Ahi1

Summary

Gene Symbol: Ahi1
Description: Abelson helper integration site 1
Alias: 1700015F03Rik, Ahi-1, D10Bwg0629e, jouberin, abelson helper integration site 1 protein
Species: mouse
Products:     Ahi1

Top Publications

  1. Sheng G, Xu X, Lin Y, Wang C, Rong J, Cheng D, et al. Huntingtin-associated protein 1 interacts with Ahi1 to regulate cerebellar and brainstem development in mice. J Clin Invest. 2008;118:2785-95 pubmed publisher
    ..Mutations in the Abelson helper integration site 1 gene, which encodes the protein AHI1, have been shown to cause Joubert syndrome...
  2. Hsiao Y, Tong Z, Westfall J, Ault J, Page McCaw P, Ferland R. Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking. Hum Mol Genet. 2009;18:3926-41 pubmed publisher
    ..Here we show that the Abelson helper integration site 1 (Ahi1) gene, whose human ortholog is mutated in Joubert syndrome, regulates cilium formation via its interaction with ..
  3. Jiang X, Zhao Y, Chan W, Vercauteren S, Pang E, Kennedy S, et al. Deregulated expression in Ph+ human leukemias of AHI-1, a gene activated by insertional mutagenesis in mouse models of leukemia. Blood. 2004;103:3897-904 pubmed
  4. Lancaster M, Louie C, Silhavy J, Sintasath L, DeCambre M, Nigam S, et al. Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy. Nat Med. 2009;15:1046-54 pubmed publisher
    ..Loss of the Jouberin (Jbn) protein in mouse leads to the cystic kidney disease nephronophthisis, owing to an unexpected decrease in ..
  5. Ferland R, Eyaid W, Collura R, Tully L, Hill R, Al Nouri D, et al. Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Nat Genet. 2004;36:1008-13 pubmed
    ..2-q23.3 and found three deleterious mutations in AHI1, the first gene to be associated with Joubert syndrome...
  6. Eley L, Gabrielides C, Adams M, Johnson C, Hildebrandt F, Sayer J. Jouberin localizes to collecting ducts and interacts with nephrocystin-1. Kidney Int. 2008;74:1139-49 pubmed publisher
    ..Here we characterize Jouberin, a multi-domain protein encoded by the AHI1 gene...
  7. Louie C, Caridi G, Lopes V, Brancati F, Kispert A, Lancaster M, et al. AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. Nat Genet. 2010;42:175-80 pubmed publisher
    ..Mutations in AHI1, which encodes a cilium-localized protein, have been shown to cause a form of Joubert syndrome that is highly ..
  8. Xu X, Yang H, Lin Y, Li X, Cape A, Ressler K, et al. Neuronal Abelson helper integration site-1 (Ahi1) deficiency in mice alters TrkB signaling with a depressive phenotype. Proc Natl Acad Sci U S A. 2010;107:19126-31 pubmed publisher
    Recent studies suggest that the human Abelson helper integration site-1 (AHI1) gene on chromosome 6 is associated with susceptibility to schizophrenia and autism, two common neuropsychological disorders with depression symptoms...
  9. Jiang X, Hanna Z, Kaouass M, Girard L, Jolicoeur P. Ahi-1, a novel gene encoding a modular protein with WD40-repeat and SH3 domains, is targeted by the Ahi-1 and Mis-2 provirus integrations. J Virol. 2002;76:9046-59 pubmed

