Genetic testing for phenotype-causing variants in sheep and goats

This review gives an overview on ovine and caprine defects/disorders, disease predispositions, production traits and coat colours for which causal gene variants are known. Most phenotypes are inherited autosomal-recessive or dominant and in the majority are caused by single nucleotide substitutions or deletions. Causative sequence variants mainly were identified by sequencing candidate genes in the past, and recently also by whole genome analysis using the ovine 50k SNP chip. While PCR-fragment length polymorphism analyses were developed for the majority of causative sequence variants, other low- to medium-throughput PCR-based methods as PCR-single strand conformation analysis and allele-specific PCR were also established frequently. For processing large sample numbers, high-throughput methods as MALDI-ToF MS or real-time PCR are available for some gene variants. Further progress in development of ovine and caprine genome sequences and SNP chips will be beneficial for the discovery of additional causative variants in these two species.