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)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal dominant

Considered a defect: 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


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].


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 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 , 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, 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 , 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. :
The origin of the subcutaneous melanophores in the Silkie fowl. Anat Rec 94:398, 1946. Pubmed reference: 21020531.
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.
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.

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  • Created by Frank Nicholas on 04 Dec 2011
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