Characterization and expression analysis of KIT and MITF-M genes

M.ANELLO,M.S.DAVERIO,M:B:SILBESTRO, L.VIDAL-RIOJA AND F.DI ROCCO

ANIMAL GENETICS

WILEY-BLACKWELL PUBLISHING, INC

Lugar: Londres; Año: 2019

0268-9146

Summary The llama (Lama glama) is a fiber-producing species that presents a wide range of coat colors,among which white is one of the most important for the textile industry. However, there islittle information about the molecular mechanisms that control the white phenotype in thisspecies. In domestic mammals, a white coat is usually produced by mutations in the KITproto-oncogene receptor tyrosine kinase (KIT) and microphthalmia-associated transcription factor(MITF) genes. In this work we have sequenced and described the coding regions of KIT andMITF-M, the melanocyte-specific isoform, and the two transcriptional variants MITF-M()and MITF-M(+). Moreover, we studied the expression of these genes in the skin of white andcolored llamas. Although no variants were revealed to be associated with white coat color,significant differences between phenotypes were observed in the expression levels of KIT andMITF-M. Interestingly, white llamas expressed less MITF-M(+) than did colored ones, whichis consistent with a consequent reduction in the synthesis of melanin. Even though ourresults indicate that downregulation of KIT and MITF-M expression is involved in whitephenotype production in llamas, the causative gene of white coat color remains unknown