H3F3B

{{Short description|Protein-coding gene in the species Homo sapiens}} {{Infobox_gene}} '''Histone H3.3''' is a protein that in humans is encoded by the ''H3-3A'', and the ''H3-3B'' genes.<ref name="uniprot">{{cite web |title=H3-3A - Histone H3.3 - Homo sapiens (Human) - H3-3A gene & protein |url=https://www.uniprot.org/uniprot/P84243 |website=www.uniprot.org |access-date=30 May 2022}}</ref><ref name="entrez">{{cite web | title = Entrez Gene: H3 histone, family 3B (H3.3B) | url = https://www.ncbi.nlm.nih.gov/gene?db=gene&cmd=retrieve&list_uids=3021 | access-date = 2013-05-30  }}</ref>

== 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.<ref name="PMID8586426">{{cite journal | vauthors = Albig W, Bramlage B, Gruber K, Klobeck HG, Kunz J, Doenecke D | title = The human replacement histone H3.3B gene (H3F3B) | journal = Genomics | volume = 30 | issue = 2 | pages = 264–72 | date = Nov 1995 | pmid = 8586426 | doi = 10.1006/geno.1995.9878 }}</ref>

== Clinical significance ==

Somatic mutations mostly in the ''H3F3B'' gene are associated with chondroblastoma,<ref name="pmid24162739">{{cite journal | vauthors = 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 | title = Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone | journal = Nature Genetics | volume = 45 | issue = 12 | pages = 1479–82 | date = Dec 2013 | pmid = 24162739 | pmc = 3839851 | doi = 10.1038/ng.2814 }}</ref> but some are associated with mutations in ''H3F3A''.<ref name="uniprot"/> 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.<ref name="h3f3b">{{cite web | title = H3F3B De novo mutations of H3F3B | url = http://www.h3f3b.org/ | access-date = 2015-10-09 | archive-date = 2016-03-04 | archive-url = https://web.archive.org/web/20160304212627/http://www.h3f3b.org/ | url-status = dead }}</ref>

== References == {{reflist}}

== External links == * {{cite web | title = H3F3B De novo mutations of H3F3B | url = http://www.h3f3b.org/ | access-date = 2015-10-09 | archive-date = 2016-03-04 | archive-url = https://web.archive.org/web/20160304212627/http://www.h3f3b.org/ | url-status = dead }} – An ongoing effort to link individuals with H3F3B genetic mutations with researchers who are currently studying this condition.