OMIA:001622-9031 : Resistance//susceptibility to avian sarcoma and leukosis viruses, subgroup C in Gallus gallus (chicken) |
Categories: Immune system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 601610 (gene)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
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_052559.1 (1221873..1216360) | BTN1A1 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 325 | Resistance to avian sarcoma and leukosis viruses, subgroup C | BTN1A1 | nonsense (stop-gain) | Naturally occurring variant | GRCg6a | 28 | g.903289G>T | c.165C>A | p.(C55*) | rs735807319 | 2005 | 16051833 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001622-9031: 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.
| 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
- Changed by Frank Nicholas on 15 May 2020
- Changed by Imke Tammen2 on 16 Oct 2023