The stumpy gene is required for mammalian ciliogenesis
Open accessAbstract
Cilia are present on nearly all cell types in mammals and perform remarkably diverse functions. However, the mechanisms underlying ciliogenesis are unclear. Here, we cloned a previously uncharacterized highly conserved gene, stumpy , located on mouse chromosome 7. Stumpy was ubiquitously expressed, and conditional loss in mouse resulted in complete penetrance of perinatal hydrocephalus (HC) and severe polycystic kidney disease (PKD). We found that cilia in stumpy mutant brain and kidney cells were absent or markedly deformed, resulting in defective flow of cerebrospinal fluid. Stumpy colocalized with ciliary basal bodies, physically interacted with γ-tubulin, and was present along ciliary axonemes, suggesting that stumpy plays a role in ciliary axoneme extension. Therefore, stumpy is essential for ciliogenesis and may be involved in the pathogenesis of human congenital malformations such as HC and PKD.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
These results correlate with defective cilia structure and maintenance, which was previously shown to alter Shh signaling.
“These results correlate with defective cilia structure and maintenance, which was previously shown to alter Shh signaling [26, 29, 34].”
From Amyloid-β interrupts canonical Sonic hedgehog signaling by distorting primary cilia structure (2018) · cites this paper as [34]
The section “Stumpy Conditional Mutant Mice Lack Functional Intact Cilia” reports that cilia in stumpy mutant mice were often absent or had deformed axonemes, supporting the defective-cilia portion. Our copy does not say that these defects alter Shh signaling; searches for Shh and Hedgehog signaling found no supporting passage. Page numbers were not available in the indexed passages. (LLM, conf=0.86)
Experimental — accuracy not yet measuredIn mammals, the canonical Shh signaling pathway requires primary cilia.
“In mammals, this canonical Shh signaling pathway requires primary cilia [25, 29–34].”
From Amyloid-β interrupts canonical Sonic hedgehog signaling by distorting primary cilia structure (2018) · cites this paper as [34]
The paper’s opening summary and “Stumpy Conditional Mutant Mice Lack Functional Intact Cilia” section describe defects in primary cilia in stumpy-mutant mice. Neither those passages nor searches for Shh, Sonic hedgehog, and Hedgehog pathway terms yielded a passage addressing whether canonical Shh signaling requires primary cilia. No page numbers are available in our copy. (LLM, conf=0.73)
Experimental — accuracy not yet measuredThe canonical Shh signaling cascade relies on the primary cilium for signal transduction.
“The canonical Shh signaling cascade relies on the primary cilium for signal transduction [25, 29–34].”
From Amyloid-β interrupts canonical Sonic hedgehog signaling by distorting primary cilia structure (2018) · cites this paper as [34]
The paper’s Discussion and opening section describe stumpy’s role in ciliogenesis and cilia-related hydrocephalus and kidney disease, but do not address Shh signal transduction. Searches for “Hedgehog,” “Shh,” and “signal transduction” found no passage establishing that the canonical Shh cascade relies on the primary cilium. Page numbers were not available in our copy. (LLM, conf=0.72)
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
A simplified system for generating recombinant adenoviruses
He, T., Zhou, S., da Costa, L. T., Yu, J., Kinzler, K. W., & Vogelstein, B. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.5.2509 · Cited by 3,209 · see citing works
TRANSFORMING GROWTH FACTOR-β REGULATION OF IMMUNE RESPONSES
Li, M. O., Wan, Y. Y., Sanjabi, S., Robertson, A.-K. L., & Flavell, R. A. (2005) · Annual Review of Immunology · doi:10.1146/annurev.immunol.24.021605.090737 · Cited by 2,199 · see citing works
Self-citationDisruption of the glucocorticoid receptor gene in the nervous system results in reduced anxiety
Tronche, F., Kellendonk, C., Kretz, O., Gass, P., Anlag, K., Orban, P. C., Bock, R., Klein, R., & Schütz, G. (1999) · Nature Genetics · doi:10.1038/12703 · Cited by 1,841 · see citing works
Antisense Transcription in the Mammalian Transcriptome
Katayama, S., Tomaru, Y., Kasukawa, T., Waki, K., Nakanishi, M., Nakamura, M., Nishida, H., Yap, C.-S., Suzuki, M., Kawai, J., et al. (2005) · Science · doi:10.1126/science.1112009 · Cited by 1,664 · see citing works
Microtubules containing acetylated alpha-tubulin in mammalian cells in culture.
