ABSTRACT
As we have discussed in the preceding chapters, the regulation of gene expression in higher eukaryotes is a highly complex process. It is not surprising, therefore, that this process can go wrong, and the identification of the molecular basis of many human diseases has shown some to be due to defects in gene regulation. A number of different processes have been shown to be affected in different human diseases and these will be discussed in turn in this section (for reviews see Engelkamp and Van Heyningen, 1996; Latchman, 1996) (Fig. 9.1). In discussing these diseases, it should be noted that only gene mutations which are compatible with life will manifest as human diseases, however severe these may be. Mutations in factors which are incompatible with survival at least to birth will evidently not be detected and it is likely that many mutations affecting gene regulation fall into this category.
