SPANX Gene Variation in Fertile and Infertile Males

REFERENCES

• Brasch-Andersen, C., Christiansen, L., Tan, Q., Haagerup, A., Vestbo, J. and Kruse, T. A. (2004) Possible gene dosage effect of glutathione-S-transferases on atopic asthma: Using real-time PCR for quantification of GSTM1 and GSTT1 gene copy numbers. Human Mutation 24:208–214.
   PubMed Web of Science ®Google Scholar
• Carrell, D. T., De Jonge, C. and Lamb, D. J. (2006) The genetics of male infertility: A field of study whose time is now. Arch Androl 52(4):269–274.
   PubMed Web of Science ®Google Scholar
• Ferlin, A., Arredi, B. and Foresta, C. (2006) Genetic causes of male infertility. Repro Tech 22:133–141.
   Google Scholar
• Frank, B., Bermejo, J. L., Hemminki, K., Sutter, C., Wappenschmidt, B., Meindl, A., Kiechle-Bahat, M., Bugert, P., Schmutzler, P. K., Bartram, C. R. and Burwinkel, B. (2007) Copy number variant in the candidate tumor suppressor gene MTUS1 and familial breast cancer risk. Carcinogenesis 28(7):1442–1445.
   PubMed Web of Science ®Google Scholar
• Giachini, C., Guarducci, E., Longepied, G., Degl'Innocenti, S., Becherini, L., Forti, G., Mitchell, M. J. and Krausz, C. (2005) The gr/gr deletion(s): A new genetic test in male infertility? J Med Genet 42:497–502.
   PubMed Web of Science ®Google Scholar
• Giachini, C., Laface, I., Guarducci, E., Balercia, G., Forti, G. and Krausz, C. (2008) Partial AZFc deletions and duplications: Clinical correlates in the Italian population. Hum Genet 124(4)399–10.
   PubMedGoogle Scholar
• Kidd, J. M., Cooper, G. M., Donahue, W. F., Hayden, H. S., Sampas, N., Graves, T., Hansen, N., Teague, B., Alkan, C., Antonacci, F., . (2008) Mapping and sequencing of structural variation from eight human genomes. Nature 453(7191):56–64.
   PubMed Web of Science ®Google Scholar
• Kuroda-Kawaguchi, T., Skaletsky, H., Brown, L. G., Minx, R J., Cordum, H. S., Waterston, R. H., Wilson, R. K., Silber, S., Oates, R., Rozen, S. and Page, D. C. (2001) The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet 29:279–286.
   PubMed Web of Science ®Google Scholar
• Lee, C, lafrate, A. J. and Brothman, A. R. (2007) Copy number variations and clinical cytogenetic diagnosis of constitutional disorders. Nature Genetics Supplement 39:S48–S54.
   PubMed Web of Science ®Google Scholar
• Lee, C.-H., Wu, C.-C. and Chiang, H.-S. (2009) Gene copy number variations in Asian patients with congenital bilateral absense of the vas deferens. Human Reprod 24(3):748–755.
   PubMedGoogle Scholar
• Lin, Y. W., Hsu, L. C., Kuo, P. L., Huang, W. J., Chiang, H. S., Yeh, S. D., Hsu, T. Y., Yu, Y H., Hsiao, K. N., Cantor, R. M. and Yen, P. H. (2007) Partial duplication at AZFc on the Y chromosome is a risk factor for impaired spermatogenesis in Han Chinese in Taiwan. Hum Mutat 28(5):486–494.
   PubMed Web of Science ®Google Scholar
• Livak, K. J. and Schmittgen, T. D. (2001) Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods 25(4):402.
   PubMed Web of Science ®Google Scholar
• Lupski, J. (1998) Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits. TIG 14:417–422.
   PubMed Web of Science ®Google Scholar
• Martin, R. H. (2008) Cytogenetic determinants of male fertility. Hum Reprod Update 14(4):379–390.
