OMIA:000884-9031 : Rose comb in Gallus gallus (chicken) |
Categories: Craniofacial phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 614270 (gene)
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal dominant
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2012
Species-specific symbol: R
History: This trait is one of the first six animal traits to be shown to be inherited in a Mendelian manner, in adjacent papers by Bateson and Saunders (1902; pages 87-124) and Bateson and Saunders (1902; pages 125-160). The other five traits are Pea-comb (OMIA 000782-9031), Polydactyly (OMIA 000810-9031), Dominant White (OMIA 000373-9031), and Yellow skin (OMIA 001449-9031) in chickens; and polled (OMIA 000483-9913) in cattle. This trait was also one of the first pair of loci in farm animals to be shown to be linked autosomally, when Serebrovsky and Petrov (1928) reported a recombination fraction of 8% between this locus and Creeper (OMIA 000006-9031). Linkage between these two loci was confirmed (with a smaller recombination fraction) by Landauer (1932, 1933) and Taylor (1934).
Mapping: The linkage group to which this locus belongs became known as linkage group II, which was later shown to be located on chromosome GGA7 (Vaez et al., 2008). A GGA7 location was confirmed by Dorshorst et al. (2010), the most likely region being 16.9–22.4 Mb.
Molecular basis: Having observed substantial suppression of recombination in the vicinity of the mapped Rose-comb locus on chromosome GGA7, Imsland et al. (2012) suspected that the trait could be associated with an inversion. Genomic resequencing subsequently confirmed "a 7.38 Mb inversion with breakpoints located approximately at 16.50 Mb and 23.88 Mb". The Rose-comb phenotype arises because the inversion results in "the relocalization of the MNR2 homeodomain protein gene leading to transient ectopic expression of MNR2 during comb development". Naming this Rose-comb allele R1, Imsland et al. (2012) also report a second Rose-comb allele (R2), which "must have originated by a recombination event between the wild-type allele at position 16.50 Mb and the R1 allele at position 23.79 Mb in the inverted region . . . . The consequence of this recombination event is that R2 does not carry the entire inversion but instead has two duplicated segments, one 91 kb fragment (23,790,414–23,881,384 bp) that represents a remaining fragment of the inverted region together with a small duplicated fragment of 198 bp (16,499,583–16,499,781 bp) that is present on both sides of the 91 kb duplication". The same authors also were able to provide a molecular explanation for the very first example of epistasis (interaction between genes) ever reported (by Bateson and Punnett, 1908), namely the walnut comb, which results from the combined action of Rose-comb and Pea-comb alleles (see OMIA 000782-9031): "Transient ectopic expression of MNR2 and SOX5 (causing the Pea-comb phenotype) occurs in the same population of mesenchymal cells and with at least partially overlapping expression in individual cells in the comb primordium". Finally, Imsland et al. (2012) were also able to provide an explanation for the well-documented pleiotropic effect of Rose-comb, namely that male homozygotes have poor sperm motility (see Crawford and Merritt, 1963, and many more recent references in the list below). The authors propose that this pleiotropy arises from the inversion breakpoint of allele R1 coinciding with a gene (CCDC108) whose encoded peptide includes a major sperm protein domain.
Associated gene:
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
MNR2 | homeodomain protein | Gallus gallus | 7 | NC_052538.1 (21939519..21945447) | MNR2 | 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 | Year Published | PubMed ID(s) | Acknowledgements |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1433 | Rose comb | MNR2 | R2 | complex rearrangement | Naturally occurring variant | galGal3 | 7 | g.16499781_16499782ins[23881384_23790414inv;16499583–16499781] | predicted to be the result of a recombination event between the wild-type allele and the R1 allele: "R2 does not carry the entire inversion but instead has two duplicated segments, one 91 kb fragment (23,790,414–23,881,384 bp) that represents a remaining fragment of the inverted region together with a small duplicated fragment of 198 bp (16,499,583–16,499,781 bp)" | 2012 | 22761584 | |||||
