Genomic study of the critical region of chromosome 21 associated to Down syndrome

Análisis previos han identificado una región del cromosoma 21, conocida como región crítica del síndrome de Down (DSCR) en donde se localizan algunos genes cuya expresión modularía las principales características clínicas de este síndrome. En este sentido, existe poca información detallada sobre la...

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Autores:: Montoya Villegas, Julio César
Soto, Juliana
Satizábal Soto, José María
Sánchez Gómez, Adalberto
García Vallejo, Felipe

Tipo de recurso:: Article of journal

Fecha de publicación:: 2011

Institución:: Universidad Autónoma de Occidente

Repositorio:: RED: Repositorio Educativo Digital UAO

Idioma:: eng

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dc.title.eng.fl_str_mv	Genomic study of the critical region of chromosome 21 associated to Down syndrome
dc.title.alternative.spa.fl_str_mv	Estudio genómico de la región crítica del cromosoma 21 asociada con el síndrome de Down
title	Genomic study of the critical region of chromosome 21 associated to Down syndrome
spellingShingle	Genomic study of the critical region of chromosome 21 associated to Down syndrome Síndrome de Down Cromosoma humano 21 Down syndrome Human chromosome 21 No disyunción Epigenética Arquitectura cromatínica Genómica Región crítica del síndrome de Down Non-disjunction Epigenetics Chromatin architecture Genomics Down syndrome critical region
title_short	Genomic study of the critical region of chromosome 21 associated to Down syndrome
title_full	Genomic study of the critical region of chromosome 21 associated to Down syndrome
title_fullStr	Genomic study of the critical region of chromosome 21 associated to Down syndrome
title_full_unstemmed	Genomic study of the critical region of chromosome 21 associated to Down syndrome
title_sort	Genomic study of the critical region of chromosome 21 associated to Down syndrome
dc.creator.fl_str_mv	Montoya Villegas, Julio César Soto, Juliana Satizábal Soto, José María Sánchez Gómez, Adalberto García Vallejo, Felipe
dc.contributor.author.none.fl_str_mv	Montoya Villegas, Julio César Soto, Juliana Satizábal Soto, José María Sánchez Gómez, Adalberto García Vallejo, Felipe
dc.subject.armarc.spa.fl_str_mv	Síndrome de Down Cromosoma humano 21
topic	Síndrome de Down Cromosoma humano 21 Down syndrome Human chromosome 21 No disyunción Epigenética Arquitectura cromatínica Genómica Región crítica del síndrome de Down Non-disjunction Epigenetics Chromatin architecture Genomics Down syndrome critical region
dc.subject.armarc.eng.fl_str_mv	Down syndrome Human chromosome 21
dc.subject.proposal.spa.fl_str_mv	No disyunción Epigenética Arquitectura cromatínica Genómica Región crítica del síndrome de Down
dc.subject.proposal.eng.fl_str_mv	Non-disjunction Epigenetics Chromatin architecture Genomics Down syndrome critical region
description	Análisis previos han identificado una región del cromosoma 21, conocida como región crítica del síndrome de Down (DSCR) en donde se localizan algunos genes cuya expresión modularía las principales características clínicas de este síndrome. En este sentido, existe poca información detallada sobre la arquitectura de la cromatina asociada con la DSCR. Objetivo: Obtener in silico, a partir de la evaluación de covariables genómicas contenidas en bases de datos públicas, una visión detallada de la estructura cromatina asociada con la DSCR
publishDate	2011
dc.date.issued.none.fl_str_mv	2011
