OMIA:000839-8932 : Ptilopody (Feathered shank), TBX5-related in Columba livia (rock pigeon)

In other species: chicken

Categories: Limbs / fins / digit / tail phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 142900 (trait) , 601620 (gene)

Mendelian trait/disorder: yes

Considered a defect: no

Key variant known: no

Inheritance: As summarised by Domyan et al. (2016), "Classical studies in pigeon suggest two major-effect loci – grouse (gr) and Slipper (Sl) – are responsible for most of the variation in foot feathering (Doncaster, 1912; Wexelsen, 1934; Hollander, 1937; Levi, 1986). Through a combination of genetic, genomic, and developmental approaches, our data implicate regulatory mutations in the limb outgrowth and identity genes Pitx1 and Tbx5 as the molecular identities of the gr and Sl locus, respectively".

Mapping: Domyan et al. (2016) "identified [2 major QTL] in two linkage groups (LG11 and LG20) that had significant effects on three different aspects of foot feathering". In addition, using "probabilistic whole-genome scans of allele frequency differentiation across a genetically and phenotypically diverse panel of breeds by comparing 15 feather-footed birds (4 groused and 11 muffed) to 28 scale-footed birds", the same authors showed that the region corresponding to LG11 includes a 44kb deletion adjacent to the Pitx1 gene, and that the LG20 region includes the Tbx5 gene. As these authors noted, "These regions were especially intriguing because these two genes encode key transcriptional regulators of forelimb (Tbx5) and hindlimb (Pitx1) identity and development".

Molecular basis: Domyan et al. (2016) "found that feathered feet in pigeons result from a partial transformation from hindlimb to forelimb identity mediated by cis-regulatory changes in the genes encoding the hindlimb-specific transcription factor Pitx1 (see OMIA 002270-8932) and forelimb-specific transcription factor Tbx5 (this entry). We also found that ectopic expression of Tbx5 is associated with foot feathers in chickens, suggesting similar molecular pathways underlie phenotypic convergence between these two species".

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TBX5 T-box 5 Columba livia 17 NC_088618.1 (11325249..11280566) TBX5 Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2020). OMIA:000839-8932: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

2020 Bortoluzzi, C., Megens, H.J., Bosse, M., Derks, M.F.L., Dibbits, B., Laport, K., Weigend, S., Groenen, M.A.M., Crooijmans, R.P.M.A. :
Parallel genetic origin of foot feathering in birds. Mol Biol Evol 37:2465-2476, 2020. Pubmed reference: 32344429. DOI: 10.1093/molbev/msaa092.
Li, J., Lee, M., Davis, B.W., Lamichhaney, S., Dorshorst, B.J., Siegel, P.B., Andersson, L. :
Mutations upstream of the TBX5 and PITX1 transcription factor genes are associated with feathered legs in the domestic chicken. Mol Biol Evol , 2020. Pubmed reference: 32344431. DOI: 10.1093/molbev/msaa093.
2019 Boer, E.F., Van Hollebeke, H.F., Park, S., Infante, C.R., Menke, D.B., Shapiro, M.D. :
Pigeon foot feathering reveals conserved limb identity networks. Dev Biol 454:128-144, 2019. Pubmed reference: 31247188. DOI: 10.1016/j.ydbio.2019.06.015.
2016 Domyan, E.T., Kronenberg, Z., Infante, C.R., Vickrey, A.I., Stringham, S.A., Bruders, R., Guernsey, M.W., Park, S., Payne, J., Beckstead, R.B., Kardon, G., Menke, D.B., Yandell, M., Shapiro, M.D. :
Molecular shifts in limb identity underlie development of feathered feet in two domestic avian species. Elife 5:e12115, 2016. Pubmed reference: 26977633. DOI: 10.7554/eLife.12115.
1986 Levi, W.M. :
The Pigeon. Levi Publishing Co., Inc: Sumter , 1986.
1937 Hollander, W.F. :
Hereditary Interrelationships of Certain Factors in Pigeons. Department of Genetics. University of Wisconsin :pp. 67, 1937.
1934 Wexelsen, H. :
Types of leg feathering in pigeons Hereditas 18:192-198, 1934.
1912 Doncaster, L. :
Notes on inheritance of colour and other characters in pigeons. Journal of Genetics 2:89-98, 1912. DOI: 10.1007/BF02984337.

Edit History

  • Created by Frank Nicholas on 24 May 2020
  • Changed by Frank Nicholas on 03 Jun 2020
  • Changed by Frank Nicholas on 09 Jun 2020