major component of hemoglobin, is present in all cells of the body. However, it is only expressed in red blood cells because the transcription factors that can bind to the promoter sequences of the beta globin gene are only expressed in these cells. Tissue-specific transcription factors also ensure that mutations in these factors may impair only the function of...
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The Concept of Multiple Allelism
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Transcription Factors02:16

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Tissue-specific transcription factors contribute to diverse cellular functions in mammals. For example, the gene for beta globin, a major component of hemoglobin, is present in all cells of the body. However, it is only expressed in red blood cells because the transcription factors that can bind to the promoter sequences of the beta globin gene are only expressed in these cells. Tissue-specific transcription factors also ensure that mutations in these factors may impair only the function of...
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Cell Specific Gene Expression01:58

Cell Specific Gene Expression

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Multicellular organisms contain a variety of structurally and functionally distinct cell types, but the DNA in all the cells originated from the same parent cells. The differences in the cells can be attributed to the differential gene expression. Liver cells, whose functions include detoxification of blood, production of bile to metabolize fats, and synthesis of proteins essential for metabolism, must express a specific set of genes to perform their functions. Gene expression also varies with...
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Chromatin Position Affects Gene Expression02:35

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Chromatin is the massive complex of DNA and proteins packaged inside the nucleus. The complexity of chromatin folding and how it is packaged inside the nucleus greatly influences  access to genetic information. Generally, the nucleus' periphery is considered transcriptionally repressive, while the cell's interior is considered a transcriptionally active area. 
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Gene Families

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Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
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CRISPR-Mediated Reorganization of Chromatin Loop Structure
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BCL2L1 is associated with γ-globin gene expression.

Yan Dai1, Elmutaz M Shaikho1,2, Jessica Perez1

  • 1Department of Medicine, Boston University School of Medicine, Boston, MA.

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|October 25, 2019
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Summary
This summary is machine-generated.

BCL2L1 protein is linked to fetal hemoglobin (HbF) gene activation. Inhibiting BCL2L1 reduces HbF expression, while overexpressing it increases fetal hemoglobin (HbF) levels in blood cells.

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Area of Science:

  • Hematology
  • Molecular Biology
  • Genetics

Background:

  • Fetal hemoglobin (HbF) expression is regulated by known genetic factors.
  • Previous research suggested a link between BCL2L1 and HbF expression.

Purpose of the Study:

  • To investigate the role of BCL2L1 in regulating fetal hemoglobin (HbF) gene expression.

Main Methods:

  • Analysis of Genotype-Tissue Expression (GTEx) database.
  • Correlation analysis of BCL2L1 mRNA with HBG mRNA and HbF concentration in patient-derived erythroid progenitors.
  • Functional studies involving BCL2L1 inhibition and overexpression in cell lines (HUDEP-1) and primary erythroid progenitors.

Main Results:

  • BCL2L1 mRNA levels positively correlated with HBG mRNA and HbF concentration in sickle cell disease patients.
  • BCL2L1 inhibition decreased HBG expression.
  • BCL2L1 overexpression significantly increased HBG expression and F cells in both cell lines and primary cells without major effects on differentiation, proliferation, or survival.

Conclusions:

  • BCL2L1 is associated with fetal hemoglobin (HbF) gene activation.
  • BCL2L1 may serve as a potential therapeutic target for increasing HbF levels.