{"id":3730,"date":"2022-11-07T18:39:01","date_gmt":"2022-11-07T18:39:01","guid":{"rendered":"https:\/\/neuropediatoolbox.org\/?p=3730"},"modified":"2022-11-24T17:09:12","modified_gmt":"2022-11-24T17:09:12","slug":"cromatinopatias","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/en\/cromatinopatias\/","title":{"rendered":"Cromatinopat\u00edas."},"content":{"rendered":"\n<div id=\"wp-block-themeisle-blocks-accordion-a36c8f51\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/en.wikipedia.org\/wiki\/Heterochromatin\">Heterocromatina.<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full\"><img fetchpriority=\"high\" decoding=\"async\" width=\"850\" height=\"415\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-66.png\" alt=\"\" class=\"wp-image-3904\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-66.png 850w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-66-300x146.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-66-768x375.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-66-18x9.png 18w\" sizes=\"(max-width: 850px) 100vw, 850px\" \/><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/en.wikipedia.org\/wiki\/Euchromatin\">Eucromatina.<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"447\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-44-1024x447.png\" alt=\"\" class=\"wp-image-3731\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-44-1024x447.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-44-300x131.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-44-768x335.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-44-1536x670.png 1536w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-44-2048x894.png 2048w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-44-18x8.png 18w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-44-1568x684.png 1568w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><figcaption class=\"wp-element-caption\"><div id=\"zotpress-0a1606ce70cbc108b5678dab34941567\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span 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class=\"ZP_TARGET ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_URLWRAP ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_FORCENUM ZP_ATTR\"><\/span>\n        <span class=\"ZP_HIGHLIGHT ZP_ATTR\"><\/span>\n        <span class=\"ZP_POSTID ZP_ATTR\">3730<\/span>\n\t\t<span class=\"ZOTPRESS_PLUGIN_URL ZP_ATTR\">https:\/\/neuropediatoolkit.org\/wp-content\/plugins\/zotpress\/<\/span>\n\n\t\t<div class=\"zp-List loading\">\n\t\t\t<div class=\"zp-SEO-Content\">\n\t\t\t\t<span class=\"ZP_JSON ZP_ATTR\">%7B%22status%22%3A%22success%22%2C%22updateneeded%22%3Afalse%2C%22instance%22%3Afalse%2C%22meta%22%3A%7B%22request_last%22%3A0%2C%22request_next%22%3A0%2C%22used_cache%22%3Atrue%7D%2C%22data%22%3A%5B%7B%22key%22%3A%222W7DHEPU%22%2C%22library%22%3A%7B%22id%22%3A332710%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Alpsoy%20et%20al.%22%2C%22parsedDate%22%3A%222021-04%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BAlpsoy%20A%2C%20Sood%20S%2C%20Dykhuizen%20EC.%20At%20the%20Crossroad%20of%20Gene%20Regulation%20and%20Genome%20Organization%3A%20Potential%20Roles%20for%20ATP-Dependent%20Chromatin%20Remodelers%20in%20the%20Regulation%20of%20CTCF-Mediated%203D%20Architecture.%20Biology%20%5BInternet%5D.%202021%20Apr%20%5Bcited%202022%20Nov%207%5D%3B10%284%29%3A272.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttps%3A%5C%2F%5C%2Fwww.mdpi.com%5C%2F2079-7737%5C%2F10%5C%2F4%5C%2F272%26%23039%3B%26gt%3Bhttps%3A%5C%2F%5C%2Fwww.mdpi.com%5C%2F2079-7737%5C%2F10%5C%2F4%5C%2F272%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22At%20the%20Crossroad%20of%20Gene%20Regulation%20and%20Genome%20Organization%3A%20Potential%20Roles%20for%20ATP-Dependent%20Chromatin%20Remodelers%20in%20the%20Regulation%20of%20CTCF-Mediated%203D%20Architecture%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Aktan%22%2C%22lastName%22%3A%22Alpsoy%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Surbhi%22%2C%22lastName%22%3A%22Sood%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Emily%20C.