H3F3A

From WikiProjectMed
Jump to navigation Jump to search
H3-3A
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesH3-3A, H3.3A, H3F3, H3 histone, family 3A, H3 histone family member 3A, H3.3 histone A, H3F3A, H3-3B
External IDsOMIM: 601128 MGI: 1097686 HomoloGene: 134170 GeneCards: H3-3A
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_002107

NM_008210

RefSeq (protein)

NP_005315

NP_032236
NP_032237

Location (UCSC)Chr 1: 226.06 – 226.07 MbChr 1: 180.63 – 180.64 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Histone H3.3 is a protein that in humans is encoded by the H3F3A and H3F3B genes.[5] It plays an essential role in maintaining genome integrity during mammalian development.[6]

Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene contains introns and its mRNA is polyadenylated, unlike most histone genes. The protein encoded is a replication-independent member of the histone H3 family.[7]

Mutation of H3F3A are also linked to certain cancers. p.Lys27Met were discovered in Diffuse Intrinsic Pontine Glioma (DIPG),[8] where they are present 65-75% of tumors and confer a worse prognosis.[9] p.Lys27Met alterations in HIST1H3B and HIST1H3C, which code for histone H3.1 have also been reported in ~10% of DIPG.[10] H3F3A is also mutated in a smaller portion of pediatric and young adult high grade astrocytomas but more frequently as p.Gly34Arg/Val. Mutations in H3F3A and H3F3B are also found in chondroblastoma and giant cell tumor of bone.[11]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000163041 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000060743 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Wells D, Hoffman D, Kedes L (April 1987). "Unusual structure, evolutionary conservation of non-coding sequences and numerous pseudogenes characterize the human H3.3 histone multigene family". Nucleic Acids Research. 15 (7): 2871–89. doi:10.1093/nar/15.7.2871. PMC 340704. PMID 3031613.
  6. ^ Jang CW, Shibata Y, Starmer J, Yee D, Magnuson T (July 2015). "Histone H3.3 maintains genome integrity during mammalian development". Genes & Development. 29 (13): 1377–92. doi:10.1101/gad.264150.115. PMC 4511213. PMID 26159997.
  7. ^ "Entrez Gene: H3F3A H3 histone, family 3A".
  8. ^ Wu G, Broniscer A, McEachron TA, Lu C, Paugh BS, Becksfort J, et al. (January 2012). "Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas". Nature Genetics. 44 (3): 251–3. doi:10.1038/ng.1102. PMC 3288377. PMID 22286216.
  9. ^ Khuong-Quang DA, Buczkowicz P, Rakopoulos P, Liu XY, Fontebasso AM, Bouffet E, et al. (September 2012). "K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas". Acta Neuropathologica. 124 (3): 439–47. doi:10.1007/s00401-012-0998-0. PMC 3422615. PMID 22661320.
  10. ^ Buczkowicz P, Hoeman C, Rakopoulos P, Pajovic S, Letourneau L, Dzamba M, et al. (May 2014). "Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations". Nature Genetics. 46 (5): 451–6. doi:10.1038/ng.2936. PMC 3997489. PMID 24705254.
  11. ^ Behjati S, Tarpey PS, Presneau N, Scheipl S, Pillay N, Van Loo P, et al. (December 2013). "Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone". Nature Genetics. 45 (12): 1479–82. doi:10.1038/ng.2814. PMC 3839851. PMID 24162739.

Further reading