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.
journal_name
Genomicsjournal_title
Genomicsauthors
Robledo R,Orru S,Sidoti A,Muresu R,Esposito D,Grimaldi MC,Carcassi C,Rinaldi A,Bernini L,Contu L,Romani M,Roe B,Siniscalco Mdoi
10.1006/geno.2002.7014subject
Has Abstractpub_date
2002-12-01 00:00:00pages
585-92issue
6eissn
0888-7543issn
1089-8646pii
S088875430297014Xjournal_volume
80pub_type
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