OMIA 002108-9031 : Barring, autosomal in Gallus gallus

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 266300 (trait) , 155555 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Dominant

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2021

Cross-species summary: horizontal striping pattern on individual feathers

Species-specific description: Schwochow et al. (2021): "There are two distinct types of barring patterns in chicken, autosomal barring and sex-linked barring. While sex-linked barring is adding a white bar on a pigmented background, autosomal barring is adding a black bar on a gold or silver background on individual feathers (Smyth 1990). ... Autosomal barring ... has been suggested to be caused by the combined effect of the three autosomal loci Db, E, and Pg (Andersson et al., 2020; Carefoot, 1985, 1999; Moore & Smyth, 1972) and is the trademark of some chicken breeds such as Fayoumi, Campine, and Westfälische Totleger." The authors "propose that MC1R is the major patterning locus in chickens, i.e., different mutations causing altered regulation of MC1R signaling promote the development of feather patterns in interaction with other loci. One such interacting locus is definitely Dark brown/SOX10, others are melanotic (Ml) and Columbian restriction (Co) for which no underlying causal gene has been reported yet ... . Furthermore, it is possible that regulatory mutations affecting MC1R expression also contribute to the complex inheritance of within-feather patterns in chicken as previously suggested (Ling et al., 2003)" (Schwochow et al., 2021). The study by Schwochow et al.(2021) "provides strong evidence against the previous assumption that a Patterning locus on chromosome 1 has a predominant role for the presence/absence of within-feather patterns in chicken (Smyth, 1990)."

Mapping: Schwochow et al. (2021) "generated an informative backcross involving the Fayoumi breed showing autosomal barring ... and an inbred line of Light Brown Leghorn (LBL) showing no feather pattern and assumed to be wild-type at all the major loci known to influence plumage color. We used pooled sequencing to map the loci affecting feather pigmentation patterns. Our data show that the major locus controlling the segregation of autosomal barring in this cross is located at the distal end of chromosome 11 where the E/MC1R locus is located. We also show that Db [Dark brown, caused by a deletion upstream of SOX10] is not required for autosomal barring but that it affects the manifestation of this phenotype, and we did not find any evidence for the segregation at the proposed Pg locus [Patterning]."

Molecular basis: Schwochow et al. (2021) "show that the autosomal barring phenotype co-segregates with a missense mutation L133Q [E*R(Fay) allele] in the melanocortin 1 receptor (MC1R) gene. ... genotyping data ... further revealed an incomplete association between the Db allele at SOX10 and autosomal barring, which suggests that Db is not required to form the pattern but makes it more pronounced and easier to phenotype. There may be a third locus segregating in our cross, which is responsible for the red belly phenotype only present in males."

Breeds: Campine, Fayoumi, Westfälische Totleger.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) Gallus gallus 11 NC_052542.1 (18487539..18488982) MC1R 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 Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
1306 Fayoumi Barring, autosomal MC1R E*R(Fay), Pg missense Naturally occurring variant GRCg6a 11 g.18841043T>A c.398T>A p.(L133Q) rs737523889 2021 33793042

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.
2021 Hua, G., Chen, J., Wang, J., Li, J., Deng, X. :
Genetic basis of chicken plumage color in artificial population of complex epistasis. Anim Genet 52:656-66, 2021. Pubmed reference: 34224160. DOI: 10.1111/age.13094.
Schwochow, D., Bornelöv, S., Jiang, T., Li, J., Gourichon, D., Bed'Hom, B., Dorshorst, B.J., Chuong, C.M., Tixier-Boichard, M., Andersson, L. :
The feather pattern autosomal barring in chicken is strongly associated with segregation at the MC1R locus. Pigment Cell Melanoma Res 34:1015-1028, 2021. Pubmed reference: 33793042. DOI: 10.1111/pcmr.12975.
2020 Andersson, L., Bed’hom, B., Chuong, CM., Inaba, M.Inaba, M., Okimoto, R.Okimoto, R., Tixier-Boichard, M. :
The genetic basis for pigmentation phenotypes in poultry In S. E. Aggrey, H. Zhou, M. Tixier-Boichard, & D. D. Rhoads (Eds.), Advances in Poultry Genetics and Genomics. Cambridge, UK: Burleigh Dodds Science Publishing. :, 2020.
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.
1999 Carefoot, W.C. :
Inheritance of the barred plumage pattern of the Silver Campine Fowl, together with its relationship to other patterned fowl British Poultry Science 40:217-220, 1999. Pubmed reference: 10465388. DOI: 10.1080/00071669987629.
1990 Smyth. JR. :
Genetics of plumage, skin and eye pigmentation in chickens In R. D. Crawford (Ed.), Poultry Breeding and Genetics. Amsterdam: Elsevier Science Publishers :, 1990.
1985 Carefoot, W.C. :
Effect of the eumelanin restrictor Db on plumage pattern phenotypes of the domestic fowl. Br Poult Sci 26:409-12, 1985. Pubmed reference: 4027744. DOI: 10.1080/00071668508416829.
1933 Hertwig, P. :
Geschlechtsgebundene und autosomale Koppelungen bei Huhnern [Sex-linked and autosomal couplings in chickens] Verhandlungen der Deutschen zoologischen Gesellschaft 43:112-118, 1933.

Edit History


  • Created by Frank Nicholas on 22 May 2017
  • Changed by Imke Tammen2 on 14 Apr 2021