Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.

doi:10.1126/science.1213506

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Article

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.

Science (New York, N.Y.) - 24 Feb 2012

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

Abstract excerpt

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. D...

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Identifiers

PMID: 22282472
DOI: 10.1126/science.1213506
PMCID: PMC3671610

Genes

TMEM138
TMEM216

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22282472-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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