Biology:CYLD (gene)

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Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

The CYLD lysine 63 deubiquitinase gene, also termed the CYLD gene,[1] CYLD is an evolutionary ancient gene found to be present as far back on the evolutionary scale as in sponges.[2] In humans, this gene is located in band 12.1 on the long (or "q") arm of chromosome 16[3] and is known to code (i.e. direct the production of) multiple proteins through the process of alternative splicing.[4]

The CYLD gene in known to code for a cytoplasmic protein, termed CYLD lysine 63 deubiquitinase (here termed CYLD protein), which has three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains (areas or the protein controlling critical functions[5]). CYLD protein is a deubiquitinating enzyme, i.e. a protease that removes ubiquitin from certain proteins and thereby regulates these proteins' activities. CYLD protein removes ubiquitin from proteins involved in regulating the NF-κB, Wnt, notch, TGF-β,[6] and JNK[7] cell signaling pathways; these pathways normally act to regulate hair formation, cell growth, cell survival, inflammatory responses, and/or tumor development.[6][7]

The CYLD gene is classified as a tumor suppressor gene, i.e. a gene that regulates cell growth and when inactivated by a mutation leads to uncontrolled cell growth and the formation of tumors.[8] Inactivating mutations in this gene occur in essentially all cases of the CYLD cutaneous syndrome, a hereditary disorder in which individuals develop multiple skin tumors. The CYLD cutaneous syndrome includes three somewhat different forms of the disease: the multiple familial trichoepithelioma-type, Brooke–Spiegler syndrome-type, and familial cylindromatosis-type.[6] CYLD gene mutations are also associated with T-Cell Acute Lymphoblastic Leukemia,[8] multiple myeloma, hepatocellular carcinoma, neuroblastoma, pancreatic cancer,[9] uterine cancer, stomach cancer, colon cancer, lung cancer, and human papillomavirus-associated cancers.[7]

References

  1. ↑ "Symbol report for CYLD". https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/2584. Retrieved 20 June 2019. 
  2. ↑ "Functional analysis of the C. elegans cyld-1 gene reveals extensive similarity with its human homolog". PLOS ONE 13 (2): e0191864. 2018. doi:10.1371/journal.pone.0191864. PMID 29394249. Bibcode: 2018PLoSO..1391864H. 
  3. ↑ "A large family with CYLD cutaneous syndrome: medical genetics at the community level". Journal of Community Genetics 11 (3): 279–284. July 2020. doi:10.1007/s12687-019-00447-2. PMID 31792733. 
  4. ↑ "Entrez Gene: CYLD cylindromatosis (turban tumor syndrome)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1540. 
  5. ↑ "Structure-function relationship of CAP-Gly domains". Nature Structural & Molecular Biology 14 (10): 959–67. October 2007. doi:10.1038/nsmb1291. PMID 17828277. 
  6. ↑ 6.0 6.1 6.2 "Genetic Testing in CYLD Cutaneous Syndrome: An Update". The Application of Clinical Genetics 14: 427–444. 2021. doi:10.2147/TACG.S288274. PMID 34744449. 
  7. ↑ 7.0 7.1 7.2 "CYLD Alterations in the Tumorigenesis and Progression of Human Papillomavirus-Associated Head and Neck Cancers". Molecular Cancer Research 19 (1): 14–24. January 2021. doi:10.1158/1541-7786.MCR-20-0565. PMID 32883697. 
  8. ↑ 8.0 8.1 "Deubiquitinases in hematological malignancies". Biomarker Research 9 (1): 66. August 2021. doi:10.1186/s40364-021-00320-w. PMID 34454635. 
  9. ↑ "Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome". Nature Communications 10 (1): 4717. October 2019. doi:10.1038/s41467-019-12746-w. PMID 31624251. Bibcode: 2019NatCo..10.4717D. 

Further reading

External links




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