Figure 4.2. Organization of the human iduronate 2-sulfatase gene.

Figure 4.2Organization of the human iduronate 2-sulfatase gene

This gene is located in positions 152960–177995 of human X chromosome and encodes a 550-aa precursor protein that contains a 25-aa N-terminal signal sequence, followed by eight amino acids that are removed in the course of protein maturation. Mutations in this gene cause mucopolysaccharidosis type II, also known as Hunter's disease, which results in tissue deposits of chondroitin sulfate and heparin sulfate. The symptoms of Hunter's disease include dysostosis with dwarfism, coarse facial features, hepatosplenomegaly, cardiovascular disorders, deafness, and, in some cases, progressive mental retardation (see OMIM 309900). The top line indicates the X chromosome and shows the location of the iduronate sulfatase gene (thick line in the middle). Thin lines on the bottom indicate two alternative transcripts. Exons are shown with small rectangles. The square bracket above the iduronate sulfatase gene marks the region of the gene shown in Figure 4.3.

From: Chapter 4, Principles and Methods of Sequence Analysis

Cover of Sequence - Evolution - Function
Sequence - Evolution - Function: Computational Approaches in Comparative Genomics.
Koonin EV, Galperin MY.
Boston: Kluwer Academic; 2003.
Copyright © 2003, Kluwer Academic.

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