The polymorphic polyglutamine repeat in the mitochondrial DNA polymerase γ gene is not associated with oligozoospermia

Journal of Endocrinological Investigation

Volumn 29, Issue 1, 2006, Pages 1-4

  Brusco, A ^a,b   Michielotto, C ^a,b   Gatta, V ^c   Foresta, C ^d   Matullo, G ^a,e   Zeviani, M ^f   Ferrari, G ^f   Dragone, E ^b   Calabrese, G ^c   Rossato, M ^d   Stuppia, L ^c   Migone, N ^a,b  

^a UNIVERSITY OF TURIN   (Italy)

^b MOLINETTE HOSPITAL   (Italy)

^c UNIVERSITY OF CHIETI   (Italy)

^d UNIVERSITY OF PADOVA   (Italy)

^e ISI FOUNDATION   (Italy)

^f DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

DNA polymerase; POLG1; Primary infertility; Trinucleotide repeats

Indexed keywords

ADENINE; CYTOSINE; DNA DIRECTED DNA POLYMERASE GAMMA; GENOMIC DNA; GUANINE; MITOCHONDRIAL DNA; POLYGLUTAMINE; PROTEIN POLG1; UNCLASSIFIED DRUG;

ADULT; ALLELE; ARTICLE; BLOOD SAMPLING; CONFIDENCE INTERVAL; CONTROLLED STUDY; DNA CONTENT; DNA EXTRACTION; EXON; GENE FREQUENCY; GENETIC CODE; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; ITALY; MAJOR CLINICAL STUDY; MALE; MALE INFERTILITY; OLIGOSPERMIA; STATISTICAL ANALYSIS; STATISTICAL SIGNIFICANCE;

EID: 33644827312     PISSN: 03914097     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03349169     Document Type: Article

References (16)

1. Folgero T, Bertheussen K, Lindal S, Torbergsen T, Oian P. Mitochondrial disease and reduced sperm motility. Hum Reprod 1993, 8: 1863-8.
2. Lestienne P, Reynier P, Chretien MF, Penisson-Besnier I, Malthiery Y, Rohmer V. Oligoasthenospermia associated with multiple mitochondrial DNA rearrangements. Mol Hum Reprod 1997,3:811-4.
3. Ruiz-Pesini E, Lapena AC, Diez-Sanchez C, et al. Human mtDNA haplogroups associated with high or reduced spermatozoa motility. Am J Hum Genet 2000, 67: 682-96.
4. Spiropoulos J, Turnbull DM, Chinnery PF. Can mitochondrial DNA mutations cause sperm dysfunction? Mol Hum Reprod 2002, 8: 719-21.
5. Holyoake AJ, McHugh P, Wu M, et al. High incidence of single nucleotide substitutions in the mitochondrial genome is associated with poor semen parameters in men. Int J Androl 2001, 24: 175-82.
6. St John JC, Jokhi RP, Barratt CL. Men with oligoasthe-noteratozoospermia harbour higher numbers of multiple mitochondrial DNA deletions in their spermatozoa, but individual deletions are not indicative of overall aetiology. Mol Hum Reprod 2001, 7:103-11.
7. Ropp PA, Copeland WC. Cloning and characterization of the human mitochondrial DNA polymerase, DNA polymerase gamma. Genomics 1996, 36: 449-58.
8. Rovio AT, Marchington DR, Donat S, et al. Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility. Nat Genet 2001, 29: 261-2.
9. Jensen M, Leffers H, Petersen JH, et al. Frequent polymorphism of the mitochondrial DNA polymerase gamma gene (POLG) in patients with normal spermiograms and unexplained subfertility. Hum Reprod 2004,19: 65-70.
10. Rovio A, Tiranti V, Bednarz AL, et al. Analysis of the trinucleoticle CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals. Eur J Hum Genet 1999,7:140-6.
11. Krausz C, Guarducci E, Becherini L, et al. The clinical significance of the POLG gene polymorphism in male infertility. J Clin Enclocrinol Metab. 2004,89:4292-7.
12. Aknin Seifer IE, Touraine RL, Lejeune H, et al. Is the CAG repeat of mitochondrial DNA polymerase gamma (POLG) associated with male infertility? A multi-centre French study. Hum Reprod 2005, 20: 736-40.
13. Stuppia L, Gatta V, Scarciolla O, et al. The methylenetethrahydrofolate reductase (MTHFR) C677T polymorphism and male infertility in Italy. J Endocrinol Invest 2003, 26: 620-2.
14. Van Goethem G, Dermaut B, Lofgren A, Martin JJ, Van Broeckhoven C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 2001, 28: 211-2.
15. Spelbrink JN, Toivonen JM, Hakkaart GA, et al. In vivo functional analysis of the human mitochondrial DNA polymerase POLG expressed in cultured human cells. J Biol Chem 2000, 275:24818-28.
16. Lecrenier N, Van Der Bruggen P, Foury F. Mitochondriial DNA polymerases from yeastto man: a newfamily of polymerases. Gene 1997, 185: 147-52.