OMIA 000810-9685 : Polydactyly in Felis catus

In other species: rock pigeon , chicken , turkey , dog , horse , pig , Arabian camel , guanaco , Western roe deer , cattle , goat , sheep , domestic guinea pig , springbok

Possibly relevant human trait(s) and/or gene(s) (MIM number): 174500

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Dominant

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2008

Cross-species summary: Often called preaxial polydactyly (PPD)

History: This trait occurs at a very high frequency in the population of cats that has long existed in the grounds of Ernest Hemingway's house in Key West, Florida (www.hemingwayhome.com). These "Hemingway" cats descend from a cat given to Hemingway by a ship's captain in the 1930s (Gwin, 2007).

Molecular basis: Polydactyly results from faults in the regulation of the developmental gene Sonic Hedgehog (SHH), which is expressed only at the border of the posterior limb bud, in a region called the zone of polarizing activity (ZPA). The faults in regulation result from mutations in an enhancer located in exon 5 of the LMBR1 gene, located about 1 MB upstream of SHH. The enhancer is called the ZPA regulatory sequence (ZRS). Thus polydactyly results from mutations in ZRS, which affect expression of SHH in the developing limb bud. Lettice et al. (2008) showed that polydactyly in cats is due to point mutations in the control region ZRS, whose product regulates the transcription and translation of the signalling molecule sonic hedgehog (SHH). All of the Hemingway polydactylous cats examined had the same point mutation; British polydactylous cats had two different point mutations in the same gene. Mutations in ZRS in humans and mice also give rise to polydactyly.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SHH sonic hedgehog Felis catus - no genomic information (-..-) SHH Homologene, Ensembl, NCBI gene

Variants

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.

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
Polydactyly SHH regulatory c.257G>C CC(G-C)GTG 2008 18156157
Polydactyly SHH regulatory c.479A>G AGACAC(A-G)GAAATGAG 2008 18156157
Polydactyly SHH regulatory c.481A>T AGACACAG(A-T)AATGAG 2008 18156157

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.
2008 Lettice, LA., Hill, AE., Devenney, PS., Hill, RE. :
Point mutations in a distant sonic hedgehog cis-regulator generate a variable regulatory output responsible for preaxial polydactyly. Hum Mol Genet 17:978-85, 2008. Pubmed reference: 18156157. DOI: 10.1093/hmg/ddm370.
2007 Gwin, P. :
Hemingway's cats: to have or have not? National Geographic 211:30, 2007.
1995 Wenthe, M., Lazarz, B. :
A case of atavistic polydactyly at the hind limb of a cat [German] Kleintierpraxis 40:617-619, 1995.
1992 Wittmann, F. :
Polydactylism in a Cat Praktische Tierarzt 73:709, 1992.
1976 Todd, NB., Todd, LM. :
Mutant allele frequencies among domestic cats in some eastern areas of Canada: regional homogeneity of factors in Canadian Atlantic Provinces and the French colony of Saint Pierre. J Hered 67:368-72, 1976. Pubmed reference: 1021595.
1968 Sis, RF., Getty, R. :
Polydactylism in cats. Vet Med Small Anim Clin 63:948-51, 1968. Pubmed reference: 5188319.
1966 Todd, NB. :
The independent assortment of dominant white and polydactyly in the cat. J Hered 57:17-18, 1966. Pubmed reference: 5917255.
1964 Todd, N.B., Jones, T.C. :
On independent assortmant of dominant white and polydactyly in the cat Journal of Cat Genetics 1:16-17, 1964.
1961 Chapman, V.A., Zeiner, F.N. :
The anatomy of polydactylism in cats with observations on genetic control Anatomical Record 141:205-217, 1961. Pubmed reference: 13878202.
1947 Danforth, CH. :
Heredity of polydactyly in the cat. J Hered 38:107-12, 1947. Pubmed reference: 20242531.
Danforth, CH. :
Morphology of the feet in polydactyl cats. Am J Anat 80:143-71, 1947. Pubmed reference: 20286212.
1909 Bateson, W. :
Mendel’s Principles of Heredity. Cambridge University Press, London :, 1909.
1904 Davenport, C.B. :
Wonder horses and Mendelism. Science 19:151-3, 1904. Pubmed reference: 17839722. DOI: 10.1126/science.19.473.151.
1902 Torrey, HB. :
Prepotency in polydactylous cats Science 16:554-5, 1902. Pubmed reference: 17833849. DOI: 10.1126/science.16.405.554.
1873 Tait, L. :
Note on a Polydactylous Cat from Cookham-Dean. Nature 7:323 only, 1873. DOI: 10.1038/007323b0 .

Edit History


  • Created by Frank Nicholas on 19 Nov 2010
  • Changed by Frank Nicholas on 29 Sep 2011
  • Changed by Frank Nicholas on 30 Sep 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 02 May 2012