PCDH11X

PCDH11X
Identifikatori
Aliasi	PCDH11X
Vanjski ID-jevi	OMIM: 300246 MGI: 2442849 HomoloGene: 13194 GeneCards: PCDH11X
Lokacija gena (čovjek)
Hrom.	Hromosom X
Kraj	92,623,230 bp
Lokacija gena (miš)
Hrom.	Hromosom X (miš)
Kraj	119,820,316 bp
Obrazac RNK ekspresije
	; ;
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• calcium ion binding;
Ćelijska komponenta	• integral component of membrane; • ćelijska membrana; • integral component of plasma membrane; • membrana;
Biološki proces	• negative regulation of phosphatase activity; • Ćelijska adhezija; • homophilic cell adhesion via plasma membrane adhesion molecules;
	Izvori:Amigo / QuickGO
Ortolozi
	27328
	245578
	ENSG00000102290
	ENSMUSG00000034755
	Q9BZA7
	n/a
NM_001168360; NM_001168361; NM_001168362; NM_001168363; NM_014522;
	NM_032967; NM_032968; NM_032969
	NM_001081385; NM_001271809; NM_001271810
NP_001161832; NP_001161833; NP_001161834; NP_001161835; NP_116750;
	NP_116751
	n/a
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

X-vezani protokaderin 11, poznat i kao PCDH11X, jest protein koji je kod ljudi kodiran genom PCDH11X.^[5]^[6]

Funkcija uredi

Ovaj gen pripada porodici protokaderinskih gena poporodici superporodice kaderina. Kodirani protein sastoji se od vanćelijskog domena sa sedam ponavljanja kaderina, transmembranske domene i citoplazmatskog repa koji se razlikuje od onog kod klasičnih kaderina. Gen se nalazi u glavnom X/ Y bloku homologije i njegov Y homolog (PCDH11Y), uprkos divergenciji koja dovodi do promjena u kodirajućem području, najuži je član porodice kaderina. Smatra se da ovaj protein igra osnovnu ulogu u prepoznavanju ćelija-ćelija neophodnom za segmentni razvoj i funkciju centralnog nervnog sistema. Transkripti koji proizlaze iz alternativne prerade kodiraju izoforme s promjenjivim citoplazmatskim domenima.^[5]

Klinički značaj uredi

U svegenomskoj studiji povezanosti, gen PCDH11X nađen je kao faktor rizika u kasnom nastanku Alzheimerove bolesti,^[7] ali druge studije o različitim populacijama ^[8]^[9]^[10]^[11] nisu mogle potvrditi početnu povezanost. Klinički značaj ovog gena nije jasan i može imati različite uloge u različitim, populacijski specifičnim kontekstima.

Reference uredi

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000102290 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000034755 - 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.
^ ^a ^b "Entrez Gene: PCDH11X protocadherin 11 X-linked".
^ Yoshida K, Sugano S (decembar 1999). "Identification of a novel protocadherin gene (PCDH11) on the human XY homology region in Xq21.3". Genomics. 62 (3): 540–3. doi:10.1006/geno.1999.6042. PMID 10644456.
^ Carrasquillo MM, Zou F, Pankratz VS, Wilcox SL, Ma L, Walker LP, Younkin SG, Younkin CS, Younkin LH, Bisceglio GD, Ertekin-Taner N, Crook JE, Dickson DW, Petersen RC, Graff-Radford NR, Younkin SG (februar 2009). "Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease". Nat. Genet. 41 (2): 192–8. doi:10.1038/ng.305. PMC 2873177. PMID 19136949.
^ Lescai F, Pirazzini C, D'Agostino G, Santoro A, Ghidoni R, Benussi L, Galimberti D, Federica E, Marchegiani F, Cardelli M, Olivieri F, Nacmias B, Sorbi S, Bagnoli S, Tagliavini F, Albani D, Martinelli Boneschi F, Binetti G, Forloni G, Quadri P, Scarpini E, Franceschi C (2010). "Failure to replicate an association of rs5984894 SNP in the PCDH11X gene in a collection of 1,222 Alzheimer's disease affected patients". J. Alzheimers Dis. 21 (2): 385–8. doi:10.3233/JAD-2010-091516. PMID 20555150.
^ Beecham GW, Naj AC, Gilbert JR, Haines JL, Buxbaum JD, Pericak-Vance MA (decembar 2010). "PCDH11X variation is not associated with late-onset Alzheimer disease susceptibility". Psychiatr. Genet. 20 (6): 321–4. doi:10.1097/YPG.0b013e32833b635d. PMC 2964434. PMID 20523261.
^ Wu ZC, Yu JT, Wang ND, Yu NN, Zhang Q, Chen W, Zhang W, Zhu QX, Tan L (oktobar 2010). "Lack of association between PCDH11X genetic variation and late-onset Alzheimer's disease in a Han Chinese population". Brain Res. 1357: 152–6. doi:10.1016/j.brainres.2010.08.008. PMID 20707987.
^ Miar A, Alvarez V, Corao AI, Alonso B, Díaz M, Menéndez M, Martínez C, Calatayud M, Morís G, Coto E (2011). "Lack of association between protocadherin 11-X/Y (PCDH11X and PCDH11Y) polymorphisms and late onset Alzheimer's disease" (PDF). Brain Research. 1383 (1383): 252–6. doi:10.1016/j.brainres.2011.01.054. PMID 21276771.

