What does the locus control region do?
Locus control regions (LCRs) are operationally defined by their ability to enhance the expression of linked genes to physiological levels in a tissue-specific and copy number–dependent manner at ectopic chromatin sites.
Which is regulatory region of β globin gene cluster located upstream of the ε gene?
The δ-globin gene is expressed at low levels due to a mutation in the TATA-box like sequence. High-level expression of the β-like globin genes is mediated by a locus control region (LCR) located far upstream of the ε-globin gene (Grosveld, 1999).
Where is the HBB gene located?
In human, the HBB gene is located on chromosome 11 at position p15. 5.
What is an insulator sequence?
“Insulator” is the name given to a class of DNA sequence elements that possess a common ability to protect genes from inappropriate signals emanating from their surrounding environment. A useful distinction may be made between the two ways in which insulators protect an expressing gene from its surroundings.
How does a locus control region regulate a cluster of genes?
A locus control region (LCR) is a long-range cis-regulatory element that enhances expression of linked genes at distal chromatin sites. The LCR functions by recruiting chromatin-modifying, coactivator, and transcription complexes.
What is high locus of control?
People with a high internal locus of control believe that they control their own success or failure; that success or failure is not the result of chance or fate. By contrast, having a high external locus of control would mean that one attributes success or failure to factors outside of their control.
What does control region mean?
Control region may refer to: mtDNA control region, an area of the mitochondrial genome which is non-coding DNA. Internal control region, a sequence of DNA located with the coding region of eukaryotic genes that binds regulatory elements such as activators or repressors.
What is alpha globin gene?
Alpha-globin is a component (subunit) of a larger protein called hemoglobin, which is the protein in red blood cells that carries oxygen to cells and tissues throughout the body. Hemoglobin is made up of four subunits: two subunits of alpha-globin and two subunits of another type of globin.
Is it harmful to have a mutation in the HBB gene for hemoglobin?
The sickle-shaped cells are rigid and can block small blood vessels, causing severe pain and organ damage. Mutations in the HBB gene can also cause other abnormalities in beta-globin, leading to other types of sickle cell disease.
What symptoms would someone show if they had a hemoglobin mutation?
People with sickle cell anemia have an increased risk of serious infection, and fever can be the first sign of an infection. Unexplained episodes of severe pain, such as pain in the abdomen, chest, bones or joints. Swelling in the hands or feet. Abdominal swelling, especially if the area is tender to the touch.
What is an enhancer blocking insulator?
Enhancer-blocking insulators prevent distal enhancers from acting on the promoter of neighbouring genes. Barrier insulators prevent silencing of euchromatin by the spread of neighbouring heterochromatin.
What is a barrier insulator?
Abstract. Insulators are DNA sequence elements that can serve in some cases as barriers to protect a gene against the encroachment of adjacent inactive condensed chromatin. Some insulators also can act as blocking elements to protect against the activating influence of distal enhancers associated with other genes.