OMIA:000913-9031 : Silky/Silkie feathering in Gallus gallus (chicken)
Categories: Integument (skin) phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 610564 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2014
Species-specific name: Also known as Hookless and Silkiness
Species-specific symbol: h
Species-specific description: The phenotype of this trait was summarised (with photographs) by Feng et al. (2014) as: "In silky-feather chickens beginning with the first pennaceous feathers a clear difference in feather structure is seen as compared to wild-type, with the Silkie chicken maintaining a more downy appearance in the body contour feathers . . . . In the closed pennaceous feather portion, wild-type feathers have hooklets on the distal barbules and forms the vane . . . while silky-feathers lack hooklets . . . . In the afterfeather portion, both wild-type and silky-feather have the barbules structure but no hooklets . . . . The flight feathers and some of the shank feathers can form hooklets in Silkie birds, but fewer than in wild-type chicken . . . . This phenotype has apparently been strongly favored during the development of the Silkie breed due to the beautiful fur-like feathers. The Silkie chickens lose the flight function and do poorly in extreme temperatures because of the lack of closed pennaceous vane."
History: Somes (1990) records this trait being mentioned by Marco Polo in 1298-99 and Lind (1963) cites a mention by Aldrovandi in 1600.
Inheritance: As recounted by Somes (1990), single-locus autosomal recessive inheritance was reported by Davenport (1906), Cunningham (1912), Bonhote (1914), Jones (1921) and Dunn and Jull (1927). The symbol "h" (for hookless) was allocated by Dunn and Jull (1927).
Mapping: As summarised by Dorshorst et al. (2010) " Initial linkage mapping studies suggested the Silkie gene (h) was 43 map units from the naked neck gene (Na) in linkage group III, now known as chromosome 1 (Warren 1938; Hutt 1949). However, it was subsequently shown that Na was located on chromosome 3 suggesting that h was also on this autosome (Pitel et al. 2000)." Dorshorst et al. (2010) confirmed the chromosome to be GGA3, and provided data supporting a location within a 15.7Mb region in which the highest association was with a marker at 69.7Mb.
Feng et al. (2014) independently confirmed the above map location via genome-wide linkage analyses in the China Agricultural University Resource Population (CAURP) comprising 31 F0 (12 White Plymouth Rock and 19 Silky), 19 F1 and 229 F2 individuals, first in an analysis involving 125 microsatellites, and then in an analysis of SNP genotypes from the Illumina Chicken 60K SNP Beadchip, the latter pinpoiting the locus to "a 380 kb interval between positions 70,201,106–70,581,126 bp [on chromosome GGA3; RJF genome sequence galGal3, assembled by the Washington University Genome Sequencing Center (WUGSC]". Subsequent identity-by-descent mapping in the same population narrowed the locus to a "56.7-kb interval (70,447,648–70,504,365)". Haplotype analysis and resequencing narrowed it further to 18.9kb (70,468,129–70,487,067 bp).
Molecular basis: Of the 85 SNPs detected by Feng et al. (2014) within the 18.9kb candidate region, only one showed perfect segregation with the silky-feather trait, namely "a C to G transversion at 70,486,623 bp (ss666793747)". Confirmation of this as a causal mutation was reported by the same authors: "We genotyped ss666793747 in 718 birds from 33 populations and found that all 337 silky-feather chickens were homozygous G/G, 341 wild-type chickens were homozygous C/C and 40 known heterozygous birds were G/C (Table 2). These results lead to the hypothesis that ss666793747 is the causal mutation responsible for the silky-feather phenotype." Noting that "The candidate mutation ss666793747 is located between the SOBP and PDSS2 genes, which are two adjacent genes separated by 16.7 kb." and that "The ss666793747 mutation is 103 bp upstream of the initiator codon ATG of PDSS2 and 16.6 kb upstream of SOBP", Feng et al. (2014) designated "the ss666793747 mutation as PDSS2(-103C-G)". Expression analyses enabled Feng et al. (2014) to conclude that "The silky-feather mutation significantly decreases the expression of PDSS2 during feather development in vivo. Consistent with the regulatory effect, the C to G transversion is shown to remarkably reduce PDSS2 promoter activity in vitro".
