Histone H3.3 is a protein that in humans is encoded by the H3-3A, and the H3-3B genes.[5][6]
Function
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.
Gene
This gene contains introns and its mRNA is polyadenylated, unlike most histone genes. The protein encoded is a member of the histone H3 family. Unlike most histone genes, H3F3B is not located in a cluster, but rather is isolated in the telomeric region of chromosome 17.[7]
Clinical significance
Somatic mutations mostly in the H3F3B gene are associated with chondroblastoma,[8] but some are associated with mutations in H3F3A.[5] A rare de novo germline mutation of the H3F3B gene (A30P) has been linked to a syndrome with a range of developmental and behavioral abnormalities including microcephaly, mild strabismus, seizure disorder, autistic continuum, hypothyroidism, global developmental delay, and low muscle tone.[9]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000132475 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000060743 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "H3-3A - Histone H3.3 - Homo sapiens (Human) - H3-3A gene & protein". www.uniprot.org. Retrieved 30 May 2022.
- ^ "Entrez Gene: H3 histone, family 3B (H3.3B)". Retrieved 2013-05-30.
- ^ Albig W, Bramlage B, Gruber K, Klobeck HG, Kunz J, Doenecke D (Nov 1995). "The human replacement histone H3.3B gene (H3F3B)". Genomics. 30 (2): 264–72. doi:10.1006/geno.1995.9878. PMID 8586426.
- ^ Behjati S, Tarpey PS, Presneau N, Scheipl S, Pillay N, Van Loo P, Wedge DC, Cooke SL, Gundem G, Davies H, Nik-Zainal S, Martin S, McLaren S, Goody V, Goodie V, Robinson B, Butler A, Teague JW, Halai D, Khatri B, Myklebost O, Baumhoer D, Jundt G, Hamoudi R, Tirabosco R, Amary MF, Futreal PA, Stratton MR, Campbell PJ, Flanagan AM (Dec 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.
- ^ "H3F3B De novo mutations of H3F3B". Archived from the original on 2016-03-04. Retrieved 2015-10-09.
External links
- "H3F3B De novo mutations of H3F3B". Archived from the original on 2016-03-04. Retrieved 2015-10-09. – An ongoing effort to link individuals with H3F3B genetic mutations with researchers who are currently studying this condition.
This page was last edited on 10 March 2024, at 01:20