title: A set of duplicons on human chromosome 9 is involved in the origin of a supernumerary marker chromosome.
abstract: Human chromosome 9 is involved in a number of recurrent structural rearrangements; moreover, its pericentromeric region exhibits a remarkable evolutionary plasticity. In this study we present the molecular characterization of a constitutional rearrangement, involving the 9p21.1q13 region, which led to the formation of a supernumerary marker chromosome (SMC). We defined the sequence of the breakpoints and identified a new set of duplicons on human chromosome 9, named LCR9s (chromosome 9 low-copy repeats). Two of these duplicons were shown to be involved in a somatic exchange leading to the formation of the SMC. High-resolution FISH coupled to database search demonstrated that a total number of 35 LCR9 paralogs are present in the human genome. These newly described chromosome 9 duplicons have features that may be crucial in driving structural chromosome rearrangements in germinal and somatic cells.
authors.affiliation: Dipartimento di Genetica e Microbiologia A. Buzzati Traverso, Università di Pavia, Via Ferrata 1, 27100 Pavia, Italy.
authors.forename: Marianna
authors.initials: M
authors.lastname: Paulis
authors.forename: Mirella
authors.initials: M
authors.lastname: Bensi
authors.forename: Daniela
authors.initials: D
authors.lastname: Moralli
authors.forename: Luigi
authors.initials: L
authors.lastname: De Carli
authors.forename: Elena
authors.initials: E
authors.lastname: Raimondi
mesh_terms: D001483:Base Sequence; D043171:Chromosomal Instability; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D004247:DNA / Q000235:genetics; D019143:Evolution, Molecular; D015321:Gene Rearrangement; D020131:Genes, Duplicate; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D012091:Repetitive Sequences, Nucleic Acid
chemical_list: D005819:Genetic Markers; D004247:DNA