OMIA:001746-9031 : Hernia, cerebral in Gallus gallus (chicken)
Categories: Craniofacial phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: no
Species-specific description: see also OMIA 000240-9031 : Crest in Gallus gallus
History: As noted by Li et al., (2021), "Chicken skulls with cerebral hernia have been found at various archeological sites in Western Europe (Great Britain, Austria, Germany, and Hungary) from the Roman to the Post-Medieval period (Gál et al. 2010)".
As recorded by Charles Darwin (1868) in volume 1 of his book "The Variation of Animals and Plants under Domestication", the "large, rounded crest of feathers" on the head of Polish chickens is "supported on a hemispherical protuberance of the frontal bones, which includes the anterior part of the brain." In other words, as noted by Li et al. (2021), Darwin is saying that the crest trait (OMIA 000240-9031) is associated with cerebral hernia. Among the breeds within the Crested category listed by Darwin were Sultans (Turkish), Crève-cœur (French) and Houdan (French). Darwin's words were summarised by Li et al. (2021) as "the cerebral hemispheres were extruded into the spherical region of the skull and the anterodorsal part of the skull is expanded into a large spherical protuberance." As described by Li et al. (2021), this association between crest and cerebral hernia has also been noted by Davenport (1906), Fisher (1934), Warren and Hutt (1936), Shelton (2010), Frahm and Rehkämper (1998), and Yoshimura et al. (2012).
Inheritance: Yoshimura et al. (2012) reported single-locus autosomal recessive inheritance in the crested Polish chicken.
As also noted by Li et al. (2021), "No mutation responsible for cerebral hernia has yet been identified (Verdiglione and Rizzi 2018). It has been proposed that crest and cerebral hernia are determined by the same locus, or two closely linked loci (Davenport 1906; Fisher 1934; Warren and Hutt 1936; Bartels 2003)."
Markers: In reporting a 197bp duplication on chromosome GGA33 as a likely causal variant for Crest in chickens (OMIA 000240-9031), Li et al. (2021) noted that "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."
Crested (Chicken) (VBO_0016845).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
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.
|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||Verdiglione, R., Rizzi, C. :|
|A morphometrical study on the skull of Padovana chicken Italian Journal of Animal Science 17:785-796, 2018. DOI: 10.1080/1828051X.2017.1412810.|
|2012||Yoshimura, K., Kinoshita, K., Mizutani, M., Matsuda, Y., Saito, N. :|
|Inheritance and developmental pattern of cerebral hernia in the crested Polish chicken. J Exp Zool B Mol Dev Evol 318:613-20, 2012. Pubmed reference: 22907661 . DOI: 10.1002/jez.b.22464.|
|2010||Gál, E., Csippán, P., Daróczi-Szabó, L., Daróczi-Szabó, M. :|
|Evidence of the crested form of domestic hen (Gallus gallus f. domestica) from three post-medieval sites in Hungary J Archaeol Sci. 37:1065-1072, 2010. DOI: 10.1016/j.jas.2009.12.007.|
|Shelton, T.L. :|
|The Genetics of the Old English Game Bantam AuthorHouse, Bloomington, IN :12, 2010.|
|2003||Bartels, T. :|
|Variations in the morphology, distribution, and arrangement of feathers in domesticated birds. J Exp Zool B Mol Dev Evol 298:91-108, 2003. Pubmed reference: 12949771 . DOI: 10.1002/jez.b.28.|
|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.|
|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.|
|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.|
|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.|
|1868||Darwin, C.R. :|
|The variation of animals and plants under domestication, vol. I. London: John Murray. :228-229, 1868.|
- Created by Frank Nicholas on 26 Nov 2012
- Changed by Frank Nicholas on 22 Mar 2021
- Changed by Imke Tammen2 on 24 Oct 2022