Piperno, G., LeDizet, M., & Chang, X. J. (1987) · The Journal of cell biology · doi:10.1083/jcb.104.2.289 · Cited by 873 · see citing works
New Neurons Follow the Flow of Cerebrospinal Fluid in the Adult Brain
Sawamoto, K., Wichterle, H., González-Pérez, Ó., Cholfin, J. A., Yamada, M., Spassky, N., Murcia, N. S., García‐Verdugo, J. M., Marín, Ó., Rubenstein, J. L. R., et al. (2006) · Science · doi:10.1126/science.1119133 · Cited by 803 · see citing works
Li, M. O., Wan, Y. Y., & Flavell, R. A. (2007) · Immunity · doi:10.1016/j.immuni.2007.03.014 · Cited by 728 · see citing works
Self-citationDavenport, J. R., Watts, A. J., Roper, V. C., Croyle, M. J., van Groen, T., Wyss, J. M., Nagy, T. R., Kesterson, R. A., & Yoder, B. K. (2007) · Current Biology · doi:10.1016/j.cub.2007.08.034 · Cited by 482 · see citing works
Porter, M. E., & Sale, W. S. (2000) · The Journal of Cell Biology · doi:10.1083/jcb.151.5.f37 · Cited by 393 · see citing works
Ibáñez-Tallon, I., Pagenstecher, A., Fliegauf, M., Olbrich, H., Kispert, A., Ketelsen, U., North, A. J., Heintz, N., & Omran, H. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh219 · Cited by 370 · see citing works
An incredible decade for the primary cilium: a look at a once-forgotten organelle
Davenport, J. R., & Yoder, B. K. (2005) · American Journal of Physiology-Renal Physiology · doi:10.1152/ajprenal.00118.2005 · Cited by 350 · see citing works
Banizs, B., Pike, M. M., Millican, C. L., Ferguson, W. B., Komlosi, P., Sheetz, J., Bell, P. D., Schwiebert, E. M., & Yoder, B. K. (2005) · Development · doi:10.1242/dev.02153 · Cited by 349 · see citing works
Identification of an acetylation site of Chlamydomonas alpha-tubulin.
Ledizet, M., & Piperno, G. (1987) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.84.16.5720 · Cited by 319 · see citing works
Gherman, A., Davis, E. E., & Katsanis, N. (2006) · Nature Genetics · doi:10.1038/ng0906-961 · Cited by 291 · see citing works
Role of Primary Cilia in the Pathogenesis of Polycystic Kidney Disease
Yoder, B. K. (2007) · Journal of the American Society of Nephrology · doi:10.1681/asn.2006111215 · Cited by 288 · see citing works
Dawe, H. R., Smith, U. M., Cullinane, A. R., Gerrelli, D., Cox, P. M., Badano, J. L., Blair-Reid, S., Sriram, N., Katsanis, N., Attié‐Bitach, T., et al. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl459 · Cited by 281 · see citing works
Rootletin, a novel coiled-coil protein, is a structural component of the ciliary rootlet
Yang, J., Liu, X., Yue, G., Adamian, M., Bulgakov, O. V., & Li, T. (2002) · The Journal of Cell Biology · doi:10.1083/jcb.200207153 · Cited by 259 · see citing works
Self-citationKyttälä, M., Tallila, J., Salonen, R., Kopra, O., Kohlschmidt, N., Paavola–Sakki, P., Peltonen, L., & Kestilä, M. (2006) · Nature Genetics · doi:10.1038/ng1714 · Cited by 258 · see citing works
γ-Tubulin: the microtubule organizer?
Oakley, B. R. (1992) · Trends in Cell Biology · doi:10.1016/0962-8924(92)90125-7 · Cited by 182 · see citing works
Dubois, N. C., Hofmann, D., Kaloulis, K., Bishop, J. M., & Trumpp, A. (2006) · genesis · doi:10.1002/dvg.20226 · Cited by 181 · see citing works
Forni, P. E., Scuoppo, C., Imayoshi, I., Taulli, R., Dastrù, W., Sala, V., Betz, U. A. K., Muzzi, P., Martinuzzi, D., Vercelli, A., et al. (2006) · Journal of Neuroscience · doi:10.1523/jneurosci.2815-06.2006 · Cited by 167 · see citing works
TGF-β and the endothelium during immune injury
Pintavorn, P., & Ballermann, B. J. (1997) · Kidney International · doi:10.1038/ki.1997.192 · Cited by 83 · see citing works
[23] Detection of acetylated α-tubulin by specific antibodies
Ledizet, M., & Piperno, G. (1991) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/0076-6879(91)96025-m · Cited by 76 · see citing works
Ainsworth, C. (2007) · Nature · doi:10.1038/448638a · Cited by 52 · see citing works
Perry, J. A., Ho, M. Y., Viero, S., et al. (2007) · Pediatric and Developmental Pathology · doi:10.2350/06-11-0193.1 · Cited by 41 · see citing works
Hereditary hydrocephalus in laboratory animals and humans
Bruni, J., Bigio, M. R. D., Cardoso, E. R., et al. (1988) · Experimental Pathology · doi:10.1016/s0232-1513(88)80094-x · Cited by 41 · see citing works