745 | Rose comb | MNR2 | R1 | inversion | Naturally occurring variant | galGal3 | 7 | g.16499782_23881391delins23881384_16499781 | published as a 7.38 Mb inversion | 2012 | 22761584 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2022). OMIA:000884-9031: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
2024 | Huang, R., Zhu, C., Zhen, Y. : |
Genetic diversity, demographic history, and selective signatures of Silkie chicken. BMC Genomics 25:754, 2024. Pubmed reference: 39095706. DOI: 10.1186/s12864-024-10671-x. | |
2021 | Derks, M.F.L., Steensma, M. : |
Review: Balancing selection for deleterious alleles in livestock. Front Genet 12:761728, 2021. Pubmed reference: 34925454. DOI: 10.3389/fgene.2021.761728. | |
2012 | Imsland, F., Feng, C., Boije, H., Bed'hom, B., Fillon, V., Dorshorst, B., Rubin, C-J., Liu, R., Gao, Y., Gu, X., Wang, Y., Gourichon, D., Zody, M.C., Zecchin, W., Vieaud, A., Tixier-Boichard, M., Hu, X., Hallböök, F., Li, N., Andersson, L. : |
The rose-comb mutation in chickens constitutes a structural rearrangement causing both altered comb morphology and defective sperm motility. PLoS Genetics 8(6):e1002775, 2012. Pubmed reference: 22761584. DOI: 10.1371/journal.pgen.1002775. | |
Wragg, D., Mwacharo, J.M., Alcalde, J.A., Hocking, P.M., Hanotte, O. : | |
Analysis of genome-wide structure, diversity and fine mapping of Mendelian traits in traditional and village chickens. Heredity (Edinb) 109:6-18, 2012. Pubmed reference: 22395157. DOI: 10.1038/hdy.2012.9. | |
2010 | Dorshorst, B., Okimoto, R., Ashwell, C. : |
Genomic regions associated with dermal hyperpigmentation, polydactyly and other morphological traits in the Silkie chicken. J Hered 101:339-50, 2010. Pubmed reference: 20064842. DOI: 10.1093/jhered/esp120. | |
2008 | Vaez, M., Follett, SA., Bed'hom, B., Gourichon, D., Tixier-Boichard, M., Burke, T. : |
A single point-mutation within the melanophilin gene causes the lavender plumage colour dilution phenotype in the chicken. BMC Genet 9:7, 2008. Pubmed reference: 18197963. DOI: 10.1186/1471-2156-9-7. | |
1996 | Mclean, D.J., Froman, D.P. : |
Identification of a sperm cell attribute responsible for subfertility of roosters homozygous for the rose comb allele Biology of Reproduction 54:168-172, 1996. Pubmed reference: 8838014. | |
1994 | Kirby, J.D., Engel, H.N., Froman, D.P. : |
Analysis of subfertility associated with homozygosity of the rose comb allele in the male domestic fowl. Poult Sci 73:871-8, 1994. Pubmed reference: 8072931. DOI: 10.3382/ps.0730871. | |
1993 | Shoffner, R.N., Otis, J.S., Garwood, V.A. : |
Association of dominant marker traits and metric traits in chickens. Poult Sci 72:1405-10, 1993. Pubmed reference: 8378215. DOI: 10.3382/ps.0721405. | |
1992 | Froman, D.P., Kirby, J.D., Alaghbari, A.M. : |
Analysis of the combined effect of the spermatozoal degeneration allele (Sd) and homozygosity of the rose comb allele (R) on the duration of fertility of roosters (Gallus domesticus). Poult Sci 71:1939-42, 1992. Pubmed reference: 1437982. DOI: 10.3382/ps.0711939. | |
1981 | Petitjean, M., Servouse, M. : |
Comparative study of some characteristics of the semen of RR (rose comb) or rr (single comb) cockerels. Reprod Nutr Dev (1980) 21:1085-93, 1981. Pubmed reference: 6218547. DOI: 10.1051/rnd:19810807. | |
1974 | Etches, RJ., Buckland, RB., Hawes, RO. : |
The effect of the genes for rose comb and polydactyly on sperm transport in the hen's oviduct. Poult Sci 53:422-4, 1974. Pubmed reference: 4833050. | |
1972 | Brumbaugh, JA., Chatterjee, G., Hollander, WF. : |
Adendritic melanocytes: a mutation in linkage group II of the fowl. J Hered 63:19-25, 1972. Pubmed reference: 5019540. DOI: 10.1093/oxfordjournals.jhered.a108211. | |
1971 | Crawford, R.D. : |
Rose comb and fertility in silver Spangled Hamburgs. Poult Sci 50:867-9, 1971. Pubmed reference: 5569770. | |
1969 | Buckland, R.B., Wilcox, F.H., Shaffner, C.S. : |
