The CAG repeat polymorphism of mitochondrial polymerase gamma (POLG) is associated with male infertility in Tunisia

Andrologia

Volumn 44, Issue SUPPL.1, 2012, Pages 68-73

  Baklouti Gargouri, S ^a   Ghorbel, M ^a   Chakroun, N ^a   Sellami, A ^a   Fakhfakh, F ^a   Ammar Keskes, L ^a  

^a UNIVERSITY OF SFAX   (Tunisia)

Author keywords

Gene polymorphism; Male infertility; Mitochondrial DNA; POLG gene

Indexed keywords

DNA DIRECTED DNA POLYMERASE GAMMA; MITOCHONDRIAL DNA;

ARTICLE; AZOOSPERMIA; CAG REPEAT; CONTROLLED STUDY; DNA POLYMORPHISM; DNA SEQUENCE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MALE INFERTILITY; OLIGOSPERMIA; POLYMERASE CHAIN REACTION; TUNISIA;

ADULT; BASE SEQUENCE; CASE-CONTROL STUDIES; DNA PRIMERS; DNA-DIRECTED DNA POLYMERASE; HUMANS; INFERTILITY, MALE; MALE; MITOCHONDRIA; POLYMORPHISM, GENETIC; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TRINUCLEOTIDE REPEATS; TUNISIA;

EID: 84861490270     PISSN: 03034569     EISSN: 14390272     Source Type: Journal    
DOI: 10.1111/j.1439-0272.2010.01139.x     Document Type: Article

References (16)

1. Aknin-Seifer IE, Touraine RL, Lejeune H, Jimenez C, Chouteau J, Siffroi JP, McElreavey K, Bienvenu T, Patrat C, Levy R (2005) Is the CAG repeat of mitochondrial DNA polymerase gamma (POLG) associated with male infertility? A multi-centre French studyHum Reprod20:736-740.
2. Blomberg Jensen M, Leffer H, Petersen JH, Daugaard G, Skakkebaek NE, Rajpert-De Meyts E (2008) Association of the polymorphism of the CAG repeat in the mitochondrial DNA polymerase gamma gene (POLG) with testicular germ-cell cancer. Ann Oncol19:1910-1914.
3. Bolden A, Noy GP, Weissbach A (1977) DNA polymerase of mitochondria is a gamma-polymerase. J Biol Chem252:3351-3356.
4. Brusco A, Michielotto C, Gatta V, Foresta C, Matullo G, Zeviani M, Ferrari G, Dragone E, Calabrese G, Rossato M, Stuppia L, Migone N (2006) The polymorphic polyglutamine repeat in the mitochondrial DNA polymerase gamma gene is not associated with oligozoospermia. J Endocrinol Invest29:1-4.
5. Dowsing AT, Yong EL, Clark M, McLachlan RI, de Kretser DM, Trounson AO (1999) Linkage between male infertility and trinucleotide repeat expansion in the androgen-receptor gene. Lancet354:640-643.
6. Jensen M, Leffers H, Petersen J (2004) Frequent polymorphism of the mitochondrial DNA polymerase gamma gene (POLG) in patients with normal spermiograms and unexplained subfertility. Hum Reprod19:65-70.
7. Krausz C, Guarducci E, Becherini L, Degl'Innocenti S, Gerace L, Balercia G, Forti G (2004) The clinical significance of the POLG gene polymorphism in male infertility. J Clin Endocrinol Metab89:4292-4297.
8. McLachlan RI, Mallidis C, Ma K, Bhasin S, de Kretser DM (1998) Genetic disorders and spermatogenesis. Reprod Fertil Dev10:97-104.
9. Rani DS, Carlus SJ, Poongothai J, Jyothi A, Pavani K, Gupta NJ, Reddy AG, Rajan MM, Rao K, Chakravarty B, Singh L, Thangaraj K (2008) CAG repeat variation in the mtDNA polymerase gamma is not associated with oligoasthenozoospermia. Int J Androl32:647-655.
10. Ropp PA, Copeland WC (1996) Cloning and characterization of the human mitochondrial DNA polymerase DNA, polymerase gamma. Genomics36:449-458.
11. Rovio A, Tiranti V, Bednarz AL, Suomalainen A, Spelbrink JN, Lecrenier N, Melberg A, Zeviani M, Poulton J, Foury F (1999) Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals. Eur J Hum Genet7:140-146.
12. Rovio AT, Marchington DR, Donat S, Schuppe HC, Abel J, Fritsche E, Elliott DJ, Laippala P, Ahola AL, McNay D, Harrison RF, Hughes B, Barrett T, Bailey DM, Mehmet D, Jequier AM, Hargreave TB, Kao SH, Cummins JM, Barton DE, Cooke HJ, Wei YH, Wichmann L, Poulton J, Jacobs HT (2001) Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility. Nat Genet29:261-262.
13. Tüttelmann F, Rajpert-De Meyts E, Nieschlag E, Simoni M (2007) Gene polymorphisms and male infertility. Reprod Biomed15:643-658.
14. Walker RL, Anziano P, Meltzer PS (1997) A PAC containing the human mitochondrial DNA polymerase gamma gene (POLG) maps to chromosome 15q25. Genomics40: 376-378.
15. World Health Organization (1992) WHO Laboratory Manual for the Examination of Human Semen and Sperm-Cervical Mucus Interaction, 3rd ed. Cambridge University Press, Cambridge, UK.
16. Yao N, Zheng JF, Peng YF, Li ZX, Peng ZQ, Jin XH, Ma X (2006) CAG repeats of DNA polymerase gamma in Chinese males and relationship of idiopathic male infertility to CAG repeats. Zhonghua Nan Ke Xue12:681-684.