OMIA 000303-9031 : Dwarfism, autosomal in Gallus gallus

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: 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) [=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
C1H12ORF23 chromosome 1 open reading frame, human C12orf23 Gallus gallus 1 NC_006088.5 (53648634..53635741) C1H12ORF23 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.

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
White Leghorn Dwarfism, autosomal C1H12ORF23 nonsense (stop-gain) Gallus_gallus-5.0 1 g.53688583C>T c.433G>A p.Trp59∗ Wu et al. (2108): "NM_001006244.1:c.433G > A . . . NP_001006244.1:p.(Trp59∗)" 2018 29930570

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.
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.
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 Journal of Heredity 89:295-300, 1998. Pubmed reference: 9703685.
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 General and Comparative Endocrinology 76:200-204, 1989. Pubmed reference: 2574126.
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.
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.
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.

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  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 21 Mar 2019