{"id":20358,"date":"2026-04-09T07:44:17","date_gmt":"2026-04-09T06:44:17","guid":{"rendered":"https:\/\/cabd.es\/investigation\/departments\/regulacion-genica-y-morfogenesis\/dr-martin-franke\/"},"modified":"2026-05-22T10:39:33","modified_gmt":"2026-05-22T09:39:33","slug":"dr-martin-franke","status":"publish","type":"page","link":"https:\/\/cabd.es\/en\/investigation\/departments\/genome-dynamics\/dr-martin-franke\/","title":{"rendered":"Dr Martin Franke"},"content":{"rendered":"<p>[et_pb_section bb_built=&#8221;1&#8243; fullwidth=&#8221;on&#8221; _builder_version=&#8221;4.16&#8243; global_colors_info=&#8221;{}&#8221; next_background_color=&#8221;#000000&#8243;][et_pb_fullwidth_header background_overlay_color=&#8221;rgba(31,31,31,0.56)&#8221; subhead_font_color=&#8221;#bebebe&#8221; _builder_version=&#8221;4.27.6&#8243; title_font=&#8221;Montserrat|700|||||||&#8221; title_text_color=&#8221;#ffffff&#8221; title_font_size=&#8221;45px&#8221; content_font=&#8221;Montserrat|600|||||||&#8221; 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button_two_border_width__hover_enabled=&#8221;off&#8221; button_one_border_color__hover_enabled=&#8221;off&#8221; button_two_border_color__hover_enabled=&#8221;off&#8221; button_one_border_radius__hover_enabled=&#8221;off&#8221; button_two_border_radius__hover_enabled=&#8221;off&#8221; button_one_letter_spacing__hover_enabled=&#8221;off&#8221; button_two_letter_spacing__hover_enabled=&#8221;off&#8221; button_one_bg_color__hover_enabled=&#8221;off&#8221; button_two_bg_color__hover_enabled=&#8221;off&#8221;]<\/p>\n<p style=\"text-align: left;\">Genome Dynamics<\/p>\n<h1 style=\"text-align: left;\">Cis-regulatory landscape dynamics in development and disease<\/h1>\n<p>[\/et_pb_fullwidth_header][\/et_pb_section][et_pb_section bb_built=&#8221;1&#8243; _builder_version=&#8221;4.16&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221; prev_background_color=&#8221;#000000&#8243;][et_pb_row column_structure=&#8221;1_4,3_4&#8243; _builder_version=&#8221;4.16&#8243; _module_preset=&#8221;default&#8221; 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header_3_text_shadow_blur_strength_tablet=&#8221;1px&#8221; header_4_text_shadow_horizontal_length_tablet=&#8221;0px&#8221; header_4_text_shadow_vertical_length_tablet=&#8221;0px&#8221; header_4_text_shadow_blur_strength_tablet=&#8221;1px&#8221; header_5_text_shadow_horizontal_length_tablet=&#8221;0px&#8221; header_5_text_shadow_vertical_length_tablet=&#8221;0px&#8221; header_5_text_shadow_blur_strength_tablet=&#8221;1px&#8221; header_6_text_shadow_horizontal_length_tablet=&#8221;0px&#8221; header_6_text_shadow_vertical_length_tablet=&#8221;0px&#8221; header_6_text_shadow_blur_strength_tablet=&#8221;1px&#8221; box_shadow_horizontal_tablet=&#8221;0px&#8221; box_shadow_vertical_tablet=&#8221;0px&#8221; box_shadow_blur_tablet=&#8221;40px&#8221; box_shadow_spread_tablet=&#8221;0px&#8221; global_colors_info=&#8221;{%22gcid-primary-color%22:%91%22header_text_color%22%93}&#8221;]<\/p>\n<h2 class=\"uk-heading-divider uk-margin-medium-bottom\">Summary\u00a0<\/h2>\n<hr \/>\n<p>&nbsp;<\/p>\n<div class=\"uk-section-default uk-section