CDON and BOC are cell surface receptors of the immunoglobulin (Ig)/fibronectin type III (FNIII) repeat family involved in myogenic differentiation. CDON and BOC are coexpressed during development, form complexes with each other in a cis fashion, and are related to each other in their ectodomains, but each has a unique long cytoplasmic tail.[6]
Cell adhesion molecule-related/down-regulated by oncogenes (CDON) is a conserved transmembrane glycoprotein belonging to a subgroup of the immunoglobulin superfamily of cell adhesion molecules.[7] It is highly expressed in both the somites and dorsal lips of the neural tube of embryonic day 8.5 mice. It is expressed in proliferating and differentiating myoblast cell lines, there is evidence showing its role in mediating the effects of cell–cell interactions between muscle precursors that are critical in myogenesis.[8] It is also expressed in neural crest precursor cells, it regulates the localization of N-cadherin providing a mechanism for directed neural crest migration.[9] CDON protein was shown to bind to all three mammalian isoforms of hedgehog proteins: Sonic Hh, Indian Hh, and Desert Hh.[10]
Clinical significanceedit
CDON mutations are thought to diminish sonic hedgehog (SHH)-pathway activity which is important in stimulating cell proliferation, differentiation, and tissue patterning at multiple points in animal development. CDON was shown to play a role in differentiation of midbrain dopaminergic neurons through the interference with of Shh signaling pathway.[11] Mutations in CDON gene has been associated with Holoprosencephaly which is structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres.[12] CDON mutations synergistically interact with prenatal alcohol exposure to increase susceptibility to Holoprosencephaly.[13]
Gene knockdown studiesedit
CDON knockdown using morpholinos in zebra fish altered the eye development, CDON was shown important in restraining the size of the optic stalk and ventral retina in chick embryos.[13] Additionally, double CDON knock out mice display optic nerve hypoplasia (ONH), a prominent feature of septo-optic dysplasia (SOD), the same phenotype shown by treating mice prenatally with ethanol.[14] CDON−/− animals also show cardiac dysfunction with increased fibrosis, those cardiac effects are mediated through hyperactivation of WNT/β-catenin signaling.[15]
^ abcGRCh38: Ensembl release 89: ENSG00000064309 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000038119 – 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.
^Kang JS, Gao M, Feinleib JL, Cotter PD, Guadagno SN, Krauss RS (July 1997). "CDO: an oncogene-, serum-, and anchorage-regulated member of the Ig/fibronectin type III repeat family". The Journal of Cell Biology. 138 (1): 203–13. doi:10.1083/jcb.138.1.203. PMC2139939. PMID 9214393.
^Sanchez-Arrones L, Cardozo M, Nieto-Lopez F, Bovolenta P (May 2012). "Cdon and Boc: Two transmembrane proteins implicated in cell-cell communication". The International Journal of Biochemistry & Cell Biology. 44 (5): 698–702. doi:10.1016/j.biocel.2012.01.019. PMID 22326621.
^Kang JS, Mulieri PJ, Miller C, Sassoon DA, Krauss RS (October 1998). "CDO, a robo-related cell surface protein that mediates myogenic differentiation". The Journal of Cell Biology. 143 (2): 403–13. doi:10.1083/jcb.143.2.403. PMC2132836. PMID 9786951.
^Kavran JM, Ward MD, Oladosu OO, Mulepati S, Leahy DJ (August 2010). "All mammalian Hedgehog proteins interact with cell adhesion molecule, down-regulated by oncogenes (CDO) and brother of CDO (BOC) in a conserved manner". The Journal of Biological Chemistry. 285 (32): 24584–90. doi:10.1074/jbc.M110.131680. PMC2915694. PMID 20519495.
^Kwon YR, Jeong MH, Leem YE, Lee SJ, Kim HJ, Bae GU, Kang JS (September 2014). "The Shh coreceptor Cdo is required for differentiation of midbrain dopaminergic neurons". Stem Cell Research. 13 (2): 262–74. doi:10.1016/j.scr.2014.07.004. PMID 25117422.
^Bae GU, Domené S, Roessler E, Schachter K, Kang JS, Muenke M, Krauss RS (August 2011). "Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors". American Journal of Human Genetics. 89 (2): 231–40. doi:10.1016/j.ajhg.2011.07.001. PMC3155179. PMID 21802063.
