OMIA 000102-9031 : Barring, sex-linked in Gallus gallus

Mendelian trait/disorder: yes

Mode of inheritance: Z-linked

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2010

Species-specific symbol: B

Species-specific description: Schwochow Thalmann et al. (2017): "feathers of Sex-linked barred chickens are characterized by a fully white bar on a red or black background. . . . Other characteristics of Sex-linked barring are the dilution of dermal pigment in the shanks and beak as well as a white spot on the head present at hatch . . . , which can be utilized for sex determination"

History: This is one of the earliest loci recognised in domestic animals. First reported by Spillman (1908), it later was one of three loci involved in the very first published account of recombination in domestic animals (Goodale, 1917).

Inheritance: Hellström et al. (2010): "Sex-linked inheritance of Sex-linked barring (B*B) and the wild-type (B*N) was reported as early as 1908 (Spillman, 1908)."

Schwochow Thalmann et al. (2017): "Available phenotypic data indicate a ranking of the three variant alleles regarding pigment reduction, as follows: Sex-linked extreme dilution [B0]> Sex-linked dilution [B2]> Sex-linked barring [B1]. "

Molecular basis: Hellström et al. (2010) "identified two non-coding mutations in CDKN2A that showed near complete association with the phenotype. In addition, two missense mutations were identified at highly conserved sites, V9D [allele B1] and R10C [allele B2], and every bird tested with a confirmed Sex-linked barring phenotype carried one of these missense mutations." These authors also identified a third allele (B0) "identical to B1 and B2 for the entire 12 kb IBD region except that it has neither the V9D nor the R10C missense mutation".

