Biology:Protein-truncating variants

From HandWiki

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/disorders

It was believed that protein-truncating variants are not associated with human diseases.[2] Recent studies have implied the involvement of PTVs in 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. et al. (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. PMID 25954003. Bibcode: 2015Sci...348..666R. 
  2. ↑ 2.0 2.1 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. PMID 24077912. 
  3. ↑ Easton, Douglas F.; Dunning, Alison M.; Pharoah, Paul DP; Ostrander, Elaine A.; Luben, Robert; Brown, Judith; Conroy, Don M.; Baynes, Caroline et al. (2017-11-01). "Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks" (in en). Journal of Medical Genetics (Journal of Medical Genetics, The BMJ) 54 (11): 732–741. doi:10.1136/jmedgenet-2017-104588. PMID 28779002. 
  4. ↑ pubmeddev; al, DeBoever C. , et (2018). "Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study. - PubMed - NCBI" (in en). Nature Communications 9 (1): 1612. doi:10.1038/s41467-018-03910-9. PMID 29691392. 
  5. ↑ MacArthur, Daniel G.; Lappalainen, Tuuli; Montgomery, Stephen B.; McCarthy, Mark I.; Dermitzakis, Emmanouil T.; Sammeth, Michael; Ardlie, Kristin; Donnelly, Peter et al. (2015-05-08). "Effect of predicted protein-truncating genetic variants on the human transcriptome" (in en). Science 348 (6235): 666–669. doi:10.1126/science.1261877. PMID 25954003. Bibcode: 2015Sci...348..666R. 
  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. 




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