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Preliminary outline for Missense Mutation

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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) (PMID 23302420, PMC 3567968)
  • And others. (We need to decide how many we are going to add under this example section.)

References/See Also

  • From the list of preliminary references below, as they are referring in the main article.

/Mhk5600 (talk) 20:47, 13 March 2013 (UTC)

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)

Preliminary preparations for editing Missense Mutation

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Initial References from Unit 5 for Missense Mutation

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New References

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  • Aspberg A (December 2012). "The different roles of aggrecan interaction domains". J. Histochem. Cytochem. 60 (12): 987–96. doi:10.1369/0022155412464376. PMC 3527881. PMID 23019016.{{cite journal}}: CS1 maint: date and year (link)
    • 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.
  • Mahdaviani SA, Hirbod-Mobarakeh A, Wang N; et al. (August 2012). "Novel mutation of the activation-induced cytidine deaminase gene in a Tajik family: special review on hyper-immunoglobulin M syndrome". Expert Rev Clin Immunol. 8 (6): 539–46. doi:10.1586/eci.12.46. PMID 22992148. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: date and year (link) CS1 maint: multiple names: authors list (link)
    • 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.
  • Dzamko N, Halliday GM (October 2012). "An emerging role for LRRK2 in the immune system". Biochem. Soc. Trans. 40 (5): 1134–9. doi:10.1042/BST20120119. PMID 22988878.{{cite journal}}: CS1 maint: date and year (link)
    • 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.
  • Greggio E (October 2012). "Role of LRRK2 kinase activity in the pathogenesis of Parkinson's disease". Biochem. Soc. Trans. 40 (5): 1058–62. doi:10.1042/BST20120054. PMID 22988865.{{cite journal}}: CS1 maint: date and year (link)
    • 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.
  • Mohajeri MH, Giese KP (August 2012). "Two selected models of missense mutations in mice for the study of learning behaviour". Brain Res. Bull. 88 (5): 429–33. doi:10.1016/j.brainresbull.2011.12.003. PMID 22214603.{{cite journal}}: CS1 maint: date and year (link)
    • 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.
  • Rashid BM, Rashid NG, Schulz A, Lahr G, Nore BF (2013). "A novel missense mutation in the CLCN7 gene linked to benign autosomal dominant osteopetrosis: a case series". J Med Case Rep. 7 (1): 7. doi:10.1186/1752-1947-7-7. PMC 3567968. PMID 23302420.{{cite journal}}: CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link)
    • 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.
  • Minde DP, Anvarian Z, Rüdiger SG, Maurice MM (2011). "Messing up disorder: how do missense mutations in the tumor suppressor protein APC lead to cancer?". Mol. Cancer. 10: 101. doi:10.1186/1476-4598-10-101. PMC 3170638. PMID 21859464.{{cite journal}}: CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link)

/Mhk5600 (talk) 16:28, 12 March 2013 (UTC)

