OMIA:001299-9031 : Resistance/susceptibility to avian sarcoma and leukosis viruses, subgroup A in Gallus gallus (chicken) |
Categories: Immune system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 613646 (trait) , 606475 (gene)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2004
Species-specific symbol: tva
Species-specific description: As in many other cases of single-locus resistance, resistance to type A avian leukosis viruses is due to the lack of a functional receptor for the viruses.
Inheritance: Resistance to the A subgroup of avian sarcoma and leukosis viruses is a single-locus trait, with susceptibility being dominant and resistance recessive (Crittenden et al. 1967), who named the locus "tumour virus a" (tva).
Mapping: Bates et al. (1998) reported that the tva gene maps to within 5 cM of the receptor gene identified by Young et al. (1993), which (given the limited power of the linkage analysis) was strong evidence that the two genes are one in the same.
Markers: y
Molecular basis: The tva gene (i.e. the gene encoding the receptor for subgroup A viruses) was isolated, cloned and partially sequenced by Young et al. (1993), who performed two rounds of transfection with chicken genomic DNA (first into a monkey cell line and then into a mouse cell line) and subsequent selection for clones that are susceptible to subgroup A virus (and hence must be expressing the receptor for subgroup A viruses). Elleder et al. (2004) fully sequenced this gene, and reported that two "different defects were identified in cDNAs cloned from two different ASLV(A)-resistant inbred chickens, line C and line 7(2). Line C tva(r) contains a single base pair substitution, resulting in a cysteine-to-tryptophan change in the LDLR-like region of Tva. This mutation [called allele tva^1] drastically reduces the binding affinity of Tva(R) for the ASLV(A) envelope glycoproteins. Line 7(2) tva(r2) contains a 4-bp insertion in exon 1 that causes a change in the reading frame, which blocks expression of the Tva receptor." This allele is called tva^r2. Reinišová et al. (2012) identified two more resistance alleles at this locus, both disrupting splicing: tva^r3 is a 10bp deletion in intron 1 that includes a critical nucleotide of the deduced branch-point signal; tva^r4 is a 5bp deletion which also destroys the branch point signal. Chen et al. (2015) identified two more resistance alleles, namely tva^r5 ("a [10bp] deletion of the sequence CGCTCACCCC (nucleotides 502 to 511)") and tva^r6 ("a [15bp] deletion of the sequence CGCTCACCCCGCCCC (nucleotides 502 to 516)").
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| CD320 | CD320 molecule | Gallus gallus | 28 | NC_052559.1 (1302511..1307560) | CD320 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 538 | Resistance to avian sarcoma and leukosis viruses, subgroup A | CD320 | deletion, small (<=20) | Naturally occurring variant | 28 | c.502_511delCGCTCACCCC | 2015 | 25873518 | ||||||||
| 539 | Resistance to avian sarcoma and leukosis viruses, subgroup A | CD320 | deletion, small (<=20) | Naturally occurring variant | 28 | c.502_516delCGCTCACCCCGCCCC | 2015 | 25873518 | ||||||||
| 395 | Resistance to avian sarcoma and leukosis viruses, subgroup A | CD320 | splicing | Naturally occurring variant | 28 | c.506-515del10 | 2012 | 22171251 | ||||||||
| 396 | Resistance to avian sarcoma and leukosis viruses, subgroup A | CD320 | splicing | Naturally occurring variant | 28 | c.507-511del5 | 2012 | 22171251 | ||||||||
| 603 | Resistance to avian sarcoma and leukosis viruses, subgroup A | CD320 | tva^r2 | insertion, small (<=20) | Naturally occurring variant | GRCg6a | 28 | g.985659_985660insCTCG | c.48_49insCTCG | p.(P18Afs) | NM_001044645.1; NP_001038110.1 | 2004 | 15564460 | Genomic position in GRCg6a provided by Joshua Khamis. | ||
| 12 | Resistance to avian sarcoma and leukosis viruses, subgroup A | CD320 | tva^r | missense | Naturally occurring variant | GRCg6a | 28 | g.985980C>G | c.185C>G | p.(C62W) | NM_001044645.1; NP_001038110.1; published as c.120C>G and p.(C40W); coordinates in the table have been updated to a recent reference genome and / or transcript | 2004 | 15564460 | Genomic position in GRCg6a provided by Joshua Khamis. |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001299-9031: 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.
