OMIA:000240-9031 : Crest in Gallus gallus
Categories: Integument (skin) phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal incomplete dominant
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2021
Cross-species summary: Also called feather-crested head.
Species-specific symbol: Cr
History: Feather-crested head is a chicken trait with a long history. As reported by Wang et al. (2012), based on Brothwell (1979), "The earliest known description of chickens with a Crest comes from the Roman author Claudius Aelianus, around the turn of the 3rd century AD. Archeological evidence indicates that crested chickens may have been among the earlier differentiated domestic varieties, having been discovered in a Roman era site in Britain that is presumed to have been active in the 4th century AD."
In the first volume of his 1868 book "The Variation of Animals and Plants under Domestication", Charles Darwin categorises chickens into 13 groups, one of which is the "Crested or Polish Breed", for which he provides an illustration showing the "Head, with a large, rounded crest of feathers" (Darwin, 1868, vol. 1, pp. 228-229; with thanks to Li et al., 2021, who noted Darwin's comments on this trait).
Crest was one of the first Mendelian traits to be recorded after the rediscovery of Mendelism: it was included in the list of Mendelian traits published by Hurst (1905), and was also studied by Davenport (1906). Two decades later, it was included in the very first linkage map created for any domesticated animal species, by Serebrovsky and Petrov (1928).
Inheritance: Hurst (1905) provided evidence for single-locus incompletely dominant inheritance, which was confirmed by Davenport (1906). The symbol Cr was assigned by Dunn and Jull (1927).
Mapping: Wang et al. (2012) mapped "Crest to the HOXC cluster in the LGE22C19W28_E50C23 linkage group".
Molecular basis: Wang et al. (2012) reported "that the Crest trait is associated with ectopic expression of HOXC8 in the cranial skin where the Crest develops".
Joller et al. (2018) could find no association between the crest phenotype and markers flanking the HOXC8 gene in the Appenzeller Spitzhaubenhuhn breed and could find "no evidence of polymorphisms within the coding region of HOXC8".
The molecular basis of this distinctive and long-recorded trait was discovered by Li et al. (2021): "the crest phenotype is caused by a 197 bp duplication of an evolutionarily conserved sequence located in the intron of HOXC10 on chromosome 33. . . . The mutation causes ectopic expression of at least five closely linked HOXC genes, including HOXC10, in cranial skin of crested chickens. The result is consistent with the interpretation that the crest feathers are caused by an altered body region identity."
Clinical features: Li et al. (2021) made the following very interesting observation: "The upregulated HOXC gene expression [resulting from the HOXC10-intron duplication] is expanded to skull tissue of Polish chickens showing a large crest often associated with cerebral hernia, but not in Silkie chickens characterized by a small crest, both homozygous for the duplication. Thus, the 197 bp duplication is required for the development of a large crest and susceptibility to cerebral hernia because only crested chicken show this malformation. However, this mutation is not sufficient to cause herniation because this malformation is not present in breeds with a small crest, like Silkie chickens."
Prevalence: Li et al. (2021): "A diagnostic test showed that the duplication was present in all 54 crested chickens representing eight breeds and absent from all 433 non-crested chickens representing 214 populations".
