title: Origin and diversification of minisatellites derived from human Alu sequences.
abstract: We analyze minisatellites derived from Alu fragments corresponding approximately to the first 44 bases of human Alu consensus sequences from different subfamilies. The origin of Alu-derived minisatellites appears to have been mediated by short flanking repeats, as first proposed by Haber and Louis [Haber, J.E., Louis, E.J., 1998. Minisatellite origins in yeast and humans. Genomics 48, 132-135.]. We also present evidence for base substitutions and deletions introduced to minisatellites by gene conversion with partially similar but unrelated flanking regions. Segments flanked by short direct repeats are relatively common in different regions of Alu and other repetitive sequences. Our analysis shows that they can be effectively used in comparative studies of the overall sequence context which may contribute to instability of DNA segments flanked by short direct repeats.
authors.affiliation: Genetic Information Research Institute, 1925 Landings Drive, Mountain View, CA 94043, USA. jurka@girinst.org
authors.forename: Jerzy
authors.initials: J
authors.lastname: Jurka
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Gentles
mesh_terms: D020087:Alu Elements / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D002890:Chromosomes, Human, Pair 20; D002892:Chromosomes, Human, Pair 22; D016384:Consensus Sequence; D019143:Evolution, Molecular; D005785:Gene Conversion; D014644:Genetic Variation; D015894:Genome, Human; D023281:Genomics; D006801:Humans; D018598:Minisatellite Repeats / Q000235:genetics*; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D017384:Sequence Deletion; D017386:Sequence Homology, Amino Acid; D012689:Sequence Homology, Nucleic Acid