^ abHong M, Krauss RS (October 2012). "Cdon mutation and fetal ethanol exposure synergize to produce midline signaling defects and holoprosencephaly spectrum disorders in mice". PLOS Genetics. 8 (10): e1002999. doi:10.1371/journal.pgen.1002999. PMC3469434. PMID 23071453.
^Kahn BM, Corman TS, Lovelace K, Hong M, Krauss RS, Epstein DJ (January 2017). "Prenatal ethanol exposure in mice phenocopies Cdon mutation by impeding Shh function in the etiology of optic nerve hypoplasia". Disease Models & Mechanisms. 10 (1): 29–37. doi:10.1242/dmm.026195. PMC5278523. PMID 27935818.
^Jeong MH, Kim HJ, Pyun JH, Choi KS, Lee DI, Solhjoo S, O'Rourke B, Tomaselli GF, Jeong DS, Cho H, Kang JS (February 2017). "Cdon deficiency causes cardiac remodeling through hyperactivation of WNT/β-catenin signaling". Proceedings of the National Academy of Sciences of the United States of America. 114 (8): E1345–E1354. Bibcode:2017PNAS..114E1345J. doi:10.1073/pnas.1615105114. PMC5338397. PMID 28154134.
^Kang JS, Feinleib JL, Knox S, Ketteringham MA, Krauss RS (April 2003). "Promyogenic members of the Ig and cadherin families associate to positively regulate differentiation". Proceedings of the National Academy of Sciences of the United States of America. 100 (7): 3989–94. Bibcode:2003PNAS..100.3989K. doi:10.1073/pnas.0736565100. PMC153035. PMID 12634428.
^Kang JS, Mulieri PJ, Hu Y, Taliana L, Krauss RS (January 2002). "BOC, an Ig superfamily member, associates with CDO to positively regulate myogenic differentiation". The EMBO Journal. 21 (1–2): 114–24. doi:10.1093/emboj/21.1.114. PMC125805. PMID 11782431.
Further readingedit
Wegorzewska M, Krauss RS, Kang JS (May 2003). "Overexpression of the immunoglobulin superfamily members CDO and BOC enhances differentiation of the human rhabdomyosarcoma cell line RD". Molecular Carcinogenesis. 37 (1): 1–4. doi:10.1002/mc.10121. PMID 12720294. S2CID 46652847.
Cole F, Krauss RS (March 2003). "Microform holoprosencephaly in mice that lack the Ig superfamily member Cdon". Current Biology. 13 (5): 411–5. Bibcode:2003CBio...13..411C. doi:10.1016/S0960-9822(03)00088-5. PMID 12620190. S2CID 14868560.
External linksedit
Human CDON genome location and CDON gene details page in the UCSC Genome Browser.
This article on a gene on human chromosome 11 is a stub. You can help Wikipedia by expanding it.
cdon, cell, adhesion, molecule, related, down, regulated, oncogenes, protein, that, humans, encoded, gene, available, structurespdbortholog, search, pdbe, rcsblist, codes3d1m, 3n1f, 3n1qidentifiersaliases, hpe11, orcam, cell, adhesion, associated, oncogene, re. Cell adhesion molecule related down regulated by oncogenes is a protein that in humans is encoded by the CDON gene 5 6 CDONAvailable structuresPDBOrtholog search PDBe RCSBList of PDB id codes3D1M 3N1F 3N1QIdentifiersAliasesCDON CDO CDON1 HPE11 ORCAM cell adhesion associated oncogene regulated IhogExternal IDsOMIM 608707 MGI 1926387 HomoloGene 22996 GeneCards CDONGene location Human Chr Chromosome 11 human 1 Band11q24 2Start125 955 796 bp 1 End126 063 335 bp 1 Gene location Mouse Chr Chromosome 9 mouse 2 Band9 9 A4Start35 421 128 bp 2 End35 507 652 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inganglionic eminenceAchilles tendongerminal epitheliumsynovial jointparietal pleuraleft uterine tubesmooth muscle tissuethyroid glandcerebellar hemisphereleft lobe of thyroid glandTop expressed inciliary bodyvas deferensutricleirisfootanklecondyledermisbelly cordfossaMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionprotein bindingCellular componentintegral component of membrane membrane extracellular matrix plasma membrane integral component of plasma membrane collagen containing extracellular matrixBiological processregulation of neuron differentiation positive regulation of small GTPase mediated signal transduction positive regulation of protein phosphorylation regulation of protein heterodimerization activity positive regulation of skeletal muscle tissue development positive regulation of muscle cell