| HORMAD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | HORMAD1, CT46, NOHMA, HORMA domain containing 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 609824 MGI: 1915231 HomoloGene: 69415 GeneCards: HORMAD1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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HORMA domain-containing protein 1 (HORMAD1) also known as cancer/testis antigen 46 (CT46) is a protein that in humans is encoded by the HORMAD1 gene.[5][6][7]
Function
HORMAD1 is a cancer/testis antigen that plays a key role in meiotic progression.[6] It has shown to regulate 3 different functions during meiosis. Specifically, it:
- Ensures that sufficient numbers of processed DNA double-strand breaks (DSBs) are available for successful homology search by increasing the steady-state numbers of single-stranded DSB ends
- Promotes synaptonemal-complex formation independently of its role in homology search.
- Plays a key role in the male mid-pachytene checkpoint and the female meiotic prophase checkpoint: required for efficient build-up of ATR activity on unsynapsed chromosome regions, a process believed to form the basis of meiotic silencing of unsynapsed chromatin (MSUC) and meiotic prophase quality control in both sexes (By similarity) [8]
Role in cancer
HORMAD1 has been shown to have a role in Triple-Negative Breast Cancers [9] and in Lung Adenocarcinomas.[10] In particular, the Watkins et al., paper suggested that overexpression of HORMAD1 is a driver of homologous recombination repair deficiency in these types of breast cancers, and induced widespread allelic imbalances in the genome with implications for platinum and PARP inhibitor sensitivity.
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000143452 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000028109 - 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.
- ↑ Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, et al. (March 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
- 1 2 Chen YT, Venditti CA, Theiler G, Stevenson BJ, Iseli C, Gure AO, et al. (July 2005). "Identification of CT46/HORMAD1, an immunogenic cancer/testis antigen encoding a putative meiosis-related protein". Cancer Immunity. 5: 9. PMID 15999985.
- ↑ "Entrez Gene: HORMAD1 HORMA domain containing 1".
- ↑ Shin YH, Choi Y, Erdin SU, Yatsenko SA, Kloc M, Yang F, et al. (November 2010). "Hormad1 mutation disrupts synaptonemal complex formation, recombination, and chromosome segregation in mammalian meiosis". PLOS Genetics. 6 (11): e1001190. doi:10.1371/journal.pgen.1001190. PMC 2973818. PMID 21079677.
- ↑ Watkins J, Weekes D, Shah V, Gazinska P, Joshi S, Sidhu B, et al. (May 2015). "Genomic Complexity Profiling Reveals That HORMAD1 Overexpression Contributes to Homologous Recombination Deficiency in Triple-Negative Breast Cancers". Cancer Discovery. 5 (5): 488–505. doi:10.1158/2159-8290.CD-14-1092. PMC 4490184. PMID 25770156.
- ↑ Gao Y, Kardos J, Yang Y, Tamir TY, Mutter-Rottmayer E, Weissman B, et al. (October 2018). "The Cancer/Testes (CT) Antigen HORMAD1 promotes Homologous Recombinational DNA Repair and Radioresistance in Lung adenocarcinoma cells". Scientific Reports. 8 (1): 15304. Bibcode:2018NatSR...815304G. doi:10.1038/s41598-018-33601-w. PMC 6192992. PMID 30333500.
Further reading
- Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, et al. (January 2006). "The LIFEdb database in 2006". Nucleic Acids Research. 34 (Database issue): D415-8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.
- Pangas SA, Yan W, Matzuk MM, Rajkovic A (December 2004). "Restricted germ cell expression of a gene encoding a novel mammalian HORMA domain-containing protein". Gene Expression Patterns. 5 (2): 257–63. doi:10.1016/j.modgep.2004.07.008. PMID 15567723.
- Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, et al. (October 2004). "From ORFeome to biology: a functional genomics pipeline". Genome Research. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
- Simpson JC, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S (September 2000). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Reports. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.
- Hartley JL, Temple GF, Brasch MA (November 2000). "DNA cloning using in vitro site-specific recombination". Genome Research. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
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