Absence of mutations in the PCI gene in subfertile men

Molecular Human Reproduction

Volumn 10, Issue 11, 2004, Pages 807-813

  Gianotten, Judith ^a   Schimmel, Alinda W M ^a   van der Veen, Fulco ^a   Lombardi, M Paola ^a   Meijers, Joost C M ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Male subfertility; Protein C inhibitor

Indexed keywords

PLASMINOGEN ACTIVATOR INHIBITOR 3;

ARTICLE; AZOOSPERMIA; CONTROLLED STUDY; DISEASE SEVERITY; GENE DELETION; GENETIC SCREENING; HUMAN; IDIOPATHIC DISEASE; MAJOR CLINICAL STUDY; MALE; MALE INFERTILITY; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPIC VARIATION; POINT MUTATION; PRIORITY JOURNAL; REPRODUCTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEMEN ANALYSIS; SEMINAL PLASMA; SEQUENCE ANALYSIS; SPERMATOZOON ABNORMALITY; SUBFERTILITY; TERATOZOOSPERMIA;

ADULT; DNA MUTATIONAL ANALYSIS; HUMANS; MALE; MUTATION; OLIGOSPERMIA; PROTEIN C INHIBITOR; SEMEN;

EID: 11044219979     PISSN: 13609947     EISSN: None     Source Type: Journal    
DOI: 10.1093/molehr/gah109     Document Type: Article

References (35)