More Information

Publications34

  1. Dixon Salazar T, Silhavy J, Marsh S, Louie C, Scott L, Gururaj A, et al. Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. Am J Hum Genet. 2004;75:979-87 pubmed
    ..AHI1, encoding the Jouberin protein, is an alternatively spliced signaling molecule that contains seven Trp-Asp (WD) repeats, an SH3 domain, ..
  2. Chih B, Liu P, Chinn Y, Chalouni C, Komuves L, Hass P, et al. A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain. Nat Cell Biol. 2011;14:61-72 pubmed publisher
    ..The complex that we have described is essential for normal cilia function and acts as a diffusion barrier to maintain the cilia membrane as a compartmentalized signalling organelle. ..
  3. Zhang J, Moseley A, Jegga A, Gupta A, Witte D, Sartor M, et al. Neural system-enriched gene expression: relationship to biological pathways and neurological diseases. Physiol Genomics. 2004;18:167-83 pubmed
    ..Together, our data indicate the power of profiling an individual biologic system in a multisystem context to gain insight into the genomic basis of its structure and function. ..
  4. Doering J, Kane K, Hsiao Y, Yao C, Shi B, Slowik A, et al. Species differences in the expression of Ahi1, a protein implicated in the neurodevelopmental disorder Joubert syndrome, with preferential accumulation to stigmoid bodies. J Comp Neurol. 2008;511:238-56 pubmed publisher
    ..Mutations in the Abelson-helper integration site-1 gene (AHI1) cause JBTS in humans, suggesting that AHI1 is required for hindbrain development; however AHI1 may also be ..
  5. Jiang X, Villeneuve L, Turmel C, Kozak C, Jolicoeur P. The Myb and Ahi-1 genes are physically very closely linked on mouse chromosome 10. Mamm Genome. 1994;5:142-8 pubmed
    ..Our data have revealed that there is no clear evidence for such activation in the tumors we have tested, indicating that provirus insertion in the Ahi-1 region is activating a novel gene, apparently involved in tumor formation. ..
  6. Tuz K, Hsiao Y, Juárez O, Shi B, Harmon E, Phelps I, et al. The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. J Biol Chem. 2013;288:13676-94 pubmed publisher
    Missense mutations in AHI1 result in the neurodevelopmental ciliopathy called Joubert syndrome. Mutations in AHI1 decrease cilia formation, alter its localization and stability, and change its binding to HAP1 and NPHP1...
  7. Lotan A, Lifschytz T, Slonimsky A, Broner E, Greenbaum L, Abedat S, et al. Neural mechanisms underlying stress resilience in Ahi1 knockout mice: relevance to neuropsychiatric disorders. Mol Psychiatry. 2014;19:243-52 pubmed publisher
    The Abelson helper integration site 1 (AHI1) gene has a pivotal role in brain development. Studies by our group and others have demonstrated association of AHI1 with schizophrenia and autism...
  8. Poirier Y, Kozak C, Jolicoeur P. Identification of a common helper provirus integration site in Abelson murine leukemia virus-induced lymphoma DNA. J Virol. 1988;62:3985-92 pubmed
    ..These data suggest that the helper virus contributes to the induction of secondary genetic events which may be important for the development of Abelson murine leukemia virus-induced pre-B-cell lymphoma...
  9. Wang Y, Wang B, Lu J, Shi H, Gong S, Wang Y, et al. Fisetin provides antidepressant effects by activating the tropomyosin receptor kinase B signal pathway in mice. J Neurochem. 2017;143:561-568 pubmed publisher
    ..We administered fisetin to Abelson helper integration site-1 (Ahi1) knockout mice, which have depressive phenotypes...
  10. Wang H, Huang Z, Huang L, Niu S, Rao X, Xu J, et al. Hypothalamic Ahi1 mediates feeding behavior through interaction with 5-HT2C receptor. J Biol Chem. 2012;287:2237-46 pubmed publisher
    ..In the present study, we provide the evidence for the role of Abelson helper integration site 1 (Ahi1) protein as a mediator of feeding behavior through interaction with serotonin receptor 2C (5-HT(2C)R), known for ..
  11. Sang L, Miller J, Corbit K, Giles R, Brauer M, Otto E, et al. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell. 2011;145:513-28 pubmed publisher
    ..Our study further illustrates the power of linking proteomic networks and human genetics to uncover critical disease pathways. ..
  12. Simms R, Hynes A, Eley L, Inglis D, Chaudhry B, Dawe H, et al. Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development. Cell Mol Life Sci. 2012;69:993-1009 pubmed publisher
    ..Mutations in AHI1 are the most common genetic cause of JSRD, with developmental hindbrain anomalies and retinal degeneration being ..
  13. Westfall J, Hoyt C, Liu Q, Hsiao Y, Pierce E, Page McCaw P, et al. Retinal degeneration and failure of photoreceptor outer segment formation in mice with targeted deletion of the Joubert syndrome gene, Ahi1. J Neurosci. 2010;30:8759-68 pubmed publisher
