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

doi:10.1016/j.gene.2003.11.003

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 journal › Article › peer-review

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 (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 language	English
Pages (from-to)	215-219
Number of pages	5
Journal	Gene
Volume	327
Issue number	2
DOIs	https://doi.org/10.1016/j.gene.2003.11.003
Publication status	Published - Mar 3 2004

Keywords

Heritability
Insertion/deletion
Insulin resistance
mtDNA
SNP
Transposable element

ASJC Scopus subject areas

Genetics

Access to Document

10.1016/j.gene.2003.11.003

Cite this

Giampieri, C., Centurelli, M., Bonafè, 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., & Franceschi, C. (2004). A novel mitochondrial DNA-like sequence insertion polymorphism in Intron I of the FOXO1A gene. Gene, 327(2), 215-219. https://doi.org/10.1016/j.gene.2003.11.003

Giampieri, C, Centurelli, M, Bonafè, 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, ES & Franceschi, C 2004, 'A novel mitochondrial DNA-like sequence insertion polymorphism in Intron I of the FOXO1A gene', Gene, vol. 327, no. 2, pp. 215-219. https://doi.org/10.1016/j.gene.2003.11.003

@article{64a0e326db544515bd77df837bce408a,

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

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 (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.",

keywords = "Heritability, Insertion/deletion, Insulin resistance, mtDNA, SNP, Transposable element",

author = "Claudia Giampieri and Matteo Centurelli and Massimiliano Bonaf{\`e} and Fabiola Olivieri and Maurizio Cardelli and Francesca Marchegiani and Luca Cavallone and Simona Giovagnetti and Elena Mugianesi and Giuseppina Carrieri and Rosamaria Lisa and Stefano Cenerelli and Roberto Testa and Massimo Boemi and Chariklia Petropoulou and Gonos, {Efstathios S.} and Claudio Franceschi",

year = "2004",

month = mar,

day = "3",

doi = "10.1016/j.gene.2003.11.003",

language = "English",

volume = "327",

pages = "215--219",

journal = "Gene",

issn = "0378-1119",

publisher = "Elsevier B.V.",

number = "2",

}

TY - JOUR

T1 - A novel mitochondrial DNA-like sequence insertion polymorphism in Intron I of the FOXO1A gene

AU - Giampieri, Claudia

AU - Centurelli, Matteo

AU - Bonafè, Massimiliano

AU - Olivieri, Fabiola

AU - Cardelli, Maurizio

AU - Marchegiani, Francesca

AU - Cavallone, Luca

AU - Giovagnetti, Simona

AU - Mugianesi, Elena

AU - Carrieri, Giuseppina

AU - Lisa, Rosamaria

AU - Cenerelli, Stefano

AU - Testa, Roberto

AU - Boemi, Massimo

AU - Petropoulou, Chariklia

AU - Gonos, Efstathios S.

AU - Franceschi, Claudio

PY - 2004/3/3

Y1 - 2004/3/3

N2 - 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.

AB - 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.

KW - Heritability

KW - Insertion/deletion

KW - Insulin resistance

KW - mtDNA

KW - SNP

KW - Transposable element

UR - http://www.scopus.com/inward/record.url?scp=10744224883&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=10744224883&partnerID=8YFLogxK

U2 - 10.1016/j.gene.2003.11.003

DO - 10.1016/j.gene.2003.11.003

M3 - Article

C2 - 14980718

AN - SCOPUS:10744224883

SN - 0378-1119

VL - 327

SP - 215

EP - 219

JO - Gene

JF - Gene

IS - 2

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this