TY - CHAP
T1 - Involvement of genetic recombination in microsatellite instability
AU - Dere, Ruhee
AU - Hebert, Micheal L.
AU - Napierala, Marek
N1 - Funding Information:
We thank all members of this laboratory for their comments and helpful discussions. We are especially grateful to Drs. Albino Bacolla, Anna Pluciennik, John Jakupciak, Ravi Iyer, Pawel Parniewski, and Alexandre Vetcher and Mrs. Jacquelynn Larson for their contribution to this work. This work was supported by grants from the National Institutes of Health (NS37554 and ESl1347), the Robert A. Welch Foundation, the Muscular Dystrophy Foundation, and the Seek-a-Miracle Foundation to Robert D. Wells.
PY - 2006
Y1 - 2006
N2 - This chapter discusses the involvement of genetic recombination in the instability of trinucleotide and tetranucleotide repeats. Genetic recombination was first demonstrated to be an important source of instability of minisatellites, a family of moderately sized (usually 6-100 bp), hypervariable repetitive elements. The expansion of microsatellite sequences at a particular locus in the human genome is a complex process, often initiated by establishing the group of "at-risk" alleles harboring the longest, uninterrupted repeat tracts (founder effect). These alleles have a high potential for large expansions in subsequent generations, leading to the phenotype changes. Somatic instability is the last, often disease-specific, step in the expansion process and occurs to various extents in different tissues. Genetic recombination may be involved in several events of microsatellite instability, such as hairpins, slipped structures, triplexes, sticky DNA structure, tetraplexes, and unwound DNA conformations that can interfere with various processes of DNA metabolism. The instability of the CTG·CAG repeats in the Machado-Joseph disease gene (MJDl) reveals that intermediate alleles arise through an interallelic gene conversion.
AB - This chapter discusses the involvement of genetic recombination in the instability of trinucleotide and tetranucleotide repeats. Genetic recombination was first demonstrated to be an important source of instability of minisatellites, a family of moderately sized (usually 6-100 bp), hypervariable repetitive elements. The expansion of microsatellite sequences at a particular locus in the human genome is a complex process, often initiated by establishing the group of "at-risk" alleles harboring the longest, uninterrupted repeat tracts (founder effect). These alleles have a high potential for large expansions in subsequent generations, leading to the phenotype changes. Somatic instability is the last, often disease-specific, step in the expansion process and occurs to various extents in different tissues. Genetic recombination may be involved in several events of microsatellite instability, such as hairpins, slipped structures, triplexes, sticky DNA structure, tetraplexes, and unwound DNA conformations that can interfere with various processes of DNA metabolism. The instability of the CTG·CAG repeats in the Machado-Joseph disease gene (MJDl) reveals that intermediate alleles arise through an interallelic gene conversion.
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U2 - 10.1016/B978-012369462-1/50039-9
DO - 10.1016/B978-012369462-1/50039-9
M3 - Chapter
AN - SCOPUS:84882525462
SN - 9780123694621
SP - 597
EP - 615
BT - Genetic Instabilities and Neurological Diseases, Second Edition
PB - Elsevier Inc.
ER -