OMIA:000668-9031 : Muffs and beard in Gallus gallus (chicken) |
Categories: Integument (skin) phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 142963 (gene)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal incomplete dominant
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2016
Species-specific symbol: Mb
Species-specific description: "Muffs, also known as whiskers, consist of tufts of feathers projecting horizontally from both sides of the face, and the beard consists of feathers projecting vertically from under the beak in a downward direction; they always appear together." (Somes, 1990)
Inheritance: Davenport (1906) and Serebrovsky and Petrov (1930) reported single-locus autosomal incompletely dominant inheritance. The symbol Mb, proposed by Hutt (1949), replaced Ba which had been proposed by Hertwig (1933). (Somes 1990).
Mapping: Sun et al. (2015) mapped this trait to chromosome GGA27. Yang et al. (2020) “performed a GWAS and QTL linkage analysis on the trait of beard in Beijing fatty chicken. One major QTL (1.2-1.9 Mb) was identified that could explain 34% of the phenotypic variation. The copy number variation that was copied from the region (GGA27:3 578 409-3 592 890 bp) containing homebox B7 (HOXB7) and homebox B8 (HOXB8) was validated to be only exhibited in the genome of bearded chickens.”
Molecular basis: Guo et a. (2016) used "genome-wide association (GWA) analysis, linkage analysis, Identity-by-Descent (IBD) mapping, array-CGH, genome re-sequencing and expression analysis to show that the Mb allele causing the Mb phenotype is a derived allele where a complex structural variation (SV) on GGA27 leads to an altered expression of the gene HOXB8. . . . The Mb allele differs from the wild-type mb allele by three duplications, one in tandem and two that are translocated to that of the tandem repeat around 1.70 Mb on GGA27".
Breeds:
Faverolle (Chicken) (VBO_0000527),
Huiyang Bearded, China (Chicken) (VBO_0006695),
Orloff (Chicken) (VBO_0000587).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| HOXB8 | homeobox B8 | Gallus gallus | 27 | NC_052558.1 (3402859..3404508) | HOXB8 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 751 | Huiyang Bearded, China (Chicken) | Muffs and beard | HOXB8 | complex rearrangement | Naturally occurring variant | 27 | "The Mb allele differs from the wild-type mb allele by three duplications, one in tandem and two that are translocated to that of the tandem repeat around 1.70 Mb on GGA27 | 2016 | 27253709 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:000668-9031: 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 | Dementieva, N.V., Shcherbakov, Y.S., Ryabova, A.E., Vakhrameev, A.B., Makarova, A.V., Nikolaeva, O.A., Dysin, A.P., Azovtseva, A.I., Reinbah, N.R., Mitrofanova, O.V. : |
| Comparative peculiarities of genomic diversity in Gallus gallus domesticus chickens with decorative plumage: the muffs and beard phenotype. Vavilovskii Zhurnal Genet Selektsii 28:108-116, 2024. Pubmed reference: 38465249. DOI: 10.18699/vjgb-24-13. | |
| 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. | |
| 2023 | Zheng, X., Zhang, Y., Zhang, Y., Chen, J., Nie, R., Li, J., Zhang, H., Wu, C. : |
| HOXB8 overexpression induces morphological changes in chicken mandibular skin: an RNA-seq analysis. Poult Sci 102:102971, 2023. Pubmed reference: 37562126. DOI: 10.1016/j.psj.2023.102971. | |
| 2020 | Yang, K.X., Zhou, H., Ding, J.M., He, C., Niu, Q., Gu, C.J., Zhou, Z.X., Meng, H., Huang, Q.Z. : |
| Copy number variation in HOXB7 and HOXB8 involves in the formation of beard trait in chickens. Anim Genet 51:958-963, 2020. Pubmed reference: 33058257. DOI: 10.1111/age.13011. | |
| 2016 | Guo, Y., Gu, X., Sheng, Z., Wang, Y., Luo, C., Liu, R., Qu, H., Shu, D., Wen, J., Crooijmans, R.P., Carlborg, Ö., Zhao, Y., Hu, X., Li, N. : |
| A complex structural variation on chromosome 27 leads to the ectopic expression of HOXB8 and the muffs and beard phenotype in chickens. PLoS Genet 12:e1006071, 2016. Pubmed reference: 27253709. DOI: 10.1371/journal.pgen.1006071. | |
| 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. | |
| 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. | |
| 1990 | Somes, R.G. Jr : |
| Mutations and major variants of plumage and skin in chickens. In "Poultry Breeding and Genetics" (ed. R.D. Crawford), Elsevier, Amsterdam; Chapter 6 :169-208, 1990. | |
| 1949 | Hutt, F.B. : |
| Genetics of the fowl. McGraw-Hill, New York. , 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. | |
| 1933 | Hertwig, P. : |
| Geschlechtsgebundene und autosomale Koppelungen bei Hühnern Verh. Deutsch. Zool. Ges . :112-118, 1933. | |
| 1930 | Serebrovsky, A.S., Petrov, S.G. : |
| [On the composition of the plan of the chromosomes of the domestic fowl] translated by B.F. Glessing. U.S. Dept. Agric. Journal of Experimental Biology (Russian) 6:157-179, 1930. | |
| 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. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 26 Nov 2012
- Changed by Frank Nicholas on 03 Jun 2016
- Changed by Imke Tammen2 on 27 Oct 2021
- Changed by Imke Tammen2 on 12 Mar 2024