Dynactin 5 (p25) is a protein that in humans is encoded by the DCTN5 gene .[5]
This gene encodes a subunit of dynactin, a component of the cytoplasmic dynein motor machinery involved in minus-end-directed transport. The encoded protein is a component of the pointed-end subcomplex and is thought to bind membranous cargo. A pseudogene of this gene is located on the long arm of chromosome 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.[5]
Model organisms [ ] Model organisms have been used in the study of DCTN5 function. A conditional knockout mouse line, called Dctn5tm2a(KOMP)Wtsi [11] [12] International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[13] [14] [15]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[9] [16] mutant mice and three significant abnormalities were observed.[9] homozygous mutant embryos were identified during gestation, and therefore none survived until weaning . The remaining tests were carried out on heterozygous mutant adult mice and abnormal lens morphology (including cataracts ) was observed in female animals.[9]
References [ ]
^ a b c GRCh38: Ensembl release 89: ENSG00000166847 - Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030868 - 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 .^ a b "Entrez Gene: Dynactin 5 (p25)" . Retrieved 2011-09-20 .^ "Eye morphology data for Dctn5" . Wellcome Trust Sanger Institute.^ "Salmonella infection data for Dctn5" . Wellcome Trust Sanger Institute.^ "Citrobacter infection data for Dctn5" . Wellcome Trust Sanger Institute.^ a b c d Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica . 88 : 925–7. doi :10.1111/j.1755-3768.2010.4142.x . S2CID 85911512 . ^ Mouse Resources Portal , Wellcome Trust Sanger Institute.^ "International Knockout Mouse Consortium" .[permanent dead link ^ "Mouse Genome Informatics" .^ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function" . Nature . 474 (7351): 337–342. doi :10.1038/nature10163 . PMC 3572410 PMID 21677750 . ^ Dolgin E (2011). "Mouse library set to be knockout" . Nature . 474 (7351): 262–3. doi :10.1038/474262a PMID 21677718 . ^ Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons" . Cell . 128 (1): 9–13. doi :10.1016/j.cell.2006.12.018 PMID 17218247 . S2CID 18872015 . ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism" . Genome Biol . 12 (6): 224. doi :10.1186/gb-2011-12-6-224 . PMC 3218837 PMID 21722353 .
Further reading [ ]
Eckley, D. M.; Gill, S. R.; Melkonian, K. A.; Bingham, J. B.; Goodson, H. V.; Heuser, J. E.; Schroer, T. A. (1999). "Analysis of Dynactin Subcomplexes Reveals a Novel Actin-Related Protein Associated with the Arp1 Minifilament Pointed End" . The Journal of Cell Biology . 147 (2): 307–320. doi :10.1083/jcb.147.2.307 . PMC 2174220 PMID 10525537 . Parisi, G.; Fornasari, M.; Echave, J. (2004). "Dynactins p25 and p27 are predicted to adopt the L?H fold" . FEBS Letters . 562 (1–3): 1–4. doi :10.1016/S0014-5793(04)00165-6 PMID 15043994 . S2CID 84381211 . Burton, P. R.; Clayton, D. G.; Cardon, L. R.; Craddock, N.; Deloukas, P.; Duncanson, A.; Kwiatkowski, D. P.; McCarthy, M. I.; Ouwehand, W. H.; Samani, N. J.; Todd, J. A.; Donnelly, P.; Barrett, J. C.; Burton, P. R.; Davison, D.; Donnelly, P.; Easton, D.; Evans, D.; Leung, H. T.; Marchini, J. L.; Morris, A. P.; Spencer, C. C. A.; Tobin, M. D.; Cardon, L. R.; Clayton, D. G.; Attwood, A. P.; Boorman, J. P.; Cant, B.; Everson, U.; Hussey, J. M. (2007). "Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls" . Nature . 447 (7145): 661–678. doi :10.1038/nature05911 . PMC 2719288 PMID 17554300 .
