Deletion of an Enhancer in FGF5 Is Associated with Ectopic Expression in Goat Hair Follicles and the Cashmere Growth Phenotype

In the 2020 study involving 115 domestic goats from China, Nepal, and Pakistan, researchers identified a genetic variant associated with cashmere growth in goats. The study included 51 cashmere goats and 64 non-cashmere goats and revealed distinct genetic clusters by geographic location, with some genetic admixture between Chinese and Nepalese goats. A 505-base pair (bp) insertion-deletion (indel) variant in the fibroblast growth factor 5 gene (FGF5) was found to be strongly associated with cashmere growth, with the insertion variant acting as an enhancer for transcription factor binding. This resulted in increased transcription of the FGF5 gene in non-cashmere goats. The findings suggest that the indel mutation in the FGF5 gene could be used as a molecular marker for breeding cashmere goats, aiding in the sustainable use and conservation of goat genetic resources.