Biology:HOXC13
 Generic protein structure example |
Homeobox protein Hox-C13 is a protein that in humans is encoded by the HOXC13 gene.[1][2][3]
Structure
This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12.[3]
HOXC13 is positioned toward the 5' end of the HOXC cluster.
Function
The product of this gene may play a role in the development of hair, nail, and filiform papilla.[3]
HOX gene expression follows a principle called collinearity]: genes at the 3' end are expressed earlier and more anteriorly, while those at the 5' end are expressed in more posterior or distal structures.[4] As a result, the HOXC13 gene is primarily involved in the development and differentiation of ectodermal structures rather than early axial patterning.
Clinical significance
Mutations in HOXC13 can lead to disruptions in the transcription factors the gene is associated with, particularly being linked to Pure hair-nail type ectodermal dysplasia.[5] Research suggests that disruptions in mRNA decay are the root cause of a failure to properly develop hair follicles, nails, sebaceous glands, and other ectodermal structures. These effects are a result of a nonsense mutation in HOXC13 that codes for a protein without a C-terminal homeodomain and undergoes total loss-of-function. The mutation has no effects on any other organ systems and is limited to ectodermal structures.[5]
See also
References
- ↑ "Nomenclature for human homeobox genes". Genomics 7 (3): 460. July 1990. doi:10.1016/0888-7543(90)90186-X. PMID 1973146.
- ↑ "Vertebrate homeobox gene nomenclature". Cell 71 (4): 551–553. November 1992. doi:10.1016/0092-8674(92)90588-4. PMID 1358459.
- ↑ 3.0 3.1 3.2 "Entrez Gene: HOXC13 homeobox C13". https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=3229.
- ↑ "The significance of Hox gene collinearity". The International Journal of Developmental Biology 59 (4–6): 159–170. 2015. doi:10.1387/ijdb.150223sg. PMID 26260684.
- ↑ 5.0 5.1 "Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia". American Journal of Human Genetics 91 (5): 906–911. November 2012. doi:10.1016/j.ajhg.2012.08.029. PMID 23063621.
Further reading
- "Hair defects in Hoxc13 mutant mice". The Journal of Investigative Dermatology. Symposium Proceedings 4 (3): 244–247. December 1999. doi:10.1038/sj.jidsp.5640221. PMID 10674376.
- "Fusion of the NUP98 gene and the homeobox gene HOXC13 in acute myeloid leukemia with t(11;12)(p15;q13)". Genes, Chromosomes & Cancer 36 (1): 107–112. January 2003. doi:10.1002/gcc.10139. PMID 12461755.
- "The human HOX gene family". Nucleic Acids Research 17 (24): 10385–10402. December 1989. doi:10.1093/nar/17.24.10385. PMID 2574852.
- "Cognate homeo-box loci mapped on homologous human and mouse chromosomes". Proceedings of the National Academy of Sciences of the United States of America 83 (23): 9104–9108. December 1986. doi:10.1073/pnas.83.23.9104. PMID 2878432. Bibcode: 1986PNAS...83.9104R.
- "Fine mapping of human HOX gene clusters". Cytogenetics and Cell Genetics 73 (1–2): 114–115. 1996. doi:10.1159/000134320. PMID 8646877.
- "Distinct patterns of all-trans retinoic acid dependent expression of HOXB and HOXC homeogenes in human embryonal and small-cell lung carcinoma cell lines". FEBS Letters 415 (3): 263–267. October 1997. doi:10.1016/S0014-5793(97)01118-6. PMID 9357979. Bibcode: 1997FEBSL.415..263F.
- "Selection of homeotic proteins for binding to a human DNA replication origin". Journal of Molecular Biology 299 (3): 667–680. June 2000. doi:10.1006/jmbi.2000.3782. PMID 10835276.
- "Inhibition of Bmp signaling affects growth and differentiation in the anagen hair follicle". The EMBO Journal 19 (24): 6664–6674. December 2000. doi:10.1093/emboj/19.24.6664. PMID 11118201.
- "Complete mutation analysis panel of the 39 human HOX genes". Teratology 65 (2): 50–62. February 2002. doi:10.1002/tera.10009. PMID 11857506.
- "Krtap16, characterization of a new hair keratin-associated protein (KAP) gene complex on mouse chromosome 16 and evidence for regulation by Hoxc13". The Journal of Biological Chemistry 279 (49): 51524–51533. December 2004. doi:10.1074/jbc.M404331200. PMID 15385554.
External links
- HOXC13+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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