OMIA 000394-9031 : Frizzle in Gallus gallus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 612318

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Incompletely Dominant

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2012

Species-specific name: Also called Frizzling

Species-specific symbol: F

History: Somes (1990) cites Lind (1963) who mentions this trait being described as early as 1600, by Aldrovandi.

Inheritance: Davenport (1906), Hutt (1930) and Landauer and Dunn (1930) all provided evidence for single-locus autosomal incompletely dominant inheritance (Somes, 1990).

Mapping: Using a genome-wide scan of 45 birds in 5 families with 2678 SNPs, Ng et al. (2012) linkage-mapped the Frizzle locus to the linkage group E22C19W28_E50C23 on chromosome E22. From the chicken genome assembly, it was evident that this region contains a cluster of keratin genes.

Molecular basis: As reported by Ng et al. (2012): "Sequence analyses of the keratin gene cluster identified a 69 bp in-frame deletion in a conserved region of KRT75, an α-keratin gene. Retroviral-mediated expression of the mutated F cDNA in the wild-type rectrix qualitatively changed the bending of the rachis with some features of frizzle feathers including irregular kinks, severe bending near their distal ends, and substantially higher variations among samples in comparison to normal feathers. These results confirmed KRT75 as the F gene."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
KRT75 keratin 75 Gallus gallus 33 NC_008465.4 (5245597..5241761) KRT75 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
Frizzle KRT75 deletion, gross (>20) a 69 bp in-frame deletion in a conserved region of KRT75 2012 22829773

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.
2012 Ng, C.S., Wu, P., Foley, J., Foley, A., McDonald, M.L., Juan, W.T., Huang, C.J., Lai, Y.T., Lo, W.S., Chen, C.F., Leal, S.M., Zhang, H., Widelitz, R.B., Patel, P.I., Li, W.H., Chuong, C.M. :
The chicken frizzle feather is due to an α-keratin (KRT75) mutation that causes a defective rachis. PLoS Genet 8:e1002748, 2012. Pubmed reference: 22829773. DOI: 10.1371/journal.pgen.1002748.
2011 Adeleke, MA., Peters, SO., Ozoje, MO., Ikeobi, CO., Bamgbose, AM., Adebambo, OA. :
Growth performance of Nigerian local chickens in crosses involving an exotic broiler breeder. Trop Anim Health Prod 43:643-50, 2011. Pubmed reference: 21088891. DOI: 10.1007/s11250-010-9747-3.
Peters, SO., Gunn, HH., Imumorin, IG., Agaviezor, BO., Ikeobi, CO. :
Haematological studies on frizzled and naked neck genotypes of Nigerian native chickens. Trop Anim Health Prod 43:631-8, 2011. Pubmed reference: 21107909. DOI: 10.1007/s11250-010-9743-7.
2010 Magothe, TM., Muhuyi, WB., Kahi, AK. :
Influence of major genes for crested-head, frizzle-feather and naked-neck on body weights and growth patterns of indigenous chickens reared intensively in Kenya. Trop Anim Health Prod 42:173-83, 2010. Pubmed reference: 19579054. DOI: 10.1007/s11250-009-9403-y.
Sharifi, A.R., Horst, P., Simianer, H. :
The effect of frizzle gene and dwarf gene on reproductive performance of broiler breeder dams under high and normal ambient temperatures. Poult Sci 89:2356-69, 2010. Pubmed reference: 20952698. DOI: 10.3382/ps.2010-00921.
2003 Missohou, A., Dieng, A., Horst, P., Zarate, VA., Nesseim, T., Tchedre, K. :
Effect of dwarf (dw) and frizzle (F) genes on the performance of layers under Senegalese conditions. Trop Anim Health Prod 35:373-80, 2003. Pubmed reference: 14509543.
2002 Haunshi, S., Sharma, D., Nayal, L.M.S., Singh, D.P., Singh, R.V. :
Effect of naked neck gene (NA) and frizzle gene (F) on immunocompetence in chickens British Poultry Science 43:28-32, 2002. Pubmed reference: 12003334. DOI: 10.1080/00071660120109863.
1999 Yunis, R., Cahaner, A. :
The effects of the naked neck (Na) and frizzle (F) genes on growth and meat yield of broilers and their interactions with ambient temperatures and potential growth rate Poultry Science 78:1347-1352, 1999. Pubmed reference: 10536780.
1997 Kengaku, M., Twombly, V., Tabin, C. :
Expression of wnt and frizzled genes during chick limb bud development Cold Spring Harbor Symposia on Quantitative Biology 62:421-429, 1997. Pubmed reference: 9598377.
1994 Haarenkiso, A.V., Horst, P., Zarate, A.V. :
Direct and Indirect Effects of the Frizzle Gene (F) for the Productive Adaptability of Layers Archiv Fur Geflugelkunde 58:248-257, 1994.
1993 Shoffner, R.N., Otis, J.S., Garwood, V.A. :
Association of Dominant Marker Traits and Metric Traits in Chickens Poultry Science 72:1405-1410, 1993. Pubmed reference: 8378215.
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 Bordas, A., Merat, P. :
Growth, Egg Production and Feed Efficiency of Heterozygous Frizzle (Ff+) or Non-Frizzle (F+f+) Chicks and Hens at High Ambient Temperatures Archiv Fur Geflugelkunde 54:66-69, 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.
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.
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.
1935 Landauer, W., Aberle, S.D. :
Studies on the endocrine glands of frizzle fowl. American Journal of Anatomy 57:99-134, 1935.
1933 Hutt, F.B. :
Genetics of the Fowl. II. a Four-Gene Autosomal Linkage Group. Genetics 18:82-94, 1933. Pubmed reference: 17246679.
1930 Hutt, F.B. :
The genetics of the fowl. I. The inheritance of frizzled plumage Journal of Genetics 22:109-127, 1930.
Landauer, W., Dunn, L.C. :
The “Frizzle” character of fowls - Its expression and inheritance Journal of Heredity 21:291-305, 1930.
1909 Bateson, W. :
Mendel’s Principles of Heredity. Cambridge University Press, London :, 1909.
1906 Davenport, C.B. :
"Inheritance in poultry". Washington, D.C.: Carnegie Institution of Washington. Publication 52. :1-136, 1906.

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  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 08 Nov 2012
  • Changed by Frank Nicholas on 26 Nov 2012
  • Changed by Frank Nicholas on 06 Sep 2014