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.
Giampieri
Claudia
C
Department of Research and Diabetology Unit, Italian National Research Centers on Ageing, Via Birarelli 8, Ancona 60124, Italy.
Centurelli
Matteo
M
Bonafè
Massimiliano
M
Olivieri
Fabiola
F
Cardelli
Maurizio
M
Marchegiani
Francesca
F
Cavallone
Luca
L
Giovagnetti
Simona
S
Mugianesi
Elena
E
Carrieri
Giuseppina
G
Lisa
Rosamaria
R
Cenerelli
Stefano
S
Testa
Roberto
R
Boemi
Massimo
M
Petropoulou
Chariklia
C
Gonos
Efstathios S
ES
Franceschi
Claudio
C
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