NAPB
Beta-topivi NSF vezni protein je protein koji je kod ljudi kodiran genom NAPB.[5][6]
Gen NAPB kodira kofaktor uključen u fuziju i reciklažu sinapsniih vezikula zavisnih od SNARE kompleksa.
Whiteheart et al. (1993) klonirali beta-snap iz goveđeg mozga i identificirali homolog miša. Izvedeni protein goveda sadrži dva domena sa spiralnom zavojnicom i pet pretpostavljenih mjesta fosforilacije kazein-kinaza II . Northern blot analiza mišjih tkiva otkrila je ekspresiju beta-Snapa samo u mozgu.
Životinjski model
Burgalossi et al. (2010) otkrili su da su napb-nulti miševi razvili teške rekurentne epileptične napade od 11. postnatusnog dana nadalje, praćene ataksijom. Mutantni mozak nije pokazivao morfološke promjene u odnosu na divlji tip, a neuroni hipokampusa izvedeni od mutiranih miševa nisu pokazivali uočljive promjene prenosa u sinapsama.
Kod šestogodišnje djevojčice, srodnih roditelja irskog porijekla, s ranom infantilnom epileptičnom encefalopatijom, Conroy et at. (2016) identificirali su homozigotnu transverziju c.565C-A (c.565C-A, ENST00000377026), što je rezultiralo zamjenom ser160-to-ter (S160X). Mutacija, koja je pronađena sekvenciranjem i potvrđena Sanger sekvenciranjem, razdvajala se od poremećaja u porodici. Funkcijske studije varijante i studije ćelija pacijenta nisu provedene, ali se predviđalo da će varijanta rezultirati gubitkom proteina i potpunim gubitkom funkcije, sa vjerovatnoćom od 46%. U kohorti od 49 irskih pacijenata sa sličnim fenotipom nisu pronađene NAPB varijante. Pacijent je imao miješane tonusne / ili klonusne napade u dobi od pet mjeseci, praćene progresivnom mikrocefalijom, dubokim globalnim zastojem u razvoju s odsustvom govora i hipotonijom.[7][8][9]
Reference
- ^ a b c GRCh38: Ensembl release 89: ENSG00000125814 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027438 - Ensembl, maj 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.
- ^ Whiteheart SW, Griff IC, Brunner M, Clary DO, Mayer T, Buhrow SA, Rothman JE (Apr 1993). "SNAP family of NSF attachment proteins includes a brain-specific isoform". Nature. 362 (6418): 353–5. Bibcode:1993Natur.362..353W. doi:10.1038/362353a0. PMID 8455721. S2CID 4341471.
- ^ "Entrez Gene: NAPB N-ethylmaleimide-sensitive factor attachment protein, beta".
- ^ Burgalossi, A., Jung, S., Meyer, G., Jockusch, W. J., Jahn, O., Taschenberger, H., O'Connor, V. M., Nishiki, T., Takahashi, M., Brose, N., Rhee, J.-S. SNARE protein recycling by alpha-SNAP and beta-SNAP supports synaptic vesicle priming. Neuron 68: 473-487, 2010. Note: Erratum: Neuron 73: 620 only, 2012. [PubMed]: 21040848
- ^ Conroy, J., Allen, N. M., Gorman, K. M., Shahwan, A., Ennis, S., Lynch, S. A., King, M. D. NAPB--a novel SNARE-associated protein for early-onset epileptic encephalopathy. Clin. Genet. 89: E1-E3, 2016. Note: Electronic Article. [PubMed[: 26235277.
- ^ Whiteheart, S. W., Griff, I. C., Brunner, M., Clary, D. O., Mayer, T., Buhrow, S. A., Rothman, J. E. SNAP family of NSF attachment proteins includes a brain-specific isoform. Nature 362: 353-355, 1993. [PubMed]: 8455721
Dopunska literatura
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Deloukas P, Matthews LH, Ashurst J, et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–71. Bibcode:2001Natur.414..865D. doi:10.1038/414865a. PMID 11780052.
- Prekeris R, Klumperman J, Chen YA, Scheller RH (1998). "Syntaxin 13 mediates cycling of plasma membrane proteins via tubulovesicular recycling endosomes". J. Cell Biol. 143 (4): 957–71. doi:10.1083/jcb.143.4.957. PMC 2132958. PMID 9817754.
- Osten P, Srivastava S, Inman GJ, et al. (1998). "The AMPA receptor GluR2 C terminus can mediate a reversible, ATP-dependent interaction with NSF and alpha- and beta-SNAPs". Neuron. 21 (1): 99–110. doi:10.1016/S0896-6273(00)80518-8. PMID 9697855. S2CID 18569829.
- Wilson DW, Whiteheart SW, Wiedmann M, et al. (1992). "A multisubunit particle implicated in membrane fusion". J. Cell Biol. 117 (3): 531–8. doi:10.1083/jcb.117.3.531. PMC 2289450. PMID 1315316.
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