KPTN
Kaptin je protein koji je kod ljudi kodiran genom KPTN.[5][6]
Aminokiselinska sekvenca
- Simboli
C: Cistein
D: Asparaginska kiselina
E: Glutaminska kiselina
F: Fenilalanin
G: Glicin
H: Histidin
I: Izoleucin
K: Lizin
L: Leucin
M: Metionin
N: Asparagin
P: Prolin
Q: Glutamin
R: Arginin
S: Serin
T: Treonin
V: Valin
W: Triptofan
Y: Tirozin
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MMGEAAVAAG | PCPLREDSFT | RFSSQSNVYG | LAGGAGGRGE | LLAATLKGKV | ||||
| LGFRYQDLRQ | KIRPVAKELQ | FNYIPVDAEI | VSIDTFNKSP | PKRGLVVGIT | ||||
| FIKDSGDKGS | PFLNIYCDYE | PGSEYNLDSI | AQSCLNLELQ | FTPFQLCHAE | ||||
| VQVGDQLETV | FLLSGNDPAI | HLYKENEGLH | QFEEQPVENL | FPELTNLTSS | ||||
| VLWLDVHNFP | GTSRRLSALG | CQSGYVRVAH | VDQRSREVLQ | MWSVLQDGPI | ||||
| SRVIVFSLSA | AKETKDRPLQ | DEYSVLVASM | LEPAVVYRDL | LNRGLEDQLL | ||||
| LPGSDQFDSV | LCSLVTDVDL | DGRPEVLVAT | YGQELLCYKY | RGPESGLPEA | ||||
| QHGFHLLWQR | SFSSPLLAMA | HVDLTGDGLQ | ELAVVSLKGV | HILQHSLIQA | ||||
| SELVLTRLRH | QVEQRRRRLQ | GLEDGAGAGP | AENAAS |
Model organizmi[uredi | uredi izvor]
| Svojstvo | Fenotip |
|---|---|
| Vijabilnost homozigota | Normalna |
| Plodnost | Normalna |
| Tjelesna težina | Nenormalna[7] |
| Ansioznost na testu otvorenog polja | Normalna |
| Neurološka procjena | Normaln |
| Snaga stiska | Normalna |
| Vruća oloča | Normalna |
| Dusmorphologija | Normalna |
| Indirektna jalorimetrija | Normalna |
| Ttest tolerancije glukoze | Nenormalan[8] |
| Slušni odgovor moždanog debla | Normalan |
| DEXA | Nenormalna[9] |
| Radiografija | Normalna |
| Tjelesna temperatura | Normalna |
| Morfologija oka | Normalna |
| Klinička hemija (nalazi) | Nenormalna[10] |
| Hematologija | Normalna |
| Periferni krvni limfociti | Nenormalni[11] |
| Mikronukleus test | Normalan |
| Težina srca | Normalna |
| Infekcija salmonelom | Nenormalna[12] |
| Infekcija Citrobacter-om | Normalna[13] |
| Svi testovi i podaci sa linka[14][15] |
Model-organizmi korišteni su u proučavanju funkcije KPTN-a. Uslovna linija nokaut-miša, zvana Kptn tm1a(EUCOMM)Wtsi[16][17] generirana u okviru programa Međunarodni konzorcij za nokaut-miševe – visokopropusnog projekta mutageneze za generiranje i distribuciju životinjskih modela bolesti zainteresiranim naučnicima.[18][19][20]
Muške i ženske životinje prolazile su standardizirani fenotipski pregled, kako bi se utvrdili efekti delecije.[14][21] Izvedena su 22 testa na mutantnim miševima i uočeno je šest značajnih abnormalnosti.[14] Homozigotni mutirani miševi su imali hiperalbuminemiju, smanjen broj zrelih B-ćelija i povećanu osjetljivosti na bakterijsku infekciju. Ženke su također imale povećanu tjelesnu težinu, tjelesnu masnoću i smanjenu toleranciju glukoze.[14]
Klinički značaj[uredi | uredi izvor]
Mutacije u ovom genu povezane su sa sindromom akrocefalije, mišićne hipotonije, globalnog kašnjenja u razvoju, dispraksije i sinkinezije ruku i usta.[22]
Reference[uredi | uredi izvor]
- ^ a b c GRCh38: Ensembl release 89: ENSG00000118162 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000006021 - 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.
- ^ Bearer EL, Abraham MT (februar 1999). "2E4 (kaptin): a novel actin-associated protein from human blood platelets found in lamellipodia and the tips of the stereocilia of the inner ear". European Journal of Cell Biology. 78 (2): 117–26. doi:10.1016/s0171-9335(99)80013-2. PMC 3376092. PMID 10099934.
- ^ "Entrez Gene: KPTN kaptin (actin binding protein)".
- ^ "Body weight data for Kptn". Wellcome Trust Sanger Institute.
- ^ "Glucose tolerance test data for Kptn". Wellcome Trust Sanger Institute.
- ^ "DEXA data for Kptn". Wellcome Trust Sanger Institute.
- ^ "Clinical chemistry data for Kptn". Wellcome Trust Sanger Institute.
- ^ "Peripheral blood lymphocytes data for Kptn". Wellcome Trust Sanger Institute.
- ^ "Salmonella infection data for Kptn". Wellcome Trust Sanger Institute.
- ^ "Citrobacter infection data for Kptn". 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".[mrtav link]
- ^ "Mouse Genome Informatics".
- ^ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, et al. (juni 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
- ^ Dolgin E (juni 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
- ^ Collins FS, Rossant J, Wurst W (januar 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 (juni 2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.
- ^ Lucena PH, Armani-Franceschi G, Bispo-Torres AC, Bandeira ID, Lucena MF, Maldonado I, et al. (2020). "KPTN gene homozygous variant-related syndrome in the northeast of Brazil: A case report". Am J Med Genet A. 182 (4): 762–767. doi:10.1002/ajmg.a.61492. PMID 31999056. S2CID 210945773.
Dopunska literatura[uredi | uredi izvor]
- Bearer EL, Prakash JM, Li Z (2002). "Actin dynamics in platelets". International Review of Cytology. 217: 137–82. doi:10.1016/S0074-7696(02)17014-8. ISBN 9780123646217. PMC 3376087. PMID 12019562.
- Bearer EL (mart 1992). "An actin-associated protein present in the microtubule organizing center and the growth cones of PC-12 cells". The Journal of Neuroscience. 12 (3): 750–61. doi:10.1523/jneurosci.12-03-00750.1992. PMC 3376081. PMID 1372044.
- Maruyama K, Sugano S (januar 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (oktobar 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Bearer EL, Chen AF, Chen AH, Li Z, Mark HF, Smith RJ, Jackson CL (maj 2000). "2E4/Kaptin (KPTN)--a candidate gene for the hearing loss locus, DFNA4". Annals of Human Genetics. 64 (Pt 3): 189–96. doi:10.1046/j.1469-1809.2000.6430189.x. PMC 3376086. PMID 11409409.
- Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, et al. (januar 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
- Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.