User:Bcheon1/sandbox

Hello and welcome to my sandbox!

Preliminary outline for Missense Mutation
A definition and general explanation of missense mutation.

Examples of possible mutations that are caused by altering the genetic code:
 * Nonsense mutation
 * Frameshift mutation
 * Neutral mutation (This topic comes from Mutation)
 * Silent mutation (This topic comes from Mutation)

Relationships with suppressors and other mutations:
 * Intragenic suppression with Missense mutation
 * Intergenic suppression

Missense mutation with a related genetic code table (the focused is on mammals).
 * (Please refer to Figure #15-6 in the Watson et al. textbook, page 537)

Examples of genetic diseases resulting from missense mutations (and perhaps possible therapies):
 * Sickle-cell Anemia
 * SOD1(Superoxide dismutase) mediated ALS(Amyotrophic Lateral Sclerosis)
 * Osteopetrosis (Inherited genetic disease that linked to CLCN7 gene)
 * And others. (We need to decide how many we are going to add under this example section.)

References/See Also /Mhk5600 (talk) 20:47, 13 March 2013 (UTC)
 * From the list of preliminary references below, as they are referring in the main article.
 * Hey Min, I didn't change much of the content but I made some small edits to clean up typographical errors as well as the language. Bcheon1 (talk) 21:56, 13 March 2013 (UTC)

New References
/Mhk5600 (talk) 16:28, 12 March 2013 (UTC)
 * This review describes different missense mutations in the aggrecan C-type lectin repeat.
 * These mutations are known to lead to two different human hereditary disorders: autosomal recessive aggrecan-type spondyloepimetaphyseal dysplasia and autosomal dominant familial osteochondritis dissecans.
 * This reference would be useful for describing other possible health effects resulting from this mutation.
 * This paper describes a novel missense mutation that was found in one of the genes of two individuals with hyper-immunoglobulin M (HIGM) syndrome.
 * This is another example of a missense mutation resulting in a disease.
 * This review article shows how missense mutations in LRRK2 (leucine-rich repeat kinase 2) contribute to autosomal dominant Parkinson's disease.
 * This is like the above two but Parkinson's disease is more well known and probably more relevant.
 * This is another review talking about missense mutations in LRRK2.
 * LRRK2 seems to get quite a bit of focus because of it's connection to Parkinson's disease so this may make a good topic in our article.
 * This review talks about the impacts of missense mutations on learning and memory in mice.
 * The review then talks about how this relates to humans.
 * This might be a good example of how small missense mutations can result in changes in phenotype.
 * Inherited genetic disease caused by missense mutation.
 * The missense mutation (CGG>TGG) located in exon 15 (c.1225C>T) of the Chloride Channel 7 gene changed the amino acid position 409 from arginine to tryptophan.
 * Mutated gene may be a dominant-negative impact on the protein.
 * Listed reference articles from a current missense mutation
 * This might be a good example of how small missense mutations can result in changes in phenotype.
 * Inherited genetic disease caused by missense mutation.
 * The missense mutation (CGG>TGG) located in exon 15 (c.1225C>T) of the Chloride Channel 7 gene changed the amino acid position 409 from arginine to tryptophan.
 * Mutated gene may be a dominant-negative impact on the protein.
 * Listed reference articles from a current missense mutation
 * Listed reference articles from a current missense mutation
 * Listed reference articles from a current missense mutation

Potential Suitably-Licensed Images



 * Appending potential images coming.../Mhk5600 (talk) 14:53, 12 March 2013 (UTC)

Pubmed Article #1
The title of my first PubMed article is: Acute depletion of plasma membrane phosphatidylinositol 4,5-bisphosphate impairs specific steps in endocytosis of the G-protein-coupled receptor.

The primary goals were to investigate the role and importance of Phosphatidylinositol 4,5-bisphosphate [PtdIns(4,5)P(2)] in the plasma membrane on the endocytic process of GPCRs and to determine whether depleting PtdIns(4,5)P(2) would disrupt this process. Three different GPCRs were studied including: luciferase-labeled type 1 angiotensin II (AT1R), type 2C serotonin (5HT2CR) and β(2) adrenergic (β2AR) receptors. The authors found that when they depleted PtdIns(4,5)P(2), there was generally a significant inhibition in the number of GPCRs in early endosomes. This study confirmed that GPCRs rely on PtdIns(4,5)P(2) in their endocytic pathways. Delivery of one of the GPCRs to early endosomes for example was completely stopped when PtdIns(4,5)P(2) was depleted.

Pubmed Article #2
The title of my second PubMed article is: MCAK activity at microtubule tips regulates spindle microtubule length to promote robust kinetochore attachment.

The main goal of this study was to see if MCAK’s (mitotic centromere-associated kinesin) effect on dynamic microtubule plus ends is the reason shorter spindles are observed during meiotic spindle assembly when MCAK levels are raised. The authors tested this in human mitotic cells by depleting MCAK levels using siRNA and then observing the spindle assembly in the cells. The authors found that the tip-tracking activity for MCAK was played an important role in stopping the centrosomes from separating when bipolar spindles were being assembled. The significance of this was clarified when the authors also monitored kinetochore attachment. It turned out that when cells were lacking MCAK, the spindle fibers that were made had “excessively” long microtubules that were not kinetochore related.