OMIA 001546-9031 : Diplopodia-1 in Gallus gallus

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: no

Species-specific symbol: dp-1

History: O'Hare et al. (2019): "The dp-1 mutation originated within a Single Comb White Leghorn commercial stock, was acquired by researchers at the University of California in 1941, and later incorporated into a congenic inbred line (a.k.a. UCD-Dp-1.003) in the late 1980s to early 1990s."

Mapping: Robb et al. (2011) mapped this trait to a 720kb region on chromosome GGA 1 (189,805,428 - 190,525,761). O'Hare et al. (2019) narrowed this to a region of 586kb. By sequencing this region in the UCD-Dp-1.003 congenic line, O'Hare et al. (2019) eventually narrowed the candidate region to a 5kb region that includes the genes MRE11 and GPR83, which they proposed as "high-priority candidates for the dp-1 mutation".

Molecular basis: As O'Hare et al. (2019) ruefully noted, "despite the advances of genomics and allied fields, this work affirms what other such research has shown, that finding the exact sequence element responsible for even a simply-inherited trait (single-gene autosomal recessive pattern) is not [necessarily] easily accomplished".

Clinical features: "Homozygotes (-/-) display moderate preaxial polydactly, dwarfing, some with exposed vicscera, occasional cleft palate, and shortened upper beak" Robb et al. (2011)

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.
2019 O'Hare, E.A., Antin, P.B., Delany, M.E. :
Two Proximally Close Priority Candidate Genes for diplopodia-1, an Autosomal Inherited Craniofacial-Limb Syndrome in the Chicken: MRE11 and GPR83. J Hered 110:194-210, 2019. Pubmed reference: 30597046. DOI: 10.1093/jhered/esy071.
2012 Robb, E.A., Delany, M.E. :
Case study of sequence capture enrichment technology: identification of variation underpinning developmental syndromes in an amniote model. Genes (Basel) 3:233-47, 2012. Pubmed reference: 24704915. DOI: 10.3390/genes3020233.
2011 Robb, EA., Gitter, CL., Cheng, HH., Delany, ME. :
Chromosomal mapping and candidate gene discovery of chicken developmental mutants and genome-wide variation analysis of MHC congenics. J Hered 102:141-56, 2011. Pubmed reference: 21273214. DOI: 10.1093/jhered/esq122.
1996 Rodriguez, C., Kos, R., Macias, D., Abbott, U.K., Belmonte, J.C.I. :
Shh, hoxd, BMP-2, and FGF-4 gene expression during development of the polydactylous Talpid(2), Diplopodia(1), and Diplopodia(4) mutant chick limb buds Developmental Genetics 19:26-32, 1996. Pubmed reference: 8792606. DOI: 10.1002/(SICI)1520-6408(1996)19:1<26::AID-DVG3>3.0.CO;2-2.
1974 MacCabe, J.A., Abbott, U.K. :
Polarizing and maintenance activities in 2 polydactylous mutants of fowl: diplopodia-1 and talpid-2 Journal of Embryology and Experimental Morphology 31:735-746, 1974.
Taylor, LW. :
Further studies on diplopodia. VI. Segregation of diplopod embryos from chickens heterozygous for both dp-1 and dp-3 genes. Can J Genet Cytol 16:121-35, 1974. Pubmed reference: 4407166.
1959 Abbott, U.K. :
Further studies on diplopodia. III. The relationship between expressivity and penetrance in selected lines and crosses Journal of Genetics 56:197-225, 1959.
Abbott, U.K. :
Further studies on diplopodia. II. Embryological features Journal of Genetics 56:179-196, 1959.
Taylor, L.W., Abbott, U.K., Gunns, C.A. :
Further studies on diplopodia 1. Modification of phenotypic segregation ratios by selection Journal of Genetics 56:161-178, 1959.
1958 Abbott, U.K. :
Further studies on Diplopodia IV: Breeding performance of a presumably homozygous diplopod male. Proceedings. 10th int. Congr. Genet. 2:290-291, 1958.
1956 Landauer, W. :
A second diplopod mutation in the fowl Journal of Heredity 47:57-63, 1956.
1947 Taylor, LW., Gunns, CA. :
Diplopodia; a lethal form of polydactyly in chickens. J Hered 38:67-76, 1947. Pubmed reference: 20296125.

Edit History


  • Created by Frank Nicholas on 25 Feb 2011
  • Changed by Frank Nicholas on 17 Oct 2011
  • Changed by Frank Nicholas on 14 May 2020