Identification of elongation factor‐1α as a Ca2+/calmodulin‐binding protein in Tetrahymena cilia
Ueno, H., Gonda, K., Takeda, T., & Numata, O. (2003) · Cell Motility and the Cytoskeleton · doi:10.1002/cm.10111 · Cited by 25 · see citing works
Oshiro, N., & Pajor, A. M. (2005) · American Journal of Physiology-Cell Physiology · doi:10.1152/ajpcell.00295.2004 · Cited by 16 · see citing works
Identification of ICIS-1, a new protein involved in cilia stability
1, 1. 1. (2006) · Frontiers in bioscience · doi:10.2741/2178 · Cited by 15 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Labelle, M., Begum, S., & Hynes, R. O. (2011) · Cancer Cell · doi:10.1016/j.ccr.2011.09.009 · Cited by 1,833 · see citing works
Chapter Two Intraflagellar Transport (IFT)
Pedersen, L. B., & Rosenbaum, J. L. (2008) · Current Topics in Developmental Biology · doi:10.1016/s0070-2153(08)00802-8 · Cited by 521 · see citing works
Primary cilia regulate hippocampal neurogenesis by mediating sonic hedgehog signaling
Breunig, J. J., Sarkisian, M. R., Arellano, J. I., Morozov, Y. M., Ayoub, A. E., Sojitra, S., Wang, B., Flavell, R. A., Rakic, P., & Town, T. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0804558105 · Cited by 344 · see citing works
Self-citationCilia in the nervous system: linking cilia function and neurodevelopmental disorders
Lee, J. E., & Gleeson, J. G. (2011) · Current Opinion in Neurology · doi:10.1097/wco.0b013e3283444d05 · Cited by 185 · see citing works
Somatostatin Signaling in Neuronal Cilia Is Criticalfor Object Recognition Memory
Einstein, E. B., Patterson, C. A., Hon, B. J., Regan, K. A., Reddi, J., Melnikoff, D. E., Mateer, M. J., Schulz, S., Johnson, B. N., & Tallent, M. K. (2010) · The Journal of Neuroscience · doi:10.1523/jneurosci.5295-09.2010 · Cited by 129 · see citing works
Development and distribution of neuronal cilia in mouse neocortex
Arellano, J. I., Guadiana, S. M., Breunig, J. J., Rakic, P., & Sarkisian, M. R. (2012) · Journal of Comparative Neurology · doi:10.1002/cne.22793 · Cited by 97 · see citing works
Self-citationAmyloid-β interrupts canonical Sonic hedgehog signaling by distorting primary cilia structure
Vorobyeva, A. G., & Saunders, A. J. (2018) · Cilia · doi:10.1186/s13630-018-0059-y · Cited by 67 · see citing works
Shibasaki, T., Tokunaga, A., Sakamoto, R., Sagara, H., Noguchi, S., Sasaoka, T., & Yoshida, N. (2013) · Cerebral Cortex · doi:10.1093/cercor/bhs161 · Cited by 60 · see citing works
- Authors
- Town, T., Breunig, J. J., Sarkisian, M. R., Spilianakis, C., Ayoub, A. E., Liu, X., Ferrandino, A. F., Gallagher, A. R., Li, M. O., Rakic, P., & Flavell, R. A.
- Affiliations
- Cedars-Sinai Medical Center (US)
- Neurobiology and Kavli Institute of Neuroscience,
- Howard Hughes Medical Institute (US)
- Departments of *Immunobiology and
- Section of Nephrology, Department of Internal Medicine, and
- ORCID
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2008-02-26
- Volume
- 105
- Issue
- 8
- Pages
- 2853-2858
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC2268549
- OpenAlex
- W2020912069
- Cited by
- 91
- References
- 29
- Citations by year
- 2026: 1 · 2024: 4 · 2023: 2 · 2022: 2 · 2021: 1 · 2020: 4 · 2019: 4 · 2018: 1 · 2017: 1 · 2016: 3 · 2015: 4 · 2014: 7 · 2013: 8 · 2012: 9
- FWCI
- 7.60
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Howard Hughes Medical Institute
- Epilepsy Foundation
- Harvard University
- University of Rochester
- National Institutes of Health
- U.S. Public Health Service
- National Institute on Aging (K99AG029726)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Cystic Fibrosis Research Advances
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Cleft Lip and Palate Research
- Keywords
- ciliogenesis, primary cilia, polycystic kidney disease, cerebrospinal fluid flow, basal bodies, gamma-tubulin, ciliary axoneme, congenital malformations
- MeSH terms
- Animals, Base Sequence, Brain, Cilia, Cloning, Molecular, Histocytochemistry, Hydrocephalus, Kidney, Polycystic Kidney Diseases, Mice, Inbred C57BL, Molecular Sequence Data, Tubulin, Blotting, Northern, In Situ Hybridization, Computational Biology, Genetic Predisposition to Disease, Reverse Transcriptase Polymerase Chain Reaction, Gene Expression Profiling, Mice
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
