Abstract
The long arm of the Y chromosome contains genes mapped in loci involved in male infertility, short stature and gonadoblastoma. However, many of these genes have not been fully characterized, and are not currently investigated in patients affected by such diseases. We report a study aimed to the genomic characterization of 5 genes mapped within the Y chromosome: BPY2, PRY, TTY1, TTY2, and VCY. Exon-intron boundaries were detected for each gene, and PCR analysis was carried out to investigate the involvement of these genes in different re-arrangements of the Y chromosome. It was found that BPY2 and PRY are lost in some infertile patients with Yq microdeletions, suggesting that they could play a role in male gametogenesis. On the other hand, these patients retain some copies of TTY1 and TTY2 genes, due to the presence of copies in Yp, and of VCY, which has homologous copies on the X chromosome. On the basis of their localization, these genes could be candidate for the gonadoblastoma locus (TTY1, TTY2) and for the control growth locus (VCY).
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Lahn B.T., Page D.C. Functional coherence of the human Y chromosome. Science 1997, 278: 675–680.
Goodfellow P.N., Lovell-Badge R. SRY and sex determination in mammals. Annu. Rev. Genet. 1993, 27: 71–91.
Chandley A.C., Cooke H.J. Human male fertility — Y-linked genes and spermatogenesis. Hum. Mol. Genet. 1994, 3: 1449–1452.
Stuppia L., Mastroprimiano G., Calabrese G., Peila R., Tenaglia R., Palka G. Microdeletions in interval 6 of the Y chromosome detected by STS-PCR in 6 of 33 patients with idiopathic oligo- or azoospermia. Cytogenet. Cell Genet. 1996, 72: 155–158.
Vogt P.H., Edelmann A., Kirsch S., Henegariu O., Hirschmann P., Kiesewetter F., Kohn F.M., Schill W.B., Farah S., Ramos C., Hartmann M., Hartschuh W., Meschede D., Behre H.M., Castel A., Nieschlag E., Weidner W., Grone H.J., Jung A., Engel W., Haidl G. Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum. Mol. Genet. 1996, 5: 933–943.
Najmabadi H., Huang V., Yen P., Subbarao M.N., Bhasin D., Banaag L., Naseeruddin S., de Kretser D.M., Baker G.H.W., McLachlan R.I., Loveland K.A., Bhasin S. Substantial prevalence of microdeletions of the Ychromosome in infertile men with idiopathic azoospermia and oligozoospermia detected using a sequencetagged site-based mapping strategy. J. Clin. Endocrinol. Metab. 1996, 81: 1347–1353.
Stuppia L., Gatta V., Calabrese G., Franchi P.G., Morizio E., Bombieri C., Mingarelli R., Sforza V., Frajese G., Tenaglia R., Palka G. A quarter of men with idiopathic oligo-azoospermia display chromosomal abnormalities and microdeletions of different types in interval 6 of Yq11. Hum. Genet. 1998, 102: 566–570.
Ferlin A., Moro E., Garolla A., Foresta C. Human male infertility and Y chromosome deletions: role of the AZF-candidate genes DAZ, RBM and DFFRY. Hum. Reprod. 1999, 14: 1710–1716.
McElreavey K., Krausz C. Male infertility and the Y chromosome. Am. J. Hum. Genet. 1999, 64: 928–933.
Ma K., Inglis J.D., Sharkey A., Bickmore W.A., Hill R.E., Prosser E.J., Speed R.M., Thomson E.J., Jobling M., Taylor K., Wolfe J., Cooke H.J., Hargreave T.B., Chandley A.C. A Y chromosome gene family with RNA binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. Cell 1993, 75: 1287–1295.
Reijo R., Lee T.Y., Salo P., Alagappan R., Brown L.G., Rosemberg M., Rozen S., Jaffe T., Straus D., Hovatta O., de La Chapelle A., Silber S., Page D.C. Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNAbinding protein gene. Nat. Genet. 1995, 10: 383–392.
Brown G.M., Furlong R.A., Sargent C.A., Erickson R.P., Longepied G., Mitchell M., Jones M.H., Hargreave T.B., Cooke H.J., Affara N.A. Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxrb interval of the mouse Y chromosome of the Dffry gene. Hum. Mol. Genet. 1998, 7: 97–107.
Sun C., Skaletsky H., Birren B., Devon K., Tang Z., Silber S., Oates R., Page D.C. An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y. Nat. Genet. 1999, 23: 429–432.
Foresta C., Ferlin A., Moro E. Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a major role for DBY in male infertility. Hum. Mol. Genet. 2000, 9: 1161–1169.
Tsuchiya K., Reijo R., Page D.C., Disteche C.M. Gonadoblastoma: molecular definition of the susceptibility region of the Y chromosome. Am. J. Hum. Genet. 1995, 57: 1400–1407.
Salo P., Kaariainen H., Page D.C., de la Chapelle A. Deletion mapping of stature determinants on the long arm of the Y chromosome. Hum. Genet. 1995, 95: 283–286.
Krausz C., Bussani-Mastellone C., Granchi S., McElreavy K., Scarselli G., Forti G. Screening for microdeletions of Y chromosome genes in patients undergoing intracytoplasmic sperm injection. Hum. Reprod. 1999, 14: 1717–1721.
Yen P. A long range restriction map of deletion interval 6 of the human Y chromosome: a region frequently deleted in azoospermic males. Genomics 1998, 54: 5–12.
Lahn B.T., Page D.C. A human sex-chromosomal gene family expressed in male germ cells and encoding variably charged proteins. Hum. Mol. Genet.. 2000, 22: 311–319.
Sargent C.A., Boucher C.A., Kirsch S., Brown G., Weiss B., Trundley A., Burgoyne P., Saut N., Durand C., Levy N., Terriou P., Hargreave T., Cooke H., Mitchell M., Rappold G.A., Affara N.A. The critical region of overlap defining the AZFa male infertility interval of proximal Yq contains three transcribed sequences. J. Med. Genet. 1999, 36: 670–677.
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Stuppia, L., Gatta, V., Fogh, I. et al. Characterization of novel genes in AZF regions. J Endocrinol Invest 23, 659–663 (2000). https://doi.org/10.1007/BF03343790
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DOI: https://doi.org/10.1007/BF03343790