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

被引:66
作者
Rani, Deepa Selvi
Vanniarajan, Ayyasamy
Gupta, Nalini J.
Chakravarty, Baidyanath
Singh, Lalji
Thangaraj, Kumarasamy
机构
[1] Ctr Cellular & Mol Biol, Evolutionary & Med Genet Lab, Hyderabad 500007, Andhra Pradesh, India
[2] Inst Reprod Med, Kolkata, W Bengal, India
关键词
D O I
10.1016/j.fertnstert.2006.04.044
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
We have analyzed the mitochondrial DNA of 34 oligoasthenozoospermic men along with 150 normozoospermic fertile men from the Indian subcontinent. A novel missense mutation (C11994T) in the ND4 gene, which replaces threonine with isoleucine, was observed in all of the oligoasthenozoospermic men but not in any of the normozoospermic fertile men.
引用
收藏
页码:1783 / 1785
页数:3
相关论文
共 12 条
[1]  
DEBO R, 2003, NEUROLOGY, V61, P903
[2]   MITOCHONDRIAL DISEASE AND REDUCED SPERM MOTILITY [J].
FOLGERO, T ;
BERTHEUSSEN, K ;
LINDAL, S ;
TORBERGSEN, T ;
OIAN, P .
HUMAN REPRODUCTION, 1993, 8 (11) :1863-1868
[3]   Y chromosome microdeletions and alterations of spermatogenesis [J].
Foresta, C ;
Moro, E ;
Ferlin, A .
ENDOCRINE REVIEWS, 2001, 22 (02) :226-239
[4]   Oligoasthenospermia associated with multiple mitochondrial DNA rearrangements [J].
Lestienne, P ;
Reynier, P ;
Chretien, MF ;
PenissonBesnier, I ;
Malthiery, Y ;
Rohmer, V .
MOLECULAR HUMAN REPRODUCTION, 1997, 3 (09) :811-814
[5]   Increased sperm mitochondrial DNA content in male infertility [J].
May-Panloup, P ;
Chrétien, MF ;
Savagner, F ;
Vasseur, C ;
Jean, M ;
Malthièry, Y ;
Reynier, P .
HUMAN REPRODUCTION, 2003, 18 (03) :550-556
[6]  
ORGANISATION W.H., 1999, WHO LAB MANUAL EXAMI
[7]   Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility [J].
Rovio, AT ;
Marchington, DR ;
Donat, S ;
Schuppe, HC ;
Abe, J ;
Fritsche, E ;
Elliott, DJ ;
Laippala, P ;
Ahola, AL ;
McNay, D ;
Harrison, RF ;
Hughes, B ;
Barrett, T ;
Bailey, DMD ;
Mehmet, D ;
Jequier, AM ;
Hargreave, TB ;
Kao, SH ;
Cummins, JM ;
Barton, DE ;
Cooke, HJ ;
Wei, YH ;
Wichmann, L ;
Poulton, J ;
Jacobs, HT .
NATURE GENETICS, 2001, 29 (03) :261-262
[8]   Lifestyle and environmental contribution to male infertility [J].
Sharpe, RM .
BRITISH MEDICAL BULLETIN, 2000, 56 (03) :630-642
[9]   Mitochondrial DNA mutations in human disease [J].
Taylor, RW ;
Turnbull, DM .
NATURE REVIEWS GENETICS, 2005, 6 (05) :389-402
[10]   Reconstructing the origin of Andaman Islanders [J].
Thangaraj, K ;
Chaubey, G ;
Kivisild, T ;
Reddy, AG ;
Singh, VK ;
Rasalkar, AA ;
Singh, L .
SCIENCE, 2005, 308 (5724) :996-996