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OMIA 000810-9823 : Polydactyly in Sus scrofa

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

Category: 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: Recessive

Considered a defect: yes

Key variant known: no

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

Inheritance: Gorbach et al. (2010) provided convincing data that this disorder is inherited but could find no evidence of a single gene of large effect. A whole-genome scan with a SNP chip identified a 25 Mb region on chromosome SSC5 that appears to play some role in the development of this disorder.

Nikitin et al. (2021) report polydactyly in mini-pigs with a likely recessive mode of inheritance.

Mapping: Ma et al. (2020) sequenced "two PPD [preaxial polydactyly][Large White] families consisting of four affected and 20 normal individuals ... A strong association was identified at ABCC4 and it encodes a transmembrane protein involved in ciliogenesis. We found that the affected and normal individuals were highly differentiated at ABCC4, and all the PPD individuals shared long haplotype stretches as compared with the unaffected individuals. A highly differentiated missense mutation (I85T) in ABCC4 was observed at a residue from a transmembrane domain highly conserved among a variety of organisms."

Molecular basis: Ma et al. (2020) sequenced "two PPD [preaxial polydactyly][Large White] families consisting of four affected and 20 normal individuals ... A strong association was identified at ABCC4 and it encodes a transmembrane protein involved in ciliogenesis. We found that the affected and normal individuals were highly differentiated at ABCC4, and all the PPD individuals shared long haplotype stretches as compared with the unaffected individuals. A highly differentiated missense mutation (I85T) in ABCC4 was observed at a residue from a transmembrane domain highly conserved among a variety of organisms."

Breed: Large White (Pig) (VBO_0001163).

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.

2021 Nikitin, S.V., Knyazev, S.P., Trifonov, V.A., Proskuryakova, А.А., Shmidt, Y.D., Shatokhin, K.S., Zaporozhets, V.I., Bashur, D.S., Korshunova, E.V., Ermolaev, V.I. :
Unusual congenital polydactyly in mini-pigs from the breeding group of the Institute of Cytology and Genetics (Novosibirsk, Russia). Vavilovskii Zhurnal Genet Selektsii 25:652-660, 2021. Pubmed reference: 34782885. DOI: 10.18699/VJ21.074.
2020 Ma, C., Khederzadeh, S., Adeola, A.C., Han, X.M., Xie, H.B., Zhang, Y.P. :
Whole genome resequencing reveals an association of ABCC4 variants with preaxial polydactyly in pigs. BMC Genomics 21:268, 2020. Pubmed reference: 32228435. DOI: 10.1186/s12864-020-6690-1.
2010 Gorbach, D., Mote, B., Totir, L., Fernando, R., Rothschild, M. :
Polydactyl Inheritance in the Pig. J Hered 101:469-75, 2010. Pubmed reference: 20308080. DOI: 10.1093/jhered/esq037.
1963 Ptak, W. :
[Polydactyly in a wild boar] Acta Theriologica 6:312-314, 1963.
1959 Gaedtke, H. :
[Hereditary polydactyly in a pig family] Monatshefte fur Veterinarmedizin 14:57-58, 1959.
1938 Hughes, E. :
Polydactyly in swine Journal of Heredity 26:415-418, 1938.
1931 Curson, H. :
Polydactyly in a Springbok and a pig Anatomical Studies 19:853 only, 1931.

Edit History


  • Created by Frank Nicholas on 15 Jun 2010
  • Changed by Imke Tammen2 on 30 Jan 2022
  • Changed by Imke Tammen2 on 31 Jan 2022