Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest

Journal of Human Genetics

Volumn 51, Issue 6, 2006, Pages 533-540

  Sato, Hisashi ^a   Miyamoto, Toshinobu ^a   Yogev, Leah ^b   Namiki, Mikio ^c   Koh, Eitesu ^c   Hayashi, Hiroaki ^a   Sasaki, Yoshihito ^a   Ishikawa, Mutsuo ^a   Lamb, Dolores J ^d   Matsumoto, Naomichi ^f   Birk, Ohad S ^e   Niikawa, Norio ^g,h   Sengoku, Kazuo ^a  

^a ASAHIKAWA MEDICAL COLLEGE   (Japan)

^b LIS MATERNITY HOSPITAL   (Israel)

^c KANAZAWA UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCE   (Japan)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

^e BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^f YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^g NAGASAKI UNIVERSITY GRADUATE SCHOOL OF BIOMEDICAL SCIENCES   (Japan)

^h JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

Author keywords

Azoospermia; Infertility; MEI1; Meiosis; Polymorphisms

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA;

AMINO ACID SEQUENCE; ARTICLE; AZOOSPERMIA; CLINICAL ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; DNA SEQUENCE; EUROPEAN AMERICAN; EXON; GENE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENOTYPE; HAPLOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; ISRAEL; JAPAN; MALE; MEI1 GENE; MEIOSIS; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; SPERMATOGENESIS;

ALLELES; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CASE-CONTROL STUDIES; DNA PRIMERS; DNA, COMPLEMENTARY; EUROPE; GENE FREQUENCY; HAPLOTYPES; HUMANS; ISRAEL; MALE; MEIOSIS; MICE; MOLECULAR SEQUENCE DATA; OLIGOSPERMIA; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID; SPECIES SPECIFICITY; UNITED STATES;

EID: 33745446478     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-006-0394-5     Document Type: Article

References (23)

1. Baudat F, Manova K, Yuen JP, Jasin M, Keeney S (2000) Chromosome synapsis defects and sexually dimorphic meiotic progression in mice lacking Spo11. Mol Cell 6:989-998
2. Crackower MA, Kolas NK, Noguchi J, Sarao R, Kikuchi K, Kaneko H, Kobayashi E, Kawai Y, Kozieradzki I, Landers R et al (2003) Essential role of Fkbp6 in male fertility and homologous chromosome pairing in meiosis. Science 300:1291-1295
3. Devroey P, Van Steirteghem A (2004) A review of ten years experience of ICSI. Hum Reprod 10:19-28
4. 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. Lancet 354:640-643
5. Edelmann W, Cohen PE, Kneitz B, Winand N, Lia M, Heyer J, Kolodner R, Pollard JW, Kucherlapati R (1999) Mammalian MutS homologue 5 is required for chromosome pairing in meiosis. Nat Genet 21:123-127
6. Edwards RG, Steptoe PC, Purdy JM (1980) Establishing full-term human pregnancies using cleaving embryos grown in vitro. Br J Obstet Gynecol 87:737-756
7. Elliott DJ, Millar MR, Oghene K, Ross A, Kiesewetter F, Pryor J, McIntyre M, Hargreave TB, Saunders PT, Vogt PH et al (1997) Expression of RBM in the nuclei of human germ cells is dependent on a critical region of the Y chromosome long arm. Proc Natl Acad Sci USA 94:3848-3853
8. Excoffier L, Slatkin M (1995) Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population. Mol Biol Evol 12:921-927
9. Kneitz B, Cohen PE, Avdievich E, Zhu L, Kane MF, Hou H Jr, Kolodner RD, Kucherlapati R, Pollard JW, Edelmann W (2000) MutS homolog 4 localization to meiotic chromosomes is required for chromosome pairing during meiosis in male and female mice. Genes Dev 14:1085-1097
10. Lewontin RC (1988) On measures of gametic disequilibrium. Genetics 120:849-852
11. Libby BJ, Reinholdt LG, Schimenti JC (2003) Positional cloning and characterization of Mei1, a vertebrate-specific gene required for normal meiotic chromosome synapsis in mice. Proc Natl Acad Sci USA 100:15706-15711
12. Matzuk MM, Lamb DJ (2002) Genetic dissection of mammalian fertility pathway. Nat Med 8[Suppl 1]:S41-S49
13. Miyamoto T, Hasuike S, Yogev L, Maduro MR, Ishikawa M, Westphal H, Lamb DJ (2003) Azoospermia in patients heterozygous for a mutation in SYCP3. Lancet 362:1714-1719
14. Munroe RJ, Bergstrom RA, Zheng QY, Libby B, Smith R, John SW, Schimenti KJ, Browning VL, Schimenti JC (2000) Mouse mutants from chemically mutagenized embryonic stem cells. Nat Genet 24:318-321
15. Nakamura Y, Kitamura M, Nishimura K, Koga M, Kondoh N, Takeyama M, Matsumiya K, Okuyama A (2001) Chromosomal variants among 1790 infertile men. Int J Urol 8:49-52
16. Nasmyth K (2002) Segregating sister genomes: the molecular biology of chromosome separation. Science 297:559-565
17. Pittman DL, Cobb J, Schimenti KJ, Wilson LA, Cooper DM, Brignull E, Handel MA, Schimenti JC (1998) Meiotic prophase arrest with failure of chromosome synapsis in mice deficient for Dmc1, a germline-specific RecA homolog. Mol Cell 1:697-705
18. Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, Rosenberg M, Rozen S, Jaffe T, Straus D, Hovatta O et al (1995) Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet 10:383-393
19. Reinholdt LG, Schimenti JC (2005) Mei1 is epistatic to Dmc1 during mouse meiosis. Chromosoma 114:127-134
20. Romanienko PJ, Camerini-Otero RD (2000) The mouse Spo11 gene is required for meiotic chromosome synapsis. Mol Cell 6:975-987
21. Sun C, Skaletsky H, Birren B, Devon K, Tang Z, Silber S, Oates R, Page DC (1999) An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y. Nat Genet 23:429-432
22. Yoshida K, Kondoh G, Matsuda Y, Habu T, Nishimune Y, Morita T (1998) The mouse RecA-like gene Dmc1 is required for homologous chromosome synapsis during meiosis. Mol Cell 1:707-718
23. Yuan L, Liu JG, Zhao J, Brundell E, Daneholt B, Hoog C (2000) The murine SCP3 gene is required for synaptonemal complex assembly, chromosome synapsis, and male fertility. Mol Cell 5:73-83