{"id":7146,"date":"2020-11-30T10:13:54","date_gmt":"2020-11-30T10:13:54","guid":{"rendered":"http:\/\/www.sci.muni.cz\/ofiz\/?p=7146"},"modified":"2020-11-30T10:13:56","modified_gmt":"2020-11-30T10:13:56","slug":"mutations-in-grk2-cause-jeune-syndrome-by-impairing-hedgehog-and-canonical-wnt-signaling-2","status":"publish","type":"post","link":"https:\/\/ueb1.sci.muni.cz\/ofiz\/en\/mutations-in-grk2-cause-jeune-syndrome-by-impairing-hedgehog-and-canonical-wnt-signaling-2\/","title":{"rendered":"Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling"},"content":{"rendered":"\n<h5>Mutations in genes affecting primary cilia cause ciliopathies, a diverse group of disorders often affecting skeletal development. This includes Jeune syndrome or asphyxiating thoracic dystrophy (ATD), an autosomal recessive skeletal disorder. Unraveling the responsible molecular pathology helps illuminate mechanisms responsible for functional primary cilia.<\/h5>\n\n\n<style>#kt-layout-id_806744-e2 > .kt-row-column-wrap{align-content:start;}:where(#kt-layout-id_806744-e2 > .kt-row-column-wrap) > .wp-block-kadence-column{justify-content:start;}#kt-layout-id_806744-e2 > .kt-row-column-wrap{column-gap:var(--global-kb-gap-md, 2rem);row-gap:var(--global-kb-gap-md, 2rem);padding-top:var( --global-kb-row-default-top, 25px );padding-bottom:var( --global-kb-row-default-bottom, 25px );padding-top:0px;padding-bottom:0px;grid-template-columns:repeat(2, minmax(0, 1fr));}#kt-layout-id_806744-e2 > .kt-row-layout-overlay{opacity:0.30;}@media all and (max-width: 1024px){#kt-layout-id_806744-e2 > .kt-row-column-wrap{grid-template-columns:repeat(2, minmax(0, 1fr));}}@media all and (max-width: 767px){#kt-layout-id_806744-e2 > .kt-row-column-wrap{grid-template-columns:minmax(0, 1fr);}}<\/style>\n<div class=\"wp-block-kadence-rowlayout alignnone\"><div id=\"kt-layout-id_806744-e2\" class=\"kt-row-layout-inner  kt-layout-id_806744-e2\"><div class=\"kt-row-column-wrap kt-has-2-columns kt-gutter-default kt-v-gutter-default kt-row-valign-top kt-row-layout-equal kt-tab-layout-inherit kt-m-colapse-left-to-right kt-mobile-layout-row\"><style>.kadence-column_c18ca5-47 > .kt-inside-inner-col{border-top-width:0px;border-right-width:0px;border-bottom-width:0px;border-left-width:0px;}.kadence-column_c18ca5-47 > .kt-inside-inner-col,.kadence-column_c18ca5-47 > .kt-inside-inner-col:before{border-top-left-radius:0px;border-top-right-radius:0px;border-bottom-right-radius:0px;border-bottom-left-radius:0px;}.kadence-column_c18ca5-47 > .kt-inside-inner-col{column-gap:var(--global-kb-gap-sm, 1rem);}.kadence-column_c18ca5-47 > .kt-inside-inner-col{flex-direction:column;}.kadence-column_c18ca5-47 > .kt-inside-inner-col > .aligncenter{width:100%;}.kadence-column_c18ca5-47 > .kt-inside-inner-col:before{opacity:0.3;}.kadence-column_c18ca5-47{position:relative;}@media all and (max-width: 1024px){.kadence-column_c18ca5-47 > .kt-inside-inner-col{flex-direction:column;justify-content:center;}}@media all and (max-width: 767px){.kadence-column_c18ca5-47 > .kt-inside-inner-col{flex-direction:column;justify-content:center;}}<\/style>\n<div class=\"wp-block-kadence-column inner-column-1 kadence-column_c18ca5-47\"><div class=\"kt-inside-inner-col\">\n<h5 style=\"text-align: left;\">We identified two families with ATD caused by loss\u2010of\u2010function mutations in the gene encoding adrenergic receptor kinase 1 (<em>ADRBK1<\/em> or <em>GRK2<\/em>). <em>GRK2<\/em> cells from an affected individual homozygous for the p.R158* mutation resulted in loss of GRK2, and disrupted chondrocyte growth and differentiation in the cartilage growth plate. <em>GRK2<\/em> null cells displayed normal cilia morphology, yet loss of GRK2 compromised cilia\u2010based signaling of Hedgehog (Hh) pathway. Canonical Wnt signaling was also impaired, manifested as a failure to respond to Wnt ligand due to impaired phosphorylation of the Wnt co\u2010receptor LRP6.<\/h5>\n<h5 style=\"text-align: left;\">We have identified GRK2 as an essential regulator of skeletogenesis and demonstrate how both Hh and Wnt signaling mechanistically contribute to skeletal ciliopathies.