| 1. |
- Imsland, Freyja
(författare)
-
Monogenic Traits Associated with Structural Variants in Chicken and Horse : Allelic and Phenotypic Diversity of Visually Appealing Traits
- 2015
-
Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Domestic animals have rich phenotypic diversity that can be explored to advance our understanding of the relationship between molecular genetics and phenotypic variation. Since the advent of second generation sequencing, it has become easier to identify structural variants and associate them with phenotypic outcomes. This thesis details studies on three such variants associated with monogenic traits.The first studies on Rose-comb in the chicken were published over a century ago, seminally describing Mendelian inheritance and epistatic interaction in animals. Homozygosity for the otherwise dominant Rose-comb allele was later associated with reduced rooster fertility. We show that a 7.38 Mb inversion is causal for Rose-comb, and that two alleles exist for Rose-comb, R1 and R2. A novel genomic context for the gene MNR2 is causative for the comb phenotype, and the bisection of the gene CCDC108 is associated with fertility issues. The recombined R2 allele has intact CCDC108, and normal fertility.The dominant phenotype Greying with Age in horses was previously associated with an intronic duplication in STX17. By utilising second generation sequencing we have examined the genomic region surrounding the duplication in detail, and excluded all other discovered variants as causative for Grey.Dun is the ancestral coat colour of equids, where the individual is mostly pale in colour, but carries intensely pigmented primitive markings, most notably a dorsal stripe. Dun is a dominant trait, and yet most domestic horses are non-dun in colour and intensely pigmented. We show that Dun colour is established by radially asymmetric expression of the transcription factor TBX3 in hair follicles. This results in a microscopic spotting phenotype on the level of the individual hair, giving the impression of pigment dilution. Non-dun colour is caused by two different alleles, non-dun1 and non-dun2, both of which disrupt the TBX3-mediated regulation of pigmentation. Non-dun1 is associated with a SNP variant 5 kb downstream of TBX3, and non-dun2 with a 1.6 kb deletion that overlaps the non-dun1 SNP. Homozygotes for non-dun2 show a more intensely pigmented appearance than horses with one or two non-dun1 alleles. We have also shown by genotyping of ancient DNA that non-dun1 predates domestication.
|
|
| 2. |
- Jäderkvist Fegraeus, Kim, et al.
(författare)
-
The importance of the DMRT3 'Gait keeper' mutation on riding traits and gaits in Standardbred and Icelandic horses
- 2015
-
Ingår i: Livestock Science. - : Elsevier BV. - 1871-1413 .- 1878-0490. ; 176, s. 33-39
-
Tidskriftsartikel (refereegranskat)abstract
- Previous studies have shown that a single base-pair mutation, a change from cytosine (C) to adenine (A), in the DMRT3 gene affects both the ability to show ambling and lateral gaits in a wide range of horse breeds, as well as racing performance and trotting technique in Standardbred and Nordic trotters. The variant allele is present in gaited breeds but is absent, or found at a very low frequency, in breeds used for Western-European style riding and flat racing, like the Swedish Warmblood and Thoroughbreds as well as in draught horses. This indicates that the variant allele might have a negative effect on certain riding performance traits in horses. Therefore, one aim of this study was to investigate whether the DMRT3 variant affects canter in Standardbred trotters, and to test if heterozygous horses (CA) were better suited for Western-European style riding than homozygous horses (M). Riding traits were studied in 115 Standardbred horses, and a similar study was also performed with data from 55 Nordic trotters. The results showed that CA Standardbreds had significantly better balance in canter, both collected and extended canter, than M horses. The CA horses also got significantly higher scores for transitions in collected canter. For the rhythm we found no significant differences between the genotypes. In the Nordic trotters we were unable to establish any significant difference for canter ability. Another aim of this study was to investigate the effect of the variant allele on riding abilities and gaits in the Icelandic horse (n=446). Practically all horse breeds considered to be three-gaited have a CC genotype, in contrast Icelandic CC horses can show tolt We therefore tested whether the variant influenced how difficult it was to initiate tolt training for these horses. It was also investigated whether the variant affects which gaits Icelandic horses choose, both at liberty and during initial training. Icelandic CC horses were significantly more difficult to train to tolt compared to CA and AA horses. The M Icelandic horses showed the lateral gaits tolt and pace significantly more frequent, both at liberty and during initial training, than CA or CC horses. The majority of the Icelandic CC and CA horses chose trot at liberty and during initial training.
|
|
| 3. |
- Velie, Brandon, et al.
(författare)
-
Frequencies of polymorphisms in myostatin vary in Icelandic horses according to the use of the horses
- 2015
-
Ingår i: Animal Genetics. - : Wiley. - 0268-9146 .- 1365-2052. ; 46, s. 467-468
-
Tidskriftsartikel (refereegranskat)abstract
- The recent association of the myostatin gene (MSTN) with best race distance has provided valuable insight into the influence of MSTN on racing performance. However, the importance of MSTN in horses is unlikely to be limited to racing performance. First described in mice, the effects of mutations in MSTN have long been associated with heavily muscled cattle. In cattle, some of the morphological variability between breeds can be attributed to MSTN and its effects on muscle fiber development. As such, it is highly probable that MSTN polymorphisms influence not only racing performance, but also the general use of a horse or breed. This variability would likely be reflected in the genotype frequencies of horses used for specific purposes, as certain genotypes would undoubtedly yield more desirable phenotypes. The aim of this study was to explore this idea by estimating the genotype frequencies of three SNPs in MSTN in the Icelandic horse breed, a breed traditionally used for both meat production and riding.
|
|
