The impact of mitochondrial genetics on male infertility

被引:75
作者
St John, JC
Jokhi, RP
Barratt, CLR
机构
[1] Univ Birmingham, Sch Med, Div Med Sci, Birmingham B15 2TJ, W Midlands, England
[2] Univ Sheffield, Dept Obstet & Gynaecol, Sheffield, S Yorkshire, England
来源
INTERNATIONAL JOURNAL OF ANDROLOGY | 2005年 / 28卷 / 02期
基金
欧盟地平线“2020”;
关键词
male infertility; mitochondrial DNA; oxidative phosphorylation; replication; transcription;
D O I
10.1111/j.1365-2605.2005.00515.x
中图分类号
R69 [泌尿科学(泌尿生殖系疾病)];
学科分类号
摘要
Human mitochondrial DNA (mtDNA) encodes 13 of the polypeptides associated with the process of oxidative phosphorylation (OXPHOS), the cells most important ATP generating pathway. Until recently, the effects of mtDNA rearrangements on male fertility have been largely ignored. However, it is becoming increasingly evident that both point mutations and large-scale deletions may have an impact on sperm motility and morphology. We discuss the implications of these rearrangements in the context of the clinical setting. We further discuss the possible consequences resulting from the transmission of sperm mtDNA deletions to the offspring. The role of nucleo-cytoplasmic interaction is investigated in the context of nuclear transcription and replication factors that regulate mtDNA transcription and replication.
引用
收藏
页码:65 / 73
页数:9
相关论文
共 82 条
[1]   SEQUENCE AND ORGANIZATION OF THE HUMAN MITOCHONDRIAL GENOME [J].
ANDERSON, S ;
BANKIER, AT ;
BARRELL, BG ;
DEBRUIJN, MHL ;
COULSON, AR ;
DROUIN, J ;
EPERON, IC ;
NIERLICH, DP ;
ROE, BA ;
SANGER, F ;
SCHREIER, PH ;
SMITH, AJH ;
STADEN, R ;
YOUNG, IG .
NATURE, 1981, 290 (5806) :457-465
[2]   Misconceptions about mitochondria and mammalian fertilization: Implications for theories on human evolution [J].
AnkelSimons, F ;
Cummins, JM .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1996, 93 (24) :13859-13863
[3]   The inheritance of genes in mitochondria and chloroplasts: Laws, mechanisms, and models [J].
Birky, CW .
ANNUAL REVIEW OF GENETICS, 2001, 35 :125-148
[4]   UNIPARENTAL INHERITANCE OF MITOCHONDRIAL AND CHLOROPLAST GENES - MECHANISMS AND EVOLUTION [J].
BIRKY, CW .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1995, 92 (25) :11331-11338
[5]   Prenatal testing in ICSI pregnancies: incidence of chromosomal anomalies in 1586 karyotypes and relation to sperm parameters [J].
Bonduelle, M ;
Van Assche, E ;
Joris, H ;
Keymolen, K ;
Devroey, P ;
Van Steirteghem, A ;
Liebaers, I .
HUMAN REPRODUCTION, 2002, 17 (10) :2600-2614
[6]  
BOULET L, 1992, AM J HUM GENET, V51, P1187
[7]  
BROWN MD, 1992, GENETICS, V130, P163
[8]  
Chinnery PF, 2001, AM J MED GENET, V98, P235, DOI 10.1002/1096-8628(20010122)98:3<235::AID-AJMG1086>3.0.CO
[9]  
2-O
[10]   An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy [J].
Clark, KM ;
Taylor, RW ;
Johnson, MA ;
Chinnery, PF ;
Chrzanowska-Lightowlers, ZMA ;
Andrews, RM ;
Nelson, IP ;
Wood, NW ;
Lamont, PJ ;
Hanna, MG ;
Lightowlers, RN ;
Turnbull, DM .
AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (05) :1330-1339