A 9.1-kb gap in the genome reference map is shown to be a stable deletion/insertion polymorphism of ancestral origin

Renato Robledo, Sandro Orru, Antonella Sidoti, Rosella Muresu, Diane Esposito, Marie Claude Grimaldi, Carlo Carcassi, Antoniettina Rinaldi, Luigi Bernini, Licinio Contu, Massimo Romani, Bruce Roe, Marcello Siniscalco

Research output: Contribution to journalArticle

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 IgλV genes at about 450 kb from the cluster of the IgλJ-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.

Original languageEnglish
Pages (from-to)585-592
Number of pages8
JournalGenomics
Volume80
Issue number6
DOIs
Publication statusPublished - 2002

Keywords

  • Deletion/insertion polymorphism
  • Genome diversity
  • Genomic gaps
  • Human chromosome 22
  • Igλ genes
  • RDA-detected microdeletions

ASJC Scopus subject areas

  • Genetics

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    Robledo, R., Orru, S., Sidoti, A., Muresu, R., Esposito, D., Grimaldi, M. C., Carcassi, C., Rinaldi, A., Bernini, L., Contu, L., Romani, M., Roe, B., & Siniscalco, M. (2002). A 9.1-kb gap in the genome reference map is shown to be a stable deletion/insertion polymorphism of ancestral origin. Genomics, 80(6), 585-592. https://doi.org/10.1006/geno.2002.7014