{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T22:33:16Z","timestamp":1791325996466,"version":"4.3.1"},"reference-count":19,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"6071","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Science"],"published-print":{"date-parts":[[2012,2,24]]},"abstract":"<jats:title>Distinguishing Ciliopathy<\/jats:title>\n                  <jats:p>\n                    Cilia were once thought to be evolutionary remnants, but structural defects reveal their importance in signaling pathways and human disease, such as Joubert syndrome. Either of the genes\n                    <jats:italic>TMEM138<\/jats:italic>\n                    and\n                    <jats:italic>TMEM216<\/jats:italic>\n                    can be found mutated in phenotypically indistinguishable ciliopathy patients. Interestingly, despite their lack of sequence homology, these genes have always been aligned in head-to-tail configuration during vertebrate evolution. The proteins expressed by these genes mark distinct tethered vesicles, which differentially carry ciliary proteins for assembly.\n                    <jats:bold>\n                      Lee\n                      <jats:italic>et al.<\/jats:italic>\n                    <\/jats:bold>\n                    (p.\n                    <jats:related-article xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"doi\" page=\"966\" related-article-type=\"in-this-issue\" vol=\"335\" xlink:href=\"10.1126\/science.1213506\">966<\/jats:related-article>\n                    , published online 26 January; see the Perspective by\n                    <jats:related-article xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"doi\" issue=\"6071\" page=\"930\" related-article-type=\"in-this-issue\" vol=\"335\" xlink:href=\"10.1126\/science.1219301\">\n                      <jats:bold>Chakravarti and Kapoor<\/jats:bold>\n                    <\/jats:related-article>\n                    ) show that the coordinated expression of these adjacent genes depends upon a coevolved regulatory element in the noncoding intergenic region, which thus integrates the roles of both gene products. This discovery explains not only the indistinguishable pathogenesis of the patients' genotypes but also how the evolutionary clustering of genes unrelated in sequence may correlate with coordinated control of expression and function.\n                  <\/jats:p>","DOI":"10.1126\/science.1213506","type":"journal-article","created":{"date-parts":[[2012,1,26]],"date-time":"2012-01-26T22:13:07Z","timestamp":1327615987000},"page":"966-969","source":"Crossref","is-referenced-by-count":88,"title":["Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus"],"prefix":"10.1126","volume":"335","author":[{"given":"Jeong Ho","family":"Lee","sequence":"first","affiliation":[{"name":"Neurogenetics Laboratory, Howard Hughes Medical Institute (HHMI), Department of Neurosciences, University of California, San Diego, CA, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer L.","family":"Silhavy","sequence":"additional","affiliation":[{"name":"Neurogenetics Laboratory, Howard Hughes Medical Institute (HHMI), Department of Neurosciences, University of California, San Diego, CA, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ji Eun","family":"Lee","sequence":"additional","affiliation":[{"name":"Neurogenetics Laboratory, Howard Hughes Medical Institute (HHMI), Department of Neurosciences, University of California, San Diego, CA, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lihadh","family":"Al-Gazali","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Thomas","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique, INSERM U781, H\u00f4pital Necker-Enfants Malades, Universit\u00e9 Paris Descartes, Paris, 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