Naturally occurring genetic diseases caused by de novo variants in domestic animals

With the advent of next-generation sequencing, an increasing number of cases of de novo variants in domestic animals have been reported in scientific literature primarily associated with clinically severe phenotypes. The emergence of new variants at each generation is a crucial aspect in understandi...

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Bibliographic Details
Published in:Animal genetics 2024-06, Vol.55 (3), p.319-327
Main Authors: Azevedo, Luísa, Amaro, Andreia P, Niza-Ribeiro, João, Lopes-Marques, Mónica
Format: Article
Language:English
Subjects:
Animal diseases
Animal models
Animals
Comparative studies
Domestic animals
Genes
Genetic disorders
Phenotypes
Sequences
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Summary:With the advent of next-generation sequencing, an increasing number of cases of de novo variants in domestic animals have been reported in scientific literature primarily associated with clinically severe phenotypes. The emergence of new variants at each generation is a crucial aspect in understanding the pathology of early-onset diseases in animals and can provide valuable insights into similar diseases in humans. With the aim of collecting deleterious de novo variants in domestic animals, we searched the scientific literature and compiled reports on 42 de novo variants in 31 genes in domestic animals. No clear disease-associated phenotype has been established in humans for three of these genes (NUMB, ANKRD28 and KCNG1). For the remaining 28 genes, a strong similarity between animal and human phenotypes was recognized from available information in OMIM and OMIA, revealing the importance of comparative studies and supporting the use of domestic animals as natural models for human diseases, in line with the One Health approach.
ISSN:0268-9146
1365-2052
DOI:10.1111/age.13403