Sandbox GGC1: Difference between revisions
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== Disease == | == Disease == | ||
There have been studies that have identified mutations encoding a K27M substitution and there have also been mutations that encoded | There have been studies that have identified mutations encoding a K27M substitution and there have also been mutations that encoded | ||
GLY 34 to ARG or VAL called the G34R/V substitution. There are mutations in H3.3 that are found in different types of bone tumors like [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4446520/ chrondroblastoma] for example and giant cell tumors of the bone. [https://cancerdiscovery.aacrjournals.org/content/3/12/1329.1 Chondroblastoma] arises in children and in young adults in the cartilage of the growth plates of the long bones and is most typically benign. | GLY 34 to ARG or VAL called the G34R/V substitution. K27M tumors are present in ex: spinal cord, thalamus, pons, brainstem and G34R/V tumors are shown in the cerebral hemispheres. There are mutations in H3.3 that are found in different types of bone tumors like [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4446520/ chrondroblastoma] for example and giant cell tumors of the bone. [https://cancerdiscovery.aacrjournals.org/content/3/12/1329.1 Chondroblastoma]arises in children and in young adults in the cartilage of the growth plates of the long bones and is most typically benign. | ||
[[Image:Glioma_2018_1_4_117_240231_f1.jpg]] | [[Image:Glioma_2018_1_4_117_240231_f1.jpg]] | ||
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Histone octamer containing two of H2A, H2B, H3 and H4 and the octamer wraps 147bp of DNA. H3.3 interacts with HIRA which is a chaperone and ZMYND11 when trimethylated at <scene name='75/752263/3wtp/2'>Lysine-36</scene> | Histone octamer containing two of H2A, H2B, H3 and H4 and the octamer wraps 147bp of DNA. H3.3 interacts with HIRA which is a chaperone and ZMYND11 when trimethylated at <scene name='75/752263/3wtp/2'>Lysine-36</scene> | ||
== Structural highlights == | == Structural highlights == | ||
[https://www.nature.com/articles/srep07115 CENP-A]is a centromere specific variant of Histone H3 and it's controlled in normal cells and its chromosome localization is heavily restricted in the centromere regions. It can be over expressed in cancer cells and also be mislocalized ectopically in the form of heterotypic nucleosomes containing H3.3. | |||
<scene name='75/752263/Arg_49/1'>ARG 49</scene> | <scene name='75/752263/Arg_49/1'>ARG 49</scene> | ||
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2. Cancer Discovery Science Writers. Histone H3.3 Mutations Are Cancer Type-Specific. https://cancerdiscovery.aacrjournals.org/content/3/12/1329.1 (accessed Nov 14, 2020). | 2. Cancer Discovery Science Writers. Histone H3.3 Mutations Are Cancer Type-Specific. https://cancerdiscovery.aacrjournals.org/content/3/12/1329.1 (accessed Nov 14, 2020). | ||
3. | 3. Gianno, F.; Antonelli, M.; Ferretti2018, E.; Massimino, M.; Arcella, A.; Giangaspero, F. Pediatric high-grade glioma: A heterogeneous group of neoplasms with different molecular drivers. https://www.jglioma.com/viewimage.asp?img=Glioma_2018_1_4_117_240231_f1.jpg (accessed Nov 16, 2020). | ||
4. UniProt ConsortiumEuropean Bioinformatics InstituteProtein Information ResourceSIB Swiss Institute of Bioinformatics. Histone H3.3. https://www.uniprot.org/uniprot/P84243 (accessed Nov 1, 2020). | 4. Kallappagoudar, S.; Yadav, R. K.; Lowe, B. R.; Partridge, J. F. Histone H3 mutations--a special role for H3.3 in tumorigenesis? https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4446520/ (accessed Nov 1, 2020). | ||
5. Morell, N.; Rajani, R. Chondroblastoma - OrthoInfo - AAOS. https://orthoinfo.aaos.org/en/diseases--conditions/chondroblastoma (accessed Nov 16, 2020). | |||
6. UniProt ConsortiumEuropean Bioinformatics InstituteProtein Information ResourceSIB Swiss Institute of Bioinformatics. Histone H3.3. https://www.uniprot.org/uniprot/P84243 (accessed Nov 1, 2020). | |||
7.Yuen, B. T. K.; Knoepfler, P. S. Histone H3.3 mutations: a variant path to cancer. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3882088/ (accessed Nov 16, 2020). | |||