Schwochow Thalmann et al. (2017) showed "that Sex-linked barring is genetically heterogeneous, and that the [four] mutations [reported by Hellström et al., 2010] form three functionally different variant alleles. The B0 allele carries only the two non-coding changes and is associated with the most dilute barring pattern, whereas the B1 and B2 alleles carry both the two non-coding changes and one each of the two missense mutations causing the Sex-linked barring and Sex-linked dilution phenotypes, respectively. The data are consistent with evolution of alleles where the non-coding changes occurred first followed by the two missense mutations that resulted in a phenotype more appealing to humans." These also also report "that one or both of the non-coding changes are cis-regulatory mutations causing a higher CDKN2A expression, whereas the missense mutations reduce the ability of [the CDKN2A-encoded alternate reading frame protein] ARF to interact with [Mouse double minute 2 homolog] MDM2."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CDKN2A cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) Gallus gallus Z NC_006127.5 (78856728..78846779) CDKN2A 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
Sex-linked extreme dilution CDKN2A B0 complex rearrangement Z The B0 allele is characterised by two non-coding variants: "The first, SNP1, is within the CDKN2A (ARF) promoter region, 265 bp upstream of the transcription start site (according to GenBank AY138245), and the second, SNP2, is located at nucleotide position 385 bp in CDKN2A intron 1" 2010 20374521
Sex-linked dilution CDKN2A B2 missense Gallus_gallus-5.0 Z g.78636802 c.28C>T p.R10C 2010 20374521 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
Sex-linked barring CDKN2A B1 missense Gallus_gallus-5.0 Z g.78636804 c.26T>A p.V9D 2010 20374521 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.
2017 Schwochow Thalmann, D., Ring, H., Sundström, E., Cao, X., Larsson, M., Kerje, S., Höglund, A., Fogelholm, J., Wright, D., Jemth, P., Hallböök, F., Bed'Hom, B., Dorshorst, B., Tixier-Boichard, M., Andersson, L. :
The evolution of Sex-linked barring alleles in chickens involves both regulatory and coding changes in CDKN2A. PLoS Genet 13:e1006665, 2017. Pubmed reference: 28388616. DOI: 10.1371/journal.pgen.1006665.
2010 Hellström, A.R., Sundström, E., Gunnarsson, U., Bed'Hom, B., Tixier-Boichard, M., Honaker, C.F., Sahlqvist, A.S., Jensen, P., Kämpe, O., Siegel, P.B., Kerje, S., Andersson, L. :
Sex-linked barring in chickens is controlled by the CDKN2A /B tumour suppressor locus. Pigment Cell Melanoma Res 23:521-30, 2010. Pubmed reference: 20374521. DOI: 10.1111/j.1755-148X.2010.00700.x.
2009 Dorshorst, BJ., Ashwell, CM. :
Genetic mapping of the sex-linked barring gene in the chicken. Poult Sci 88:1811-7, 2009. Pubmed reference: 19687264. DOI: 10.3382/ps.2009-00134.
2002 Carefoot, W.C. :
Hen-feathering mutation HF*H may act as a eumelanising factor and modify the expression of autosomal barring British Poultry Science 43:391-394, 2002. Pubmed reference: 12195798. DOI: 10.1080/00071660120103666.
1993 Shoffner, R.N., Otis, J.S., Garwood, V.A. :
Association of Dominant Marker Traits and Metric Traits in Chickens Poultry Science 72:1405-1410, 1993. Pubmed reference: 8378215.
1991 Campo, J.L. :
Use of the Sex-Linked Barring (B)-Gene for Chick Sexing on an Eumelanotic Columbian Background Poultry Science 70:1469-1473, 1991. Pubmed reference: 1886855.
1988 Bitgood, J.J. :
Linear relationship of the loci for barring, dermal melanin inhibitor, and recessive white skin on the chicken Z chromosome. Poult Sci 67:530-3, 1988. Pubmed reference: 3165529.
1986 Garcia, A.J. :
[Sexing day-old chicks on the basis of sex-linked genes. Current trends] Revista Cubana de Ciencias Avicolas 13:13-32, 1986.
1985 Bitgood, JJ. :
Additional linkage relationships within the Z chromosome of the chicken. Poult Sci 64:2234-8, 1985. Pubmed reference: 4095061.
1980 Bitgood, JJ., Shoffner, RN., Otis, JS., Briles, WE. :
Mapping of the genes for pea comb, blue egg, barring, silver, and blood groups A, E, H, and P in the domestic fowl. Poult Sci 59:1686-93, 1980. Pubmed reference: 7413575. DOI: 10.3382/ps.0591686.
Campo, J.L., Orozco, F. :
The action of the sex linked barring gene on Spanish chickens with gold plumage Annales de Genetique et de Selection Animale 12:233-, 1980.
1976 Telloni, RV., Jaap, RG., Fechheimer, NS. :
Cytogenetic and phenotypic effects of a chromosomal rearrangement involving the Z-chromosome and micro-chromosome in the chicken. Poult Sci 55:1886-96, 1976. Pubmed reference: 995812.
1972 Moore, JW., Smyth, JR. :
Genetic factors associated with the plumage pattern of the barred Fayoumi. Poult Sci 51:1149-56, 1972. Pubmed reference: 4647577.
1970 Collins, WM., Teeri, AE., Kahn, AC., Zervas, NP., Costantino, RF. :
The influence of sex-linked barring and rate of feathering genes, and of stock, upon egg riboflavin and vitamin B12. Poult Sci 49:432-9, 1970. Pubmed reference: 5448671.
1968 Collins, WM., Kahn, AC., Teeri, AE., Zervas, NP., Ostantino, RF. :
The effect of sex-linked barring and rate of feathering genes, and of stock, upon egg yolk cholesterol. Poult Sci 47:1518-26, 1968. Pubmed reference: 5750110.
1959 Huntsman, C.M., Jerome, F.N., Snyder, E.S. :
The relationship betweeen plumage colour phenotypes and the presence of black melanin in the abdomen of broiler chickens : Study I Poultry Science 38:878-881, 1959.
1938 Warren, D.C. :
Mapping the genes of the fowl (abstract) Genetics 23:174 only, 1938.
1935 Fisher, R.A. :
Dominance in poultry. Philosophical Transactions of the Royal Society, Series B; Biological Sciences 225:197-226 , 1935. DOI: 10.1098/rstb.1935.0011.
1933 Hertwig, P. :
Geschlechtsgebundene und autoson ale Koppelungen bei Huhnerm [Sex-linked and autosomal couplings in chickens] Verhandlungen der Deutschen zoologischen Gesellschaft 43:112-118, 1933.
1925 Haldane, J.B.S., Crew, F.A.E. :
Change of linkage in poultry with age. Nature 115:641 only, 1925. DOI: 10.1038/115641b0.
1922 Serebrosky, A.S. :
Crossing-over involving three sex-linked genes in chickens. American Naturalist 56:571-572, 1922.
1921 Haldane, J.B.S. :
Linkage in poultry. Science 54:663 only, 1921. Pubmed reference: 17816160. DOI: 10.1126/science.54.1409.663.
1917 Goodale, H.D. :
Crossing-over in the sex chromosome of the male fowl. Science 46:213 only, 1917. Pubmed reference: 17782267. DOI: 10.1126/science.46.1183.213.
1908 Spillman, W.J. :
Spurious allelomorphism: results of some recent investigations American Naturalist 42:610-615, 1908.

Edit History


  • Created by Frank Nicholas on 24 Aug 2010
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 20 May 2017