OMIA 000006-9031 : Achondroplasia, creeper in Gallus gallus

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 112500 , 607778

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Semi-Dominant

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2016

Species-specific symbol: Cp

History: This trait was one of the first pair of loci in farm animals to be shown to be linked autosomally, when Serebrovsky and Petrov (1928) reported a recombination fraction of 8% between this locus and Rose comb (OMIA 000884-9031). Linkage between these two loci was confirmed (with a smaller recombination fraction) by Landauer (1932, 1933) and Taylor (1934).

Inheritance: As summarised by Jin et al. (2016): "Genetic studies suggested that the Creeper trait was determined by a single autosomal dominant semi-lethal gene (Cp) in chicken. The Cp/Cp homozygotes are lethal during early embryonic development while the heterozygotes (Creeper) are viable with pronounced chondrodystrophy characteristic" (Cutler, 1925; Landauer and Dunn, 1930; Rudnick and Hamburger, 1940)

Molecular basis: By comparing the whole-genome sequence of 6 pairs of full-sibs from the Chinese Xingyi bantam breed, each pair comprising the same contrasting Cp genotypes (Cp/+ vs +/+), Jin et al. (2016) identified "a 11,896 bp large deletion region (chr7: 21,798,705-21,810,600) covering the entire Indian hedgehog (IHH) gene" as the likely causal mutation. Subsequent PCR genotyping for the deletion in "511 samples (embryos, n = 130; chickens, n = 381)" from Cp/+ x Cp/+ matings showed a complete association between genotype and Creeper phenotype. The authors note that "As one of the key genes driving animal body development, IHH is conserved in gene function and signaling pathway in the major animal clades and is required for embryonic bone formation in development".

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
IHH Indian hedgehog Gallus gallus 7 NC_006094.5 (22301660..22309634) IHH Homologene, Ensembl, NCBI gene

Variants

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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
Chinese Xingyi Achondroplasia, creeper IHH deletion, gross (>20) 7 g.21798705_21810600del "a 11,896bp large deletion region (chr7: 21,798,705-21,810,600) covering the entire Indian hedgehog (IHH) gene" 2016 27439785