uk-padding-remove-top\">\n<div class=\"uk-container uk-container-small\">\n<div class=\"tm-grid-expand uk-child-width-1-1 uk-grid-margin uk-grid uk-grid-stack\">\n<div class=\"uk-first-column\">\n<div class=\"uk-panel uk-margin-remove-first-child uk-margin\">\n<div class=\"el-content uk-panel uk-margin-top\">\n<p><span style=\"font-size: 18px;\">Our research focuses on mechanisms of how genes are switched on and off at a particular tissue and at a precise time point. This spatio-temporal control of gene expression is crucial during embryonic development and a prerequisite for the generation of different cell types that built the animal body plan. Key regulators in this process are <\/span><em style=\"font-size: 18px;\">cis<\/em><span style=\"font-size: 18px;\">-regulatory elements, such as enhancers that act as switches in the genome to regulate gene expression and that constitute the regulatory landscapes of developmental genes. This regulatory information is organized by the three-dimensional (3D) chromatin structure in animal genomes that ensures the correct enhancer regulates its target gene.<\/span><\/p>\n<p>We aim at understanding the functional relationship between enhancers, gene expression, and 3D chromatin structure in an in vivo context, in particular zebrafish. Specifically, we apply CRISPR-Cas genome editing to dissect the role of 3D chromatin structure mediated by key architectural proteins, such as the DNA-binding factor CTCF, at a tissue-resolution level and within a whole organism (Figure 1). To do so, we combine epigenomic and transcriptomic approaches with single-cell experiments and chromosome-conformation-capture technologies to elucidate how 3D chromatin structure \u201cfeeds\u201d distinct cell stimuli into developmental and cell differentiation programs.<span style=\"font-size: 18px;\">\u00a0<\/span><span style=\"font-size: 18px;\">\u00a0<\/span><\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<p><img decoding=\"async\" class=\"wp-image-20355 aligncenter lazyload\" data-src=\"https:\/\/cabd.es\/wp-content\/uploads\/2026\/04\/Figure-1-website-Martin-Franke.png\" alt=\"\" width=\"722\" height=\"303\" src=\"data:image\/svg+xml;base64,PHN2ZyB3aWR0aD0iMSIgaGVpZ2h0PSIxIiB4bWxucz0iaHR0cDovL3d3dy53My5vcmcvMjAwMC9zdmciPjwvc3ZnPg==\" style=\"--smush-placeholder-width: 722px; --smush-placeholder-aspect-ratio: 722\/303;\" \/><\/p>\n<\/div>\n<\/div>\n<p><strong style=\"font-size: 18px;\">Figure 1<\/strong><span style=\"font-size: 18px;\">. a) Representative models of the 3D chromatin structure of the\u00a0<\/span><em style=\"font-size: 18px;\">ptch2\u00a0<\/em><span style=\"font-size: 18px;\">regulatory landscape in wild-type (WT) and\u00a0<\/span><em style=\"font-size: 18px;\">ctcf<\/em><span style=\"font-size: 18px;\">\u00a0knockout zebrafish embryos at 48 hours post-fertilisation (hpf). b) Whole-mount in situ hybridization of\u00a0<\/span><em style=\"font-size: 18px;\">ptch2\u00a0<\/em><span style=\"font-size: 18px;\">in wild-type and\u00a0<\/span><em style=\"font-size: 18px;\">ctcf<\/em><span style=\"font-size: 18px;\">\u00a0knockout zebrafish embryos at 48 hpf. (Franke et al., 2021, Nat. Commun.)