The D153del Mutation in GNB3 Gene Causes Tissue Specific Signalling Patterns and an Abnormal Renal Morphology in Rge Chickens
Author Information
Author(s): Tummala Hemanth, Fleming Stewart, Hocking Paul M., Wehner Daniel, Naseem Zahid, Ali Manir, Inglehearn Christopher F., Zhelev Nikolai, Lester Douglas H.
Primary Institution: School of Contemporary Sciences, University of Abertay Dundee, Dundee, Scotland, United Kingdom
Hypothesis
The D153del mutation in the GNB3 gene affects GNB3 protein stability and signaling, leading to specific pathological phenotypes in chickens.
Conclusion
The D153del mutation in the GNB3 gene leads to reduced GNB3 signaling, resulting in severe renal abnormalities and blindness in rge chickens.
Supporting Evidence
- The D153del mutation leads to a shorter half-life of the GNB3d protein compared to normal GNB3.
- Histochemical analysis showed glomerulomegaly and tubulointerstitial inflammation in rge chicken kidneys.
- Altered levels of cGMP and cAMP were observed in rge chicken tissues compared to wild type controls.
- Significant decreases in GNB3 protein levels were found in rge chicken tissues.
- Reduced phosphorylation activity of ERK2 and AKT was noted in rge tissues.
Takeaway
A mutation in a gene called GNB3 makes chickens sick by causing problems in their eyes and kidneys.
Methodology
The study involved recombinant studies in COS-7 cells, histochemical analysis of kidney tissues, and measurement of cyclic nucleotide levels.
Limitations
The study lacks a suitable mouse model for further investigation of GNB3 signaling pathways.
Participant Demographics
Chickens with the D153del mutation and wild type controls.
Statistical Information
P-Value
p<0.001
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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