differentiation embryonic body morphogenesis cell fate specification skeletal muscle satellite cell differentiation positive regulation of neural precursor cell proliferation lens development in camera type eye positive regulation of myoblast differentiation embryonic morphogenesis positive regulation of neuron differentiation cerebral cortex development embryonic retina morphogenesis in camera type eye smoothened signaling pathway striated muscle cell differentiation myoblast fusion anterior posterior pattern specification positive regulation of MAPK cascade positive regulation of transcription by RNA polymerase II cell adhesionSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez5093757810EnsemblENSG00000064309ENSMUSG00000038119UniProtQ4KMG0Q32MD9RefSeq mRNA NM 001243597NM 016952NM 001378964NM 021339RefSeq protein NP 001230526NP 058648NP 001365893NP 067314NP 001392175NP 001392176NP 001392177NP 001392178NP 001392179NP 001392180Location UCSC Chr 11 125 96 126 06 MbChr 9 35 42 35 51 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse CDON and BOC are cell surface receptors of the immunoglobulin Ig fibronectin type III FNIII repeat family involved in myogenic differentiation CDON and BOC are coexpressed during development form complexes with each other in a cis fashion and are related to each other in their ectodomains but each has a unique long cytoplasmic tail 6 Contents 1 Structure and function 2 Clinical significance 3 Gene knockdown studies 4 Interactions 5 References 6 Further reading 7 External linksStructure and function editCell adhesion molecule related down regulated by oncogenes CDON is a conserved transmembrane glycoprotein belonging to a subgroup of the immunoglobulin superfamily of cell adhesion molecules 7 It is highly expressed in both the somites and dorsal lips of the neural tube of embryonic day 8 5 mice It is expressed in proliferating and differentiating myoblast cell lines there is evidence showing its role in mediating the effects of cell cell interactions between muscle precursors that are critical in myogenesis 8 It is also expressed in neural crest precursor cells it regulates the localization of N cadherin providing a mechanism for directed neural crest migration 9 CDON protein was shown to bind to all three mammalian isoforms of hedgehog proteins Sonic Hh Indian Hh and Desert Hh 10 Clinical significance editCDON mutations are thought to diminish sonic hedgehog SHH pathway activity which is important in stimulating cell proliferation differentiation and tissue patterning at multiple points in animal development CDON was shown to play a role in differentiation of midbrain dopaminergic neurons through the interference with of Shh signaling pathway 11 Mutations in CDON gene has been associated with Holoprosencephaly which is structural anomaly of the brain in which the developing forebrain fails to correctly separate into right and left hemispheres 12 CDON mutations synergistically interact with prenatal alcohol exposure to increase susceptibility to Holoprosencephaly 13 Gene knockdown studies editCDON knockdown using morpholinos in zebra fish altered the eye development CDON was shown important in restraining the size of the optic stalk and ventral retina in chick embryos 13 Additionally double CDON knock out mice display optic nerve hypoplasia ONH a prominent feature of septo optic dysplasia SOD the same phenotype shown by treating mice prenatally with ethanol 14 CDON animals also show cardiac dysfunction with increased fibrosis those cardiac effects are mediated through hyperactivation of WNT b catenin signaling 15 Interactions editCDON has been shown to interact with CDH1 16 and BOC 17 References edit a b c GRCh38 Ensembl release 89 ENSG00000064309 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000038119 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 Kang JS Gao M Feinleib JL Cotter PD Guadagno SN Krauss RS July 1997 CDO an oncogene serum and anchorage regulated member of the Ig fibronectin type III repeat