dc.date.accessioned.none.fl_str_mv	2020-02-10T16:39:30Z
dc.date.available.none.fl_str_mv	2020-02-10T16:39:30Z
dc.type.spa.fl_str_mv	Artículo de revista
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dc.language.iso.eng.fl_str_mv	eng
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dc.relation.spa.fl_str_mv	Colombia Médica. Volumen 42, número 1, (Enero-Marzo de 2011); p. 26-38
dc.relation.citationendpage.none.fl_str_mv	38
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dc.relation.citationstartpage.none.fl_str_mv	26
dc.relation.citationvolume.none.fl_str_mv	42
dc.relation.cites.spa.fl_str_mv	Montoya Villegas, J. C., Soto, J., Satizábal Soto, J. M., Sánchez Gómez, A. y García Vallejo, F. (2011). Genomic study of the critical region of chromosome 21 associated to Down syndrome. Colombia Médica.42(1), 26-38. http://red.uao.edu.co//handle/10614/11850
dc.relation.ispartofjournal.spa.fl_str_mv	Colombia Médica Colombia médica
dc.relation.references.none.fl_str_mv	1. CanWeld MA, Honein MA, Yuskiv N, Xing J, Mai CT, Collins JS, et al. National estimates and race/ethnic-specific variation of selected birth defects in the United States, 1999- 2001. Birth Defects Res A Clin Mol Teratol. 2006; 76: 747-56. 2. Ramírez RE, Isaza C, Gutiérrez MI. La incidencia del síndrome de Down en Cali. Colomb Med. 1996; 27: 138-42. 3. García H, Salguero GA, Moreno J, Arteaga C, Giraldo A. Frecuencia de anomalías congénitas en el Instituto Materno Infantil de Bogotá. BiomEdica. 2003; 23: 161-72. 4. Turnpenny P, Ellard S. Elementos de genética médica. 13a ed. Barcelona; Elsevier; 2009. 5. Hernández D, Fisher EMC. Down syndrome genetics: unraveling a multifactorial disorder. Hum Mol Genet. 1996; 5: 1411-6. 6. Lamb NE, Hassold TJ. Nondis-junction. A view from the Ringside. N Engl J Med. 2004; 351: 1931-4. 7. Lamb NE, Yu K, Shaffer J, Feingold E, Sherman SL. Association between maternal age and meiotic recombination for trisomy 21. Am J Med Gen. 2005; 76: 91-9. 8. Gardiner K, Davisson M. The sequence of human chromosome 21 and implications for research into Down syndrome. Genome Biol. 2000; 1: reviews0002.1–0002.9 9. Montoya JC, Satizábal JM, García-Vallejo F, Sánchez A. Perspectiva y comprensión bioquímica del síndrome de Down. El Hombre y la Máquina 2008; 30:118-29. 10. Toyoda A, Noguchi H, Taylor TD, Ito T, Pletcher MT, Sakaki S, et al. Comparative genomic sequence analysis of the human Chromosome 21 Down syndrome critical region. Genome Res. 2002; 12: 1323-32. 11. Eggermann T, Schönherr N, Spengler S, Jäger S, Denecke B, Binder G, et al. Identification of a 21q22 duplication in a Silver-Russell syndrome patient further narrows down the Down syndrome critical region. Am J Med Genet A. 2010; 152A: 356-9. 12. Ronan A, Fagan K, Christie L, Conroy J, Nowak NJ, Turner G. Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region. J Med Genet. 2007; 44: 448-51. 13. Kollmann M, Sourjik V. In Silico biology: From simulation to understanding current biology. Curr Biol. 2007; 17: 132-4. 14. Bönisch C, Nieratschker SM, Orfanos NK, Hake SB. Chromatin proteomics and epigenetic regulatory circuits. Expert Rev Proteomics. 2008; 5: 105-19. 15. Feinberg AP. Phenotypic plasticity and the epigenetics of human disease. Nature. 2007; 447: 433-40. 16. Leeuwen FV, Steensel BV. Histone modifications: from genome-wide maps to functional insights. Genome Biol. 2005; 6: 113-19. 17. Ozsolak F, Song JS, Liu XS, Fisher DE. High-throughput mapping of the chromatin structure of human promoters. Nat Biotechnol. 