Provide a short answer for each of the questions below. For individuals homozygous for the Duffy gene mutation, which increases resistance to malaria, answer the following questions: 1)What impact do you expect the GATA → GACA mutation will have on the level of Duffy protein expression in red blood cells? 2)What impact do you expect the GATA → GACA mutation will have on the level of Duffy protein expression in endothelial and Purkinje (brain) cells? 3)Explain how this mutation leads to the level of Duffy expression you expect in the different cell types.

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Provide a short answer for each of the questions below. For individuals homozygous for the Duffy gene mutation, which increases resistance to malaria, answer the following questions: 1)What impact do you expect the GATA → GACA mutation will have on the level of Duffy protein expression in red blood cells? 2)What impact do you expect the GATA → GACA mutation will have on the level of Duffy protein expression in endothelial and Purkinje (brain) cells? 3)Explain how this mutation leads to the level of Duffy expression you expect in the different cell types.
A mutation in the Duffy gene enhancer region was
found in the malaria resistant populations.
(a) Duffy normal
Duffy protein
Blood
Purkinje Endothelial cells
- Malarial
parasite
GATA
Duffy
Cell-specific
enhancers
Duffy coding
sequence
Duffy Gene
Loci
(b) Duffy mutant
Blood
Purkinje Endothelial cells
-Parasites
cannot bind
GACA
Duffy
mutation of GATA to GACA
Transcribed Image Text:A mutation in the Duffy gene enhancer region was found in the malaria resistant populations. (a) Duffy normal Duffy protein Blood Purkinje Endothelial cells - Malarial parasite GATA Duffy Cell-specific enhancers Duffy coding sequence Duffy Gene Loci (b) Duffy mutant Blood Purkinje Endothelial cells -Parasites cannot bind GACA Duffy mutation of GATA to GACA
Malaria Resistance and the Duffy Antigen
Distribution
of malaria
% of population
with Duffy
negative RBCs
0-5%
15-10%
10-20%
20-30%
30-50%
50-70%
70-90%
Howes et al., 2011, Nature Communications
Duffy protein, found on the surface of red blood cells (RBCs), purkinje
cells and endothelial cells functions as a chemokine receptor.
Duffy protein also serves as a receptor for Plasmodium vivax, a parasite
that invades RBCs and cause malaria.
95% of the African population don't express Duffy specifically on their
RBCs due to a genetic mutation in the gene loci - this confers resistance
to malaria in these people.
Transcribed Image Text:Malaria Resistance and the Duffy Antigen Distribution of malaria % of population with Duffy negative RBCs 0-5% 15-10% 10-20% 20-30% 30-50% 50-70% 70-90% Howes et al., 2011, Nature Communications Duffy protein, found on the surface of red blood cells (RBCs), purkinje cells and endothelial cells functions as a chemokine receptor. Duffy protein also serves as a receptor for Plasmodium vivax, a parasite that invades RBCs and cause malaria. 95% of the African population don't express Duffy specifically on their RBCs due to a genetic mutation in the gene loci - this confers resistance to malaria in these people.
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