Evolutionary Assembled cis-Regulatory Module at a Human Ciliopathy Locus

• Published in: Science (American Association for the Advancement of Science) Vol. 335; no. 6071; pp. 966 - 969
• Main Authors: Lee, Jeong Ho, Silhavy, Jennifer L., Lee, Ji Eun, Al-Gazali, Lihadh, Thomas, Sophie, Davis, Erica E., Bielas, Stephanie L., Hill, Kiley J., Iannicelli, Miriam, Brancati, Francesco, Gabriel, Stacey B., Russ, Carsten, Logan, Clare V., Sharif, Saghira Malik, Bennett, Christopher P., Abe, Masumi, Hildebrandt, Friedhelm, Diplas, Bill H., Attié-Bitach, Tania, Katsanis, Nicholas, Rajab, Anna, Koul, Roshan, Sztriha, Laszlo, Waters, Elizabeth R., Ferro-Novick, Susan, Woods, C. Geoffrey, Johnson, Colin A., Valente, Enza Maria, Zaki, Maha S., Gleeson, Joseph G.
• Format: Journal Article
• Language: English
• Published: American Association for the Advancement of Science 24.02.2012
• Subjects: Cilia; Evolution; Evolutionary genetics; Genes; Genetic loci; Genetic mutation; Human genetics; Humans; Intergenic DNA; Phenotypes

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. Desp...