| Molecular Note | A 4 kb region, including the last 92 bp of exon 9 and the entire exon 10, was replaced with a promoterless LacZ-Neo fusion gene (beta-galactosidase reporter). This deletion includes exon 9 sequences that encode Asp395, which forms part of the catalytic His-Asp-Ser triad. The in-frame insertion of the LacZ-Neo fusion gene leads to the expression of a fusion protein consisting of the first 377 amino acids fused to beta-galactosidase. High and moderate levels of RNA transcripts were detected in urinary bladder, skin, tongue, seminal vesicle, coagulating gland, and prostate gland. No RNA transcripts are detectable in nervous tissue, liver, bone marrow, small intestine, or cecum. LacZ expression was detected in many tissues examined, particularly in the epidermis and urinary bladder. No LacZ expression was detected in spinal cord, sciatic nerve, spleen, lymph nodes, bone marrow, aorta, liver, pancreas, pituitary gland, adrenal gland, skeletal muscle, testis, ovary, or uterus. Detailed X-gal staining analysis of young adult heterozygotes revealed particularly strong expression in multi-layered squamous epithelium, including the epidermis, hair follicles, oral epithelium, cornea and upper digestive tract, high levels of expression in the transitional epithelium of the bladder, and much lower levels in the prostate, heart, intestine, kidney and thymus. |