%22%2C%22lastName%22%3A%22Dykhuizen%22%7D%5D%2C%22abstractNote%22%3A%22In%20higher%20order%20organisms%2C%20the%20genome%20is%20assembled%20into%20a%20protein-dense%20structure%20called%20chromatin.%20Chromatin%20is%20spatially%20organized%20in%20the%20nucleus%20through%20hierarchical%20folding%2C%20which%20is%20tightly%20regulated%20both%20in%20cycling%20cells%20and%20quiescent%20cells.%20Assembly%20and%20folding%20are%20not%20one-time%20events%20in%20a%20cell%5Cu2019s%20lifetime%3B%20rather%2C%20they%20are%20subject%20to%20dynamic%20shifts%20to%20allow%20changes%20in%20transcription%2C%20DNA%20replication%2C%20or%20DNA%20damage%20repair.%20Chromatin%20is%20regulated%20at%20many%20levels%2C%20and%20recent%20tools%20have%20permitted%20the%20elucidation%20of%20specific%20factors%20involved%20in%20the%20maintenance%20and%20regulation%20of%20the%20three-dimensional%20%283D%29%20genome%20organization.%20In%20this%20review%5C%2Fperspective%2C%20we%20aim%20to%20cover%20the%20potential%2C%20but%20relatively%20unelucidated%2C%20crosstalk%20between%203D%20genome%20architecture%20and%20the%20ATP-dependent%20chromatin%20remodelers%20with%20a%20specific%20focus%20on%20how%20the%20architectural%20proteins%20CTCF%20and%20cohesin%20are%20regulated%20by%20chromatin%20remodeling.%22%2C%22date%22%3A%222021%5C%2F4%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.3390%5C%2Fbiology10040272%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fwww.mdpi.com%5C%2F2079-7737%5C%2F10%5C%2F4%5C%2F272%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%222079-7737%22%2C%22language%22%3A%22en%22%2C%22collections%22%3A%5B%227ZJWGN9I%22%5D%2C%22dateModified%22%3A%222025-04-22T08%3A26%3A20Z%22%7D%7D%5D%7D<\/span>\n\n\t\t\t\t<div id=\"zp-ID-3730-332710-2W7DHEPU\" data-zp-author-date='Alpsoy-et-al.-2021-04' data-zp-date-author='2021-04-Alpsoy-et-al.' data-zp-date='2021-04' data-zp-year='2021' data-zp-itemtype='journalArticle' class=\"zp-Entry zpSearchResultsItem\">\n<div class=\"csl-bib-body\" style=\"line-height: 1.35; \">\n  <div class=\"csl-entry\" style=\"clear: left; \">\n    <div class=\"csl-left-margin\" style=\"float: left; padding-right: 0.5em; text-align: right; width: 1em;\">1.<\/div><div class=\"csl-right-inline\" style=\"margin: 0 .4em 0 1.5em;\">Alpsoy A, Sood S, Dykhuizen EC. At the Crossroad of Gene Regulation and Genome Organization: Potential Roles for ATP-Dependent Chromatin Remodelers in the Regulation of CTCF-Mediated 3D Architecture. Biology [Internet]. 2021 Apr [cited 2022 Nov 7];10(4):272. Available from: <a class='zp-ItemURL' href='https:\/\/www.mdpi.com\/2079-7737\/10\/4\/272'>https:\/\/www.mdpi.com\/2079-7737\/10\/4\/272<\/a><\/div>\n  <\/div>\n<\/div>\n\t\t\t\t<\/div><!-- .zp-Entry .zpSearchResultsItem -->\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n<\/figcaption><\/figure>\n<\/div>\n\n\n<div id=\"wp-block-themeisle-blocks-accordion-cef563a7\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Cromatinopat\u00edas.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<ul class=\"wp-block-list\">\n<li>DNA methylation.\n<ul class=\"wp-block-list\">\n<li>Writers (DNMTs). \n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK581652\/\">S\u00edndrome de Tatton-Brown-Rahman (DNMT3A). <\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK84112\/\">DNMT1 related disorder.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1443\/\">Distrofia muscular facioescapulohumeral (DNMT3B). <\/a><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Readers (MBDs). \n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1497\/\">MeCP2 related disorders (Rett). <\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK390803\/\">MBD5 haploinsufficiency.<\/a><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Erasers (TETs). <\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Histone modificators.\n\n\n\n\n<ul class=\"wp-block-list\">\n<li>Writers (HMTs, HATs). \n<ul class=\"wp-block-list\">\n<li>Metilaci\u00f3n. \n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK47079\/\">S\u00edndrome de Kleefstra (EHMT1). <\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1479\/\">S\u00edndrome de Sotos (NSD1).