<\/h5>\n<h5 style=\"text-align: left;\">\u00a0<\/h5>\n\n\n\n<p><\/p>\n<\/div><\/div>\n\n\n<style>.kadence-column_33f142-a2 > .kt-inside-inner-col{border-top-width:0px;border-right-width:0px;border-bottom-width:0px;border-left-width:0px;}.kadence-column_33f142-a2 > .kt-inside-inner-col,.kadence-column_33f142-a2 > .kt-inside-inner-col:before{border-top-left-radius:0px;border-top-right-radius:0px;border-bottom-right-radius:0px;border-bottom-left-radius:0px;}.kadence-column_33f142-a2 > .kt-inside-inner-col{column-gap:var(--global-kb-gap-sm, 1rem);}.kadence-column_33f142-a2 > .kt-inside-inner-col{flex-direction:column;}.kadence-column_33f142-a2 > .kt-inside-inner-col > .aligncenter{width:100%;}.kadence-column_33f142-a2 > .kt-inside-inner-col:before{opacity:0.3;}.kadence-column_33f142-a2{position:relative;}@media all and (max-width: 1024px){.kadence-column_33f142-a2 > .kt-inside-inner-col{flex-direction:column;justify-content:center;}}@media all and (max-width: 767px){.kadence-column_33f142-a2 > .kt-inside-inner-col{flex-direction:column;justify-content:center;}}<\/style>\n<div class=\"wp-block-kadence-column inner-column-2 kadence-column_33f142-a2\"><div class=\"kt-inside-inner-col\">\n<figure class=\"wp-block-image\"><img loading=\"lazy\" decoding=\"async\" width=\"590\" height=\"595\" src=\"https:\/\/www.sci.muni.cz\/ofiz\/wp-content\/uploads\/2020\/11\/colll_clanek2.jpg\" alt=\"\" class=\"wp-image-7130\" srcset=\"https:\/\/ueb1.sci.muni.cz\/ofiz\/wp-content\/uploads\/2020\/11\/colll_clanek2.jpg 590w, https:\/\/ueb1.sci.muni.cz\/ofiz\/wp-content\/uploads\/2020\/11\/colll_clanek2-150x150.jpg 150w, https:\/\/ueb1.sci.muni.cz\/ofiz\/wp-content\/uploads\/2020\/11\/colll_clanek2-297x300.jpg 297w, https:\/\/ueb1.sci.muni.cz\/ofiz\/wp-content\/uploads\/2020\/11\/colll_clanek2-60x60.jpg 60w\" sizes=\"auto, (max-width: 590px) 100vw, 590px\" \/><figcaption><strong> This study identifies GRK2 as a regulator of human skeletogenesis. Loss  of GRK2 deregulates the function of two major morphogens in the bone \u2010  Hedgehog and canonical Wnt signaling, and manifests in autosomal  recessive skeletal ciliopathy syndrome, asphyxiating thoracic dystrophy  or Jeune syndrome. <\/strong><\/figcaption><\/figure>\n\n\n\n<div style=\"height:22px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p><\/p>\n<\/div><\/div>\n<\/div><\/div><\/div>\n\n\n\n<div style=\"height:27px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h5><strong>Authors:<\/strong><\/h5>\n<h5>Michaela Bosakova, Sara P. Abraham, Alexandru Nita, <strong>Eva Hruba<\/strong>, <strong>Marcela Buchtova<\/strong>, Paige Taylor, Ivan Duran, Jorge Martin, Katerina Svozilova, Tomas Barta, Miroslav Varecha, Lukas Balek, Jiri Kohoutek, <strong>Tomasz Radaszkiewicz<\/strong>, Ganesh V Pusapati, <strong>Vitezslav Bryja<\/strong>, Eric T. Rush, Isabelle Thiffault, Deborah A Nickerson, Michael J Bamshad, Rajat Rohatgi, Daniel H Cohn, Deborah Krakow &amp; Pavel Krejci<\/h5>\n\n\n<style>.wp-block-kadence-advancedbtn.kb-btns_285729-e0{gap:var(--global-kb-gap-xs, 0.5rem );justify-content:flex-end;align-items:center;}.kt-btns_285729-e0 .kt-button{font-weight:normal;font-style:normal;}.kt-btns_285729-e0 .kt-btn-wrap-0{margin-right:5px;}.wp-block-kadence-advancedbtn.kt-btns_285729-e0 .kt-btn-wrap-0 .kt-button{color:#fff;background:#009900;border-color:#fff;box-shadow:1px 1px 2px 3px rgba(0, 0, 0, 0.2);}.wp-block-kadence-advancedbtn.kt-btns_285729-e0 .kt-btn-wrap-0 .kt-button:hover, .wp-block-kadence-advancedbtn.kt-btns_285729-e0 .kt-btn-wrap-0 .kt-button:focus{color:#ffffff;border-color:#444444;}.wp-block-kadence-advancedbtn.kt-btns_285729-e0 .kt-btn-wrap-0 .kt-button::before{display:none;}.wp-block-kadence-advancedbtn.kt-btns_285729-e0 .kt-btn-wrap-0 .kt-button:hover, .wp-block-kadence-advancedbtn.kt-btns_285729-e0 .kt-btn-wrap-0 .kt-button:focus{background:#444444;}<\/style>\n<div class=\"wp-block-kadence-advancedbtn kt-btn-align-right kt-btn-tablet-align-inherit