| 2023 | Conrad, S.J., Mays, J.K., Hearn, C.J., Dunn, J.R. : |
| Targeted ablation of exon 2 of the avian leukosis virus-A (ALV-A) receptor gene in a chicken fibroblast cell line by CRISPR abrogates ALV-A infection. Avian Dis 67:102-107, 2023. Pubmed reference: 37140118. DOI: 10.1637/aviandiseases-D-22-00072. | |
| 2021 | Koslová, A., Trefil, P., Mucksová, J., Krchlíková, V., Plachý, J., Krijt, J., Reinišová, M., Kučerová, D., Geryk, J., Kalina, J., Šenigl, F., Elleder, D., Kožich, V., Hejnar, J. : |
| Knock-Out of Retrovirus Receptor Gene <i>Tva</i> in the Chicken Confers Resistance to Avian Leukosis Virus Subgroups A and K and Affects Cobalamin (Vitamin B<sub>12</sub>)-Dependent Level of Methylmalonic Acid. Viruses 13:2504, 2021. Pubmed reference: 34960774. DOI: 10.3390/v13122504. | |
| 2015 | Chen, W., Liu, Y., Li, H., Chang, S., Shu, D., Zhang, H., Chen, F., Xie, Q. : |
| Intronic deletions of tva receptor gene decrease the susceptibility to infection by avian sarcoma and leukosis virus subgroup A. Sci Rep 5:9900, 2015. Pubmed reference: 25873518. DOI: 10.1038/srep09900. | |
| 2012 | Reinišová, M., Plachý, J., Trejbalová, K., Šenigl, F., Kučerová, D., Geryk, J., Svoboda, J., Hejnar, J. : |
| Intronic deletions that disrupt mRNA splicing of the tva receptor gene result in decreased susceptibility to infection by avian sarcoma and leukosis virus subgroup A. J Virol 86:2021-30, 2012. Pubmed reference: 22171251. DOI: 10.1128/JVI.05771-11. | |
| 2011 | Beier, K.T., Samson, M.E., Matsuda, T., Cepko, C.L. : |
| Conditional expression of the TVA receptor allows clonal analysis of descendents from Cre-expressing progenitor cells. Dev Biol 353:309-20, 2011. Pubmed reference: 21397594. DOI: 10.1016/j.ydbio.2011.03.004. | |
| 2006 | Contreras-Alcantara, S., Godby, J.A., Delos, S.E. : |
| The single ligand-binding repeat of Tva, a low density lipoprotein receptor-related protein, contains two ligand-binding surfaces. J Biol Chem 281:22827-38, 2006. Pubmed reference: 16769730. DOI: 10.1074/jbc.M512599200. | |
| 2005 | Rai, T., Caffrey, M., Rong, L. : |
| Identification of two residues within the LDL-A module of Tva that dictate the altered receptor specificity of mutant subgroup A avian sarcoma and leukosis viruses. J Virol 79:14962-6, 2005. Pubmed reference: 16282495. DOI: 10.1128/JVI.79.23.14962-14966.2005. | |
| 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. | |
| Elleder, D., Melder, D.C., Trejbalova, K., Svoboda, J., Federspiel, M.J. : | |
| Two different molecular defects in the Tva receptor gene explain the resistance of two tvar lines of chickens to infection by subgroup A avian sarcoma and leukosis viruses. J Virol 78:13489-500, 2004. Pubmed reference: 15564460. DOI: 10.1128/JVI.78.24.13489-13500.2004. | |
| Kvaratskhelia, M., Clark, P.K., Hess, S., Melder, D.C., Federspiel, M.J., Hughes, S.H. : | |
| Identification of glycosylation sites in the SU component of the Avian Sarcoma/Leukosis virus Envelope Glycoprotein (Subgroup A) by mass spectrometry. Virology 326:171-81, 2004. Pubmed reference: 15262505. DOI: 10.1016/j.virol.2004.05.020. | |
| Rai, T., Marble, D., Rihani, K., Rong, L. : | |
| The spacing between cysteines two and three of the LDL-A module of Tva is important for subgroup A avian sarcoma and leukosis virus entry. J Virol 78:683-91, 2004. Pubmed reference: 14694099. | |
| 2003 | Yu, X., Wang, Q.Y., Guo, Y., Dolmer, K., Young, J.A., Gettins, P.G., Rong, L. : |
| Kinetic analysis of binding interaction between the subgroup A Rous sarcoma virus glycoprotein SU and its cognate receptor Tva: calcium is not required for ligand binding. J Virol 77:7517-26, 2003. Pubmed reference: 12805452. | |
| 2002 | Delos, S.E., Burdick, M.J., White, J.M. : |
| A single glycosylation site within the receptor-binding domain of the avian sarcoma/leukosis virus glycoprotein is critical for receptor binding. Virology 294:354-63, 2002. Pubmed reference: 12009877. DOI: 10.1006/viro.2001.1339. | |
