期刊
SCIENCE
卷 335, 期 6071, 页码 966-969出版社
AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.1213506
关键词
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资金
- Broad Sequencing Plaform
- UCSD Neuroscience Core [P30NS047101]
- American Philosophical Society
- Italian Ministry of Health [RC2010]
- Telethon Foundation Italy [GGP08145]
- Pierfranco and Luisa Mariani Foundation
- l'Agence National pour la Recherche [ANR-2010-BLAN-1122 01-Foetocilpath]
- American Heart Association [09POST2250641]
- Newlife Foundation for Disabled Children
- Medical Research Council [G0700073]
- Sir Jules Thorn Charitable Trust [09/JTA]
- European Community [241955]
- SYSCILIA
- NIH [NS052455, NS04843, DK068306, DK090917, U54 HG003067, EY021872, HD042601, DK075972, DK072301]
- Simons Foundation Autism Research Initiative
- HHMI
- Division Of Integrative Organismal Systems
- Direct For Biological Sciences [0920611] Funding Source: National Science Foundation
- Medical Research Council [G0700073] Funding Source: researchfish
- The Sir Jules Thorn Charitable Trust [09JTA] Funding Source: researchfish
- MRC [G0700073] Funding Source: UKRI
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.
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