OMIA:001671-9031 : Hyperpigmentation (Fibromelanosis) in Gallus gallus (chicken) |
Categories: Pigmentation phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 131242 (gene)
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal dominant
Disease-related: no
Key variant known: yes
Year key variant first reported: 2011
Cross-species summary: also called Silky/Silkie hyperpigmentation, black bone
Species-specific name: Also known as Dermal hyperpigmentation
Species-specific symbol: FM
Inheritance: The mutant allele (*FM) is dominant to the wild-type, recessive (*N) allele. The locus symbol is FM.
Mapping: Dorshorst et al. (2010) were the first to map this locus, reporting its location as "10.3–13.1 Mb on chromosome [GGA]20". This mapping was slightly narrowed by Shinomiya et al. (2011) to "10.2-11.7 Mb of chicken chromosome [GGA]20".
Molecular basis: Shinomiya et al. (2011) reported that the characteristic hyperpigmentation of Silky chickens is due to a 130kb duplication that contains five genes, including "endothelin 3 (EDN3) which [encodes] a potent mitogen for melanoblasts/melanocytes". The duplication of these genes results in substantial overexpression which gives rise to the hyperpigmentation. This discovery was extended by Dorshorst et al. (2011), who showed that the FM mutation actually involves "the duplication of two genomic regions, each larger than 100 kb and separated by 417 kb on wild-type [GGA20] chromosomes". Their analysis of a range of breeds strongly suggested that the mutation giving rise to this double duplication is the cause of FM in all breeds of chickens, and hence is an old mutation, predating the divergence of breeds. Dharmayanthi et al. (2017): "Like Chinese Silkie, Indonesian Ayam Cemani exhibits fibromelanosis or dermal hyperpigmentation and possesses complex segmental duplications on chromosome 20 that involve the endothelin 3 gene, EDN3. A genomic region, DR1 of 127 kb, together with another region, DR2 of 171 kb, was duplicated by unequal crossing over, accompanied by inversion of one DR2. . . . These genetic arrangements are identical in Cemani and Silkie, indicating a single origin of the genetic cause of Fm. The two DR1s harbor two distinct EDN3 haplotypes in a form of permanent heterozygosity, although they remain allelic in the ancestral Red Jungle Fowl population and some domesticated chicken breeds, with their allelic divergence time being as recent as 0.3 million years ago. In Cemani and Silkie breeds, artificial selection favoring the Fm phenotype has left an unambiguous record for selective sweep that extends in both directions from tandemly duplicated EDN3 loci. This highly homozygous tract is different in length between Cemani and Silkie, reflecting their distinct breeding histories. It is estimated that the Fm phenotype came into existence at least 6600-9100 years ago, prior to domestication of Cemani and Silkie, and that throughout domestication there has been intense artificial selection with strength s > 50% in each breed."
Breeds:
Bohuslän - Dals svarthöna, Sweden (Chicken) (VBO_0007792),
H'mong, Viet Nam (Chicken) (VBO_0007907),
Kedu, Indonesia (Chicken) (VBO_0007320),
Silkie (Chicken) (VBO_0000619).
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 |
---|---|---|---|---|---|---|
EDN3 | endothelin 3 | Gallus gallus | 20 | NC_052551.1 (11158648..11141887) | EDN3 | Homologene, Ensembl , NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending
order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column
headers.
