单基因遗传病的研究策略.2013.pptVIP

Thank you! * * * First I’d like to show you the structure of Human Pax6 Gene and its cDNA. This gene consists of 13 exons. From the N to the C-terminal sequentially, Pax6 has a paired domain, a homeodomain and a trans-activation region (7, 8). The paired domain along with the homeodomain is the structural basis for binding of Pax6 to the target DNA, and the trans-activation region is able to activate the expression of multiple down-stream genes in the cell . * Pax6 is a transcription factor and is essential of the development of the eye and central nervous system . Homozygous Pax6 mutant ani