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.
2016 Jin, S., Zhu, F., Wang, Y., Yi, G., Li, J., Lian, L., Zheng, J., Xu, G., Jiao, R., Gong, Y., Hou, Z., Yang, N. :
Deletion of Indian hedgehog gene causes dominant semi-lethal Creeper trait in chicken. Sci Rep 6:30172, 2016. Pubmed reference: 27439785. DOI: 10.1038/srep30172.
2015 Gordon, R., Thomas, R., Foster, A. :
The health impact of selective breeding in poultry: A probable case of 'creeper' chicken (Gallus gallus) from 16th-century Chester, England. Int J Paleopathol 9:1-7, 2015. Pubmed reference: 29539435. DOI: 10.1016/j.ijpp.2014.11.003.
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.
1976 Fujio, Y. :
Maternal effects on expression of lethality in creeper chicken Japanese Journal of Genetics 51:347-354, 1976. DOI: 10.1266/jjg.51.347.
1974 Fujio, Y., Shibuya, T. :
Expression of lethality caused by creeper gene in chicken Japanese Journal of Genetics 49:87-91, 1974. DOI: 10.1266/jjg.49.87.
1972 Shibuya, T., Fujio, Y., Kondo, K. :
Studies on action of creeper gene in Japanese chicken Japanese Journal of Genetics 47:23-32, 1972. DOI: 10.1266/jjg.47.23.
1971 Dinner, B.J. :
Chemical analysis of embryonic creeper chicken tibia (conference abstract) Journal of Dental Research 50:704 only, 1971. DOI: 10.1177/00220345710500032601.
1969 Wallace, H., Clyman, R.I., Pierro, L.P. :
Nucleic acid deficiency in the prothanic homozygous mutant of creeper fowl. J Exp Zool 172:245-52, 1969. Pubmed reference: 5372813. DOI: 10.1002/jez.1401720209.
1968 Elmer, W.A. :
Experimental analysis of the creeper condition in chickens. Effect of embryo extract on elongation, protein content, and incorporation of amino acids by cartilaginous tibiotarsi. Dev Biol 18:76-92, 1968. Pubmed reference: 5669504.
Elmer, W.A. :
In vitro and in situ analyses of the inhibitory effect of creeper tissues. J Exp Zool 169:381-9, 1968. Pubmed reference: 5752052. DOI: 10.1002/jez.1401690311.
Martin, C. :
[Action of paraminobenzenesulfamide and nicotinamide on the development of the embryos of Leghorn and Creeper strain chickens]. C R Acad Sci Hebd Seances Acad Sci D 266:1320-2, 1968. Pubmed reference: 4232099.
1964 Elmer, W.A., Pierro, L.J. :
The Creeper trait in chickens and growth of tibiotarsi invitro (conference abstract) American Zoologist 4:381 only, 1964. DOI: 10.1093/icb/4.4.37.
1963 Kieny, W., Kieny, M. :
[Research on the nature of a factor inhibiting the growth of long bones in the Creeper breed of chicken]. Dev Biol 7:324-41, 1963. Pubmed reference: 14032521.
1949 Warren, DC. :
Linkage Relations of Autosomal Factors in the Fowl. Genetics 34:333-50, 1949. Pubmed reference: 17247319.
1944 Landauer, W. :
Length of survival of homozygous creeper fowl embryos. Science 100:553-4, 1944. Pubmed reference: 17758679. DOI: 10.1126/science.100.2607.553.
1943 Landauer, W., Bliss, C.I. :
Studies on the Creeper Fowl. XV. Maternal Inheritance in Survival of Embryos from Reciprocal Crosses Involving the Creeper Factor. Genetics 28:218-26, 1943. Pubmed reference: 17247083.
1941 Cairns, J.M. :
The early lethal action of the homozygous creeper factor in the chick Journal of Experimental Zoology 88:481–503, 1941.
1940 Rudnick, D., Hamburger, V. :
On the Identification of Segregated Phenotypes in Progeny from Creeper Fowl Matings. Genetics 25:215-24, 1940. Pubmed reference: 17246966.
1938 Warren, D.C. :
Mapping the genes of the fowl (abstract) Genetics 23:174 only, 1938.
1934 Hutt, F.B. :
Inherited lethal characters in domestic animals Cornell Veterinarian 24:1-25, 1934.
Taylor, L.W. :
Creeper and single-comb linkage in the fowl. Journal of Heredity 25:205-206, 1934.
1933 Landauer, W. :
Creeper and single-comb linkage in fowl. Nature 132:606 only, 1933.
1932 Landauer, W. :
Studies in the Creeper Fowl. III. The early development and lethal expression of homo zygous Creeper embryos. Journal of Genetics 25:367-394, 1932.
Landauer, W. :
Studies on the Creeper Fowl. V. The linkage of the genes for Creeper and Single-comb. Journal of Genetics 26:285-290, 1932.
1930 Dunn, L.C., Landauer, W. :
Further data on a case of autosomal linkage in the domestic fowl Journal of Genetics 22:95-101, 1930.
Landauer, W., Dunn, L.C. :
Studies on the Creeper fowl. I. Genetics Journal of Genetics 23:397-413, 1930.
1928 Serebrovsky, A.S., Petrov, S.G. :
A case of close autosomal linkage in the fowl Journal of Heredity 19:305-306, 1928.
1926 Dunn, L.C., Landauer, W. :
The lethal nature of the "creeper" variation in the domestic fowl. American Naturalist 60:574-575, 1926.
1925 Cutler, I.E. :
Reptilian fowls - a study in atavistic heredity Journal of Heredity 16:353-356, 1925.

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  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 05 Jan 2013
  • Changed by Frank Nicholas on 10 Jan 2013
  • Changed by Frank Nicholas on 28 Apr 2016
  • Changed by Frank Nicholas on 04 Aug 2016