1. A novel mitochondrial DNA-like sequence insertion polymorphism in Intron I of the FOXO1A gene
- Author
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Chariklia Petropoulou, Luca Cavallone, Claudia Giampieri, Giuseppina Carrieri, Simona Giovagnetti, Claudio Franceschi, Efstathios S. Gonos, Rosamaria Lisa, Matteo Centurelli, Elena Mugianesi, Massimiliano Bonafè, Stefano Cenerelli, Francesca Marchegiani, Maurizio Cardelli, Roberto Testa, Fabiola Olivieri, Massimo Boemi, GIAMPIERI C., CENTURELLI M., BONAFE M., OLIVIERI F., CARDELLI M., MARCHEGIANI F., CAVALLONE L., GIOVAGNETTI S., MUGIANESI E., CARRIERI G., LISA R., CENERELLI S., TESTA R., BOEMI M., PETROPOULOU C., GONOS E.S., and FRANCESCHI C.
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Adult ,Male ,Transposable element ,Mitochondrial DNA ,Adolescent ,Genotype ,DNA Mutational Analysis ,Population ,Biology ,DNA, Mitochondrial ,Polymorphism, Single Nucleotide ,Linkage Disequilibrium ,chemistry.chemical_compound ,Gene Frequency ,Genetics ,Humans ,Gene family ,education ,Gene ,Alleles ,Aged ,Sequence Deletion ,Adenosine Triphosphatases ,Aged, 80 and over ,education.field_of_study ,Forkhead Box Protein O1 ,Intron ,Forkhead Transcription Factors ,DNA ,General Medicine ,Middle Aged ,Molecular biology ,Introns ,Pedigree ,DNA-Binding Proteins ,Mutagenesis, Insertional ,genomic DNA ,Haplotypes ,Italy ,chemistry ,Female ,Insulin Resistance ,Transcription Factors - Abstract
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 (mitochondrial 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.
- Published
- 2004
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