Related Experiment Video
Updated: Aug 9, 2026
12:53
Bidirectional Retroviral Integration Site PCR Methodology and Quantitative Data Analysis Workflow
Published on: June 14, 2017
The human integrin beta3 gene is 63 kb and contains a 5'-UTR sequence regulating expression
1Division of Hematology, Department of Medicine, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA.
Blood
|November 14, 1997
Summary
Researchers elucidated the complete genomic organization of the human beta3 gene, identifying a key regulatory sequence in its 5' untranslated region that enhances gene expression and aids in understanding Glanzmann thrombasthenia.
Area of Science:
- Molecular Biology
- Genomics
- Cell Biology
Background:
- The integrin alphaIIbbeta3 (glycoprotein IIb-IIIa) is a crucial human blood platelet fibrinogen receptor.
- Understanding gene organization is essential for studying normal and abnormal gene expression.
Purpose of the Study:
- To determine the size and complete the genomic organization of the human beta3 gene.
- To identify regulatory elements within the beta3 gene promoter and 5'-untranslated region (5'-UTR).
Main Methods:
- Isolation of the entire beta3 gene using P1 plasmid.
- Pulsed-field gel electrophoresis to determine gene size.
- Sequence analysis and homology studies with avian beta3 gene.
- DNaseI and electrophoretic mobility shift assays to identify functional elements.
Main Results:
- The full size of the beta3 gene was determined to be 63 kb, including a large 16.7 kb first intron.
- A significant sequence homology (approx. 50%) was found between the human and avian beta3 gene promoter regions.
- A conserved 5'-UTR sequence (CCGCGGGAGG) was identified, which binds nuclear proteins and augments reporter gene activity by 2.6-fold upon mutation.
Conclusions:
- The complete 5' genomic structure of the human beta3 gene has been elucidated.
- A conserved regulatory element in the 5'-UTR that enhances beta3 gene expression has been identified.
- This genomic information is valuable for understanding Glanzmann thrombasthenia mutagenesis and integrin gene transcriptional regulation.
More Related Videos
10:44Single Cell Multiplex Reverse Transcription Polymerase Chain Reaction After Patch-clamp
Published on: June 20, 2018
10:49Efficient Transcriptionally Controlled Plasmid Expression System for Investigation of the Stability of mRNA Transcripts in Primary Alveolar Epithelial Cells
Published on: March 6, 2020
Related Concept Videos
03:18Non-LTR Retrotransposons
As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
02:40The Eukaryotic Promoter Region
The eukaryotic promoter region is a segment of DNA located upstream of a gene. It contains an RNA polymerase binding site, a transcription start site, and several cis-regulatory sequences. The proximal promoter region is located in the vicinity of the gene and has cis-regulatory sequences and the core promoter. The core promoter is the binding site for RNA polymerase and is usually located between -35 and +35 nucleotides from the transcription start site. The distal promoter regions are...
01:30General Transcription Factors
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...
01:30Structure of a Gene
A gene is the fundamental unit of heredity. Every individual has two copies of each gene, one inherited from each parent. Although most people contain the same genes, there is a small fraction that is slightly different amongst people. A gene with a small difference in its sequence of DNA bases forms different alleles, contributing to different phenotypes.
However, only 1% of the DNA is composed of genes that encode proteins; the rest, 99% is non-coding DNA. This non-coding DNA performs...
However, only 1% of the DNA is composed of genes that encode proteins; the rest, 99% is non-coding DNA. This non-coding DNA performs...
01:16TGF - β Signaling Pathway
The TGF-β signaling pathway regulates cell growth, differentiation, adhesion, motility, and development. TGF-β ligands that induce TGF-β signaling are synthesized in their latent form. Several proteases or cell surface receptors such as integrins act upon the latent form, releasing the active ligand. There are three types of mammalian TGF-βs: (TGF-β1, TGF-β2, and TGF-β3) that bind as homodimers or heterodimers to TGF-β receptors. The TGF-β receptors are of three kinds RI, RII, and RIII. The RI...
01:10Integrins
Animal and protozoan cells do not have cell walls to help maintain shape and provide structural stability. Instead, these eukaryotic cells secrete a sticky mass of carbohydrates and proteins into the spaces between adjacent cells. This network of proteins and molecules is called an extracellular matrix or ECM.
Some ECM proteins assemble into a basement membrane to which the remaining components adhere. Proteoglycans typically form the bulk of the ECM while fibrous proteins, like collagen,...
Some ECM proteins assemble into a basement membrane to which the remaining components adhere. Proteoglycans typically form the bulk of the ECM while fibrous proteins, like collagen,...