2007; 25: 244-8. 18. Zhang Y, Rohde C, Tierling S, Jurkowski TP, Bock C. DNA methylation analysis of chromosome 21 gene promoters at single base pair and single allele resolution. PLoS Genet 2009; 5: e1000438-e100.1371. 19. Song HJ, Park J, Seo SR, Kim J, Paik SR, Chung KC. Down syndrome critical region 2 protein inhibits the transcriptional activity of peroxisome proliferator-activated receptor b in HEK293 cells. Biochem Biophys Res Commun. 2008; 376: 478-82. 20. Bock C, Paulsen M, Tierling S, Mikeska T, Lengauer T, Walter J. CpG Island methylation in human lymphocytes is highly correlated with DNA sequence, repeats, and predicted DNA Structure. PLoS Genet. 2006; 2: e26. 21. Sherman SL, Takaesu N, Freeman SB, Grantham M, Phillips C, Blackston RD. Trisomy 21: association between reduced recombination and nondisjunction. Am J Hum Genet. 1991; 49: 608-20. 22. Tanzi R, Watkins PC, Stewart GD, Wexler NS, Gusella JF, Haines JL. A genetic linkage map of human chromosome 21: analysis of recombination as a function of sex and age. Am J Hum Genet. 1992; 50: 551-8. 23. Sherman SL, Lamb NE, Feingold E. Relationship of recombination patterns and maternal age among non-disjoined chromosomes 21. Biochem Soc Trans. 2006; 34: 578-80. 24. Ghosh S, Feingold E, Chakraborty S, Dey SK. Telomere length is associated with types of chromosome 21 nondisjunction: a new insight into the maternal age effect on Down syndrome birth. Hum Genet. 2010; 10.1007/s00439- 009-0785-8. 25. Saran NG, Pletcher MT, Natale JE, Cheng Y, Reeves RH. Global disruption of the cerebellar transcriptome in a Down syndrome mouse model. Hum Mol Genet. 2003; 12: 2013-9.
dc.rights.spa.fl_str_mv	Derechos Reservados - Universidad Autónoma de Occidente
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spelling	Montoya Villegas, Julio César30731facfc970f7c063315080a1b1cfeSoto, Juliana7cab3caa411824c95d1a89c00146a57cSatizábal Soto, José Maríaaf3af00699c79cd1089ce5b3c1bcebe0Sánchez Gómez, Adalberto1f3107724e89e5074e2781839f93dbe7García Vallejo, Felipe4ec19dfd5067ff1a0ecbe8cd3c4bdfb2Universidad Autónoma de Occidente. Calle 25 115-85. Km 2 vía Cali-Jamundí2020-02-10T16:39:30Z2020-02-10T16:39:30Z201116579534http://red.uao.edu.co//handle/10614/11850Análisis previos han identificado una región del cromosoma 21, conocida como región crítica del síndrome de Down (DSCR) en donde se localizan algunos genes cuya expresión modularía las principales características clínicas de este síndrome. En este sentido, existe poca información detallada sobre la arquitectura de la cromatina asociada con la DSCR. Objetivo: Obtener in silico, a partir de la evaluación de covariables genómicas contenidas en bases de datos públicas, una visión detallada de la estructura cromatina asociada con la DSCRPrevious reports have identified a region of chromosome 21 known as Down ayndrome critical region (DSCR) in which the expression of some genes would modulate the main clinical characteristics of this pathology. In this sense, there is currently limited information on the architecture of the DSCR associatedapplication/pdf13 páginasengUniversidad del ValleColombia Médica. Volumen 42, número 1, (Enero-Marzo de 2011); p. 26-383812642Montoya Villegas, J. C., Soto, J., Satizábal Soto, J. M., Sánchez Gómez, A. y García Vallejo, F. (2011). Genomic study of the critical region of chromosome 21 associated to Down syndrome. Colombia Médica.42(1), 26-38. http://red.uao.edu.co//handle/10614/11850Colombia MédicaColombia médica1. CanWeld MA, Honein MA, Yuskiv N, Xing J, Mai CT, Collins JS, et al. National estimates and race/ethnic-specific variation of selected birth defects in the United States, 1999- 2001. Birth Defects Res A Clin Mol Teratol. 