H3F3B (gene): Difference between revisions
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== References == |
== References == |
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== External links == |
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* {{cite web | title = H3F3B De novo mutations of H3F3B | url = http://www.h3f3b.org }} – An ongoing effort to link individuals with H3F3B genetic mutations with researchers who are currently studying this condition. |
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Revision as of 11:44, 17 October 2015
Template:PBB H3 histone, family 3B (H3.3B) is a protein in humans that is encoded by the H3F3B gene.[1]
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 poyadenylated, 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.[2]
Clinical significance
Somatic mutations in the H3F3B gene are associated with chondroblastoma.[3] 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.[4]
References
- ^ "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".
External links
- "H3F3B De novo mutations of H3F3B". – An ongoing effort to link individuals with H3F3B genetic mutations with researchers who are currently studying this condition.