@article{oai:repo.qst.go.jp:00047307,
 author = {Ho, Lee Jeong and L, Silhavy Jennifer and Eun, Lee Ji and Al-Gazali, Lihadh and Thomas, Sophie and E, Davis Erica and L, Bielas Stephanie and J, Hill Kiley and Iannicelli, Miriam and Brancati, Francesco and B, Gabriel Stacey and Russ, Carsten and V, Logan Clare and Malik, Sharif Saghira and P, Bennett Christopher and Abe, Masumi and Hildebrandt, Friedhelm and H, Diplas Bill and Attié-Bitach, Tania and Katsanis, Nicholas and Rajab, Anna and Koul, Roshan and Sztriha, Laszlo and R, Waters Elizabeth and Ferro-Novick, Susan and Geoffrey, Woods C and A, Johnson Colin and Maria, Valente Enza and S, Zaki Maha and G, Gleeson Joseph and 安倍 真澄},
 issue = {6071},
 journal = {Science (New York, N.Y.)},
 month = {Feb},
 note = {Neighboring genes are often coordinately expressed within cis-regulatory modules, but evidence that nonparalogous genes share functions in mammals is lacking. Here, we report that mutation of either TMEM138 or TMEM216 causes a phenotypically indistinguishable human ciliopathy, Joubert syndrome. Despite a lack of sequence homology, the genes are aligned in a head-to-tail configuration and joined by chromosomal rearrangement at the amphibian-to-reptile evolutionary transition. Expression of the two genes is mediated by a conserved regulatory element in the noncoding intergenic region. Coordinated expression is important for their interdependent cellular role in vesicular transport to primary cilia. Hence, during vertebrate evolution of genes involved in ciliogenesis, nonparalogous genes were arranged to a functional gene cluster with shared regulatory elements.},
 title = {Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.},
 volume = {335},
 year = {2012}
}