Histological, molecular and transcriptional analysis of PIS goats

Abstract The aim of the present study was to evaluate the level of gonad masculinization in PIS individuals of different age and the expression profile of genes potentially involved in this process. The study involved a total of eight White Improved goats, 1–12 months of age, with different proportion of Saanen and Alpine genes. A control group of three horned and three polled male kids at an analogous age was included in the study. Molecular analysis showed that all individuals with developmental changes in the reproductive tract were the SRY(−) females, which has already been described in PIS goats. Moreover, the PIS deletion was found in the experimental group individuals. Histological analysis confirmed in seven cases the presence of testes and in one case the presence of ovotestis . The expression pattern of the SOX9 and PISRT1 genes in the gonads obtained from the 1- and 3-month-old individuals with sex reversal as well as from horned and polled male kids at an analogous age was similar, whereas in the hermaphrodite's gonads, transcriptional activity of the SOX9 and PISRT1 genes was not observed. A high mRNA level of PISRT1 was found in the testes of the horned male. So what is the role of the latter in male gonads? Although the molecular cause of the discussed syndrome in goats is known, it seems possible that the effect of this long deletion on the development of reverse phenotype may be more complex.