Trial reportEuropean journal of human genetics : EJHG2019
SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.
Trial report in European journal of human genetics : EJHG, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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The trial behind it
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Who cites it
26 citing papers in PubMed, 48 citations in OpenAlex.
- Tubulin autoregulation tunes microtubule dynamics to support multicellular architecture and viability.Nature communications · 2026Article
- Tubulin autoregulation factors SCAPER and TTC5 recruit γ-tubulin to non-centrosomal MTOCs for neuronal microtubule nucleation and axon regeneration.bioRxiv : the preprint server for biology · 2025Article
- A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5'-UTR loss-of-function CEP83 variant.NPJ genomic medicine · 2025Article
- Tissue-aware interpretation of genetic variants advances the etiology of rare diseases.Molecular systems biology · 2024Article
- [Improved Care and Treatment Options for Patients with Hyperphagia-Associated Obesity in Bardet-Biedl Syndrome].Klinische Padiatrie · 2024Review
- Article
- A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome.European journal of human genetics : EJHG · 2023Article
- IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma.NPJ genomic medicine · 2023Article
- Predicting molecular mechanisms of hereditary diseases by using their tissue-selective manifestation.Molecular systems biology · 2023Article
- Organization, functions, and mechanisms of the BBSome in development, ciliopathies, and beyond.eLife · 2023Review
- Mechanism of ribosome-associated mRNA degradation during tubulin autoregulation.Molecular cell · 2023Article
- Limb girdle muscular disease caused byProceedings of the National Academy of Sciences of the United States of America · 2023Article
- Retrotransposon insertions associated with risk of neurologic and psychiatric diseases.EMBO reports · 2023Article
- Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook.Therapeutics and clinical risk management · 2023Review
- Primary Cilia: A Cellular Regulator of Articular Cartilage Degeneration.Stem cells international · 2022Review
- A case of Bardet-Biedl syndrome caused by a recurrent variant inBiomedical reports · 2021Article
- Human photoreceptor cells from different macular subregions have distinct transcriptional profiles.Human molecular genetics · 2021Article
- Absence of SCAPER causes male infertility in humans andJournal of medical genetics · 2021Article
- Bardet-Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self-tolerance.EMBO reports · 2021Article
- Ocular Characteristics of Patients With Bardet-Biedl Syndrome Caused by Pathogenic BBS Gene Variation in a Chinese Cohort.Frontiers in cell and developmental biology · 2021Article
Corrections and comments
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Authors and funding
21 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Studies of ciliopathies have served in elucidating much of our knowledge of structure and function of primary cilia. We report humans with Bardet-Biedl syndrome who display intellectual disability, retinitis pigmentosa, obesity, short stature and brachydactyly, stemming from a homozyogous truncation mutation in SCAPER, a gene previously associated with mitotic progression. Our findings, based on linkage analysis and exome sequencing studies of two remotely related large consanguineous families, are in line with recent reports of SCAPER variants associated with intellectual disability and retinitis pigmentosa. Using immuno-fluorescence and live cell imaging in NIH/3T3 fibroblasts and SH-SY5Y neuroblastoma cell lines over-expressing SCAPER, we demonstrate that both wild type and mutant SCAPER are expressed in primary cilia and co-localize with tubulin, forming bundles of microtubules. While wild type SCAPER was rarely localized along the ciliary axoneme and basal body, the aberrant protein remained sequestered to the cilia, mostly at the ciliary tip. Notably, longer cilia were demonstrated both in human affected fibroblasts compared to controls, as well as in NIH/3T3 cells transfected with mutant versus wildtype SCAPER. As SCAPER expression is known to peak at late G1 and S phase, overlapping the timing of ciliary resorption, our data suggest a possible role of SCAPER in ciliary dynamics and disassembly, also affecting microtubule-related mitotic progression. Thus, we outline a human ciliopathy syndrome and demonstrate that it is caused by a mutation in SCAPER, affecting primary cilia.
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