Temporal and spatial expression patterns of two G-protein coupled receptors in Drosophila melanogaster |
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Authors: | F Hannan LM Hall |
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Affiliation: | Dipartimento di Biochimica e Biotecnologie Mediche, Università Federico II di Napoli, Italia. |
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Abstract: | Mutations of the iduronate-2-sulfatase gene have been identified as responsible of Hunter syndrome or mucopolysaccharidosis type II. About 20% of the patients have deletions of the whole gene or other major structural alterations. The mutations found so far include: 34 missense, 8 nonsense, 11 small deletions from 1 to 3 bp, 2 deletions of 8 pb, 2 insertions of 1 bp and 2 insertions of 14 bp, with most leading to a frameshift and premature chain termination. Also 8 different splice-site mutations leading to insertions or deletions in the mRNA have been tabulated. Knowledge of the primary genetic defect allows insight into genotype-phenotype correlation and allows a better understanding of the structure and function of iduronate-2-sulfatase. |
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