Influence of homozygosity for rose comb on fumarase, aconitase, isocitric dehydrogenase and malic dehydrogenase activity in spermatozoa of the domestic fowl (Gallus domesticus). J Reprod Fertil 18:89-95, 1969. Pubmed reference: 5791687. | |
1968 | Buckland, RB., Hawes, RO. : |
Comb type and reproduction in the male fowl segregation of the rose and pea comb genes. Can J Genet Cytol 10:395-400, 1968. Pubmed reference: 5699835. | |
1965 | Crawford, R.D., Smyth, J.R. : |
Infertility and action of the genes for rose comb in the domestic fowl Biological Abstracts 46:24-, 1965. | |
Crawford, R.D., Smyth, J.R. : | |
The influence of comb genotype on mating behaviour in the domestic fowl Poultry Science 44:115-122, 1965. Pubmed reference: 14336869. | |
1964 | Crawford, R.D., Smyth, J.R. : |
Infertility and action of the gene for Rose comb in the domestic fowl Can J Genet Cytol 259:298-303, 1964. Pubmed reference: 14208710. | |
Crawford, R.D., Smyth, J.R. : | |
Semen quality and the gene for rose comb in the domestic fowl Poultry Science 43:1551-1557, 1964. | |
Crawford, R.D., Smyth, R.J. : | |
Studies of the relationship between fertility and the gene for rose comb in the domestic fowl. I. The relationship between comb genotype and fertility Poultry Science 43:1009-1017, 1964. | |
1963 | Crawford, R.D., Merritt, E.S. : |
The relationship between rose comb and reproduction in the domestic fowl Canadian Journal of Genetics and Cytology 5:89-95, 1963. Pubmed reference: 14023733. | |
Merat, P. : | |
[Abnormal segregation for the alleles 'single comb' and 'rose comb' in the fowl. IV. Combined discussion on the three tupes of cross, RrXrr. rrXRr and RrXRr] Annales de Biologie Animale, Biochimie, Biophysique 3:133-141, 1963. | |
Merat, P. : | |
Abnormal segregations for the alleles 'single comb' and 'Rose comb' in the domestic fowl Genetics Today. Proceedings of the Eleventh International Congress of Genetics, The Hague 1:259 Abstract, 1963. | |
Merat, P. : | |
[Abnormal segregation for the alleles 'single comb' and 'rose comb' in the fowl. II. rr male x Rr female] Annales de Biologie Animale, Biochimie, Biophysique 3:59-64, 1963. | |
1949 | Warren, DC. : |
Linkage relations of autosomal factors in the fowl. Genetics 34:333-50, 1949. Pubmed reference: 17247319. DOI: 10.1093/genetics/34.3.333. | |
1938 | Fisher, R.A. : |
Dominance in poultry - Feathered feet, rose comb, internal pigment and pile. Proceedings of the Royal Society, Series B: Biological Sciences 125:25-48, 1938. | |
Warren, D.C. : | |
Mapping the genes of the fowl (abstract) Genetics 23:174 only, 1938. DOI: 10.1093/genetics/23.1.139. | |
1934 | Taylor, L.W. : |
Creeper and single-comb linkage in the fowl. Journal of Heredity 25:205-206, 1934. | |
1933 | Landauer, W. : |
Creeper and single-comb linkage in fowl. Nature 132:606 only, 1933. | |
Warren, D.C. : | |
Nine independently inherited autosomal factors in the domestic fowl. Genetics 18:68-81, 1933. Pubmed reference: 17246678. DOI: 10.1093/genetics/18.1.68. | |
1932 | Landauer, W. : |
Studies on the Creeper Fowl. V. The linkage of the genes for Creeper and Single-comb. Journal of Genetics 26:285-290, 1932. | |
1928 | Serebrovsky, A.S., Petrov, S.G. : |
A case of close autosomal linkage in the fowl Journal of Heredity 19:305-306, 1928. | |
1908 | Bateson, W., Punnett, R.C. : |
Experimental studies in the physiology of heredity. Poultry Reports of the Evolution Committee of the Royal Society 4:18-35, 1908. | |
1905 | Bateson, W., Punnett, R.C. : |
Experimental studies in the physiology of heredity. Poultry. Reports to the Evolution Committee of the Royal Society 2:99-119, 1905. | |
Bateson, W., Punnett, R.C. : | |
A suggestion as to the nature of the "walnut"comb in fowls Proceedings of the Cambridge Philosophical Society 13:165-168, 1905. | |
1902 | Bateson, W., Saunders, E.R. : |
Experimental studies in the physiology of heredity. Part II. Poultry Reports to the Evolution Committee of the Royal Society 1:87-124, 1902. | |
Bateson, W., Saunders, E.R. : | |
Experimental studies in the physiology of heredity. Part III. The facts of heredity in the light of Mendel's discovery Reports to the Evolution Committee of the Royal Society 1:125-160, 1902. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
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