ArticleScience (New York, N.Y.)2012
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.
Article in Science (New York, N.Y.), 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
52 citing papers in PubMed, 99 citations in OpenAlex.
- A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis.Neurogenetics · 2025Article
- TMEM138: From Biological Functions to Diseases.Physiological research · 2025Review
- Moderate levels of folic acid benefit outcomes for cilia based neural tube defects.Developmental biology · 2025Article
- Genome-Based Advances in Modeling Renal Ciliopathies and Enhancing Patient Care.Kidney & blood pressure research · 2025Review
- Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression.American journal of human genetics · 2024Article
- Integrative functional genomic analyses identify genetic variants influencing skin pigmentation in Africans.Nature genetics · 2024Article
- Review
- The genetic and evolutionary basis of gene expression variation in East Africans.Genome biology · 2023Article
- Golgi Dysfunctions in Ciliopathies.Cells · 2022Review
- The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies.Annual review of genomics and human genetics · 2022Review
- Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology.International journal of molecular sciences · 2022Review
- Circulating microRNA sequencing revealed miRNome patterns in hematology and oncology patients aiding the prognosis of invasive aspergillosis.Scientific reports · 2022Article
- Tmem138 is localized to the connecting cilium essential for rhodopsin localization and outer segment biogenesis.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Genotype-phenotype correlates in Joubert syndrome: A review.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- Insights Gained From Zebrafish Models for the Ciliopathy Joubert Syndrome.Frontiers in genetics · 2022Review
- cDNA-detector: detection and removal of cDNA contamination in DNA sequencing libraries.BMC bioinformatics · 2021Article
- Review
- Article
- The diagnostic yield of whole exome sequencing as a first approach in consanguineous Omani renal ciliopathy syndrome patients.F1000Research · 2021Article
- Article
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Authors and funding
30 authors at 10 institutions in 4 countries.
Funding
Abstract
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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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.