OMIA:000979-9031 : Talpid-3 in Gallus gallus (chicken) |
Categories: Mortality / aging (incl. embryonic lethal)
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 616490 (trait) , 616546 (trait) , 610178 (gene)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive lethal
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2006
Species-specific symbol: ta3
Molecular basis: Davey et al. (2006) identified the talpid-3 gene as being KIAA0586, and showed that the mutant allele is the result of the insertion of a single T creating a frameshift which "is predicted to produce a truncated protein of 366 amino acids compared with 1524 in wild type ".
Clinical features: "The chicken talpid3 mutant has a complex phenotype, including polydactylous limbs with many unpatterned digits, vascular defects, hypoteleorism, abnormal dorsoventral patterning of the neural tube, loss of endochondral bone formation and embryonic lethality" (Yin et al., 2009)
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| KIAA0586 | KIAA0586 | Gallus gallus | 5 | NC_052536.1 (54805660..54741289) | KIAA0586 | Homologene, Ensembl , NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 604 | Talpid-3 | KIAA0586 | insertion, small (<=20) | Naturally occurring variant | 5 | insT | 2006 | 16702409 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:000979-9031: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2016 | Schock, E.N., Chang, C.F., Youngworth, I.A., Davey, M.G., Delany, M.E., Brugmann, S.A. : |
| Utilizing the chicken as an animal model for human craniofacial ciliopathies. Dev Biol 415:326-337, 2016. Pubmed reference: 26597494. DOI: 10.1016/j.ydbio.2015.10.024. | |
| 2015 | Malicdan, M.C., Vilboux, T., Stephen, J., Maglic, D., Mian, L., Konzman, D., Guo, J., Yildirimli, D., Bryant, J., Fischer, R., Zein, W.M., Snow, J., Vemulapalli, M., Mullikin, J.C., Toro, C., Solomon, B.D., Niederhuber, J.E. : |
| Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes. J Med Genet 52:830-9, 2015. Pubmed reference: 26386044. DOI: 10.1136/jmedgenet-2015-103316. | |
| 2014 | Davey, M.G., McTeir, L., Barrie, A.M., Freem, L.J., Stephen, L.A. : |
| Loss of cilia causes embryonic lung hypoplasia, liver fibrosis, and cholestasis in the talpid (3) ciliopathy mutant. Organogenesis 10:177-85, 2014. Pubmed reference: 24743779. DOI: 10.4161/org.28819. | |
| 2011 | Bangs, F., Antonio, N., Thongnuek, P., Welten, M., Davey, M.G., Briscoe, J., Tickle, C. : |
| Generation of mice with functional inactivation of talpid3, a gene first identified in chicken. Development 138:3261-72, 2011. Pubmed reference: 21750036. DOI: 10.1242/dev.063602. | |
| 2009 | Yin, Y., Bangs, F., Paton, I.R., Prescott, A., James, J., Davey, M.G., Whitley, P., Genikhovich, G., Technau, U., Burt, D.W., Tickle, C. : |
| The Talpid3 gene (KIAA0586) encodes a centrosomal protein that is essential for primary cilia formation. Development 136:655-64, 2009. Pubmed reference: 19144723. DOI: 10.1242/dev.028464. | |
| 2007 | Davey, MG., James, J., Paton, IR., Burt, DW., Tickle, C. : |
| Analysis of talpid3 and wild-type chicken embryos reveals roles for Hedgehog signalling in development of the limb bud vasculature. Dev Biol 301:155-65, 2007. Pubmed reference: 16959240. DOI: 10.1016/j.ydbio.2006.08.017. | |
| 2006 | Davey, MG., Paton, IR., Yin, Y., Schmidt, M., Bangs, FK., Morrice, DR., Smith, TG., Buxton, P., Stamataki, D., Tanaka, M., Munsterberg, AE., Briscoe, J., Tickle, C., Burt, DW. : |