kt-btn-mobile-align-inherit kt-btns-wrap kt-btns_285729-e0\"><div class=\"kt-btn-wrap kt-btn-wrap-0\"><a class=\"kt-button kt-btn-0-action kt-btn-size-standard kt-btn-style-basic kt-btn-svg-show-always kt-btn-has-text-true kt-btn-has-svg-false\" href=\"https:\/\/www.embopress.org\/doi\/full\/10.15252\/emmm.201911739\"><span class=\"kt-btn-inner-text\">Read the whole story<\/span><\/a><\/div><\/div>\n\n\n\n<div style=\"height:65px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<figure class=\"wp-block-image\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"621\" src=\"https:\/\/www.sci.muni.cz\/ofiz\/wp-content\/uploads\/2020\/11\/coll_clanek-1024x621.jpg\" alt=\"\" class=\"wp-image-7126\" srcset=\"https:\/\/ueb1.sci.muni.cz\/ofiz\/wp-content\/uploads\/2020\/11\/coll_clanek-1024x621.jpg 1024w, https:\/\/ueb1.sci.muni.cz\/ofiz\/wp-content\/uploads\/2020\/11\/coll_clanek-300x182.jpg 300w, https:\/\/ueb1.sci.muni.cz\/ofiz\/wp-content\/uploads\/2020\/11\/coll_clanek-768x466.jpg 768w, https:\/\/ueb1.sci.muni.cz\/ofiz\/wp-content\/uploads\/2020\/11\/coll_clanek-848x514.jpg 848w, https:\/\/ueb1.sci.muni.cz\/ofiz\/wp-content\/uploads\/2020\/11\/coll_clanek-560x340.jpg 560w, https:\/\/ueb1.sci.muni.cz\/ofiz\/wp-content\/uploads\/2020\/11\/coll_clanek-740x448.jpg 740w, https:\/\/ueb1.sci.muni.cz\/ofiz\/wp-content\/uploads\/2020\/11\/coll_clanek-370x224.jpg 370w, https:\/\/ueb1.sci.muni.cz\/ofiz\/wp-content\/uploads\/2020\/11\/coll_clanek.jpg 1373w\" sizes=\"auto, (max-width: 1024px) 100vw, 1024px\" \/><figcaption><strong>GRK2 is essential for skeletal growth plate development. <\/strong><br> <br> <strong>C<\/strong> Shortened long bones in the chicken wings injected with CMPD101. The right limb bud was injected with CMPD101, and the left one was left as a control. Note the shortened humerus (H), ulna (U), and radius (R) in the CMPD101-injected wing.   <br><br> <strong>E <\/strong>Alcian blue staining of the chicken limb bud micromasses treated with CMPD101. Note the gradual inhibition of the cartilage nodules with increasing concentration of CMPD101, quantified below. <br><br> <strong>F<\/strong> Alcian blue staining of the micromasses generated from Grk2+\/+ and Grk2-\/- NIH3T3 cells. Note the mildly weaker staining by alcian blue pH 2.5 and the nearly absent sulfation stained by alcian blue pH 1.0 in the Grk2-\/- micromasses. <\/figcaption><\/figure>\n","protected":false},"excerpt":{"rendered":"<p>Mutations in genes affecting primary cilia cause ciliopathies, a diverse group of disorders often affecting skeletal development. This includes Jeune syndrome or asphyxiating thoracic dystrophy (ATD), an autosomal recessive skeletal disorder. Unraveling the responsible molecular pathology helps illuminate mechanisms responsible &hellip; <a href=\"https:\/\/ueb1.sci.muni.cz\/ofiz\/en\/mutations-in-grk2-cause-jeune-syndrome-by-impairing-hedgehog-and-canonical-wnt-signaling-2\/\">Read More<\/a><\/p>\n","protected":false},"author":5,"featured_media":7126,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"kt_blocks_editor_width":"","_exactmetrics_skip_tracking":false,"_exactmetrics_sitenote_active":false,"_exactmetrics_sitenote_note":"","_exactmetrics_sitenote_category":0,"footnotes":""},"categories":[256],"tags":[322],"class_list":["post-7146","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-new-paper","tag-buchtova-lab-en"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.1.1 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling - Department of Animal Physiology and Immunology<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/ueb1.sci.muni.cz\/ofiz\/en\/mutations-in-grk2-cause-jeune-syndrome-by-impairing-hedgehog-and-canonical-wnt-signaling-2\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling - Department of Animal Physiology and Immunology\" \/>\n<meta property=\"og:description\" content=\"Mutations in genes affecting primary cilia cause ciliopathies, a diverse group of disorders often affecting skeletal development. 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