<\/span><\/p>\n<div>\n<p>How enhancers and the 3D chromatin structure of our genome translate into function is crucial to understand human genetic diseases. Changes that affect the regulatory landscape of a gene can lead to gene misexpression, resulting in developmental defects or cancer (Franke et al., 2016,\u00a0<em>Nature<\/em>; Franke et al., 2022,\u00a0<em>AJHG<\/em>). Together with our collaboration partners, it is our aim to improve the diagnosis of patients with regulatory mutations. To do so, we apply chromosome conformation capture technologies in patient cells in order to trace changes in chromatin interactions and to identify candidate disease-causing genes and enhancers.<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>[\/et_pb_text][et_pb_divider show_divider=&#8221;off&#8221; _builder_version=&#8221;4.27.6&#8243; _module_preset=&#8221;d057b755-ffa8-4fcd-923c-c94b7c9a9123&#8243; global_colors_info=&#8221;{%22gcid-primary-color%22:%91%22color%22%93}&#8221;]<\/p>\n<p><\/p>\n<p>[\/et_pb_divider][et_pb_text _builder_version=&#8221;4.27.6&#8243; _module_preset=&#8221;dc6ab383-11a3-454b-8ba1-6554be6042b4&#8243; vertical_offset_tablet=&#8221;0&#8243; horizontal_offset_tablet=&#8221;0&#8243; z_index_tablet=&#8221;0&#8243; text_text_shadow_horizontal_length_tablet=&#8221;0px&#8221; text_text_shadow_vertical_length_tablet=&#8221;0px&#8221; text_text_shadow_blur_strength_tablet=&#8221;1px&#8221; link_text_shadow_horizontal_length_tablet=&#8221;0px&#8221; link_text_shadow_vertical_length_tablet=&#8221;0px&#8221; link_text_shadow_blur_strength_tablet=&#8221;1px&#8221; ul_text_shadow_horizontal_length_tablet=&#8221;0px&#8221; ul_text_shadow_vertical_length_tablet=&#8221;0px&#8221; ul_text_shadow_blur_strength_tablet=&#8221;1px&#8221; ol_text_shadow_horizontal_length_tablet=&#8221;0px&#8221; ol_text_shadow_vertical_length_tablet=&#8221;0px&#8221; ol_text_shadow_blur_strength_tablet=&#8221;1px&#8221; quote_text_shadow_horizontal_length_tablet=&#8221;0px&#8221; quote_text_shadow_vertical_length_tablet=&#8221;0px&#8221; quote_text_shadow_blur_strength_tablet=&#8221;1px&#8221; header_text_shadow_horizontal_length_tablet=&#8221;0px&#8221; header_text_shadow_vertical_length_tablet=&#8221;0px&#8221; header_text_shadow_blur_strength_tablet=&#8221;1px&#8221; header_2_text_shadow_horizontal_length_tablet=&#8221;0px&#8221; header_2_text_shadow_vertical_length_tablet=&#8221;0px&#8221; header_2_text_shadow_blur_strength_tablet=&#8221;1px&#8221; header_3_text_shadow_horizontal_length_tablet=&#8221;0px&#8221; header_3_text_shadow_vertical_length_tablet=&#8221;0px&#8221; header_3_text_shadow_blur_strength_tablet=&#8221;1px&#8221; header_4_text_shadow_horizontal_length_tablet=&#8221;0px&#8221; header_4_text_shadow_vertical_length_tablet=&#8221;0px&#8221; header_4_text_shadow_blur_strength_tablet=&#8221;1px&#8221; header_5_text_shadow_horizontal_length_tablet=&#8221;0px&#8221; header_5_text_shadow_vertical_length_tablet=&#8221;0px&#8221; header_5_text_shadow_blur_strength_tablet=&#8221;1px&#8221; header_6_text_shadow_horizontal_length_tablet=&#8221;0px&#8221; header_6_text_shadow_vertical_length_tablet=&#8221;0px&#8221; header_6_text_shadow_blur_strength_tablet=&#8221;1px&#8221; box_shadow_horizontal_tablet=&#8221;0px&#8221; box_shadow_vertical_tablet=&#8221;0px&#8221; box_shadow_blur_tablet=&#8221;40px&#8221; box_shadow_spread_tablet=&#8221;0px&#8221; global_colors_info=&#8221;{%22gcid-primary-color%22:%91%22header_text_color%22%93}&#8221;]<\/p>\n<h2 