<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK580718\/\">S\u00edndrome de Wiedemann-Steiner (KMT2A). <\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK493766\/\">KMT2B related dystonia. <\/a><\/li>\n\n\n\n<li>S\u00edndrome de Kleefstra tipo 2 (KMT2C). <\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK62111\/\">S\u00edndrome de Kabuki (KMT2D). <\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK584549\/\">SETD1B-related neurodevelopmental disorder. <\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK148820\/\">EZH2-related overgrowth.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK540017\/\">EED-related overgrowth.<\/a><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Acetilaci\u00f3n.\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1526\/\">S\u00edndrome de Rubinstein-Taybi (CREBBP, EP300). <\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK114806\/\">KAT6B related disorders. <\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK24676\/\">S\u00edndrome de Koolen-de Vries (KANSL1). <\/a><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Erasers (HDMs, HDACs).\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK62111\/\">S\u00edndrome de Kabuki (KMD6A). <\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1104\/\">S\u00edndrome de Cornelia-de Lange (HDAC8).<\/a><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Chromatin structure and regulation.\n<ul class=\"wp-block-list\">\n<li>Chromatin remodellers.\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK327153\/\">S\u00edndrome de Baraitser-Winter (ACTB). <\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK131811\/\">S\u00edndrome de Coffin-Siris (ARID1A, ARID1B, ARID2, DPF2, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCE1). <\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/omim.org\/entry\/618779\">S\u00edndrome de Coffin-Siris tipo 11 (SMARCD1). <\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/omim.org\/entry\/619325\">S\u00edndrome de Coffin-Siris tipo 12 (BICRA). <\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1449\/\">S\u00edndrome de alfa-talasemia y discapacidad intelectual ligada al X (ATRX)<\/a><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Chromatin organization. \n<ul class=\"wp-block-list\">\n<li>Cohesin complex (cohesinopathies). \n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1104\/\">Cornelia de Lange spectrum disorders. <\/a><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Condensin complex.<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"559\" height=\"1024\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-46-559x1024.png\" alt=\"\" class=\"wp-image-3733\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-46-559x1024.png 559w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-46-164x300.png 164w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-46-768x1407.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-46-839x1536.png 839w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-46-1118x2048.png 1118w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-46-7x12.png 7w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-46-1568x2872.png 1568w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-46.png 2021w\" sizes=\"(max-width: 559px) 100vw, 559px\" \/><figcaption class=\"wp-element-caption\"><div 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id=\"zp-ID-3730-332710-GEJ4KYK5\" data-zp-author-date='Valencia-and-Pa\u0219ca-2022-02-01' data-zp-date-author='2022-02-01-Valencia-and-Pa\u0219ca' data-zp-date='2022-02-01' data-zp-year='2022' data-zp-itemtype='journalArticle' class=\"zp-Entry zpSearchResultsItem\">\n<div class=\"csl-bib-body\" style=\"line-height: 1.35; \">\n  <div class=\"csl-entry\" style=\"clear: left; \">\n    <div class=\"csl-left-margin\" style=\"float: left; padding-right: 0.5em; text-align: right; width: 1em;\">1.<\/div><div class=\"csl-right-inline\" style=\"margin: 0 .4em 0 1.5em;\">Valencia AM, Pa\u0219ca SP. Chromatin dynamics in human brain development and disease. Trends in Cell Biology [Internet]. 2022 Feb 1 [cited 2022 Nov 7];32(2):98\u2013101. 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