family The Journal of Cell Biology 138 1 203 13 doi 10 1083 jcb 138 1 203 PMC 2139939 PMID 9214393 a b Entrez Gene CDON Cdon homolog mouse Sanchez Arrones L Cardozo M Nieto Lopez F Bovolenta P May 2012 Cdon and Boc Two transmembrane proteins implicated in cell cell communication The International Journal of Biochemistry amp Cell Biology 44 5 698 702 doi 10 1016 j biocel 2012 01 019 PMID 22326621 Kang JS Mulieri PJ Miller C Sassoon DA Krauss RS October 1998 CDO a robo related cell surface protein that mediates myogenic differentiation The Journal of Cell Biology 143 2 403 13 doi 10 1083 jcb 143 2 403 PMC 2132836 PMID 9786951 Powell DR Williams JS Hernandez Lagunas L Salcedo E O Brien JH Artinger KB November 2015 Cdon promotes neural crest migration by regulating N cadherin localization Developmental Biology 407 2 289 99 doi 10 1016 j ydbio 2015 07 025 PMC 4663112 PMID 26256768 Kavran JM Ward MD Oladosu OO Mulepati S Leahy DJ August 2010 All mammalian Hedgehog proteins interact with cell adhesion molecule down regulated by oncogenes CDO and brother of CDO BOC in a conserved manner The Journal of Biological Chemistry 285 32 24584 90 doi 10 1074 jbc M110 131680 PMC 2915694 PMID 20519495 Kwon YR Jeong MH Leem YE Lee SJ Kim HJ Bae GU Kang JS September 2014 The Shh coreceptor Cdo is required for differentiation of midbrain dopaminergic neurons Stem Cell Research 13 2 262 74 doi 10 1016 j scr 2014 07 004 PMID 25117422 Bae GU Domene S Roessler E Schachter K Kang JS Muenke M Krauss RS August 2011 Mutations in CDON encoding a hedgehog receptor result in holoprosencephaly and defective interactions with other hedgehog receptors American Journal of Human Genetics 89 2 231 40 doi 10 1016 j ajhg 2011 07 001 PMC 3155179 PMID 21802063 a b Hong M Krauss RS October 2012 Cdon mutation and fetal ethanol exposure synergize to produce midline signaling defects and holoprosencephaly spectrum disorders in mice PLOS Genetics 8 10 e1002999 doi 10 1371 journal pgen 1002999 PMC 3469434 PMID 23071453 Kahn BM Corman TS Lovelace K Hong M Krauss RS Epstein DJ January 2017 Prenatal ethanol exposure in mice phenocopies Cdon mutation by impeding Shh function in the etiology of optic nerve hypoplasia Disease Models amp Mechanisms 10 1 29 37 doi 10 1242 dmm 026195 PMC 5278523 PMID 27935818 Jeong MH Kim HJ Pyun JH Choi KS Lee DI Solhjoo S O Rourke B Tomaselli GF Jeong DS Cho H Kang JS February 2017 Cdon deficiency causes cardiac remodeling through hyperactivation of WNT b catenin signaling Proceedings of the National Academy of Sciences of the United States of America 114 8 E1345 E1354 Bibcode 2017PNAS 114E1345J doi 10 1073 pnas 1615105114 PMC 5338397 PMID 28154134 Kang JS Feinleib JL Knox S Ketteringham MA Krauss RS April 2003 Promyogenic members of the Ig and cadherin families associate to positively regulate differentiation Proceedings of the National Academy of Sciences of the United States of America 100 7 3989 94 Bibcode 2003PNAS 100 3989K doi 10 1073 pnas 0736565100 PMC 153035 PMID 12634428 Kang JS Mulieri PJ Hu Y Taliana L Krauss RS January 2002 BOC an Ig superfamily member associates with CDO to positively regulate myogenic differentiation The EMBO Journal 21 1 2 114 24 doi 10 1093 emboj 21 1 114 PMC 125805 PMID 11782431 Further reading editWegorzewska M Krauss RS Kang JS May 2003 Overexpression of the immunoglobulin superfamily members CDO and BOC enhances differentiation of the human rhabdomyosarcoma cell line RD Molecular Carcinogenesis 37 1 1 4 doi 10 1002 mc 10121 PMID 12720294 S2CID 46652847 Cole F Krauss RS March 2003 Microform holoprosencephaly in mice that lack the Ig superfamily member Cdon Current Biology 13 5 411 5 Bibcode 2003CBio 13 411C doi 10 1016 S0960 9822 03 00088 5 PMID 12620190 S2CID 14868560 External links editHuman CDON genome location and CDON gene details page in the UCSC Genome Browser nbsp This article on a gene on human chromosome 11 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title CDON amp oldid 1215564969, wikipedia, wiki, book, books, library,
