Protein-truncating variants

Protein-truncating variants (PTVs) are genetic variants predicted to shorten the coding sequence of genes,[1] through ways like a stop-gain mutation.[2][3][4][5] PTV is sometime categorized under the umbrella term frameshift or truncating variants (FTVs), which includes both PTVs and DNA variants caused by frameshift mutation.

Implication in diseases

It was believed that protein-truncating variants are not associated with human diseases,[2] but recent studies have implied the involvement of PTVs in diseases like the autism spectrum disorder.[6]

References
  1. Rivas, M. A.; Pirinen, M.; Conrad, D. F.; Lek, M.; Tsang, E. K.; Karczewski, K. J.; Maller, J. B.; Kukurba, K. R.; DeLuca, D. S. (2015-05-08). "Effect of predicted protein-truncating genetic variants on the human transcriptome". Science. 348 (6235): 666–669. doi:10.1126/science.1261877. ISSN 0036-8075. PMC 4537935. PMID 25954003.
  2. Stenson, Peter D.; Mort, Matthew; Ball, Edward V.; Shaw, Katy; Phillips, Andrew D.; Cooper, David N. (January 2014). "The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine". Human Genetics. 133 (1): 1–9. doi:10.1007/s00439-013-1358-4. ISSN 0340-6717. PMC 3898141. PMID 24077912.
  3. Easton, Douglas F.; Dunning, Alison M.; Pharoah, Paul DP; Ostrander, Elaine A.; Luben, Robert; Brown, Judith; Conroy, Don M.; Baynes, Caroline; Ahmed, Shahana (2017-11-01). "Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks". Journal of Medical Genetics. Journal of Medical Genetics, The BMJ. 54 (11): 732–741. doi:10.1136/jmedgenet-2017-104588. PMC 5740532. PMID 28779002. Retrieved 2019-09-03.
  4. pubmeddev; al, DeBoever C. , et (2018). "Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study. - PubMed - NCBI". Nature Communications. 9 (1): 1612. doi:10.1038/s41467-018-03910-9. PMC 5915386. PMID 29691392.
  5. MacArthur, Daniel G.; Lappalainen, Tuuli; Montgomery, Stephen B.; McCarthy, Mark I.; Dermitzakis, Emmanouil T.; Sammeth, Michael; Ardlie, Kristin; Donnelly, Peter; Guigo, Roderic (2015-05-08). "Effect of predicted protein-truncating genetic variants on the human transcriptome". Science. 348 (6235): 666–669. doi:10.1126/science.1261877. PMC 4537935. PMID 25954003.
  6. De Rubeis, S He, X Goldberg, AP Poultney, CS Samocha, K Cicek, AE Kou, Y Liu, L Fromer, M Walker, S Singh, T Klei, L Kosmicki, J Shih-Chen, F Aleksic, B Biscaldi, M Bolton, PF Brownfeld, JM Cai, J Campbell, NG Carracedo, A Chahrour, MH Chiocchetti, AG Coon, H Crawford, EL Curran, SR Dawson, G Duketis, E Fernandez, BA Gallagher, L Geller, E Guter, SJ Hill, RS Ioniță-Laza, J Jimenz Gonzalez, P Kilpinen, H Klauck, SM Kolevzon, A Lee, I Lei, I Lei, J Lehtimäki, T Lin, C-F Ma'ayan, A Marshall, CR McInnes, AL Neale, B Owen, MJ Ozaki, N Parellada, M Parr, JR Purcell, S Puura, K Rajagopalan, D Rehnström, K Reichenberg, A Sabo, A Sachse, M Sanders, SJ Schafer, C Schulte-Rüther, M Skuse, D Stevens, C Szatmari, P Tammimies, K Valladares, O Voran, A Li-San, W Weiss, LA Willsey, AJ Yu, TW Yuen, RKC DDD Study, Homozygosity Mapping Collaborative for Autism, UK10K Consortium, Cook, EH Freitag, CM Gill, M Hultman, CM Lehner, T Palotie, A Schellenberg, GD Sklar, P State, MW Sutcliffe, JS Walsh, CA Scherer, SW Zwick, ME Barett, JC Cutler, DJ Roeder, K Devlin, B Daly, MJ Buxbaum, JD (2014-11-13). Synaptic, transcriptional and chromatin genes disrupted in autism. OCLC 1031073384.CS1 maint: multiple names: authors list (link)
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