OMIA:000303-9031 : Dwarfism, autosomal in Gallus gallus (chicken) |
Categories: Skeleton phene (incl. short stature & teeth)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2018
Species-specific symbol: adw
Species-specific description: Two types of dwarfism in mice are due to mutations in genes that map to the region of chromosome 1 in chicken known to contain the gene for autosomal dwarfism in this species. However, neither of these genes (high mobility group protein I-C [HMGI-C], insulin-like growth factor 1 [IGF1]) is responsible for the phenotype in chickens (Ruyterspira et al., 1998)..
History: As summarised by Wu et al. (2018), "The locus responsible for chicken adw was first, and uniquely, found in a Cornell K-strain of White Leghorns, and shown to be caused by a recessive single locus (Cole and Hutt, 1973)."
Mapping: Ruyter-Spira et al. (1998; J. Hered.) linkage-mapped the adw locus to chromosome GGA1. Wu et al. (2018) refined this to the region 52–56 Mb.
Molecular basis: Wu et al. (2018) "identified a novel nonsense mutation NP_001006244.1:p.(Trp59∗), in the transmembrane protein 263 gene (TMEM263) [previously also called C1H12ORF23], completely associated with adw. The nonsense mutation truncates the transmembrane protein within the membrane-spanning domain, expected to cause a dysfunctional protein. TMEM263 is reported to be associated with bone mineral deposition in humans, and the protein shows interaction with growth hormone 1 (GH1)."
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| TMEM263 | transmembrane protein 263 | Gallus gallus | 1 | NC_052532.1 (53694755..53681908) | TMEM263 | 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 second, third etc relevant column
headers.
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1047 | White Leghorn (Chicken) | Dwarfism, autosomal | TMEM263 | nonsense (stop-gain) | Naturally occurring variant | GRCg6a | 1 | g.53638233C>T | c.433G>A | p.(W59*) | Wu et al. (2018): "NM_001006244.1:c.433G > A . . . NP_001006244.1:p.(Trp59∗)" | 2018 | 29930570 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000303-9031: 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 | Wu, Z., Derks, M.F.L., Dibbits, B., Megens, H.J., Groenen, M.A.M., Crooijmans, R.P.M.A. : |
| Corrigendum: A novel loss-of-function variant in transmembrane protein 263 (TMEM263) of autosomal dwarfism in chicken. Front Genet 14:1349789, 2023. Pubmed reference: 38259620. DOI: 10.3389/fgene.2023.1349789. | |
| 2018 | Wu, Z., Derks, M.F.L., Dibbits, B., Megens, H.J., Groenen, M.A.M., Crooijmans, R.P.M.A. : |
| A novel loss-of-function variant in transmembrane protein 263 (TMEM263) of autosomal dwarfism in chicken. Front Genet 9:193, 2018. Pubmed reference: 29930570. DOI: 10.3389/fgene.2018.00193. | |
| 2000 | Cole, RK. : |
| An autosomal dwarfism in the domestic fowl. Poult Sci 79:1507-16, 2000. Pubmed reference: 11092317. DOI: 10.1093/ps/79.11.1507. | |
| 1998 | Ruyter-Spira, C.P., Degroof, A.J.C., Vanderpeel, J.J., Herbergs, J., Masabanda, J., Fries, R., Groenen, M.A.M. : |
| The HMGI-C gene is a likely candidate for the autosomal dwarf locus in the chicken J Hered 89:295-300, 1998. Pubmed reference: 9703685. DOI: 10.1093/jhered/89.4.295. | |
| Ruyter-Spira, C.P., Herbergs, J., Limpens, E., Marsh, J.A., Vanderpoel, J.J., Ayoubi, T.A.Y., Groenen, M.A.M. : | |
| Nucleotide sequence of the chicken HMGI-C cDNA and expression of the HMGI-C and IGF1 genes in autosomal dwarf chicken embryos BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION 1399:83-87, 1998. | |
| 1989 | Lam, S.K., Harvey, S., Scanes, C.G. : |
| Thyroid Function in Sex-Linked and Autosomal Dwarf Chickens Gen Comp Endocrinol 76:200-4, 1989. Pubmed reference: 2574126. DOI: 10.1016/0016-6480(89)90150-0. | |
| 1985 | Huybrechts, L.M., King, D.B., Lauterio, T.J., Marsh, J., Scanes, C.G. : |
| Plasma concentrations of somatomedin-C in hypophysectomized, dwarf and intact growing domestic fowl as determined by heterologous radioimmunoassay. J Endocrinol 104:233-9, 1985. Pubmed reference: 4038508. DOI: 10.1677/joe.0.1040233. | |
| 1983 | Scanes, C.G., Marsh, J., Decuypere, E., Rudas, P. : |
| Abnormalities in the plasma concentrations of thyroxine, tri-iodothyronine and growth hormone in sex-linked dwarf and autosomal dwarf White Leghorn domestic fowl (Gallus domesticus). J Endocrinol 97:127-35, 1983. Pubmed reference: 6842122. DOI: 10.1677/joe.0.0970127. | |
| 1973 | Cole, R.K., Hutt, F.B. : |
| Selection and heterosis in Cornell White Leghorns : A review, with special consideration of interstrain hybrids Animal Breeding Abstracts 41:103-118, 1973. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 21 Mar 2019
- Changed by Imke Tammen2 on 14 Nov 2023