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- What is the function of the β globin protein?
- What is the mutation in the beta-globin gene that leads to sickle cell?
- How the mutation affects the hemoglobin gene?
- What is globin gene switching?
- How is the beta-globin polypeptide produced?
- How many nucleotides are in beta-globin mRNA?
- What is the function of globin in hemoglobin?
- What will happen if there is a mutation to the gametes?
- Which type of mutation occurs only in gametes?
- How does changing my DNA change my hemoglobin protein?
- What will happen if there is no globin part in hemoglobin?
- How does each of these errors change the DNA sequence What do you call these changes?
- When does hemoglobin synthesis switch from HbF to HbA?
- What factor regulate globin gene?
- How did globin genes evolve?
What is the function of the β globin protein?
The beta globin protein is one of the subunits of hemoglobin, a protein necessary for the oxygen-carrying function of red blood cells. People with the sickle cell mutation in both copies of the HBB gene produce proteins that clump together and lead to changes in the shape and behavior of red blood cells.
What is the mutation in the beta-globin gene that leads to sickle cell?
Sickle cell disease
The mutation that causes hemoglobin S changes a single protein building block (amino acid) in beta-globin. Specifically, the amino acid glutamic acid is replaced with the amino acid valine at position 6 in beta-globin, written as Glu6Val or E6V.
How the mutation affects the hemoglobin gene?
Normal hemoglobin (left) and hemoglobin in sickled red blood cells (right) look different; the mutation in the DNA slightly changes the shape of the hemoglobin molecule, allowing it to clump together.
What is globin gene switching?
The phenomenon of stage-specific transcription of globin genes is referred to as globin gene switching. Mechanisms of expression switching, stage-specific activation, and repression of transcription of α- and β-globin genes are of interest from both theoretical and practical points of view.
How is the beta-globin polypeptide produced?
HbS is produced by a point mutation in HBB in which the codon GAG is replaced by GTG. This results in the replacement of hydrophilic amino acid glutamic acid with the hydrophobic amino acid valine at the sixth position (β6Glu→Val).
How many nucleotides are in beta-globin mRNA?
Over 300 nucleotides were assigned to the beta-mRNA coding region and 37 nucleotides were assigned to the 3'-terminal noncoding region. The normal termination codon is UAA which is separated by 28 nucleotides from an out of phase UAA triplet.
What is the function of globin in hemoglobin?
The globins are a superfamily of heme-containing globular proteins, involved in binding and/or transporting oxygen. These proteins all incorporate the globin fold, a series of eight alpha helical segments. Two prominent members include myoglobin and hemoglobin.
What will happen if there is a mutation to the gametes?
If a mutation occurs in a germ-line cell (one that will give rise to gametes, i.e., egg or sperm cells), then this mutation can be passed to an organism's offspring. This means that every cell in the developing embryo will carry the mutation.
Which type of mutation occurs only in gametes?
Germ-line mutations occur in gametes or in cells that eventually produce gametes. In contrast with somatic mutations, germ-line mutations are passed on to an organism's progeny.
How does changing my DNA change my hemoglobin protein?
A “mutation” changes the instructions of a gene, which can also change the protein. Sometimes this change makes it so the protein can't do its job as well. And this is what happens with sickle cell anemia. A mutation in the hemoglobin gene changes the hemoglobin protein in a way that causes sickle cell anemia.
What will happen if there is no globin part in hemoglobin?
Alpha globin is made on chromosome 16. So, if any gene that tells chromosome 16 to produce alpha globin is missing or mutated, less alpha globin is made. This affects hemoglobin and decreases the ability of red blood cells to transport oxygen around the body.
How does each of these errors change the DNA sequence What do you call these changes?
A mutation is a change that occurs in our DNA sequence, either due to mistakes when the DNA is copied or as the result of environmental factors such as UV light and cigarette smoke. Mutations can occur during DNA replication if errors are made and not corrected in time.
When does hemoglobin synthesis switch from HbF to HbA?
HbF, optimal for oxygen transport in utero, is progressively replaced by HbA from about 32-36 wk of gestation (1). This maturational phenomenon is clinically important and shows marked individual variation.
What factor regulate globin gene?
PYR is an adult stage–specific factor that binds to a pyrimidine-rich DNA stretch between the γ- and β-globin genes from where it might repress γ-globin and activate β-globin gene expression. Deletion of the PYR element determines a prolonged and delayed switching.
How did globin genes evolve?
On the basis of this conserved basic structure and its prevalence in living organisms, it has been suggested that globin genes evolved from a common ancestral gene which, after successive duplications and speciation events, led to the genes that encode the widespread globin superfamily [1–5].
