1. |
- Karlsson, Elinor K., et al.
(författare)
-
Efficient mapping of mendelian traits in dogs through genome-wide association
- 2007
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 39:11, s. 1321-1328
-
Tidskriftsartikel (refereegranskat)abstract
- With several hundred genetic diseases and an advantageous genome structure, dogs are ideal for mapping genes that cause disease. Here we report the development of a genotyping array with |[sim]|27,000 SNPs and show that genome-wide association mapping of mendelian traits in dog breeds can be achieved with only |[sim]|20 dogs. Specifically, we map two traits with mendelian inheritance: the major white spotting (S) locus and the hair ridge in Rhodesian ridgebacks. For both traits, we map the loci to discrete regions of <1 Mb. Fine-mapping of the S locus in two breeds refines the localization to a region of |[sim]|100 kb contained within the pigmentation-related gene MITF. Complete sequencing of the white and solid haplotypes identifies candidate regulatory mutations in the melanocyte-specific promoter of MITF. Our results show that genome-wide association mapping within dog breeds, followed by fine-mapping across multiple breeds, will be highly efficient and generally applicable to trait mapping, providing insights into canine and human health.
|
|
2. |
- Salmon Hillbertz, Nicolette H. C., et al.
(författare)
-
Duplication of FGF3, FGF4, FGF19 and ORAOV1 causes hair ridge and predisposition to dermoid sinus in Ridgeback dogs
- 2007
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 39:11, s. 1318-1320
-
Tidskriftsartikel (refereegranskat)abstract
- The dorsal hair ridge in Rhodesian and Thai Ridgeback dogs is caused by a dominant mutation that also predisposes to the congenital developmental disorder dermoid sinus. Here we show that the causative mutation is a 133-kb duplication involving three fibroblast growth factor (FGF) genes. FGFs play a crucial role in development, suggesting that the ridge and dermoid sinus are caused by dysregulation of one or more of the three FGF genes during development.
|
|
3. |
- Salmon Hillbertz, Nicolette H. C.
(författare)
-
Inheritance of dermoid sinus in the Rhodesian ridgeback
- 2005
-
Ingår i: Journal of Small Animal Practice. - : Wiley. - 0022-4510 .- 1748-5827. ; 46:2, s. 71-4
-
Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVES: TO define the mode of inheritance of dermoid sinus.METHODS: A chi-squared analysis was performed on data from 46 litters produced between 1990 and 2001. Data were corrected to avoid bias in the segregation ratio.RESULTS: In data from 57 litters (n=492), 82 dermoid sinus positive offspring were observed. The frequency of affected offspring in the Swedish Rhodesian ridgeback population is estimated to be between 8 and 10 per cent.CLINICAL SIGNIFICANCE: Bias in heredity pattern may be caused by undetected dermoid sinus type V. Improved clinical diagnosis of all dermoid sinus types is therefore crucial.
|
|