A novel missense mutation C11994T in the mitochondrial ND4 gene as a cause of low sperm motility in the Indian subcontinent

Fertility and Sterility

Volumn 86, Issue 6, 2006, Pages 1783-1785

  Selvi Rani, Deepa ^a   Vanniarajan, Ayyasamy ^a   Gupta, Nalini J ^b   Chakravarty, Baidyanath ^b   Singh, Lalji ^a   Thangaraj, Kumarasamy ^a  

^a CENTRE FOR CELLULAR AND MOLECULAR BIOLOGY   (India)

^b Institute of Reproductive Medicine   (India)

Author keywords

[No Author keywords available]

Indexed keywords

ISOLEUCINE; MITOCHONDRIAL DNA; PROTEIN; PROTEIN ND4; THREONINE; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; HUMAN; INDIA; MALE; MISSENSE MUTATION; MITOCHONDRIAL GENETICS; OLIGOSPERMIA; PRIORITY JOURNAL; SPERMATOZOON MOTILITY;

DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INDIA; INFERTILITY, MALE; MALE; MUTATION, MISSENSE; NADH DEHYDROGENASE; OLIGOSPERMIA; PREVALENCE; RISK ASSESSMENT; RISK FACTORS; SPERM MOTILITY;

EID: 33751176670     PISSN: 00150282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2006.04.044     Document Type: Article

References (12)

1. Sharpe R.M. Lifestyle and environmental contribution to male infertility. Br Med Bull 56 (2000) 630-642
2. Thangaraj K., Gupta N.J., Pavani K., Reddy A.G., Subramainan S., Rani D.S., et al. Y chromosome deletions in azoospermic men in India. J Androl 24 (2003) 588-597
3. Foresta C., Moro E., and Ferlin A. Y chromosome microdeletions and alterations of spermatogenesis. Endocr Rev 22 (2001) 226-239
4. May-Panloup P., Chretien M.F., Savagner F., Vasseur C., Jean M., Malthiery Y., et al. Increased sperm mitochondrial DNA content in male infertility. Hum Reprod 18 (2003) 550-556
5. Thangaraj K., Joshi M.B., Reddy A.G., Rasalkar A.A., and Singh L. Sperm mitochondrial mutations as a cause of low sperm motility. J Androl 24 (2003) 388-392
6. De Bo R., Bordoni A., Sciacco M., Di Fonzo A., Galbiati S., Crimi M., et al. Remarkable infidelity of polymerase gamma-A associated with mutations in POLG1 exonuclease domain. Neurology 61 (2003) 903-908
7. Rovio A.T., Marchington D.R., Donat S., Schuppe H.S., Abel J., Fritsche E., et al. Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility. Nat Genet 29 (2001) 261-262
8. Folgero T., Bertheussen K., Lindal S., Torbergsen T., and Oian P. Mitochondrial disease and reduced sperm motility. Hum Reprod 8 (1993) 1863-1868
9. Lestienne P., Reynier P., Chretien M.F., Penisson-Besnier I., Malthiery Y., and Rohmer V. Oligoasthenospermia associated with multiple mitochondrial DNA rearrangements. Mol Hum Reprod 3 (1997) 811-814
10. World Health Organization. Laboratory manual for the examination of human semen and sperm-cervical mucus interaction. 4th ed. (1999), Cambridge University Press, Cambridge, United Kingdom
11. Thangaraj K., Chaubey G., Kivisild T., Reddy A.G., Singh V.K., Rasalkar A.A., et al. Reconstructing the origin of Andaman Islanders. Science 308 (2005) 996
12. Taylor R.W., and Turnbull D.M. Mitochondrial DNA mutations in human disease. Nat Rev Genet 6 (2005) 389-402