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|PDSS2||prenyl (decaprenyl) diphosphate synthase, subunit 2||Gallus gallus||3||NC_052534.1 (67540818..67654817)||PDSS2||Homologene, Ensembl , NCBI gene|
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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||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|966||Silkie (Chicken)||Silky/Silkie feathering||PDSS2||PDSS2(-103C-G)||regulatory||Naturally occurring variant||GRCg6a||3||g.67850419C>G||c.-103C>G||Feng et al. (2014): "a C to G transversion at 70,486,623 bp (ss666793747)" "The ss666793747 mutation is 103 bp upstream of the initiator codon ATG of PDSS2". The reported location was with respect to the galGal2 assembly. In the intervening years, ss666793747 has become rs316090093, from which the present location is taken.||rs316090093||rs316090093||2014||25166907|
Cite this entry
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.
|2014||Feng, C., Gao, Y., Dorshorst, B., Song, C., Gu, X., Li, Q., Li, J., Liu, T., Rubin, C.J., Zhao, Y., Wang, Y., Fei, J., Li, H., Chen, K., Qu, H., Shu, D., Ashwell, C., Da, Y., Andersson, L., Hu, X., Li, N. :|
|A cis-regulatory mutation of PDSS2 causes silky-feather in chickens. PLoS Genet 10:e1004576, 2014. Pubmed reference: 25166907 . DOI: 10.1371/journal.pgen.1004576.|
|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.|
|2000||Pitel, F., Berge, R., Coquerelle, G., Crooijmans, R.P.M.A., Groenen, M.A.M., Vignal, A., Tixier-Boichard, M. :|
|Mapping the Naked Neck (NA) and Polydactyly (PO) mutants of the chicken with microsatellite molecular markers Genetics Selection Evolution 32:73-86, 2000. Pubmed reference: 14736408 . DOI: 10.1051/gse:2000107.|
|1993||Carefoot, WC. :|
|Further studies of linkage and mappings of the loci of genes in group 3 on chromosome 1 of the domestic fowl. Br Poult Sci 34:205-9, 1993. Pubmed reference: 8467400 . DOI: 10.1080/00071669308417576.|
|1992||Bartels, T., Meyer, W., Neurand, K. :|
|[Skin and plumage changes in domestic birds. II. Plumage changes]. Tierarztl Prax 20:275-81, 1992. Pubmed reference: 1496522 .|
|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.|
|1984||Bitgood, JJ., Dochnahl, J., Schlafly, P., Briles, RW., Briles, WE. :|
|A study of linkage relationships of blood group P with naked neck, silkie feathering, and recessive white in chicken. Poult Sci 63:592-4, 1984. Pubmed reference: 6718311 .|
|1963||Lind, L.R. :|
|Aldrovandi On Chickens. The Ornithology of Ulisse Aldrovandi (1660) volume II, book XIV, translated from the Latin with introd., contents, and notes University of Oklahoma Press, Norman, USA :, 1963.|
|1960||Juhn, M., Bates, R.W. :|
|Thyroid function in silky feathering Journal of Experimental Zoology 143:239-243, 1960. Pubmed reference: 13790983 .|
|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 .|
|1938||Warren, D.C. :|
|Mapping the genes of the fowl (abstract) Genetics 23:174 only, 1938.|
|1927||Dunn, L.C., Jull, M.A. :|
|On the inheritance of some characters of the Silky fowl Journal of Genetics 19:27-63, 1927.|
|1921||Jones, S.V.H. :|
|Inheritance of silkiness in fowls - History and description of the sporadic occurrence of silky feathered birds among normally feathered ones, and their relation Journal of Heredity 12:117-128, 1921.|
|1914||Bonhote, J.L. :|
|Preliminary notes on the heredity of certain characters in a cross between Silky and Yokohama fowls. Cairo Science Journal 8:83-90, 1914.|
|1912||Cunningham, J.T. :|
|Mendelian experiments on fowls. Proceedings of the Zoological Society of London 16:241-259, 1912.|
|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.|
- Created by Frank Nicholas on 30 May 2011
- Changed by Frank Nicholas on 06 Jul 2012
- Changed by Frank Nicholas on 28 Nov 2012
- Changed by Frank Nicholas on 06 Sep 2014