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
722 | Bohuslän - Dals svarthöna, Sweden (Chicken) H'mong, Viet Nam (Chicken) Kedu, Indonesia (Chicken) Silkie (Chicken) | Silky/Silkie pigmentation (Fibromelanosis) | EDN3 | FM | complex rearrangement | Naturally occurring variant | 20 | the FM mutation actually involves "the duplication of two genomic regions, each larger than 100 kb and separated by 417 kb on wild-type [GGA20] chromosomes" | 2011 | 22216010 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2017). OMIA:001671-9031: 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 | Chen, C., Li, J., Li, Z., Nong, Y., Wang, J., Wang, Z., Li, Z. : |
Whole-genome resequencing reveals melanin deposition candidate genes of Luning chicken. BMC Genomics 25:858, 2024. Pubmed reference: 39271972. DOI: 10.1186/s12864-024-10774-5. | |
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. | |
Ji, G., Zhang, M., Ju, X., Liu, Y., Shan, Y., Tu, Y., Zou, J., Shu, J., Li, H., Zhao, W. : | |
Dynamic transcriptome profile analysis of mechanisms related to melanin deposition in chicken muscle development. Animals (Basel) 14:2702, 2024. Pubmed reference: 39335292. DOI: 10.3390/ani14182702. | |
Li, P., Wei, X., Zi, Q., Qu, X., He, C., Xiao, B., Guo, S. : | |
Single-nucleus RNA sequencing reveals cell types, genes, and regulatory factors influencing melanogenesis in the breast muscle of Xuefeng black-bone chicken. Poult Sci 103:S0032-5791(24)00838-1:104259, 2024. Pubmed reference: 39278114. DOI: 10.1016/j.psj.2024.104259. | |
Li, R., Li, D., Xu, S., Zhang, P., Zhang, Z., He, F., Li, W., Sun, G., Jiang, R., Li, Z., Tian, Y., Liu, X., Kang, X. : | |
Whole-transcriptome sequencing reveals a melanin-related ceRNA regulatory network in the breast muscle of Xichuan black-bone chicken. Poult Sci 103:103539, 2024. Pubmed reference: 38382189. DOI: 10.1016/j.psj.2024.103539. | |
Wang, L., Xue, Z., Tian, Y., Zeng, W., Zhang, T., Lu, H. : | |
A single-cell transcriptome atlas of Lueyang black-bone chicken skin. Poult Sci 103:S0032-5791(24)00092-0:103513, 2024. Pubmed reference: 38350389. DOI: 10.1016/j.psj.2024.103513. | |
2023 | Huang, C., Wei, Y., Kang, Z., Zhang, W., Wu, Y. : |
Research Note: Transcriptome analysis of skeletal muscles of black-boned chickens, including 2 types (wild and mutated) of Taihe black-boned silky fowl and 1 type (wild) of Yugan black-boned chicken. Poult Sci 103:103240, 2023. Pubmed reference: 38000345. DOI: 10.1016/j.psj.2023.103240. | |
Shinde, S.S., Sharma, A., Vijay, N. : | |
Decoding the fibromelanosis locus complex chromosomal rearrangement of black-bone chicken: genetic differentiation, selective sweeps and protein-coding changes in Kadaknath chicken. Front Genet 14:1180658, 2023. Pubmed reference: 37424723. DOI: 10.3389/fgene.2023.1180658. | |
Xu, M., Tang, S., Liu, X., Deng, Y., He, C., Guo, S., Qu, X. : | |
Genes influencing deposition of melanin in breast muscle of the Xuefeng black bone chicken based on bioinformatic analysis. Genome 66:212-223, 2023. Pubmed reference: 37094380. DOI: 10.1139/gen-2022-0090. | |
Zhu, F., Yin, Z.T., Zhao, Q.S., Sun, Y.X., Jie, Y.C., Smith, J., Yang, Y.Z., Burt, D.W., Hincke, M., Zhang, Z.D., Yuan, M.D., Kaufman, J., Sun, C.J., Li, J.Y., Shao, L.W., Yang, N., Hou, Z.C. : | |
A chromosome-level genome assembly for the Silkie chicken resolves complete sequences for key chicken metabolic, reproductive, and immunity genes. Commun Biol 6:1233, 2023. Pubmed reference: 38057566. DOI: 10.1038/s42003-023-05619-y. | |
Zi, X., Ge, X., Zhu, Y., Liu, Y., Sun, D., Li, Z., Liu, M., You, Z., Wang, B., Kang, J., Dou, T., Ge, C., Wang, K. : | |
Transcriptome profile analysis identifies candidate genes for the melanin pigmentation of skin in Tengchong snow chickens. Vet Sci 10:341, 2023. Pubmed reference: 37235424. DOI: 10.3390/vetsci10050341. | |
