A set of duplicons on human chromosome 9 is involved in the origin of a supernumerary marker chromosome.
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.
Paulis
Marianna
M
Dipartimento di Genetica e Microbiologia A. Buzzati Traverso, Università di Pavia, Via Ferrata 1, 27100 Pavia, Italy.
Bensi
Mirella
M
Moralli
Daniela
D
De Carli
Luigi
L
Raimondi
Elena
E
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
D005819:Genetic Markers; D004247:DNA