    ..Here, we show that Ahi1, a gene that when mutated results in the neurodevelopmental disorder, Joubert syndrome (JBTS), is required for ..
  14. Ren L, Qian X, Zhai L, Sun M, Miao Z, Li J, et al. Loss of Ahi1 impairs neurotransmitter release and causes depressive behaviors in mice. PLoS ONE. 2014;9:e93640 pubmed publisher
    ..Our previous studies showed that Abelson helper integration site-1 (Ahi1) deficiency causes depression-like behaviors in mice...
  15. Lotan A, Lifschytz T, Mernick B, Lory O, Levi E, Ben Shimol E, et al. Alterations in the expression of a neurodevelopmental gene exert long-lasting effects on cognitive-emotional phenotypes and functional brain networks: translational evidence from the stress-resilient Ahi1 knockout mouse. Mol Psychiatry. 2017;22:884-899 pubmed publisher
    ..Recently, we demonstrated that a mouse model with heterozygous knockout of the key neurodevelopmental gene Ahi1 displays a consistent stress-resilient phenotype...
  16. Lancaster M, Gopal D, Kim J, Saleem S, Silhavy J, Louie C, et al. Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome. Nat Med. 2011;17:726-31 pubmed publisher
    ..Previous evidence has suggested a role for Jouberin (Jbn), the protein encoded by Ahi1, in canonical Wnt signaling...
  17. Kvajo M, McKellar H, Gogos J. Avoiding mouse traps in schizophrenia genetics: lessons and promises from current and emerging mouse models. Neuroscience. 2012;211:136-64 pubmed publisher
    ..Finally, we discuss emerging mouse models, such as second-generation pathophysiology models based on innovative approaches that are facilitated by the information gathered from the current genetic mouse models. ..
  18. Niu S, Huang Z, Wang H, Rao X, Kong H, Xu J, et al. Brainstem Hap1-Ahi1 is involved in insulin-mediated feeding control. FEBS Lett. 2011;585:85-91 pubmed publisher
    The function of the brainstem Hap1-Ahi1 complex in the regulation of feeding behavior was investigated. When mice were fasted or treated with 2-deoxy-D-glucose (2-DG), Hap1-Ahi1 was significantly upregulated...
  19. Weng L, Lin Y, Li A, Wang C, Yan S, Sun M, et al. Loss of Ahi1 affects early development by impairing BM88/Cend1-mediated neuronal differentiation. J Neurosci. 2013;33:8172-84 pubmed publisher
    Mutations in the Abelson helper integration site-1 (AHI1) gene result in N-terminal Ahi1 fragments and cause Joubert syndrome, an autosomal recessive brain malformation disorder associated with delayed development...
  20. Lancaster M, Schroth J, Gleeson J. Subcellular spatial regulation of canonical Wnt signalling at the primary cilium. Nat Cell Biol. 2011;13:700-7 pubmed publisher
    ..The cilium, through regulated intraflagellar transport, diverts Jouberin (Jbn), a ciliopathy protein and context-specific Wnt pathway regulator, away from the nucleus and limits ?-..
  21. Niu S, Wang H, Huang Z, Rao X, Cai X, Liang T, et al. Expression changes of hypothalamic Ahi1 in mice brain: implication in sensing insulin signaling. Mol Biol Rep. 2012;39:9697-705 pubmed publisher
    ..Our study provides the evidence for the role of Abelson helper integration site 1 (Ahi1) protein as a sensor of insulin signaling in the hypothalamus...
  22. Zhou L, Zhao Y, Ringrose A, DeGeer D, Kennah E, Lin A, et al. AHI-1 interacts with BCR-ABL and modulates BCR-ABL transforming activity and imatinib response of CML stem/progenitor cells. J Exp Med. 2008;205:2657-71 pubmed publisher
    ..Importantly, this complex mediates TKI response/resistance of CML stem/progenitor cells. These studies implicate AHI-1 as a potential therapeutic target downstream of BCR-ABL in CML. ..
  23. Romani S, Illi B, De Mori R, Savino M, Gleeson J, Valente E. The ciliary proteins Meckelin and Jouberin are required for retinoic acid-dependent neural differentiation of mouse embryonic stem cells. Differentiation. 2014;87:134-146 pubmed publisher
    ..In the present study we show that mESCs express the ciliary proteins Meckelin and Jouberin in a developmentally-regulated manner, and that these proteins co-localize with acetylated tubulin labeled cilia ..
  24. Barr N, Stewart M, Tsatsanis C, Fulton R, Hu M, Tsujimoto H, et al. The fit-1 common integration locus in human and mouse is closely linked to MYB. Mamm Genome. 1999;10:556-9 pubmed
    ..However, the cluster of viral insertion loci in this region suggests either the presence of a closely linked activation target or that subtle effects on Myb have been overlooked. ..
  25. Eom T, Zhang C, Wang H, Lay K, Fak J, Noebels J, et al. NOVA-dependent regulation of cryptic NMD exons controls synaptic protein levels after seizure. elife. 2013;2:e00178 pubmed publisher
    ..The data reveal a hidden means of dynamic RNA regulation linking electrical activity to splicing and protein output, and of mediating homeostatic excitation/inhibition balance in neurons.DOI:http://dx.doi.org/10.7554/eLife.00178.001. ..