Alternative titles; symbols
HGNC Approved Gene Symbol: H3C14
Cytogenetic location: 1q21.2 Genomic coordinates (GRCh38): 1:149,840,687-149,841,208 (from NCBI)
For background information on histones, histone gene clusters, and the H3 histone family, see HIST1H3A (602810).
By genomic sequence analysis, Marzluff et al. (2002) identified the human HIST2H3C gene. The protein encoded by HIST2H3C, designated H3.2, differs from H3.1, which is encoded by multiple H3 genes (see 602810), at only 1 residue, and from histone H3.3, which is encoded by both H3F3A (601128) and H3F3B (601058), at a few residues.
Using Northern blot analysis, Frank et al. (2003) assayed for expression of the replacement histones H3.3A (H3F3A) and H3.3B (H3F3B) and the cell cycle-dependent histone H3/m in human tissues and cell lines. All 6 cell lines expressed H3.3A, H3.3B, and H3/m at high levels. Conversely, fetal liver predominantly expressed H3/m, likely due to its rapid cell growth, whereas adult liver, kidney, and heart predominantly expressed H3.3A and H3.3B. The H3/m transcript was detected at 0.6 kb.
By study of mouse-human cell hybrids and by in situ hybridization, Green et al. (1984) showed that H3 and H4 histone genes are on chromosome 1q, probably 1q21. The nomenclature committee of the Human Gene Mapping Workshops designated the histone genes on chromosome 1q21 as H3 histone, family 2, and H4 histone, family 2 (HIST2H4A; 142750) (McAlpine, 1989).
By genomic sequence analysis, Marzluff et al. (2002) determined that the histone gene cluster on chromosome 1q21, which they called histone gene cluster-2 (HIST2), contains 6 histone genes, including HIST2H3C. The cluster also contains 2 H3 pseudogenes, designated HIST2H3A and HIST2H3B.
See HIST1H3A (602810) for functional information on the H3 histone family.
H3.2 Histone
Hake et al. (2006) noted that most studies on expression or posttranslational modifications of H3 histones do not differentiate between the H3.1, H3.2, and H3.3 proteins, in part due to their high degree of amino acid identity. By quantitative PCR of 5 human cell lines, they found that the 9 H3.1 genes, 1 H3.2 gene, and 2 H3.3 genes examined were expressed in a cell line-specific manner. All 3 types of H3 genes were highly expressed during S phase in human cell lines, whereas the H3.3 genes were also highly expressed outside of S phase, consistent with their status as replication-independent genes. Using a combination of isotopic labeling and quantitative tandem mass spectrometry, Hake et al. (2006) showed that the H3.1, H3.2, and H3.3 proteins differed in their posttranslational modifications. H3.1 was enriched in marks associated with both gene activation and gene silencing, H3.2 was enriched in repressive marks associated with gene silencing and the formation of facultative heterochromatin, and H3.3 was enriched in marks associated with transcriptional activation. Hake et al. (2006) concluded that H3.1, H3.2, and H3.3 likely have unique functions and should not be treated as equivalent proteins.
Frank, D., Doenecke, D., Albig, W. Differential expression of human replacement and cell cycle dependent H3 histone genes. Gene 312: 135-143, 2003. [PubMed: 12909349] [Full Text: https://doi.org/10.1016/s0378-1119(03)00609-7]
Green, L., Van Antwerpen, R., Stein, J., Stein, G., Tripputi, P., Emanuel, B., Selden, J., Croce, C. A major human histone gene cluster on the long arm of chromosome 1. Science 226: 838-840, 1984. [PubMed: 6494913] [Full Text: https://doi.org/10.1126/science.6494913]
Hake, S. B., Garcia, B. A., Duncan, E. M., Kauer, M., Dellaire, G., Shabanowitz, J., Bazett-Jones, D. P., Allis, C. D., Hunt, D. F. Expression patterns and post-translational modifications associated with mammalian histone H3 variants. J. Biol. Chem. 281: 559-568, 2006. [PubMed: 16267050] [Full Text: https://doi.org/10.1074/jbc.M509266200]
Marzluff, W. F., Gongidi, P., Woods, K. R., Jin, J., Maltais, L. J. The human and mouse replication-dependent histone genes. Genomics 80: 487-498, 2002. [PubMed: 12408966]
McAlpine, P. J. Personal Communication. Winnipeg, Manitoba, Canada 1989.