EURL is a structural protein gene that is encoded within the human chromosome 21.[6][7] It stands for gene Expressed in Undifferentiated Retina and Lens and was first found in chick embryos. It is also known as C21orf 91 (Chromosome 21 open reading frame 91).[8] This gene produces many molecules; among them is a protein that influences neural development. This protein-coding region helps to code for neural development in humans and is strongly associated with neural progenitor cells as well as neurons associated with the cerebral cortex of the brain.[6]
Thus, being on chromosome 21, defects linked to this gene are heavily correlated to Down Syndrome. There are some knockout models regarding other genes involved in Down Syndrome, but there seems to be primary interest in a knockdown model for this specific gene. It is believed that because there is three codes of this gene rather than two, that the higher concentration of this molecule has the implications leading to Down Syndrome. Scientists are currently working on a hypothesis that the dosage of the EURL protein is directly correlated to neural development in the embryo and how an altered dosage leads to the neural deficits seen in Down Syndrome.[6]
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000154642 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000022864 – 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.
^"Entrez Gene: Chromosome 21 open reading frame 91". Retrieved 2017-06-01.
^ abcLi SS, Qu Z, Haas M, Ngo L, Heo YJ, Kang HJ, et al. (July 2016). "The HSA21 gene EURL/C21ORF91 controls neurogenesis within the cerebral cortex and is implicated in the pathogenesis of Down Syndrome". Scientific Reports. 6: 29514. Bibcode:2016NatSR...629514L. doi:10.1038/srep29514. PMC4941730. PMID 27404227.
^Kirk IK, Weinhold N, Belling K, Skakkebæk NE, Jensen TS, Leffers H, et al. (March 2017). "Chromosome-wise Protein Interaction Patterns and Their Impact on Functional Implications of Large-Scale Genomic Aberrations". Cell Systems. 4 (3): 357–364.e3. doi:10.1016/j.cels.2017.01.001. PMID 28215527.
chromosome, open, reading, frame, protein, that, humans, encoded, c21orf91, gene, c21orf91identifiersaliasesc21orf91, c21orf14, c21orf38, cssg1, eurl, yg81, chromosome, open, reading, frame, 91external, idsmgi, 1196400, homologene, 9696, genecards, c21orf91gen. Chromosome 21 open reading frame 91 is a protein that in humans is encoded by the C21orf91 gene 5 C21orf91IdentifiersAliasesC21orf91 C21orf14 C21orf38 CSSG1 EURL YG81 chromosome 21 open reading frame 91External IDsMGI 1196400 HomoloGene 9696 GeneCards C21orf91Gene location Human Chr Chromosome 21 human 1 Band21q21 1Start17 788 974 bp 1 End17 819 386 bp 1 Gene location Mouse Chr Chromosome 16 mouse 2 Band16 C3 1 16 45 36 cMStart78 337 226 bp 2 End78 373 596 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed insperminferior ganglion of vagus nervepalpebral conjunctivacorpus callosumparietal pleuraendothelial cellsubthalamic nucleusinternal globus pallidustibiaamniotic fluidTop expressed inspermatidhair follicleseminiferous tubuleretinal pigment epitheliumspermatocyteascending aortaaortic valveseminal vesiculaconjunctival fornixcorneaMore reference expression dataBioGPSn aOrthologsSpeciesHumanMouseEntrez5414967102EnsemblENSG00000154642ENSMUSG00000022864UniProtQ9NYK6Q9D7G4RefSeq mRNA NM 017447NM 001100420NM 001100421NM 001252438NM 001252439NM 001252440NM 025967RefSeq protein NP 001093890NP 001093891NP 059143NP 001239367NP 001239368NP 001239369NP 080243Location UCSC Chr 21 17 79 17 82 MbChr 16 78 34 78 37 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse EURL is a structural protein gene that is encoded within the human chromosome 21 6 7 It stands for gene Expressed in Undifferentiated Retina and Lens and was first found in chick embryos It is also known as C21orf 91 Chromosome 21 open reading frame 91 8 This gene produces many molecules among them is a protein that influences neural development This protein coding region helps to code for neural development in humans and is strongly associated with neural progenitor cells as well as neurons associated with the cerebral cortex of the brain 6 Thus being on chromosome 21 defects linked to this gene are heavily correlated to Down Syndrome There are some knockout models regarding other genes involved in Down Syndrome but there seems to be primary interest in a knockdown model for this specific gene It is believed that because there is three codes of this gene rather than two that the higher concentration of this molecule has the implications leading to Down Syndrome Scientists are currently working on a hypothesis that the dosage of the EURL protein is directly correlated to neural development in the embryo and how an altered dosage leads to the neural deficits seen in Down Syndrome 6 References edit a b c GRCh38 Ensembl release 89 ENSG00000154642 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000022864 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 Entrez Gene Chromosome 21 open reading frame 91 Retrieved 2017 06 01 a b c Li SS Qu Z Haas M Ngo L Heo YJ Kang HJ et al July 2016 The HSA21 gene EURL C21ORF91 controls neurogenesis within the cerebral cortex and is implicated in the pathogenesis of Down Syndrome Scientific Reports 6 29514 Bibcode 2016NatSR 629514L doi 10 1038 srep29514 PMC 4941730 PMID 27404227 Kirk IK Weinhold N Belling K Skakkebaek NE Jensen TS Leffers H et al March 2017 Chromosome wise Protein Interaction Patterns and Their Impact on Functional Implications of Large Scale Genomic Aberrations Cell Systems 4 3 357 364 e3 doi 10 1016 j cels 2017 01 001 PMID 28215527 C21orf91 Retrieved 14 April 2019 Further reading editGodbout R Andison R Katyal S Bisgrove DA July 2003 Isolation of a novel cDNA enriched in the undifferentiated chick retina and lens Developmental Dynamics 227 3 409 15 doi 10 1002 dvdy 10310 PMID 12815627 S2CID 40129186 External links edit Tissue expression of C21orf91 Summary the Human Protein Atlas Retrieved 14 April 2019 nbsp This article on a gene on human chromosome 21 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Chromosome 21 open reading frame 91 amp oldid 1075837955, wikipedia, wiki, book, books, library,