class=\"uk-heading-divider uk-margin-medium-bottom\"><a href=\"https:\/\/www.cabd.es\/en\/research_groups\/cis-regulatory-landscape-dynamics-in-development-and-disease\/five-relevant-publications-406.html\">Five relevant publications<\/a>\u00a0<\/h2>\n<hr \/>\n<p>&nbsp;<\/p>\n<div class=\"uk-section-default uk-section uk-padding-remove-top\">\n<div class=\"uk-container uk-container-small\">\n<div class=\"tm-grid-expand uk-child-width-1-1 uk-grid-margin uk-grid uk-grid-stack\">\n<div class=\"uk-first-column\">\n<div class=\"uk-panel uk-margin-remove-first-child uk-margin\">\n<div class=\"el-content uk-panel uk-margin-top\">\n<div class=\"uk-section-default uk-section uk-padding-remove-top\">\n<div class=\"uk-container uk-container-small\">\n<div class=\"tm-grid-expand uk-child-width-1-1 uk-grid-margin uk-grid uk-grid-stack\">\n<div class=\"uk-first-column\">\n<div class=\"uk-panel uk-margin-remove-first-child uk-margin\">\n<div class=\"el-content uk-panel uk-margin-top\">\n<ul>\n<li><u><strong>Franke M<\/strong><\/u>, Daly AF, Palmeira L, Tirosh A, Stigliano A, Trifan E, Faucz FR, Abboud D, Petrossians P, Tena JJ, et al.: Duplications disrupt chromatin architecture and rewire GPR101-enhancer communication in X-linked acrogigantism.\u00a0<strong>The American Journal of Human Genetics<\/strong>\u00a0(02\/2022), 109:553\u2013570.<\/li>\n<li><u><strong>Franke M<\/strong><\/u>, de la Calle-Mustienes, E., Neto, A., Almuedo-Castillo, M., Irastorza-Azcarate, I., Acemel, R. D., Tena, J. J., Santos-Pereira, J. M., &amp; G\u00f3mez-Skarmeta, J. L. (2021). CTCF knockout in zebrafish induces alterations in regulatory landscapes and developmental gene expression.\u00a0<strong>Nature Communications<\/strong>\u00a0(09\/2021) 12:1, 12(1), 1\u201319.\u00a0<a href=\"https:\/\/doi.org\/10.1038\/s41467-021-25604-5\" target=\"_blank\" rel=\"noopener\">https:\/\/doi.org\/10.1038\/s41467-021-25604-5<\/a><\/li>\n<li>Alexandra Despang, Robert Sch\u00f6pflin,\u00a0<u><strong>Martin Franke<\/strong><\/u>, Salaheddine Ali, Ivana Jerkovi\u0107, Christina Paliou, Wing-Lee Chan, Bernd Timmermann, Lars Wittler, Martin Vingron, Stefan Mundlos, Daniel M. Ibrahim: Functional dissection of the Sox9\u2013Kcnj2 locus identifies nonessential and instructive roles of TAD architecture.\u00a0<strong>Nature Genetics<\/strong>\u00a0(08\/2019); 51(8)., DOI:10.1038\/s41588-019-0466-z<\/li>\n<li><u><strong>Martin Franke<\/strong><\/u>, Jos\u00e9 Luis G\u00f3mez-Skarmeta: An evolutionary perspective of regulatory landscape dynamics in development and disease.\u00a0<strong>Current Opinion in Cell Biology<\/strong>\u00a0(07\/2018); 55., DOI:10.1016\/j.ceb.2018.06.009<\/li>\n<li><strong><u>Franke M<\/u><\/strong>, Ibrahim DM, Andrey G, Schwarzer W, Heinrich V, Sch\u00f6pflin R, Kraft K, Kempfer R, Jerkovi\u0107 I, Chan WL, Spielmann M, Bernd Timmermann, Wittler L, Kurth I, Cambiaso P, Zuffardi O, Houge G, Lambie L, Brancati F, Pombo A, Vingron M, Spitz F, Stefan Mundlos: Formation of new chromatin domains determines pathogenicity of genomic duplications.