OMIA 001671-9031 : Hyperpigmentation, Silky/Silkie (Fibromelanosis) in Gallus gallus

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Dominant

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2011

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: Ayam Cemani, Black H'Mong, Silky/Silkie, Svarthöna (ohuslän-Dals Svarthöna).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
EDN3 endothelin 3 Gallus gallus 20 NC_006107.5 (10816861..10799441) EDN3 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Ayam Cemani Black H'Mong Silky/Silkie Svarthöna (ohuslän-Dals Svarthöna) Silky/Silkie pigmentation (Fibromelanosis) EDN3 FM complex rearrangement 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

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.
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 :, 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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