2006; 76: 747-56.2. Ramírez RE, Isaza C, Gutiérrez MI. La incidencia del síndrome de Down en Cali. Colomb Med. 1996; 27: 138-42.3. García H, Salguero GA, Moreno J, Arteaga C, Giraldo A. Frecuencia de anomalías congénitas en el Instituto Materno Infantil de Bogotá. BiomEdica. 2003; 23: 161-72.4. Turnpenny P, Ellard S. Elementos de genética médica. 13a ed. Barcelona; Elsevier; 2009.5. Hernández D, Fisher EMC. Down syndrome genetics: unraveling a multifactorial disorder. Hum Mol Genet. 1996; 5: 1411-6.6. Lamb NE, Hassold TJ. Nondis-junction. A view from the Ringside. N Engl J Med. 2004; 351: 1931-4.7. Lamb NE, Yu K, Shaffer J, Feingold E, Sherman SL. Association between maternal age and meiotic recombination for trisomy 21. Am J Med Gen. 2005; 76: 91-9.8. Gardiner K, Davisson M. The sequence of human chromosome 21 and implications for research into Down syndrome. Genome Biol. 2000; 1: reviews0002.1–0002.99. Montoya JC, Satizábal JM, García-Vallejo F, Sánchez A. Perspectiva y comprensión bioquímica del síndrome de Down. El Hombre y la Máquina 2008; 30:118-29.10. Toyoda A, Noguchi H, Taylor TD, Ito T, Pletcher MT, Sakaki S, et al. Comparative genomic sequence analysis of the human Chromosome 21 Down syndrome critical region. Genome Res. 2002; 12: 1323-32.11. Eggermann T, Schönherr N, Spengler S, Jäger S, Denecke B, Binder G, et al. Identification of a 21q22 duplication in a Silver-Russell syndrome patient further narrows down the Down syndrome critical region. Am J Med Genet A. 2010; 152A: 356-9.12. Ronan A, Fagan K, Christie L, Conroy J, Nowak NJ, Turner G. Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region. J Med Genet. 2007; 44: 448-51.13. Kollmann M, Sourjik V. In Silico biology: From simulation to understanding current biology. Curr Biol. 2007; 17: 132-4.14. Bönisch C, Nieratschker SM, Orfanos NK, Hake SB. Chromatin proteomics and epigenetic regulatory circuits. Expert Rev Proteomics. 2008; 5: 105-19.15. Feinberg AP. Phenotypic plasticity and the epigenetics of human disease. Nature. 2007; 447: 433-40.16. Leeuwen FV, Steensel BV. Histone modifications: from genome-wide maps to functional insights. Genome Biol. 2005; 6: 113-19.17. Ozsolak F, Song JS, Liu XS, Fisher DE. High-throughput mapping of the chromatin structure of human promoters. Nat Biotechnol. 2007; 25: 244-8.18. Zhang Y, Rohde C, Tierling S, Jurkowski TP, Bock C. DNA methylation analysis of chromosome 21 gene promoters at single base pair and single allele resolution. PLoS Genet 2009; 5: e1000438-e100.1371.19. Song HJ, Park J, Seo SR, Kim J, Paik SR, Chung KC. Down syndrome critical region 2 protein inhibits the transcriptional activity of peroxisome proliferator-activated receptor b in HEK293 cells. Biochem Biophys Res Commun. 2008; 376: 478-82.20. Bock C, Paulsen M, Tierling S, Mikeska T, Lengauer T, Walter J. CpG Island methylation in human lymphocytes is highly correlated with DNA sequence, repeats, and predicted DNA Structure. PLoS Genet. 2006; 2: e26.21. Sherman SL, Takaesu N, Freeman SB, Grantham M, Phillips C, Blackston RD. Trisomy 21: association between reduced recombination and nondisjunction. Am J Hum Genet. 1991; 49: 608-20.22. Tanzi R, Watkins PC, Stewart GD, Wexler NS, Gusella JF, Haines JL. A genetic linkage map of human chromosome 21: analysis of recombination as a function of sex and age. Am J Hum Genet. 