| Wang, Q.Y., Manicassamy, B., Yu, X., Dolmer, K., Gettins, P.G., Rong, L. : | |
| Characterization of the LDL-A module mutants of Tva, the subgroup A Rous sarcoma virus receptor, and the implications in protein folding. Protein Sci 11:2596-605, 2002. Pubmed reference: 12381843. DOI: 10.1110/ps.0219802. | |
| Wang, Q.Y., Huang, W., Dolmer, K., Gettins, P.G., Rong, L. : | |
| Solution structure of the viral receptor domain of Tva and its implications in viral entry. J Virol 76:2848-56, 2002. Pubmed reference: 11861852. | |
| 2001 | Tonelli, M., Peters, R.J., James, T.L., Agard, D.A. : |
| The solution structure of the viral binding domain of Tva, the cellular receptor for subgroup A avian leukosis and sarcoma virus. FEBS Lett 509:161-8, 2001. Pubmed reference: 11768384. | |
| Wang, Q.Y., Dolmer, K., Huang, W., Gettins, P.G., Rong, L. : | |
| Role of calcium in protein folding and function of Tva, the receptor of subgroup A avian sarcoma and leukosis virus. J Virol 75:2051-8, 2001. Pubmed reference: 11160709. DOI: 10.1128/JVI.75.5.2051-2058.2001. | |
| 1999 | Balliet, J.W., Berson, J., D'Cruz, C.M., Huang, J., Crane, J., Gilbert, J.M., Bates, P. : |
| Production and characterization of a soluble, active form of Tva, the subgroup A avian sarcoma and leukosis virus receptor. J Virol 73:3054-61, 1999. Pubmed reference: 10074155. | |
| 1998 | Bates, P., Rong, L.J., Varmus, H.E., Young, J.A.T., Crittenden, L.B. : |
| Genetic mapping of the cloned subgroup a avian sarcoma and leukosis virus receptor gene to the tva locus Journal of Virology 72:2505-2508, 1998. Pubmed reference: 9499114. | |
| Rong, L., Gendron, K., Strohl, B., Shenoy, R., Wool-Lewis, R.J., Bates, P. : | |
| Characterization of determinants for envelope binding and infection in tva, the subgroup A avian sarcoma and leukosis virus receptor. J Virol 72:4552-9, 1998. Pubmed reference: 9573218. | |
| 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. | |
| 1996 | Zingler, K., Young, J.A. : |
| Residue Trp-48 of Tva is critical for viral entry but not for high-affinity binding to the SU glycoprotein of subgroup A avian leukosis and sarcoma viruses. J Virol 70:7510-6, 1996. Pubmed reference: 8892869. | |
| 1995 | Rong, L., Bates, P. : |
| Analysis of the subgroup A avian sarcoma and leukosis virus receptor: the 40-residue, cysteine-rich, low-density lipoprotein receptor repeat motif of Tva is sufficient to mediate viral entry. J Virol 69:4847-53, 1995. Pubmed reference: 7609052. | |
| 1994 | Gilbert, J.M., Bates, P., Varmus, H.E., White, J.M. : |
| The receptor for the subgroup A avian leukosis-sarcoma viruses binds to subgroup A but not to subgroup C envelope glycoprotein. J Virol 68:5623-8, 1994. Pubmed reference: 8057442. | |
| 1993 | Bates, P., Young, J.A., Varmus, H.E. : |
| A receptor for subgroup A Rous sarcoma virus is related to the low density lipoprotein receptor. Cell 74:1043-51, 1993. Pubmed reference: 8402880. DOI: 10.1016/0092-8674(93)90726-7. | |
| Young, J.A., Bates, P., Varmus, H.E. : | |
| Isolation of a chicken gene that confers susceptibility to infection by subgroup A avian leukosis and sarcoma viruses. J Virol 67:1811-6, 1993. Pubmed reference: 8383211. DOI: 10.1128/JVI.67.4.1811-1816.1993. | |
| 1991 | Pani, P.K., Naithani, S. : |
| Genetics of post-hatching survival potential of Australorp chicks infected as embryos by subgroup A Rous sarcoma virus: further support to 4-allele genetic model. Indian J Exp Biol 29:416-21, 1991. Pubmed reference: 1655642. | |
| 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. | |
| 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. | |
| 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 06 Sep 2005
- Changed by Frank Nicholas on 10 Oct 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 17 Oct 2012
- Changed by Frank Nicholas on 21 Jun 2013
- Changed by Frank Nicholas on 21 Aug 2014
- Changed by Frank Nicholas on 27 Apr 2015
- Changed by Frank Nicholas on 15 May 2020
- Changed by Imke Tammen2 on 16 Oct 2023