Mapping of Canine Models of Inherited Retinal Diseases.
Adv Exp Med Biol
; 1074: 257-264, 2018.
Article
en En
| MEDLINE
| ID: mdl-29721951
ABSTRACT
The gene/mutation discovery approaches for inherited retinal diseases (RDs) in the dog model have seen considerable development over the past 25 years. Initial attempts were focused on candidate genes, followed by genome-wide approaches including linkage analysis and DNA-chip-based genome-wide association study. Combined, there are as many as 32 mutations in 27 genes that have been associated with canine retinal diseases to date. More recently, next-generation sequencing has become one of the key methods of choice. With increasing knowledge of the molecular basis of RDs and follow-up surveys in different subpopulations, the conventional understanding of RDs as simple Mendelian traits is being challenged. Modifiers and involvement of multiple genes that alter the disease expression are complicating the prediction of the disease course. In this chapter, advances in the gene/mutation discovery approaches for canine RDs are reviewed, and a multigenic form of canine RD is discussed using a form of canine cone-rod dystrophy as an example.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedades de la Retina
/
Modelos Animales de Enfermedad
/
Enfermedades de los Perros
Tipo de estudio:
Prognostic_studies
Límite:
Animals
Idioma:
En
Revista:
Adv Exp Med Biol
Año:
2018
Tipo del documento:
Article
País de afiliación:
Estados Unidos