OMIA 002270-8932 : Ptilopody (Feathered shank), PITX1-related in Columba livia

In other species: chicken

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 119800 , 186550

Mendelian trait/disorder: yes

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2016

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 (this entry) and forelimb-specific transcription factor Tbx5" (see OMIA 000839-8932). These same authors reported that the QTL in LG20 (in which the gene Pitx1 resides) "contained a 44-kb deletion (from 6.719–6.763 Mb) that was homozygous in 10, and heterozygous in 2 of the 15 feather-footed birds". In other words, Domyan et al. (2016) reported a deletion variant for feathered shank that is very near to the gene Pitx1.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PITX1 paired-like homeodomain 1 Columba livia - no genomic information (-..-) PITX1 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
Feathered shank PITX1 deletion, gross (>20) "a 44-kb deletion (from 6.719–6.763 Mb)" (Domyan et al., 2016) 2016 26977633

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.
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 :, 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