Dominant Pathogenic Disease Research Paper

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) Introduction. What is a dominant pathogenic mutation? Is the KID syndrome a dominant pathogenic disease? Explain.
A. Dominant pathogenic mutations display their traits despite another copy remains present. The lethal form of keratitis-ichthyosis-deafness (KID) syndrome is caused by the reversion of the GJB2 nonsense mutation p.Tyr136X that would otherwise have confined the effect of another dominant lethal mutation, p.Gly45Glu, in the same allele
2) Introduction. What are the symptoms of the KID syndrome? What is the specific mutation that causes the symptoms? Explain.
A. The symptoms of KID syndrome are vascularizing keratitis, ichthyosiform erythroderma and sensorineural hearing loss. KID syndrome is mainly caused by a heterozygous germ line missense mutation in GJB2 encoding Cx26.
3 Introduction. What is the main hypothesis of the paper? Explain.
A. p.Tyr136X mutation is able to confine the pathogenic effect of p.Gly45Glu in the mother and the reversion of p.Tyr136X
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The blood cells of the patient did not show mosaicism, and the patient’s skin symptoms were fairly evenly distributed over the entire body surface. These findings suggest that the patient was not mosaic for the GJB2 mutation.
7) Results. What is the role of Gly45 in the Cx26 gene? What is the role of the protein? What does the p.Gly45Glu do to the protein function? How does the second mutation prevent the disease? Explain.
A. Connexons containing p.Gly45Glu mutants function as hemichannels with aberrantly increased activity that leads to the disease manifestations. Gly45 locates at a domain that lines the channel pore and probably mediates voltage sensing. Cx26 carrying p.Gly45Glu/p.Tyr136X alteration would be excluded from the hexameric connexons, a second-site mutation cancels an exsisting pathogenic mutation.
8) Results. What tools did they use to show the localization of the different proteins? What did they find on the localization and function of the different proteins?
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