OMIA:000810-9685 : Polydactyly in Felis catus |
In other species: rock pigeon , chicken , turkey , dog , horse , pig , Arabian camel , guanaco , llama , Western roe deer , cattle , goat , sheep , domestic guinea pig , alpaca , springbok
Categories: Limbs / digit / tail phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 174500 (trait) , 605522 (gene) , 188740 (trait)
Links to MONDO diseases: No links.
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 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
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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 434 | Polydactyly | LMBR1 | UK2 | regulatory | Naturally occurring variant | Felis_catus_9.0 | A2 | g.169532842T>A | regulatory variant in the ZPA regulatory sequence (ZRS); published as AGACACAG[A/T]AATGAG | 2008 | 18156157 | Genomic position in Felis_catus_9.0 provided by Joshua Khamis. | |||||
| 432 | Polydactyly | LMBR1 | Hw | regulatory | Naturally occurring variant | Felis_catus_9.0 | A2 | g.169532844T>C | regulatory variant in the ZPA regulatory sequence (ZRS); published as AGACAC[A/G]GAAATGAG | 2008 | 18156157 | Genomic position in Felis_catus_9.0 provided by Joshua Khamis, Leslie Lyons and Reuben Buckley. | |||||
| 433 | Polydactyly | SHH | UK1 | regulatory | Naturally occurring variant | Felis_catus_9.0 | A2 | g.169533066C>G | regulatory variant in the ZPA regulatory sequence (ZRS); published as CC[G/C]GTG | 2008 | 18156157 | Genomic position in Felis_catus_9.0 provided by Joshua Khamis, Leslie Lyons and Reuben Buckley. |
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
- Changed by Imke Tammen2 on 31 Aug 2021
- Changed by Imke Tammen2 on 26 Feb 2022