A 9.1-kb gap in the genome reference map is shown to be a stable deletion/insertion polymorphism of ancestral origin.
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.
Robledo
Renato
R
Laboratory of Biology and Genetics, University of Messina, Messina, 98100, Italy.
Orru
Sandro
S
Sidoti
Antonella
A
Muresu
Rosella
R
Esposito
Diane
D
Grimaldi
Marie Claude
MC
Carcassi
Carlo
C
Rinaldi
Antoniettina
A
Bernini
Luigi
L
Contu
Licinio
L
Romani
Massimo
M
Roe
Bruce
B
Siniscalco
Marcello
M
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
D004247:DNA