Potential Suitably-Licensed Images

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Types of mutations 01
 
Types of mutations 01-fr
Amino-acid biochemical properties Nonpolar Polar Basic Acidic Termination: stop codon
Standard genetic code (NCBI table 1)[1]
1st
base
2nd base 3rd
base
U C A G
U UUU (Phe/F) Phenylalanine UCU (Ser/S) Serine UAU (Tyr/Y) Tyrosine UGU (Cys/C) Cysteine U
UUC UCC UAC UGC C
UUA (Leu/L) Leucine UCA UAA Stop (Ochre)[B] UGA Stop (Opal)[B] A
UUG[A] UCG UAG Stop (Amber)[B] UGG (Trp/W) Tryptophan G
C CUU CCU (Pro/P) Proline CAU (His/H) Histidine CGU (Arg/R) Arginine U
CUC CCC CAC CGC C
CUA CCA CAA (Gln/Q) Glutamine CGA A
CUG CCG CAG CGG G
A AUU (Ile/I) Isoleucine ACU (Thr/T) Threonine AAU (Asn/N) Asparagine AGU (Ser/S) Serine U
AUC ACC AAC AGC C
AUA ACA AAA (Lys/K) Lysine AGA (Arg/R) Arginine A
AUG[A] (Met/M) Methionine ACG AAG AGG G
G GUU (Val/V) Valine GCU (Ala/A) Alanine GAU (Asp/D) Aspartic acid GGU (Gly/G) Glycine U
GUC GCC GAC GGC C
GUA GCA GAA (Glu/E) Glutamic acid GGA A
GUG[A] GCG GAG GGG G
A Possible start codons in NCBI table 1. AUG is most common.[2] The two other start codons listed by table 1 (GUG and UUG) are rare in eukaryotes.[3] Prokaryotes have less strigent start codon requirements; they are described by NCBI table 11.
B ^ ^ ^ The historical basis for designating the stop codons as amber, ochre and opal is described in an autobiography by Sydney Brenner[4] and in a historical article by Bob Edgar.[5]
Inverse table for the standard genetic code (compressed using IUPAC notation)
Amino acid DNA codons Compressed Amino acid DNA codons Compressed
Ala, A GCU, GCC, GCA, GCG GCN Ile, I AUU, AUC, AUA AUH
Arg, R CGU, CGC, CGA, CGG; AGA, AGG CGN, AGR; or
CGY, MGR
Leu, L CUU, CUC, CUA, CUG; UUA, UUG CUN, UUR; or
CUY, YUR
Asn, N AAU, AAC AAY Lys, K AAA, AAG AAR
Asp, D GAU, GAC GAY Met, M AUG
Asn or Asp, B AAU, AAC; GAU, GAC RAY Phe, F UUU, UUC UUY
Cys, C UGU, UGC UGY Pro, P CCU, CCC, CCA, CCG CCN
Gln, Q CAA, CAG CAR Ser, S UCU, UCC, UCA, UCG; AGU, AGC UCN, AGY
Glu, E GAA, GAG GAR Thr, T ACU, ACC, ACA, ACG ACN
Gln or Glu, Z CAA, CAG; GAA, GAG SAR Trp, W UGG
Gly, G GGU, GGC, GGA, GGG GGN Tyr, Y UAU, UAC UAY
His, H CAU, CAC CAY Val, V GUU, GUC, GUA, GUG GUN
START AUG, CUG, UUG HUG STOP UAA, UGA, UAG URA, UAR
  • Appending potential images coming.../Mhk5600 (talk) 14:53, 12 March 2013 (UTC)

Inline Citation Practice (Unit 5 Assignment)

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Pubmed Article #1

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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.[6]

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.[6] 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.[6] 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.[6]

Pubmed Article #2

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The title of my second PubMed article is: MCAK activity at microtubule tips regulates spindle microtubule length to promote robust kinetochore attachment.[7]

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.[7] 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.[7] It turned out that when cells were lacking MCAK, the spindle fibers that were made had “excessively” long microtubules that were not kinetochore related.[7]

Notes

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  1. ^ Elzanowski A, Ostell J (7 January 2019). "The Genetic Codes". National Center for Biotechnology Information. Archived from the original on 5 October 2020. Retrieved 21 February 2019.
  2. ^ Nakamoto T (March 2009). "Evolution and the universality of the mechanism of initiation of protein synthesis". Gene. 432 (1–2): 1–6. doi:10.1016/j.gene.2008.11.001. PMID 19056476.
  3. ^ Asano, K (2014). "Why is start codon selection so precise in eukaryotes?". Translation (Austin, Tex.). 2 (1): e28387. doi:10.4161/trla.28387. PMID 26779403.
  4. ^ Brenner S. A Life in Science (2001) Published by Biomed Central Limited ISBN 0-9540278-0-9 see pages 101-104
  5. ^ Edgar B (2004). "The genome of bacteriophage T4: an archeological dig". Genetics. 168 (2): 575–82. PMC 1448817. PMID 15514035. see pages 580-581
  6. ^ a b c d Tóth DJ, Tóth JT, Gulyás G; et al. (May 2012). "Acute depletion of plasma membrane phosphatidylinositol 4,5-bisphosphate impairs specific steps in endocytosis of the G-protein-coupled receptor". J. Cell. Sci. 125 (Pt 9): 2185–97. doi:10.1242/jcs.097279. PMC 3367940. PMID 22357943. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: date and year (link) CS1 maint: multiple names: authors list (link)
  7. ^ a b c d Domnitz SB, Wagenbach M, Decarreau J, Wordeman L (April 2012). "MCAK activity at microtubule tips regulates spindle microtubule length to promote robust kinetochore attachment". J. Cell Biol. 197 (2): 231–7. doi:10.1083/jcb.201108147. PMC 3328376. PMID 22492725.{{cite journal}}: CS1 maint: date and year (link) CS1 maint: multiple names: authors list (link)