title: Human genome dispersal and evolution of 4q35 duplications and interspersed LSau repeats.
abstract: We have investigated the evolutionary history of the 4q35 paralogous region, and of a sub-family of interspersed LSau repeats. In HSA, 4q35 duplications were localized at 1q12, 3p12.3, 4q35, 10q26, 20cen, whereas duplicons and interspersed LSau repeats simultaneously labeled the p arm of acrocentric chromosomes. A multi-site localization of 4q35-like sequences was also observed in PTR, GGO, PPY, HLA (Hominoidea) and PAN (Old World monkey), thus indicating that duplications of this region have occurred extensively in the two clades, which diverged at least 25 million years ago. In HSA, PTR and PAN, 4q35-derived duplicons co-localized with rDNA, whereas in GGO and PPY this association was partially lacking. In PAN, the single- and multi-site distribution of rDNA and paralogous sequences, respectively, indicates a different timing of sequence dispersal. The sub-family of interspersed LSau repeats showed a lesser dispersal than 4q35 duplications both in man and great apes. This finding suggests that duplications and repeated sequences have undergone different expansion/contraction events during evolution. The mechanisms underlying the dispersal of paralogous regions may be further derived through studies comparing the detailed structural organization of these genomic regions in man and primates.
authors.affiliation: Dipartimento di Biologia e Genetica per le Scienze Mediche, Università di Milano, Via Viotti 3/5, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Ballarati
authors.forename: I
authors.initials: I
authors.lastname: Piccini
authors.forename: L
authors.initials: L
authors.lastname: Carbone
authors.forename: N
authors.initials: N
authors.lastname: Archidiacono
authors.forename: A
authors.initials: A
authors.lastname: Rollier
authors.forename: A
authors.initials: A
authors.lastname: Marozzi
authors.forename: R
authors.initials: R
authors.lastname: Meneveri
authors.forename: E
authors.initials: E
authors.lastname: Ginelli
mesh_terms: D000818:Animals; D001483:Base Sequence; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D019143:Evolution, Molecular; D020440:Gene Duplication; D015894:Genome, Human; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D020071:Interspersed Repetitive Sequences / Q000235:genetics*; D008969:Molecular Sequence Data; D017422:Sequence Analysis, DNA
chemical_list: D004247:DNA