OMIA 000979-9031 : Talpid-3 in Gallus gallus

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 616490 , 616546

Mendelian trait/disorder: yes

Mode of inheritance: Recessive Embryonic Lethal

Considered a defect: 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_006092.5 (55398499..55334085) KIAA0586 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the required column headers

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Talpid-3 KIAA0586 insertion, small (<=20) insT 2006 16702409

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.
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:, 2014. Pubmed reference: 24743779.
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 head region of the talpid mutant of the fowl J Embryol Exp Morphol 12:161-82, 1964. Pubmed reference: 14155403.
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.
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