Sandbox GGC1: Difference between revisions
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'''Histone H3.3''' | '''Histone H3.3''' | ||
== Introduction == | |||
Histone H3.3 is a variant histone of H3 which has the gene name H3.3A and this particular protein is found in Humans. the location of this can be found in the nucleus and in the chromosome. | |||
== Function == | == Function == | ||
[https://www.uniprot.org/uniprot/P84243 Histone H3] replaces H3 in a range of nucleosomes in active genes and it takes over the original H3 in non dividing cells. Nucleosomes wrap around and compact DNA into chromatin which limits DNA access to cellular machineries which need DNA as a template. Histones play an important role in regulation of transcription, DNA repair, DNA replication and also chromosomal stability. Access to DNA is regulated by post-translational modifications of histones which is called a histone code, and nucleosome remodeling. It also serves as a replacement histone that's imbedded chromatin regions by the HIRA chaperone, after the depletion of the H3.1 during transcription and DNA repair. | [https://www.uniprot.org/uniprot/P84243 Histone H3] replaces H3 in a range of nucleosomes in active genes and it takes over the original H3 in non dividing cells. Nucleosomes wrap around and compact DNA into chromatin which limits DNA access to cellular machineries which need DNA as a template. Histones play an important role in regulation of transcription, DNA repair, DNA replication and also chromosomal stability. Access to DNA is regulated by post-translational modifications of histones which is called a histone code, and nucleosome remodeling. It also serves as a replacement histone that's imbedded chromatin regions by the HIRA chaperone, after the depletion of the H3.1 during transcription and DNA repair. | ||
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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. 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. | 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. | ||
Glioma is another disease caused by the H3F3A mutation, however they are benign or either malignant central nervous system of abnormal growth of tissue from glial cells. | |||
[[Image:Glioma_2018_1_4_117_240231_f1.jpg]] | [[Image:Glioma_2018_1_4_117_240231_f1.jpg]] | ||