[Frontiers in Bioscience 3, d408-418, March 27, 1998]
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CAVEAT LECTOR




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DNA INVERTED REPEATS AND HUMAN DISEASE

John J. Bissler

The Children's Hospital Research Foundation, Cincinnati, Ohio

TABLE OF CONTENTS


1. Abstract
2. Introduction
3. Inverted Repeats
4.. Cruciform Formation
5. In Vivo Formation of Cruciforms
5.1. Chemical Modification of the Hairpin Loop
5.2. Protein Recognition of the Extruded Hairpin
5.2.1. Antibody Studies
5.2.2. Endonuclease
5.3. Chemical Cross-linking

6. Biological Roles of Inverted Repeats
6.1. RNA Effects
6.2. DNA Effects

7. Role of Inverted Repeats in Mutagenesis
7.1. Palindrome Mediated Mutagenesis
7.2. Quasipalindrome Mediated Mutagenesis
7.3. Diseases Associated with Imperfect Inverted Repeats
7.3.1. Hereditary Angioneurotic Edema
7.3.2. Triplet Repeat Mediated Diseases
7.3.3. Duchenne Muscular Dystrophy
7.3.4. Osteogenesis Imperfecta
7.3.5. Antithrombin Deficiency
7.3.6. Silent Serum Cholinesterase
7.3.7. Lesch-Nyhan Syndrome
7.3.8. Kearn-Sayre Syndrome
7.3.9. Biotinase Deficiency
7.3.10. Familial Hypercholesterolemia
8. Perspectives
9. Acknowledgments
10. References
11. Entire manuscript

Key words: Molecular Biology, DNA Structure, Inverted Repeat, Cruciform, Quasipalindrome, Mutagenesis, Hairpin

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