Download Human Nucleotide Expansion Disorders (Nucleic Acids and by Michael Fry, Karen Usdin PDF

By Michael Fry, Karen Usdin

Human neurological and neuromuscular problems brought on by nucleotide growth are the point of interest of becoming curiosity of training physicians and of biomedical researchers. This quantity represents a accomplished and updated description of a few of the better-studied problems. The authors speak about molecular, scientific and pathological facets of the ailments in addition to our present figuring out in their underlying mechanisms.

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Extra resources for Human Nucleotide Expansion Disorders (Nucleic Acids and Molecular Biology)

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1999; Seznec et al. 2000; Fortune et al. 2000). Repeat heterogeneity in E. coli, especially in mismatch repair deficient strains, is consistent with slipped misalignment during replication of repeats in bacteria (Schumacher et al. 1998; Schmidt et al. 2000; Parniewski et al. 2000). Thus, slipped misalignment may be the simplest mechanism for repeat instability and it could be operable for all repeats. 2 Strand Switching During Synthesis of d(ATTCT) · d(AGAAT) DNA Repeats Can Result in Complex Expansion Mutations Primer-template misalignment can occur forward or backward along the same template strand, resulting in duplications and deletions, respectively; Mechanisms of DNA Repeat Expansion 21 however, misalignment within a palindromic or quasi-palindromic sequence can also occur on a different template strand.

This complex molecular event provides a good example of the degree to which the properties of a simple DNA repeat sequence can direct complex genetic alterations Mechanisms of DNA Repeat Expansion 23 a hairpin on continued DNA synthesis. Replication that follows the strand switch within a quasi-palindrome results in the formation of a perfect inverted repeat (Ripley 1982; Sinden et al. 1999; van Noort et al. 2003). Results for one quasi-palindrome correction mutation in E. coli indicated that an intermolecular strand switch specific for the leading strand occurred (Rosche et al.

Moreover, given the interdependence of replication, Mechanisms of DNA Repeat Expansion 39 repair, and recombination, under the global regulation and coordination of checkpoint control, many players and pathways will be expected to have an influence on repeat instability. Maybe in the last 15 years we have learned enough to know where to begin to address in new ways this complex biological phenomenon. An additional goal is to learn how to manipulate repeat length in a therapeutic fashion to delay or prevent disease-causing expansion, or to reverse the expansion process, preventing or alleviating the genetic source of the problem.

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