1992; 50: 551-8.23. Sherman SL, Lamb NE, Feingold E. Relationship of recombination patterns and maternal age among non-disjoined chromosomes 21. Biochem Soc Trans. 2006; 34: 578-80.24. Ghosh S, Feingold E, Chakraborty S, Dey SK. Telomere length is associated with types of chromosome 21 nondisjunction: a new insight into the maternal age effect on Down syndrome birth. Hum Genet. 2010; 10.1007/s00439- 009-0785-8.25. Saran NG, Pletcher MT, Natale JE, Cheng Y, Reeves RH. Global disruption of the cerebellar transcriptome in a Down syndrome mouse model. Hum Mol Genet. 2003; 12: 2013-9.Derechos Reservados - Universidad Autónoma de Occidentehttps://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccessAtribución-NoComercial-SinDerivadas 4.0 Internacional (CC BY-NC-ND 4.0)http://purl.org/coar/access_right/c_abf2Genomic study of the critical region of chromosome 21 associated to Down syndromeEstudio genómico de la región crítica del cromosoma 21 asociada con el síndrome de DownArtículo de revistahttp://purl.org/coar/resource_type/c_6501http://purl.org/coar/resource_type/c_2df8fbb1Textinfo:eu-repo/semantics/articlehttp://purl.org/redcol/resource_type/ARTREFinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/version/c_970fb48d4fbd8a85Síndrome de DownCromosoma humano 21Down syndromeHuman chromosome 21No disyunciónEpigenéticaArquitectura cromatínicaGenómicaRegión crítica del síndrome de DownNon-disjunctionEpigeneticsChromatin architectureGenomicsDown syndrome critical regionPublicationTEXTA0237_Genomic study of the critical region of chromosome 21 associated to Down Syndrome.pdf.txtA0237_Genomic study of the critical region of chromosome 21 associated to Down Syndrome.pdf.txtExtracted texttext/plain42656https://dspace7-uao.metacatalogo.com/bitstreams/e225d5af-b60d-401e-ad81-b61ece706be2/downloadb15101df5f8b9b6d87376a32c8fda2b0MD56THUMBNAILA0237_Genomic study of the critical region of chromosome 21 associated to Down Syndrome.pdf.jpgA0237_Genomic study of the critical region of chromosome 21 associated to Down Syndrome.pdf.jpgGenerated Thumbnailimage/jpeg15282https://dspace7-uao.metacatalogo.com/bitstreams/72f54bde-3b04-4a7e-9759-df841040595b/download6867e05d2917011eae9ace3533907f35MD57ORIGINALA0237_Genomic study of the critical region of chromosome 21 associated to Down Syndrome.pdfA0237_Genomic study of the critical region of chromosome 21 associated to Down Syndrome.pdfTexto archivo completo del artículo de revista, PDFapplication/pdf6759760https://dspace7-uao.metacatalogo.com/bitstreams/1120bee1-85ae-4b10-9782-4369017ea160/download7a8c792f2359dbd2d1d6bcfbbb323ea8MD51CC-LICENSElicense_rdflicense_rdfapplication/rdf+xml; charset=utf-8805https://dspace7-uao.metacatalogo.com/bitstreams/979c0b2b-1a3f-4816-a646-da62c1804902/download4460e5956bc1d1639be9ae6146a50347MD52LICENSElicense.txtlicense.txttext/plain; charset=utf-81665https://dspace7-uao.metacatalogo.com/bitstreams/39e0b3b6-0cb3-4a85-abfb-ecade755effc/download20b5ba22b1117f71589c7318baa2c560MD5310614/11850oai:dspace7-uao.metacatalogo.com:10614/118502024-01-19 16:22:12.056https://creativecommons.org/licenses/by-nc-nd/4.0/Derechos Reservados - Universidad Autónoma de Occidenteopen.accesshttps://dspace7-uao.metacatalogo.comRepositorio UAOrepositorio@uao.edu.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

Genomic study of the critical region of chromosome 21 associated to Down syndrome

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