\u00a0<strong>Nature\u00a0<\/strong>(10\/2016); 538 (7624). DOI: 10.1038\/nature19800<\/li>\n<\/ul>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<p>[\/et_pb_text][et_pb_divider show_divider=&#8221;off&#8221; _builder_version=&#8221;4.27.6&#8243; _module_preset=&#8221;d057b755-ffa8-4fcd-923c-c94b7c9a9123&#8243; global_colors_info=&#8221;{%22gcid-primary-color%22:%91%22color%22%93}&#8221;]<\/p>\n<p><\/p>\n<p>[\/et_pb_divider][et_pb_text _builder_version=&#8221;4.27.6&#8243; _module_preset=&#8221;dc6ab383-11a3-454b-8ba1-6554be6042b4&#8243; vertical_offset_tablet=&#8221;0&#8243; horizontal_offset_tablet=&#8221;0&#8243; hover_enabled=&#8221;0&#8243; z_index_tablet=&#8221;0&#8243; text_text_shadow_horizontal_length_tablet=&#8221;0px&#8221; text_text_shadow_vertical_length_tablet=&#8221;0px&#8221; text_text_shadow_blur_strength_tablet=&#8221;1px&#8221; link_text_shadow_horizontal_length_tablet=&#8221;0px&#8221; link_text_shadow_vertical_length_tablet=&#8221;0px&#8221; link_text_shadow_blur_strength_tablet=&#8221;1px&#8221; ul_text_shadow_horizontal_length_tablet=&#8221;0px&#8221; ul_text_shadow_vertical_length_tablet=&#8221;0px&#8221; ul_text_shadow_blur_strength_tablet=&#8221;1px&#8221; ol_text_shadow_horizontal_length_tablet=&#8221;0px&#8221; ol_text_shadow_vertical_length_tablet=&#8221;0px&#8221; ol_text_shadow_blur_strength_tablet=&#8221;1px&#8221; quote_text_shadow_horizontal_length_tablet=&#8221;0px&#8221; quote_text_shadow_vertical_length_tablet=&#8221;0px&#8221; quote_text_shadow_blur_strength_tablet=&#8221;1px&#8221; header_text_shadow_horizontal_length_tablet=&#8221;0px&#8221; header_text_shadow_vertical_length_tablet=&#8221;0px&#8221; header_text_shadow_blur_strength_tablet=&#8221;1px&#8221; header_2_text_shadow_horizontal_length_tablet=&#8221;0px&#8221; header_2_text_shadow_vertical_length_tablet=&#8221;0px&#8221; header_2_text_shadow_blur_strength_tablet=&#8221;1px&#8221; header_3_text_shadow_horizontal_length_tablet=&#8221;0px&#8221; header_3_text_shadow_vertical_length_tablet=&#8221;0px&#8221; header_3_text_shadow_blur_strength_tablet=&#8221;1px&#8221; header_4_text_shadow_horizontal_length_tablet=&#8221;0px&#8221; header_4_text_shadow_vertical_length_tablet=&#8221;0px&#8221; header_4_text_shadow_blur_strength_tablet=&#8221;1px&#8221; header_5_text_shadow_horizontal_length_tablet=&#8221;0px&#8221; header_5_text_shadow_vertical_length_tablet=&#8221;0px&#8221; header_5_text_shadow_blur_strength_tablet=&#8221;1px&#8221; header_6_text_shadow_horizontal_length_tablet=&#8221;0px&#8221; header_6_text_shadow_vertical_length_tablet=&#8221;0px&#8221; header_6_text_shadow_blur_strength_tablet=&#8221;1px&#8221; box_shadow_horizontal_tablet=&#8221;0px&#8221; box_shadow_vertical_tablet=&#8221;0px&#8221; box_shadow_blur_tablet=&#8221;40px&#8221; box_shadow_spread_tablet=&#8221;0px&#8221; global_colors_info=&#8221;{}&#8221; sticky_enabled=&#8221;0&#8243;]<\/p>\n<h2 