{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,25]],"date-time":"2026-10-25T01:29:51Z","timestamp":1792891791891,"version":"4.5.0"},"reference-count":39,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2020,9,21]],"date-time":"2020-09-21T00:00:00Z","timestamp":1600646400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100009543","name":"Pontificia Universidad Javeriana","doi-asserted-by":"publisher","award":["ID9369"],"award-info":[{"award-number":["ID9369"]}],"id":[{"id":"10.13039\/501100009543","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Analysis of patients with chromosomal abnormalities, including Turner syndrome and Klinefelter syndrome, has highlighted the importance of X\u2010linked gene dosage as a contributing factor for disease susceptibility. Escape from X\u2010inactivation and X\u2010linked imprinting can result in transcriptional differences between normal men and women as well as in patients with sex chromosome abnormalities.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>To identify differentially expressed genes among patients with Turner (45,X) and Klinefelter (46,XXY) syndrome using bioinformatics analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methodology<\/jats:title><jats:p>Two gene expression data sets of Turner (45,X) and Klinefelter syndrome (47,XXY) were obtained from the Gene Omnibus Expression (GEO) database of the National Center for Biotechnology Information (NCBI). Statistical analysis was performed using R Bioconductor libraries. Differentially expressed genes (DEGs) were determined using significance analysis of microarray (SAM). The functional annotation of the DEGs was performed with DAVID v6.8 (The Database for Annotation, Visualization, and Integrated Discovery).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>There are no genes over\u2010expressed simultaneously in both diseases. However, when crossing the list of under\u2010expressed genes for 45,X cells and the list of over\u2010expressed genes for 47,XXY cells, there are 16 common genes: SLC25A6, AKAP17A, ASMTL, KDM5C, KDM6A, ATRX, CSF2RA, DHRSX, CD99, ZBED1, EIF1AX, MVB12B, SMC1A, P2RY8, DOCK7, DDX3X, eight of which are involved in the regulation of gene expression by epigenetic mechanisms, regulation of splicing processes and protein synthesis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Of the 16 identified as under\u2010expressed in 45,X cells and over\u2010expressed in 47,XXY cells, 14 are located in X chromosome and 2 in autosomal chromosome; 8 of these genes are involved in the regulation of gene expression: 5 genes are related to epigenetic mechanisms, 2 in regulation of splicing processes, and 1 in the protein synthesis process. Our results are limited by it being the product of a bioinformatic analysis from mRNA isolated from whole blood, this makes necessary further exploration of the relationships between these genes and Turner syndrome and Klinefelter syndrome in the future.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1503","type":"journal-article","created":{"date-parts":[[2020,9,22]],"date-time":"2020-09-22T00:57:48Z","timestamp":1600736268000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Identification of common differentially expressed genes in Turner (45,X) and Klinefelter (47,XXY) syndromes using bioinformatics analysis"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4900-4948","authenticated-orcid":false,"given":"Mar\u00eda Carolina","family":"Manotas","sequence":"first","affiliation":[{"name":"Institute of Human Genetics. Faculty of Medicine Pontificia Universidad Javeriana  Bogot\u00e1 Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3433-272X","authenticated-orcid":false,"given":"Juan Camilo","family":"Calder\u00f3n","sequence":"additional","affiliation":[{"name":"Department of Statistics Faculty of Science Universidad Nacional de Colombia Ciudad Universitaria  Bogot\u00e1 Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9325-9529","authenticated-orcid":false,"given":"Liliana","family":"L\u00f3pez-Kleine","sequence":"additional","affiliation":[{"name":"Department of Statistics Faculty of Science Universidad Nacional de Colombia Ciudad Universitaria  Bogot\u00e1 Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1005-2210","authenticated-orcid":false,"given":"Fernando","family":"Su\u00e1rez-Obando","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics. Faculty of Medicine Pontificia Universidad Javeriana  Bogot\u00e1 Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0826-6191","authenticated-orcid":false,"given":"Olga M.","family":"Moreno","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics. Faculty of Medicine Pontificia Universidad Javeriana  Bogot\u00e1 Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8528-4433","authenticated-orcid":false,"given":"Adriana","family":"Rojas","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics. Faculty of Medicine Pontificia Universidad Javeriana  Bogot\u00e1 Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,9,21]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.12816\/\u200b0006086"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1201\/9780203833445"},{"key":"e_1_2_8_4_1","volume-title":"Epigenetics","author":"Allis D.C.","year":"2015"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s1314\u200b8-018-0477-0"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.12688\/\u200bf1000\u200bresea\u200brch.16747.1"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s1302\u200b3-018-0976-2"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1371\/journ\u200bal.pgen.1003489"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.4238\/2013.March.13.13"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/natur\u200be03479"},{"key":"e_1_2_8_11_1","unstructured":"Cheng C. Zhou J. &Bondy C.(2014).Gene Expression Profiling in 45X Turner Syndrome patients. Retrieved fromhttps:\/\/www.ncbi.nlm.nih.gov\/geo\/query\/\u200bacc.cgi?acc=GSE46687"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/gene.2009.37"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2019.00219"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2567.2010.03245.x"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tins.2020.05.003"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-17-0430"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1210\/er.2017-00212"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2012-2382"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2008.211"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioin\u200bforma\u200btics\/18.suppl_1.s96"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioin\u200bforma\u200btics\/bts251"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.27270"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.11.906"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.chc.2007.02.004"},{"issue":"3","key":"e_1_2_8_25_1","first-page":"405","article-title":"Turner syndrome: Diagnosis and management","volume":"76","author":"Morgan T.","year":"2007","journal-title":"American Family Physician"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/s4156\u200b4-019-0367-z"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/s1366\u200b8-015-0143-5"},{"key":"e_1_2_8_28_1","volume-title":"R: A language and environment for statistical computing","author":"R Foundation for Statistical Computing","year":"2018"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.18028\u200b89115"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1086\/303039"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.23701"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/s4159\u200b8-018-31780\u200b-0"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep3\u200b4220"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.09106\u200b2498"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.4161\/epi.27806"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2020.00104"},{"key":"e_1_2_8_37_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.19100\u200b03117"},{"key":"e_1_2_8_38_1","doi-asserted-by":"publisher","DOI":"10.1093\/molbe\u200bv\/mst148"},{"key":"e_1_2_8_39_1","unstructured":"Zitzmann M. Bongers R. Werler S. Bogdanova N. Wistuba J. Kliesch S. \u2026T\u00fcttelmann F.(2018).Gene expression data from whole blood of Klinefelter Syndrome patients compared to male and female controls. Retrieved fromhttps:\/\/www.ncbi.nlm.nih.gov\/geo\/query\/\u200bacc.cgi?acc=GSE42331"},{"key":"e_1_2_8_40_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2014-2780"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1503","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1503","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1503","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,21]],"date-time":"2024-02-21T11:57:17Z","timestamp":1708516637000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1503"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9,21]]},"references-count":39,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2020,11]]}},"alternative-id":["10.1002\/mgg3.1503"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1503","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,9,21]]},"assertion":[{"value":"2020-04-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-08-30","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-09-21","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1503"}}