title: A 9.1-kb gap in the genome reference map is shown to be a stable deletion/insertion polymorphism of ancestral origin.
abstract: We show a mute 9.1-kb gap in the human genome reference map, unraveled by RDA studies, to be a worldwide deletion/insertion polymorphism of stable type. The molecular and population data presented suggest its origin from a unique ancestral transposition event in chromosomal region 22q11.2, overlapping the IglambdaV genes at about 450 kb from the cluster of the IglambdaJ-C genes. These findings are not meant to be just another report of a polymorphic marker suitable for population studies. Rather, we wish to stress that a large number of inborn mute gaps may be spread all over the genome and that the many RDA-detected microdeletions already available are efficient tools for the discovery of this otherwise hidden category of genetic variation. Apart from their possible impact on expression of structural genes, mute gaps must be filled for the reference map of our genome to be truly completed.
authors.affiliation: Laboratory of Biology and Genetics, University of Messina, Messina, 98100, Italy.
authors.forename: Renato
authors.initials: R
authors.lastname: Robledo
authors.forename: Sandro
authors.initials: S
authors.lastname: Orru
authors.forename: Antonella
authors.initials: A
authors.lastname: Sidoti
authors.forename: Rosella
authors.initials: R
authors.lastname: Muresu
authors.forename: Diane
authors.initials: D
authors.lastname: Esposito
authors.forename: Marie Claude
authors.initials: MC
authors.lastname: Grimaldi
authors.forename: Carlo
authors.initials: C
authors.lastname: Carcassi
authors.forename: Antoniettina
authors.initials: A
authors.lastname: Rinaldi
authors.forename: Luigi
authors.initials: L
authors.lastname: Bernini
authors.forename: Licinio
authors.initials: L
authors.lastname: Contu
authors.forename: Massimo
authors.initials: M
authors.lastname: Romani
authors.forename: Bruce
authors.initials: B
authors.lastname: Roe
authors.forename: Marcello
authors.initials: M
authors.lastname: Siniscalco
mesh_terms: D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D019143:Evolution, Molecular; D005828:Genetics, Population; D015894:Genome, Human; D006239:Haplotypes; D006801:Humans; D016254:Mutagenesis, Insertional; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA
chemical_list: D004247:DNA