A novel mitochondrial DNA-like sequence insertion polymorphism in Intron I of the FOXO1A gene

Claudia Giampieri, Matteo Centurelli, Massimiliano Bonafè, Fabiola Olivieri, Maurizio Cardelli, Francesca Marchegiani, Luca Cavallone, Simona Giovagnetti, Elena Mugianesi, Giuseppina Carrieri, Rosamaria Lisa, Stefano Cenerelli, Roberto Testa, Massimo Boemi, Chariklia Petropoulou, Efstathios S. Gonos, Claudio Franceschi

Research output: Contribution to journalArticlepeer-review


The human forkhead box O1A (FOXO1A) gene belongs to the human forkhead gene family and acts downstream of the human insulin signalling pathway. In this study, polymorphisms of the Intron I of FOXO1A gene were studied in Italian healthy people and insulin resistant subjects. No significant association between the germ-line variability in the Intron I of FOXO1A and insulin resistance was observed. Interestingly, during the study, a new 39-bp sequence insertion polymorphism in Intron I of FOXO1A gene was described. The polymorphism was found to co-segregate in a co-dominant Mendelian fashion and to be present in an ethnically distinct population (Greeks). A BLAST search showed that the sequence shares 100% identity with a mtDNA (mithocondrial DNA) sequence coding for the ATP synthase 8 (ATPase8) and ATP synthase 6 (ATPase6) genes. Hence, FOXO1A Intron I is a polymorphic nuclear region involved in the exchange of DNA material between mitochondrial and genomic DNA, which is a well-established mechanism of evolutionary change in eukaryotes.

Original languageEnglish
Pages (from-to)215-219
Number of pages5
Issue number2
Publication statusPublished - Mar 3 2004


  • Heritability
  • Insertion/deletion
  • Insulin resistance
  • mtDNA
  • SNP
  • Transposable element

ASJC Scopus subject areas

  • Genetics


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