2021 | Khumpeerawat, P., Duangjinda, M., Phasuk, Y. : |
Factors affecting gene expression associated with the skin color of black-bone chicken in Thailand. Poult Sci 100:101440, 2021. Pubmed reference: 34547619. DOI: 10.1016/j.psj.2021.101440. | |
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. | |
Hou, H., Wang, X., Zhang, C., Tu, Y., Lv, W., Cai, X., Xu, Z., Yao, J., Yang, C. : | |
Genomic analysis of GBS data reveals genes associated with facial pigmentation in Xinyang blue-shelled layers Arch Anim Breed 63:483-491, 2020. DOI: doi: 10.5194/aab-63-483-2020. | |
Li, D., Sun, G., Zhang, M., Cao, Y., Zhang, C., Fu, Y., Li, F., Li, G., Jiang, R., Han, R., Li, Z., Wang, Y., Tian, Y., Liu, X., Li, W., Kang, X. : | |
Breeding history and candidate genes responsible for black skin of Xichuan black-bone chicken. BMC Genomics 21:511, 2020. Pubmed reference: 32703156. DOI: 10.1186/s12864-020-06900-8. | |
2019 | Li, D., Wang, X., Fu, Y., Zhang, C., Cao, Y., Wang, J., Zhang, Y., Li, Y., Chen, Y., Li, Z., Li, W., Jiang, R., Sun, G., Tian, Y., Li, G., Kang, X. : |
Transcriptome analysis of the breast muscle of Xichuan Black-Bone chickens under tyrosine supplementation revealed the mechanism of tyrosine-induced melanin deposition. Front Genet 10:457, 2019. Pubmed reference: 31156710. DOI: 10.3389/fgene.2019.00457. | |
2017 | Dharmayanthi, A.B., Terai, Y., Sulandari, S., Zein, M.S., Akiyama, T., Satta, Y. : |
The origin and evolution of fibromelanosis in domesticated chickens: Genomic comparison of Indonesian Cemani and Chinese Silkie breeds. PLoS One 12:e0173147, 2017. Pubmed reference: 28379963. DOI: 10.1371/journal.pone.0173147. | |
2013 | Siwek, M., Wragg, D., Sławińska, A., Malek, M., Hanotte, O., Mwacharo, J.M. : |
Insights into the genetic history of Green-legged Partridgelike fowl: mtDNA and genome-wide SNP analysis. Anim Genet 44:522-532, 2013. Pubmed reference: 23611337. DOI: 10.1111/age.12046. | |
2011 | Dorshorst, B., Molin, A.M., Rubin, C.J., Johansson, A.M., Strömstedt, L., Pham, M.H., Chen, C.F., Hallböök, F., Ashwell, C., Andersson, L. : |
A complex genomic rearrangement involving the endothelin 3 locus causes dermal hyperpigmentation in the chicken. PLoS Genet 7:e1002412, 2011. Pubmed reference: 22216010. DOI: 10.1371/journal.pgen.1002412. | |
Li, Y., Zhu, X., Yang, L., Li, J., Lian, Z., Li, N., Deng, X. : | |
Expression and network analysis of genes related to melanocyte development in the Silky Fowl and White Leghorn embryos. Mol Biol Rep 38:1433-41, 2011. Pubmed reference: 20848220. DOI: 10.1007/s11033-010-0248-2. | |
Shinomiya, A., Kayashima, Y., Kinoshita, K., Mizutani, M., Namikawa, T., Matsuda, Y., Akiyama, T. : | |
Gene duplication of endothelin 3 is closely correlated with the hyperpigmentation of the internal organs (fibromelanosis) in Silky chickens. Genetics 190:627-38, 2011. Pubmed reference: 22135351. DOI: 10.1534/genetics.111.136705. | |
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. | |
2009 | Ortolani-Machado, C.F., Freitas, P.F., Faraco, C.D. : |
Melanogenesis in dermal melanocytes of Japanese Silky chicken embryos. Tissue Cell 41:239-48, 2009. Pubmed reference: 19136131. DOI: 10.1016/j.tice.2008.11.005. | |
Tu, Y.G., Xie, M.Y., Sun, Y.Z., Tian, Y.G. : | |
Structural characterization of melanin from Black-bone silky fowl (Gallus gallus domesticus Brisson). Pigment Cell Melanoma Res 22:134-6, 2009. Pubmed reference: 19140887. DOI: 10.1111/j.1755-148X.2008.00529.x. | |
2008 | Ortolani-Machado, C., De Freitas, P., Borges, M.E., Faraco, C. : |
Special features of dermal melanocytes in white silky chicken embryos. Anat Rec (Hoboken) 291:55-64, 2008. Pubmed reference: 18085614. DOI: 10.1002/ar.20623. | |
2006 | Nishimura, S., Oshima, I., Ono, Y., Tabata, S., Ishibashi, A., Iwamoto, H. : |
