Biology:PCDH11X
Protocadherin 11 X-linked, also known as PCDH11X, is a protein which in humans is encoded by the PCDH11X gene.[1][2]
Function
This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 7 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene is located in a major X/Y block of homology and its Y homolog (PCDH11Y), despite divergence leading to coding region changes, is the most closely related cadherin family member. The protein is thought to play a fundamental role in cell–cell recognition essential for the segmental development and function of the central nervous system. Neuronal self-avoidance is intricately linked to protocadherin activity. It also plays a role in structural cell-to-cell adherence. Transcripts arising from alternative splicing encode isoforms with variable cytoplasmic domains.[1]
Clinical significance
In a genome-wide association study, the PCDH11X gene has been linked as a risk factor in late onset Alzheimer's disease,[3] but other studies on different populations [4][5][6][7] could not confirm the initial association. The clinical significance of this gene is unclear, and the gene might play different roles in different population specific contexts.
References
- ↑ 1.0 1.1 "Entrez Gene: PCDH11X protocadherin 11 X-linked". https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=27328.
- ↑ "Identification of a novel protocadherin gene (PCDH11) on the human XY homology region in Xq21.3". Genomics 62 (3): 540–3. December 1999. doi:10.1006/geno.1999.6042. PMID 10644456.
- ↑ "Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease". Nat. Genet. 41 (2): 192–8. February 2009. doi:10.1038/ng.305. PMID 19136949.
- ↑ "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. 2010. doi:10.3233/JAD-2010-091516. PMID 20555150.
- ↑ "PCDH11X variation is not associated with late-onset Alzheimer disease susceptibility". Psychiatr. Genet. 20 (6): 321–4. December 2010. doi:10.1097/YPG.0b013e32833b635d. PMID 20523261.
- ↑ "Lack of association between PCDH11X genetic variation and late-onset Alzheimer's disease in a Han Chinese population". Brain Res. 1357: 152–6. October 2010. doi:10.1016/j.brainres.2010.08.008. PMID 20707987.
- ↑ "Lack of association between protocadherin 11-X/Y (PCDH11X and PCDH11Y) polymorphisms and late onset Alzheimer's disease". Brain Research 1383 (1383): 252–6. 2011. doi:10.1016/j.brainres.2011.01.054. PMID 21276771. https://ria.asturias.es/RIA/bitstream/123456789/763/1/Archivo.pdf. Retrieved 2019-02-21.
Further reading
- "Cadherin superfamily genes: functions, genomic organization, and neurologic diversity". Genes Dev. 14 (10): 1169–80. 2000. doi:10.1101/gad.14.10.1169. PMID 10817752.
- "Phylogenetic analysis of the cadherin superfamily allows identification of six major subfamilies besides several solitary members". J. Mol. Biol. 299 (3): 551–72. 2000. doi:10.1006/jmbi.2000.3777. PMID 10835267.
- "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. 1996. doi:10.1006/abio.1996.0138. PMID 8619474.
- "Large-scale concatenation cDNA sequencing". Genome Res. 7 (4): 353–8. 1997. doi:10.1101/gr.7.4.353. PMID 9110174.
- "Identification of a novel protocadherin gene (PCDH11) on the human XY homology region in Xq21.3". Genomics 62 (3): 540–3. 2000. doi:10.1006/geno.1999.6042. PMID 10644456.
- "Large exons encoding multiple ectodomains are a characteristic feature of protocadherin genes". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3124–9. 2000. doi:10.1073/pnas.060027397. PMID 10716726.
- "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. 2000. doi:10.1093/dnares/7.1.65. PMID 10718198.
- "Conservation of PCDHX in mammals; expression of human X/Y genes predominantly in brain". Mamm. Genome 11 (10): 906–14. 2000. doi:10.1007/s003350010177. PMID 11003707.
- "The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes". Nature 423 (6942): 825–37. 2003. doi:10.1038/nature01722. PMID 12815422. Bibcode: 2003Natur.423..825S.
- "Sex differences in structure and expression of the sex chromosome genes CHD1Z and CHD1W in zebra finches". Mol. Biol. Evol. 21 (2): 384–96. 2004. doi:10.1093/molbev/msh027. PMID 14660691.
- "Protocadherin X ( PCDHX) and Y ( PCDHY) genes; multiple mRNA isoforms encoding variant signal peptides and cytoplasmic domains". Mamm. Genome 15 (1): 41–52. 2004. doi:10.1007/s00335-003-3028-7. PMID 14727141.
- "The DNA sequence of the human X chromosome". Nature 434 (7031): 325–37. 2005. doi:10.1038/nature03440. PMID 15772651. Bibcode: 2005Natur.434..325R.
- "PCDH11 is X/Y homologous in Homo sapiens but not in Gorilla gorilla and Pan troglodytes". Cytogenet. Genome Res. 114 (2): 137–9. 2006. doi:10.1159/000093329. PMID 16825765.
- "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. 2006. doi:10.1002/ajmg.b.30357. PMID 16874762.
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