class=\"uk-heading-divider uk-margin-medium-bottom\">Lab members &amp; collaborators<\/h2>\n<h4><\/h4>\n<h4><\/h4>\n<h4>Associated Investigator<\/h4>\n<p style=\"padding-left: 40px;\">Dr. Martin Franke<\/p>\n<p>&nbsp;<\/p>\n<h4>Lab Manager<\/h4>\n<p style=\"padding-left: 40px;\">Dr. Sara Mar\u00eda Ortega Campos (shared position with Dr. Christina Paliou)<\/p>\n<p>&nbsp;<\/p>\n<h4>Research Assistant<\/h4>\n<p style=\"padding-left: 40px;\">Almudena Neva Alejo<\/p>\n<p>&nbsp;<\/p>\n<h4>PhD Student<\/h4>\n<p style=\"padding-left: 40px;\">Paula Soto Carmona<\/p>\n<p>&nbsp;<\/p>\n<h4>Alumni<\/h4>\n<p style=\"padding-left: 40px;\">Dr. Marta Moreno O\u00f1ate (PhD Student, co-supervised by Dr. Juan J. Tena)<br \/>Leon Schmitz (Erasmus+ Intern)<br \/>Manuel Dur\u00e1n Acosta (Master Student, co-supervised by Dr. Jos\u00e9 Mar\u00eda Santos Pereira)<\/p>\n<h4>Collaborators<\/h4>\n<p style=\"padding-left: 40px;\">Elisa de la Calle-Mustienes (CABD, Seville, Spain)<br \/>Dr. Juan Ram\u00f3n Mart\u00ednez-Morales (CABD, Seville, Spain)<br \/>Dr. Dario Lupi\u00e1\u00f1ez (CABD, Seville, Spain)<br \/>Dr. Juan J. Tena (CABD, Seville, Spain)<br \/>Dr. Adrian F. Daly (University of Li\u00e8ge, Li\u00e8ge, Belgium)<br \/>Dr. Giampaolo Trivellin (Humanitas Research Hospital, Milan, Italy)<br \/>Dr. Irene Delgado and Dr. Miguel Torres (CNIC, Madrid, Spain)<br \/>Dr. Cristina Gonz\u00e1lez Aguilera (Cabimer, Seville, Spain)<\/p>\n<p>[\/et_pb_text][et_pb_divider show_divider=&#8221;off&#8221; _builder_version=&#8221;4.27.6&#8243; _module_preset=&#8221;d057b755-ffa8-4fcd-923c-c94b7c9a9123&#8243; global_colors_info=&#8221;{%22gcid-primary-color%22:%91%22color%22%93}&#8221;]<\/p>\n<p><\/p>\n<p>[\/et_pb_divider][\/et_pb_column][\/et_pb_row][\/et_pb_section]<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Genome Dynamics Cis-regulatory landscape dynamics in development and disease Dr Martin FrankeResearcher Summary\u00a0 &nbsp; Our research focuses on mechanisms of how genes are switched on and off at a particular [&hellip;]<\/p>\n","protected":false},"author":3038,"featured_media":0,"parent":21588,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_et_pb_use_builder":"on","_et_pb_old_content":"","_et_gb_content_width":"","footnotes":""},"class_list":["post-20358","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/cabd.es\/en\/wp-json\/wp\/v2\/pages\/20358","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/cabd.es\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/cabd.es\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/cabd.es\/en\/wp-json\/wp\/v2\/users\/3038"}],"replies":[{"embeddable":true,"href":"https:\/\/cabd.es\/en\/wp-json\/wp\/v2\/comments?post=20358"}],"version-history":[{"count":16,"href":"https:\/\/cabd.es\/en\/wp-json\/wp\/v2\/pages\/20358\/revisions"}],"predecessor-version":[{"id":24287,"href":"https:\/\/cabd.es\/en\/wp-json\/wp\/v2\/pages\/20358\/revisions\/24287"}],"up":[{"embeddable":true,"href":"https:\/\/cabd.es\/en\/wp-json\/wp\/v2\/pages\/21588"}],"wp:attachment":[{"href":"https:\/\/cabd.es\/en\/wp-json\/wp\/v2\/media?parent=20358"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}