Age-related changes in the intramuscular distribution of melanocytes in the Silky fowl. Br Poult Sci 47:426-32, 2006. Pubmed reference: 16905468. DOI: 10.1080/00071660600825082. | |
2001 | Faraco, C.D., Vaz, S.A., Pástor, M.V., Erickson, C.A. : |
Hyperpigmentation in the Silkie fowl correlates with abnormal migration of fate-restricted melanoblasts and loss of environmental barrier molecules. Dev Dyn 220:212-25, 2001. Pubmed reference: 11241830. DOI: 10.1002/1097-0177(20010301)220:3<212::AID-DVDY1105>3.0.CO;2-9. | |
2000 | Muroya, S., Tanabe, R., Nakajima, I., Chikuni, K. : |
Molecular characteristics and site specific distribution of the pigment of the silky fowl. J Vet Med Sci 62:391-5, 2000. Pubmed reference: 10823725. | |
1998 | Nozaki, A., Makita, T. : |
Energy dispersive X-ray fluorescence spectrometry of major tissues of silky fowls. J Vet Med Sci 60:485-8, 1998. Pubmed reference: 9592722. | |
Nozaki, A., Makita, T. : | |
The surface color measurement of major tissues of silky fowls and White Leghorns. J Vet Med Sci 60:489-93, 1998. Pubmed reference: 9592723. | |
Reedy, M.V., Faraco, C.D., Erickson, C.A. : | |
Specification and migration of melanoblasts at the vagal level and in hyperpigmented Silkie chickens. Dev Dyn 213:476-85, 1998. Pubmed reference: 9853968. DOI: 10.1002/(SICI)1097-0177(199812)213:4<476::AID-AJA12>3.0.CO;2-R. | |
1995 | Lecoin, L., Lahav, R., Martin, F.H., Teillet, M.A., Ledouarin, N.M. : |
Steel and c-kit in the development of avian melanocytes: A study of normally pigmented birds and of the hyperpigmented mutant silky fowl Developmental Dynamics 203:106-118, 1995. Pubmed reference: 7544170. DOI: 10.1002/aja.1002030111. | |
1985 | Ferrand, R., L'Hermite, A. : |
Experimental analysis of the extensive pigmentation in the Silkie fowl embryo: evidence for an environmental regulatory process. Experientia 41:512-4, 1985. Pubmed reference: 3987875. | |
1984 | Hallet, M.M., Ferrand, R. : |
Quail melanoblast migration in two breeds of fowl and in their hybrids: evidence for a dominant genic control of the mesodermal pigment cell pattern through the tissue environment. J Exp Zool 230:229-38, 1984. Pubmed reference: 6736895. DOI: 10.1002/jez.1402300208. | |
1947 | Eastlick, H.L., Wilson, D. : |
The melanphores in the embryonic membranes of the white silkie fowl. Anat Rec 99:587, 1947. Pubmed reference: 18935386. | |
1946 | Eastlick, H.L., Wortham, R.A. : |
An experimental study on the featherpigmenting and subcutaneous melanophores in the silkie fowl. J Exp Zool 103:233-58, 1946. Pubmed reference: 20277210. | |
Eastlick, H.L., Wortham, R.A. : | |
The origin of the subcutaneous melanophores in the Silkie fowl. Anat Rec 94:398, 1946. Pubmed reference: 21020531. | |
White, R.F., Eastlick, H.L. : | |
The types of melanophores in white and black silkie fowl embryos. Anat Rec 96:525, 1946. Pubmed reference: 20341407. | |
1927 | Dunn, L.C., Jull, M.A. : |
On the inheritance of some characters of the Silky fowl Journal of Genetics 19:27-63, 1927. | |
Wriedt, C. : | |
Inheritance of black pigment in silky chickens Hereditas 9:223-224, 1927. | |
1915 | Kuklenski, J. : |
Über das vorkommen und die verteilung des pigmentes in den organen und geweben bei japanischen seidenhühnern Arch. Micro. Anat. Entwickl. 87:1-37, 1915. | |
1911 | Bateson, W., Punnett, R.C. : |
The inheritance of the peculiar pigmentation of the Silky fowl Journal of Genetics 1:185-203, 1911. |
Edit History
- Created by Frank Nicholas on 04 Dec 2011
- Changed by Frank Nicholas on 04 Dec 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 16 Jan 2012
- Changed by Frank Nicholas on 05 Jul 2012
- Changed by Frank Nicholas on 06 Jul 2012
- Changed by Frank Nicholas on 13 Jan 2014
- Changed by Frank Nicholas on 02 Sep 2017