Chromosomal Mapping and Candidate Gene Discovery of Chicken Developmental Mutants and Genome-Wide Variation Analysis of MHC Congenics

Robb, Elizabeth A.; Gitter, Cynthia L.; Cheng, Hans H.; Delany, Mary E.

doi:10.1093/jhered/esq122

Cited by 17 publications

(77 citation statements)

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“…The SNP analysis and causative region (CR) identification (maximum and minimum causative region: CR max and CR min , respectively) were defined according to the procedure outlined in Robb et al [2011]. The SNPs used to fine-map the Po.003 region were selected from the polymorphic Po.003 60K array CR max SNPs [Robb et al, 2011].…”

Section: Snp Analysis Causative Region Identification and Zrs Alignmentmentioning

confidence: 99%

“…The SNPs used to fine-map the Po.003 region were selected from the polymorphic Po.003 60K array CR max SNPs [Robb et al, 2011]. Additionally, 2 sets of primers for SNP ss161109890 [Dorshorst et al, 2010] were produced for sequencing the 794-bp chicken ZRS element in both genetic lines (UCDPo.003 and UCD-Silkie).…”

Section: Snp Analysis Causative Region Identification and Zrs Alignmentmentioning

confidence: 99%

“…Pitel et al [2000] mapped the dominant form of Po, showing incomplete penetrance, to GGA2p using microsatellite markers; this research allowed for the connection between the classical genetic map and the molecular genetic map. In the UCD-Po.003 congenic inbred line, the polydactylous phenotype is inherited in an autosomal dominant fashion and is similarly linked to GGA2p [Robb et al, 2011]. Within the UCD-Po.003 line, polydactyl expression is variable as homozygous ( Po .003/ Po .003) and heterozygous ( Po .003/ + ) mutants may have an additional preaxial digit (single-digit duplication) on one or both feet [Robb et al, 2011], in 1 of 2 digit patterns, in addition to a possible preaxial digit on one, none, or both wings.…”

mentioning

confidence: 99%

“…Further, as proposed in Robb et al [2011], we tested whether a chromosomal inversion was responsible for maintaining the large maximum causative region (CR max : 6.34 Mb) using GTG-banding and fluorescence in situ hybridization (FISH) and employing GGA2p BAC and ZRS probes. Lastly, another subset of Po.003 individuals were studied to identify whether any additional recombination events occurred 2 generations after a new breeding scheme was introduced.…”

mentioning

confidence: 99%

“…Unfortunately, the origin as to breed and source (research, commercial or hobby stock) of the Po mutant used to generate the UCD-Po.003 genetic line is unknown. In the late 1980s and early 1990s, the mutation was incorporated into a breeding program to create a congenic line using UCD-003, a highly inbred (F 1 0.99) Single Comb White Leghorn genetic line [Abplanalp, 1992;Pisenti et al, 1999;Robb et al, 2011]. Here we describe studies conducted utilizing samples from the UCD-Po.003 genetic line to (1) establish whether an inversion within GGA2p is responsible for maintaining the region containing the polydactyl mutation, (2) determine whether the SNP ss161109890 [Dorshorst et al, 2010] is present within the ZRS element, (3) discover additional polymorphisms within the ZRS element to explore the genetic mechanism causing the preaxial polydactyl phenotypic variation, and (4) identify whether additional recombination events reduce the size of the causative (linked) region.…”

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confidence: 99%

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The Expression of Preaxial Polydactyly Is Influenced by Modifying Genetic Elements and Is Not Maintained by Chromosomal Inversion in an Avian Biomedical Model

Robb¹,

Delany²

2012

Cytogenet Genome Res

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Polydactyly (Po) is a common mutation found in many vertebrates. The UCD-Po.003 congenic chicken line was previously characterized for Po inheritance (autosomal dominant) and the mutation was mapped to chromosome 2p. Here, we describe for the first time the range and variability of the phenotype in this congenic line. Further, we studied the hypothesis that a chromosomal inversion was responsible for the maintenance of a large (6.3 Mb) candidate gene region. Fluorescence in situ hybridization employing BACs encompassing a 10.7-Mb region of GGA2p showed that the Po chromosome was normal, i.e. exhibits the wild-type BAC order. Continued fine-mapping along with a change in breeding strategy reduced the size of the causative region to 1.43 Mb. Recent research indicates that the cause of preaxial Po resides within a 794-bp highly conserved zone of polarizing activity regulatory sequence (ZRS) element located in intron 5 of the LMBR1 gene; however, the ZRS polymorphism of interest is found in some but not all breeds of polydactylous chicken. Therefore, we sequenced the ZRS in 101 heterozygous and 30 unaffected (wild-type) individuals to establish the relevance of this region to the Po condition in the UCD-Po.003 congenic line. A single point mutation (C/A at coordinate GGA2p: 8,414,121) within the ZRS segregated with carrier status. The polydactylous UCD-Silkie line also maintains this SNP in addition to a single base deletion. An inheritance analysis of the phenotypic variation in UCD-Po.003 suggests recessive epistasis as the mode of inheritance for the additional modifying genetic elements, residing outside the ZRS, to impact the preaxial polydactyl phenotype. These results contribute to our understanding of the cause of Po in an important vertebrate model.

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Section: Snp Analysis Causative Region Identification and Zrs Alignmentmentioning

confidence: 99%

Section: Snp Analysis Causative Region Identification and Zrs Alignmentmentioning

confidence: 99%

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confidence: 99%

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confidence: 99%

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