A novel mitochondrial DNA-like sequence insertion polymorphism in Intron I of the FOXO1A gene.
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.
Department of Research and Diabetology Unit, Italian National Research Centers on Ageing, Via Birarelli 8, Ancona 60124, Italy.
Claudia
C
Giampieri
Matteo
M
Centurelli
Massimiliano
M
Bonafè
Fabiola
F
Olivieri
Maurizio
M
Cardelli
Francesca
F
Marchegiani
Luca
L
Cavallone
Simona
S
Giovagnetti
Elena
E
Mugianesi
Giuseppina
G
Carrieri
Rosamaria
R
Lisa
Stefano
S
Cenerelli
Roberto
R
Testa
Massimo
M
Boemi
Chariklia
C
Petropoulou
Efstathios S
ES
Gonos
Claudio
C
Franceschi
D000251:Adenosine Triphosphatases / Q000235:genetics; D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D000071161:Forkhead Box Protein O1; D051858:Forkhead Transcription Factors; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007333:Insulin Resistance / Q000235:genetics; D007438:Introns / Q000235:genetics*; D007558:Italy; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D016254:Mutagenesis, Insertional; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D017384:Sequence Deletion; D014157:Transcription Factors / Q000235:genetics*
D004272:DNA, Mitochondrial; D004268:DNA-Binding Proteins; C085126:FOXO1 protein, human; D000071161:Forkhead Box Protein O1; D051858:Forkhead Transcription Factors; D014157:Transcription Factors; D004247:DNA; D000251:Adenosine Triphosphatases