1. Alders M, Ryan A, Hodges M, Bliek J, Feinberg AP, Privitera O, Westerveld A, Little PFR and Mannens M (2000) Disruption of a novel imprinted Zinc-Finger gene, ZNF215, in Beckwith-Wiedemann Syndrome. Am J Hum Genet 66,1473-1484.
2. Billingsley GD, Walter MA, Hammond GL and Cox DW (1993) Physical mapping of four serpin genes: alpha 1-antitrypsin, alpha 1-antichymotrypsin, corticosteroid-binding globulin, and protein C inhibitor, within a 280-kb region on chromosome I4q321. Am J Hum Genet 52,343-353.
3. Cooper DN and Krawczak M (1990) The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions. Hum Genet 85,55-74.
4. Christensson A and Lilja H (1994) Complex formation between protein C inhibitor and prostate-specific antigen in vitro and in human semen. Eur J Biochem 220,45-53.
5. Elisen MG, van Kooij RJ, Nolte MA, Marquart JA, Lock TM, Bouma BN and Meijers JC (1998) Protein C inhibitor may modulate human spermoocyte interactions. Biol Reprod 58,670-677.
6. España F, Berrettini M and Griffin JH (1989) Purification and characterization of plasma protein C inhibitor. Thromb Res 55,369-384.
7. España F, Gilabert J, Estelles A, Romeu A, Aznar J and Cabo A (1991) Functionally active protein C inhibitor/plasminogen activator inbibitor-3 (PCI/PAI-3) is secreted in seminal vesicles, occurs at high concentrations in human seminal plasma and complexes with prostate-specific antigen. Thromb Res 64,309-320.
8. España F, Fink E, Sanchez-Cuenca J, Gilabert J, Estelles A and Witzgall K (1995) Complexes of tissue kallikrein with protein C inhibitor in human semen and urine. Eur J Biochem 234,641-649.
9. Geiger M, Huber K, Wojta J, Stingl L, España F, Griffin JH and Binder BR (1989) Complex formation between urokinase and plasma protein C inhibitor in vitro and in vivo. Blood 74,722-728.
10. Grootegoed JA, Baarends WM, Roest HP and Hoeijmakers JHJ (1998) Knockout mouse model and gametogenic failure. Mol Cell Endocrinol 145,161-166.
11. Hackstein JHP, Hochstenbach R and Pearson PL (2000) Towards an understanding of the genetics of human male infertility: lessons from flies. Trends Genet 16,565-572.
12. Hargreave TB (2000) Genetic basis of male fertility. Br Med Bull 56, 650-671.
13. He S, Lin YL and Liu YX (1999) Functionally inactive protein C inhibitor in seminal plasma may be associated with infertility. Mol Hum Reprod 5, 513-519.
14. Hermans JM, Jones R and Stone SR (1994) Rapid inhibition of the sperm protease acrosin by protein C inhibitor. Biochemistry 33,5440-5444.
15. Kuroda-Kawaguchi T, Skaletsky H, Brown LG, Minx PJ, Cordum HS, Waterston RH, Wilson RK, Silber S, Oates R, Rozen S and Page DC (2001) The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet 29, 279-286.
16. Laurell M, Christensson A, Abrahamsson PA, Stenflo J and Lilja H (1992) Protein C inhibitor in human body fluids. Seminal plasma is rich in inhibitor antigen deriving from cells throughout the male reproductive system. J Clin Invest 89,1094-1101.
17. Meijers JCM, Kanters DHAJ, Vlooswijk RAA, van Erp HE, Hessing M and Bouma BN (1988) Inactivation of human plasma kallikrein and factor XIa by protein C inhibitor. Biochemistry 27,4231-4237.
18. Meijers JC and Chung DW (1991) Organization of the gene coding for human protein C inhibitor (plasminogen activator inhibitor-3). Assignment of the gene to chromosome 14. J Biol Chem 266,15028-15034.
19. Miller SA, Dykes DD and Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16,1215.
20. Miyamoto T, Hasuike S, Yogev L, Maduro MR, Ishikawa M, Westphal H and Lamb DJ (2003) Azoospermia in patients heterozygous for a mutation in SYCP3. Lancet 362,1714-1719.
21. Molnar R and Georgopulos K (1994) The Ikaros gene encodes a family of functionally diverse zinc finger DNA-binding proteins. Mol Cell Biol 14,8292-8303.
22. Murakami T, Nishiyori A, Takiguchi M and Mori M (1990) Promoter and 11 kb upstream enhancer elements responsible for hepatoma cell-specific expression of the rat ornithine transcarbamylase gene. Mol Cell Biol 10,1180-1191.
23. Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, Rosenberg M, Rozen S, Jaffe T, Strauss 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.
24. Repping S, Skaletsky H, Lange J, Silber S, van der Veen F, Oates RD, Page DC and Rozen S (2002) Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. Am J Hum Genet 71,906-922.
25. SNP database http://www.ncbinih.gov.
26. Suzuki K (2000) Protein C inhibitor (PAI-3): structure and multi-function. Fibrinol Proteol 14,133-145.
27. Suzuki K, Nishioka J and Hashimoto S (1983) Protein C Inhibitor; purification from human plasma and characterization. J Biol Chem 258, 163-168.
28. Suzuki K, Deyashiki Y, Nishioka J, Kurachi K, Akira M, Yamamoto S and Hashimoto S (1987) Characterization of a cDNA for human protein C inhibitor. A new member of the plasma serine protease inhibitor superfamily. J Biol Chem 262,611-616.
29. Tuerlings JH, France de HF, Hamers A, Hordijk R, Van hemel JO, Hansson K, Hoovers JM, Madan K, Van der Blij-Philipsen M, Gerssen-Schoorl KB et al. (1998) Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experience. Eur J Hum Genet 6, 194-200.
30. Uhrin P, Dewerchin M, Hilpert M, Chrenek P, Schofer C, Zechmeister-Machhart M, Kronke G, Vales A, Carmeliet P, Binder BR and Geiger M (2000) Disruption of the protein C inhibitor gene results in impaired spermatogenesis and male infertility. J Clin Invest 106,1531-1539.
31. Venables JP and Cooke HJ (2000) Lessons from knockout and transgenic mice for infertility in men. J Endocrinol Invest 23,584-591.
32. Watanabe K, Saito A and Tamaoki T (1987) Cell-specific enhancer activity in a far upstream region of the human alpha-fetoprotein. J Biol Chem 262,4812-4818.
33. World Health Organization (1992) WHO Laboratory Manual for the Examination of Human Semen and Sperm-Cervical Mucus Interaction. 3rd edn. Cambridge University Press, New York, pp. 1-107.
34. Zechmeister-Machhart M, Hufnagl P, Uhrin P, Korschineck Binder BR and Geiger M (1997) Molecular cloning and sequence analysis of the mouse protein C inhibitor gene. Gene 186,61-66.
35. Zheng X, Geiger M, Ecke S, Bielek E, Donner P, Eberspacher U, Schleuning WD and Binder BR (1994) Inhibition of acrosin by protein C inhibitor and localization of protein C inhibitor to spermatozoa. Am J Physiol 267,466-472.