   PubMedGoogle Scholar
• Martinez-Heredia, J., Estanyol, J. M., Ballesca, J. L. and Oliva, R. (2006) Proteomic identification of human sperm proteins. Proteomics 6:4356–1369.
   PubMed Web of Science ®Google Scholar
• Salemi, M., Calogero, A. E., Di Benedetto, D., Cosentino, A., Barone, N., Rappazzo, G. and Vicari, E. (2004) Expression of SPANX proteins in human-ejaculated spermatozoa and sperm precursors. Int J Androl 27:134–139.
   PubMedGoogle Scholar
• Salemi, M., Calogero, A. E., Di Benedetto, D., Cosentino, A., Barone, N., Rappazzo, G. and Vicari, E. (2006) Expression of SpanX proteins in normal testes and in testicular germ cell tumors. Int J Androl 29:368–373.
   PubMedGoogle Scholar
• Shao, W., Tang, J., Song, W., Wang, C., Li, Y., Wilson, C. M. and Kaslow, R. A. (2007) CCL3L1 and CCL4L1: Variable gene copy number in adolescents with and without human immunodeficiency virus type 1 (HIV-1) infection. Genes Immun Apr:8(3):224–231.
   PubMedGoogle Scholar
• Sharp, A. J., Locke, D. P., McGrath, S. D., Cheng, Z., Bailey, J. A., Vallente, R. U., Pertz, L. M., Clark, R. A., Schwartz, S., Segraves, R., . (2005) Segmental duplications and copy-number variation in the human genome. Am J Hum Genet 77(1):78–88.
   PubMed Web of Science ®Google Scholar
• Stankiewicz, P. and Lupski, J. (2002) Genome architecture, rearrangements, and genomic disorders. Trends Genets 18:74–82.
   PubMed Web of Science ®Google Scholar
• Westbrook, V. A., Diekman, A. B., Klotz, K. L., Khole, V. V., von Kap-Herr, C., Golden, W. L., Eddy, R. L., Shows, T. B., Stoler, M. H., Lee, C. Y., . (2000) Spermatid-specific expression of the novel X-linked gene product SPAN-X localized to the nucleus of human spermatozoa. Biol Reprod 63:469–181.
   PubMed Web of Science ®Google Scholar
• Westbrook, V. A., Schoppee, P. D., Diekman, A. B., Klotz, K. L., Allietta, M., Hogan, K. T., Slingluff, C. L., Patterson, J. W., Frierson, H. F., Irvin, W. P., Jr., . (2004) Genomic organization, incidence, and localization of the SPAN-x family of cancer-testis antigens in melanoma tumors and cell lines. Clin Cancer Res 1:10(1 Pt 1): 101–112.
   PubMedGoogle Scholar
• Westbrook, V. A., Schoppee, P. D., Vanage, G. R., Klotz, K. L., Diekman, A. B., Flickinger, C. J., Coppola, M. A. and Herr, J. C. (2006) Hominoid-specific SPANXA/D genes demonstrate differential expression in individuals and protein localization to a distinct nuclear envelope domain during spermatid morphogenesis. Mol Hum Reprod 12(11):703–716.
   PubMedGoogle Scholar
• World Health Organization (1999) WHO laboratory manual for the examination of human and sperm-cervical mucus interactions. Cambridge University Press, Cambridge, UK.
   Google Scholar
• Yang, Y., Chung, E. K., Wu, Y L, Savelli, S. L., Nagaraja, H. N., Zhou, B., Hebert, M., Jones, K. N., Shu, Y., Kitzmiller, K., . (2007) Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): Low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans. Am J Hum Genet Jun:80(6): 1037–1054.
   PubMed Web of Science ®Google Scholar
• Zendman, A. J., Zschocke, J., van Kraats, A. A., Kurpisz, M., Weidle, U. H., Weiss, E. H. and van Muijen, G. N. (2003) The human SPANX multi-gene family: genomic organization, alignment and expression in male germ cells and tumor cell lines. Gene 309(2):125–133.
   PubMedGoogle Scholar