Dopunska literatura uredi

Yagi T, Takeichi M (2000). "Cadherin superfamily genes: functions, genomic organization, and neurologic diversity". Genes Dev. 14 (10): 1169–80. doi:10.1101/gad.14.10.1169 (neaktivno 10. 1. 2021). PMID 10817752.CS1 održavanje: DOI nije aktivan od 2021 (link)
Nollet F, Kools P, van Roy F (2000). "Phylogenetic analysis of the cadherin superfamily allows identification of six major subfamilies besides several solitary members". J. Mol. Biol. 299 (3): 551–72. doi:10.1006/jmbi.2000.3777. PMID 10835267.
Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
Yu W, Andersson B, Worley KC, et al. (1997). "Large-scale concatenation cDNA sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
Yoshida K, Sugano S (2000). "Identification of a novel protocadherin gene (PCDH11) on the human XY homology region in Xq21.3". Genomics. 62 (3): 540–3. doi:10.1006/geno.1999.6042. PMID 10644456.
Wu Q, Maniatis T (2000). "Large exons encoding multiple ectodomains are a characteristic feature of protocadherin genes". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3124–9. doi:10.1073/pnas.060027397. PMC 16203. PMID 10716726.
Nagase T, Kikuno R, Ishikawa KI, et al. (2000). "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 7 (1): 65–73. doi:10.1093/dnares/7.1.65. PMID 10718198.
Blanco P, Sargent CA, Boucher CA, et al. (2000). "Conservation of PCDHX in mammals; expression of human X/Y genes predominantly in brain". Mamm. Genome. 11 (10): 906–14. doi:10.1007/s003350010177. PMID 11003707.
Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, et al. (2003). "The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes". Nature. 423 (6942): 825–37. Bibcode:2003Natur.423..825S. doi:10.1038/nature01722. PMID 12815422.
Agate RJ, Choe M, Arnold AP (2004). "Sex differences in structure and expression of the sex chromosome genes CHD1Z and CHD1W in zebra finches". Mol. Biol. Evol. 21 (2): 384–96. doi:10.1093/molbev/msh027. PMID 14660691.
Blanco-Arias P, Sargent CA, Affara NA (2004). "Protocadherin X ( PCDHX) and Y ( PCDHY) genes; multiple mRNA isoforms encoding variant signal peptides and cytoplasmic domains". Mamm. Genome. 15 (1): 41–52. doi:10.1007/s00335-003-3028-7. PMID 14727141.
Ross MT, Grafham DV, Coffey AJ, et al. (2005). "The DNA sequence of the human X chromosome". Nature. 434 (7031): 325–37. Bibcode:2005Natur.434..325R. doi:10.1038/nature03440. PMC 2665286. PMID 15772651.
Wilson ND, Ross LJ, Crow TJ, Volpi EV (2006). "PCDH11 is X/Y homologous in Homo sapiens but not in Gorilla gorilla and Pan troglodytes". Cytogenet. Genome Res. 114 (2): 137–9. doi:10.1159/000093329. PMID 16825765.
Williams NA, Close JP, Giouzeli M, Crow TJ (2006). "Accelerated evolution of Protocadherin11X/Y: A candidate gene-pair for cerebral asymmetry and language". American Journal of Medical Genetics Part B. 141B (6): 623–633. doi:10.1002/ajmg.b.30357. PMID 16874762.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000102290 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000034755 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: PCDH11X protocadherin 11 X-linked".

[pmid10644456-6] Yoshida K, Sugano S (decembar 1999). "Identification of a novel protocadherin gene (PCDH11) on the human XY homology region in Xq21.3". Genomics. 62 (3): 540–3. doi:10.1006/geno.1999.6042. PMID 10644456.

[Carrasquillo_2009-7] Carrasquillo MM, Zou F, Pankratz VS, Wilcox SL, Ma L, Walker LP, Younkin SG, Younkin CS, Younkin LH, Bisceglio GD, Ertekin-Taner N, Crook JE, Dickson DW, Petersen RC, Graff-Radford NR, Younkin SG (februar 2009). "Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease". Nat. Genet. 41 (2): 192–8. doi:10.1038/ng.305. PMC 2873177. PMID 19136949.

[Lescai_2010-8] Lescai F, Pirazzini C, D'Agostino G, Santoro A, Ghidoni R, Benussi L, Galimberti D, Federica E, Marchegiani F, Cardelli M, Olivieri F, Nacmias B, Sorbi S, Bagnoli S, Tagliavini F, Albani D, Martinelli Boneschi F, Binetti G, Forloni G, Quadri P, Scarpini E, Franceschi C (2010). "Failure to replicate an association of rs5984894 SNP in the PCDH11X gene in a collection of 1,222 Alzheimer's disease affected patients". J. Alzheimers Dis. 21 (2): 385–8. doi:10.3233/JAD-2010-091516. PMID 20555150.

[Beecham_2010-9] Beecham GW, Naj AC, Gilbert JR, Haines JL, Buxbaum JD, Pericak-Vance MA (decembar 2010). "PCDH11X variation is not associated with late-onset Alzheimer disease susceptibility". Psychiatr. Genet. 20 (6): 321–4. doi:10.1097/YPG.0b013e32833b635d. PMC 2964434. PMID 20523261.

[Wu_2010-10] Wu ZC, Yu JT, Wang ND, Yu NN, Zhang Q, Chen W, Zhang W, Zhu QX, Tan L (oktobar 2010). "Lack of association between PCDH11X genetic variation and late-onset Alzheimer's disease in a Han Chinese population". Brain Res. 1357: 152–6. doi:10.1016/j.brainres.2010.08.008. PMID 20707987.

[Miar_2011-11] Miar A, Alvarez V, Corao AI, Alonso B, Díaz M, Menéndez M, Martínez C, Calatayud M, Morís G, Coto E (2011). "Lack of association between protocadherin 11-X/Y (PCDH11X and PCDH11Y) polymorphisms and late onset Alzheimer's disease" (PDF). Brain Research. 1383 (1383): 252–6. doi:10.1016/j.brainres.2011.01.054. PMID 21276771.

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