User:DaamoonGhahari/sandbox
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Practice Edits:
The architecture of the interrupted gene allows for the process of alternative splicing, where various mRNA products can be produced from a single gene
Advanced Genetics Assignment
Article: Peripheral myelin protein 22
Proposed Bibliography:
1. Watila, M. M., and S. A. Balarabe. Molecular and Clinical Features of Inherited Neuropathies due to PMP22 Duplication. Journal of the neurological sciences 355.1-2 (2015): 18-24. Web. 14 Oct. 2015
2. Van Itallie C. M., and J. M. Anderson. Claudins and epithelial paracellular transport. Annu Rev Physiol 2006;68:403–29.
3. Brennan, K. M., Bai, Y., and M. E. Shy. Demyelinating CMT–what’s known, what’s new and what’s in store? Neuroscience Letters, Volume 596, 2 June 2015, Pages 14-26, ISSN 0304-3940, http://dx.doi.org/10.1016/j.neulet.2015.01.059.
I intend to expand the current stub article by explaining the structure and function of PMP22 in the PNS, and how its gene alterations can lead to changes in gene dose or specifically how different neuropathies (such as Charcot–Marie–Tooth type 1A) are related to PMP22 gene alterations. I also want to expand and clarify how the PMP22 protein interacts with other proteins. I am planning on keeping the existing subheadings, but some possible additions include: PMP22 gene duplication and Gene Structure.
Sample Writing:
In the peripheral nervous system Schwann cells highly express PMP22, a transmembrane glycoprotein, which constitutes 2 to 5% of all proteins in compact myelin. PMP22 is 22kDa, made up of 160 amino acids, and is glycosylated in the endoplasmic reticulum, where it is also co-localised with the BiP chaperone. [1]
Current Article Summary:
- unclear function, a little about protein structure
- clinical significance, related to neuropathies such as Charcot–Marie–Tooth disease type IA, and Dejerine–Sottas disease
- interaction with myelin protein zero
PERIPHERAL MYELIN PROTEIN 22
Peripheral Myelin Protein 22 (PMP22) is a human
Like other membrane proteins, newly translated PMP22 protein is temporarily sequestered to the
Structure and Function
In humans, the PMP22 gene is located on
Although the PMP22 mechanism of action in myelinating Schwann cells is not fully known, it plays an essential role in the formation and maintenance of compact myelin
Gene-Dosage
Improper
References
- ^ a b c d e f g h i Watila, M. M., and S. A. Balarabe. Molecular and clinical features of inherited neuropathies due to PMP22 duplication. J Neurol Sci. 2015 Aug 15;355(1-2):18-24. doi: 10.1016/j.jns.2015.05.037. Cite error: The named reference "Watila" was defined multiple times with different content (see the help page).
- ^ a b c d Jun, L., Parker, B., Martyn, C., Natarajan, C., and J. Guo. The PMP22 gene and its related diseases. Mol Neurobiol. 2013. 47(2): 673-98.
- ^ Nelis, E., Haites, N., and C.V. Broeckhoven. Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies. Human Mutation. 1999 13(1):11-28.
- ^ Brennan, K. M., Bai, Y., and M. E. Shy. Demyelinating CMT–what’s known, what’s new and what’s in store? Neuroscience Letters. 2015 Jun 2; 596:14-26. http://dx.doi.org/10.1016/j.neulet.2015.01.059.
- ^ Al-Thihli, K., Rudkin, T., Carson, N., Poulin, C., Melançon, S., and V.M. Der Kaloustian. Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype. Am J Med Genet A. 2008 Sep 15;146A(18):2412-6. doi: 10.1002/ajmg.a.32456.
- ^ Berger, P., Young, P., and U. Suter. Molecular cell biology of Charcot-Marie-Tooth disease. Neurogenetics. 2002 Mar;4(1):1-15. Review.