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|HOXC10||Gallus gallus||-||no genomic information (-..-)||HOXC10||Ensembl|
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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|
|1296||Crested (Chicken) Silkie (Chicken)||Crest||HOXC10||duplication||Naturally occurring variant||GRCg6a||33||g.7587588_7587784dup||"a 197 bp duplication of an evolutionarily conserved sequence located in the intron of HOXC10 on chromosome 33" (Li et al., 2021)||2021||33704432|
Cite this entry
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||Tsai, D.Y., Chen, J.J., Su, P.C., Liu, I.M., Yeh, S.H., Chen, C.K., Cheng, H.C., Chen, C.F., Li, W.H., Ng, C.S. :|
|Chicken HOXC8 and HOXC10 genes may play a role in the altered skull morphology associated with the Crest phenotype. J Exp Zool B Mol Dev Evol :, 2023. Pubmed reference: 37039065 . DOI: 10.1002/jez.b.23194.|
|2021||Li, J., Lee, M.O., Davis, B.W., Wu, P., Hsieh Li, S.M., Chuong, C.M., Andersson, L. :|
|The crest phenotype in domestic chicken is caused by a 197 bp duplication in the intron of HOXC10. G3 (Bethesda) 11:jkaa048, 2021. Pubmed reference: 33704432 . DOI: 10.1093/g3journal/jkaa048.|
|2018||Joller, S., Ammann, P., Flury, C., Drögemüller, C. :|
|Evaluation of HOXC8 in crested Swiss chicken. Anim Genet 49:334-336, 2018. Pubmed reference: 29774580 . DOI: 10.1111/age.12674.|
|2015||Sun, Y., Liu, R., Zhao, G., Zheng, M., Sun, Y., Yu, X., Li, P., Wen, J. :|
|Genome-Wide Linkage Analysis Identifies Loci for Physical Appearance Traits in Chickens. G3 (Bethesda) 5:2037-41, 2015. Pubmed reference: 26248982 . DOI: 10.1534/g3.115.020883.|
|2012||Wang, Y., Gao, Y., Imsland, F., Gu, X., Feng, C., Liu, R., Song, C., Tixier-Boichard, M., Gourichon, D., Li, Q., Chen, K., Li, H., Andersson, L., Hu, X., Li, N. :|
|The crest phenotype in chicken is associated with ectopic expression of HOXC8 in cranial skin. PLoS One 7:e34012, 2012. Pubmed reference: 22514613 . DOI: 10.1371/journal.pone.0034012.|
|2010||Magothe, TM., Muhuyi, WB., Kahi, AK. :|
|Influence of major genes for crested-head, frizzle-feather and naked-neck on body weights and growth patterns of indigenous chickens reared intensively in Kenya. Trop Anim Health Prod 42:173-83, 2010. Pubmed reference: 19579054 . DOI: 10.1007/s11250-009-9403-y.|
|1998||Frahm, H.D., Rehkämper, G. :|
|Allometric comparison of the brain and brain structures in the white crested polish chicken with uncrested domestic chicken breeds. Brain Behav Evol 52:292-307, 1998. Pubmed reference: 9807014 . DOI: 10.1159/000006574.|
|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 .|
|1979||Brothwell, D. :|
|Roman evidence of a crested form of domestic fowl, as indicated by a skull showing associated cerebral hernia Journal of Archaeological Science 6:291-293, 1979.|
|1949||Warren, DC. :|
|Linkage relations of autosomal factors in the fowl. Genetics 34:333-50, 1949. Pubmed reference: 17247319 .|
|1938||Warren, D.C. :|
|Mapping the genes of the fowl (abstract) Genetics 23:174 only, 1938.|
|1936||Warren, D.C., Hutt, F.B. :|
|Linkage relations of Crest, Dominant White and Frizzling in the fowl American Naturalist 70:379-394, 1936. DOI: 10.1086/280676.|
|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.|
|1934||Fisher, R.A. :|
|Crest and hernia in fowls due to a single gene without dominance. Science 80:288-9, 1934. Pubmed reference: 17789297 . DOI: 10.1126/science.80.2074.288.|
|1933||Hutt, F.B. :|
|Genetics of the fowl. II. a four-gene autosomal linkage group. Genetics 18:82-94, 1933. Pubmed reference: 17246679 .|
|Warren, D.C. :|
|Nine independently inherited autosomal factors in the domestic fowl. Genetics 18:68-81, 1933. Pubmed reference: 17246678 .|
|1927||Dunn, L.C., Jull, M.A. :|
|On the inheritance of some characters of the Silky fowl Journal of Genetics 19:27-63, 1927.|
|1906||Davenport, C.B. :|
|"Inheritance in poultry". Washington, D.C.: Carnegie Institution of Washington. Publication 52. :1-136, 1906. DOI: 10.5962/bhl.title.29926.|
|1905||Hurst, C.C. :|
|Experiments with poultry. Reports to the Evolution Committee of the Royal Society 2:131-154, 1905.|
|1868||Darwin, C.R. :|
|The variation of animals and plants under domestication, vol. I. London: John Murray. :228-229, 1868.|
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