| The chicken talpid3 gene encodes a novel protein essential for Hedgehog signaling. Genes Dev 20:1365-77, 2006. Pubmed reference: 16702409. DOI: 10.1101/gad.369106. | |
| 2004 | Buxton, P., Francis-West, PH., Davey, MG., Tickle, C., Paton, IR., Morrice, DR., Burt, DW. : |
| Craniofacial development in the talpid3 chicken mutant. Differentiation 72:348-62, 2004. Pubmed reference: 15554946. DOI: 10.1111/j.1432-0436.2004.07207006.x. | |
| 2002 | Davey, M., Paton, I., Morrice, D., Burt, D., Tickle, C. : |
| P6 An approach to the role of hedgehogs in vascular development via the chicken mutant talpid. J Anat 201:427-428, 2002. Pubmed reference: 17103779. | |
| 1999 | Huguet, C., Morrice, D.R., Bouali, F., Vandenbunder, B., Burt, D.W., Abbadie, C. : |
| Expression of transcription factor c-Rel and apoptosis occurrence in polydactylous and syndactylous limb buds of the talpid3 mutant chick embryo Apoptosis 4:31-38, 1999. Pubmed reference: 14634293. | |
| Lewis, KE., Drossopoulou, G., Paton, IR., Morrice, DR., Robertson, KE., Burt, DW., Ingham, PW., Tickle, C. : | |
| Expression of ptc and gli genes in talpid3 suggests bifurcation in Shh pathway. Development 126:2397-407, 1999. Pubmed reference: 10225999. | |
| 1995 | Francis-West, PH., Robertson, KE., Ede, DA., Rodriguez, C., Izpisua-Belmonte, JC., Houston, B., Burt, DW., Gribbin, C., Brickell, PM., Tickle, C. : |
| Expression of genes encoding bone morphogenetic proteins and sonic hedgehog in talpid (ta3) limb buds: their relationships in the signalling cascade involved in limb patterning. Dev Dyn 203:187-97, 1995. Pubmed reference: 7655081. DOI: 10.1002/aja.1002030207. | |
| 1992 | Head, M.W., Triplett, E.L., Ede, D.A., Clayton, R.M. : |
| Localization of delta-Crystallin RNA During Lens Morphogenesis and Differentiation in the Normal and Talpid Chick Embryo International Journal of Developmental Biology 36:363-372, 1992. Pubmed reference: 1280155. | |
| Izpisua-Belmonte, JC., Ede, DA., Tickle, C., Duboule, D. : | |
| The mis-expression of posterior Hox-4 genes in talpid (ta3) mutant wings correlates with the absence of anteroposterior polarity. Development 114:959-63, 1992. Pubmed reference: 1352242. | |
| 1968 | Hinchliffe, JR., Ede, DA. : |
| Abnormalities in bone and cartilage development in the talpid mutant of the fowl. J Embryol Exp Morphol 19:327-39, 1968. Pubmed reference: 5667406. | |
| 1967 | Hinchcliffe, J.R., Ede, D.A. : |
| Limb development in the polydactylous talpid-3 mutant of the fowl Journal of Embryology and Experimental Morphology 17:385-404, 1967. | |
| 1964 | Ede, D.A., Kelly, W.A. : |
| Developmental abnormalities in the trunk and limbs of the talpid3 mutant of the fowl J Embryol Exp Morphol 12:339-56, 1964. Pubmed reference: 14192055. | |
| Ede, D.A., Kelly, W.A. : | |
| Developmental abnormalities in the head region of the talpid mutant of the fowl J Embryol Exp Morphol 12:161-82, 1964. Pubmed reference: 14155403. | |
| 1960 | Hunton, P. : |
| A study of some factors affecting the hatchibility of chicken eggs, with special reference to genetic control MSc Thesis, Wye College, University of London , 1960. |
Edit History
- Created by Frank Nicholas on 26 May 2006
- Changed by Frank Nicholas on 11 Oct 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Imke Tammen2 on 27 May 2021