OMIA 001622-9031 : Resistance to avian sarcoma and leukosis viruses, subgroup C in Gallus gallus

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2005

Species-specific symbol: tvc

Species-specific description: As in many other cases, resistance to type C avian leukosis viruses is due to the lack of a functional receptor for the viruses.

Inheritance: Payne and Biggs (1970) provided evidence of single-locus autosomal recessive inheritance of resistance to type C avian leukosis viruses.

Mapping: Payne and Pani (1971) presented evidence that the locus for this entry, TVC, is linked to the locus for resistance to type A viruses (see OMIA 001299-9031). The linkage evidence was strengthened by Pani (1974). Elleder et al. (2004) linkage-mapped the TVC locus to chicken chromosome GGA28, and showed that it is very close to the TVA locus.

Molecular basis: Starting with a bacterial artificial chromosome (BAC) containing "a portion of chicken chromosome 28 [GGA28] that conferred susceptibility to ASLV(C) infection", Elleder et al. (2005) identified the TVC gene and showed that it most closely resembles mammalian butyrophilin encoded by BTN1A1. They also showed that resistance is due to a nonsense mutation (TGC[cysteine]55TGA[term]) that "would produce a severely truncated Tvc receptor".

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
BTN1A1 butyrophilin, subfamily 1, member A1 Gallus gallus 28 NC_006115.5 (904145..898598) BTN1A1 Homologene, Ensembl, NCBI gene

Variants

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

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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
Resistance to avian sarcoma and leukosis viruses, subgroup C BTN1A1 nonsense (stop-gain) Galgal4 28 g.808011C>A c.165C>A p.C55* rs735807319 2005 16051833 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

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.
2008 Munguia, A., Federspiel, M.J. :
Efficient subgroup C avian sarcoma and leukosis virus receptor activity requires the IgV domain of the Tvc receptor and proper display on the cell membrane. J Virol 82:11419-28, 2008. Pubmed reference: 18768966. DOI: 10.1128/JVI.01408-08.
2005 Elleder, D., Stepanets, V., Melder, D.C., Senigl, F., Geryk, J., Pajer, P., Plachý, J., Hejnar, J., Svoboda, J., Federspiel, M.J. :
The receptor for the subgroup C avian sarcoma and leukosis viruses, Tvc, is related to mammalian butyrophilins, members of the immunoglobulin superfamily. J Virol 79:10408-19, 2005. Pubmed reference: 16051833. DOI: 10.1128/JVI.79.16.10408-10419.2005.
2004 Elleder, D., Plachý, J., Hejnar, J., Geryk, J., Svoboda, J. :
Close linkage of genes encoding receptors for subgroups A and C of avian sarcoma/leucosis virus on chicken chromosome 28. Anim Genet 35:176-81, 2004. Pubmed reference: 15147387. DOI: 10.1111/j.1365-2052.2004.01118.x.
1997 Mehta, S.C., Pani, P.K. :
Interrelationship between tumour virus receptors, A and C, coded by host cell genes in fowl. Indian J Exp Biol 35:33-6, 1997. Pubmed reference: 9279130.
1977 Dren, C.N., Pani, P.K. :
Genetic control of resistance to subgroup A and subgroup C tumour viruses in Rhode Island Red fowl: evidence for linkage between the tumour virus a (tva) and tumour virus c (tvc) loci. J Gen Virol 35:13-23, 1977. Pubmed reference: 192840.
1976 Pani, P.K. :
Further studies in genetic resistance of fowl to RSV(RAV O): evidence for interaction between independently segregating tumour virus b and tumour virus e genes. J Gen Virol 32:441-53, 1976. Pubmed reference: 184240.
1974 Pani, P.K. :
Close linkage between genetic loci controlling response of fowl to subgroup A and subgroup C sarcoma viruses. J Gen Virol 22:187-95, 1974. Pubmed reference: 4362402.
1971 Payne, L.N., Pani, P.K. :
Evidence for linkage between genetic loci controlling response of fowl to subgroup A and subgroup C sarcoma viruses. J Gen Virol 13:253-9, 1971. Pubmed reference: 4333713.
1970 Payne, L.N., Biggs, P.M. :
Genetic resistance of fowl to MH2 reticuloendothelioma virus. J Gen Virol 7:177-85, 1970. Pubmed reference: 4318432.
1967 Crittenden, L.B., Stone, H.A., Reamer, R.H., Okazaki, W. :
Two loci controlling genetic cellular resistance to avian leukosis-sarcoma viruses. J Virol 1:898-904, 1967. Pubmed reference: 4316238.

Edit History


  • Created by Frank Nicholas on 10 Oct 2011
  • Changed by Frank Nicholas on 10 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 03 Dec 2012