Genetic testing for male infertility: A postulated role for mutations in sperm nuclear matrix attachment regions

Genetic Testing

Volumn 1, Issue 2, 1997, Pages 125-129

  Kramer, Jeffrey A ^a   Zhang, Sizhong ^b   Yaron, Yuval ^a   Zhao, Yali ^b,c   Krawetz, Stephen A ^a,d  

^a WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b SICHUAN UNIVERSITY   (China)

^c CHINESE PLA GENERAL HOSPITAL   (China)

^d WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

NONHISTONE PROTEIN; PRM1 PROTEIN, HUMAN; PROTAMINE; PROTAMINE P2; SPERMATID TRANSITION PROTEINS;

ARTICLE; CELL NUCLEUS MATRIX; CHROMOSOME 16; GENETICS; HUMAN; MALE; MALE INFERTILITY; METABOLISM; MUTATION; POLYMERASE CHAIN REACTION; SPERMATOZOON;

CHROMOSOMAL PROTEINS, NON-HISTONE; CHROMOSOMES, HUMAN, PAIR 16; HUMANS; INFERTILITY, MALE; MALE; MUTATION; NUCLEAR MATRIX; POLYMERASE CHAIN REACTION; PROTAMINES; SPERMATOZOA;

EID: 0031292242     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.1997.1.125     Document Type: Article

References (24)

1. BALHORN, R., REED, S., and TANPHAICHITR, N. (1988). Aberrant protamine 1/protamine 2 ratios in sperm of infertile human males. Experientia 44, 52-55.
2. BARGMANN, C.I., HUNG, M.C., and WEINBERG, R.A. (1986). Multiple independent activations of the neu oncogene by a point mutation altering the transmembrane domain of p185. Cell 45, 649-657.
3. BELOKOPYTOVA, I.A., KOSTYLEVA, E.I., TOMILIN, A.N., VOROB'EV, V.I. (1993). Human male infertility may be due to a decrease of the protamine P2 content in sperm chromatin. Mol. Reprod. Dev. 34, 53-57.
4. BEREZNEY, R., and COFFEY, D.S. (1975). Nuclear protein matrix: Association with newly synthesized DNA. Science 289, 291-293.
5. BLANQUET, V., TURLEAU, C., GROSS-MORAND, M.S., SENAMAUD-BEAUFORT, C., DOZ, F., and BESMOND, C. (1995). Spectrum of germline mutations in the RB1 gene: A study of 232 patients with the hereditary and non-hereditary retinoblastoma. Hum. Mol. Genet. 4, 383-388.
6. BOULIKAS, T. (1993). Nature of DNA sequences at the attachment regions of genes to the nuclear matrix. J. Cell. Biochem. 52, 14-22.
7. BROTHERTON, T., ZENK, D., KAHANIC, S., and RENEKER, J. (1991). Avian nuclear matrix proteins bind very tightly to cellular DNA of the β-globin gene enhancer in a tissue-specific fashion. Biochemistry 30, 5845-5850.
8. CHOUDHARY, S.K., WYKES, S.M., KRAMER, J.A., MOHAMED, A.N., KOPPITCH, F., NELSON, J.E., and KRWETZ, S.A. (1995). A haploid expressed gene cluster exists as a single chromatin domain in human sperm. J. Biol. Chem. 270, 8755-8762.
9. CHU, C.S., TRAPNELL, B.C., CURRISTIN, S., CUTTING, G.R., and CRYSTAL, R.G. (1993). Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nat. Gen. 3, 151-156.
10. DE YEBRA, L., BALLESCA, J.L., VANRELL, J.A., BASSAS, L., and OLIVA, R. (1993). Complete selective absence of protamine P2 in humans. J. Biol. Chem. 268, 10553-10557.
11. DIJKWEL, P.A., and HAMLIN, J.L. (1988). Matrix attachment regions are positioned near replication initiation sites, genes and an inter-amplicon junction in the amplified dihydrofolate reductase domain of chinese hamster ovary cells. Mol. Cell. Biol. 8, 5398-5409.
12. DIXON, G.H., AIKEN, J.M., JANKOWSKI, J.M., MCKENZIE, D.I., MOIR, R., and STATES, J.C. (1986). Organization and evolution of the protamine genes of salmonid fishes. In G. Reeck, G. Goodwin and P. Pulgdomenech (eds) "Chromosomal Proteins and Gene Expression," Plenum Publishing Co., pp 287-314.
13. FORRESTER, W.C., EPNER, E., DRISCOLL, C., ENVER, T., BRICE, M., PAPAYANNOPOULOU, T., and GROUDINE (1990). A deletion of the human β-globin locus activation region causes a major alteration in chromatin structure and replication across the entire β-globin locus. Genes Dev. 4, 1637-1649.
14. INGRAM, V.N. (1959). Abnormal human haemoglobin III. The chemical difference between normal and sickle cell haemoglobin. Biochem. Biophys. Acta 36, 402-411.
15. KIERSZENBAUM, A.L., and TRES, L.L. (1975). Structural and transcriptional features of the mouse spermatid genome. J. Cell Biol. 65, 258-270.
16. KRAMER, J.A., and KRAWETZ, S.A. (1996). Nuclear matrix interactions within the sperm genome. J. Biol. Chem. 271, 11619-11622.
17. LEWIN, B. (1994). Chromatin and gene expression: Constant questions but changing answers. Cell 79, 397-406.
18. LIU, Q., THORLAND, E.C., and SOMMER, S.S. (1997). Inhibition of PCR amplification by a point mutation downstream of a primer. BioTechniques 22, 292-300.
19. MADISEN, L., HOAR, D.I., HOLROYD, C.D., CRISP, M., and HODES, M.E. (1987). DNA banking: The effects of storage of blood and isolated DNA on the integrity of DNA. Am. J. Med. Genet. 27, 379-390.
20. MEISTRICH, M.L. (1989). In Histones and Other Basic Nuclear Proteins (Hnilica, L.S., Stein, G.S., & Stein, J.L. eds. (CRC Press, Boca Raton, FL). pp. 165-182.
21. ROBINSON, S.I., SMALL, D., IDZERDA, R., MCKNIGHT, G.S., and VOGELSTEIN, B. (1983). The association of transcriptionally active genes with the nuclear matrix of the chicken oviduct. Nucl. Acids Res. 11, 5113-5130.
22. SCHLICKER, M., SCHNULLE, V., SCHNEPPEL, L., VOROB'EV, V.I., and ENGEL, W. (1994). Disturbances of nuclear condensation in human spermatozoa: search for mutations in the genes for protamine 1, protamine 2 and transition protein 1. Hum. Reprod. 9, 2313-2317.
23. STRATTON, M.R., and WOOSTER, R. (1996). Hereditary predisposition to breast cancer. Curr Opin Genet Dev. 6, 93-97.
24. YU, J., BOCK, J.H., SLIGHTOM, J.L., and VILLEPONTEAU, B. (1994). A 5′ β-globin matrix-attachment region and the polyoma enhancer together confer position-independent transcription. Gene 139, 139-145.