Abstract
We have determined Y-chromosomal DNA haplotypes in 73 infertile European males carrying Y microdeletions and compared them with the haplotypes of 299 infertile males lacking microdeletions. Chromosomes were typed with a set of 11 binary Y markers, which identified 8 haplogroups in the sample. Haplogroup frequencies were compared between 3 microdeletion classes and the non-deleted infertile males. Deletions arise on many different haplotypic backgrounds. No statistically significant differences in frequency were seen, although the small number of AZFa deletions lay predominantly on one branch of the Y haplotype tree.
Similar content being viewed by others
References
Elliott D.J., Cooke H.I. The molecular genetics of male infertility. Bioessays 1997, 19: 801–819.
Okabe M., Ikawa M., Ashkenas J. Male infertility and the genetics of spermatogenesis. Am. J. Hum. Genet. 1998, 62: 1274–1281.
Jobling M.A., Tyler-Smith C. New uses for new haplotypes: the human Y chromosomes, disease and selection. Trends Genet. 2000: in press.
Ma K., Sharkey A., Kirsch S., Vogt P., Keil R., Hargreave T.B., McBeath S., Chandley A.C. Towards the molecular localisation of the AZF locus: mapping of microdeletions in azoospermic men within 14 subintervals of interval 6 of the human Y chromosome. Hum. Mol. Genet. 1992, 1: 29–33.
Vogt P., Chandley A.C., Hargreave T.B., Keil R., Ma K., Sharkey A. Microdeletions in interval 6 of the Y chromosome of males with idiopathic sterility point to disruption of AZF, a human spermatogenesis gene. Hum. Genet. 1992, 89: 491–496.
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 Yq 11. Hum. Mol. Genet. 1996, 5: 933–943.
Reijo R., Lee T.Y., Salo P., Alagappan R., Brown L.G., Rosenberg 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 RNA-binding protein gene. Nat. Genet. 1995, 10: 383–393.
Reijo R., Alagappan R.K., Patrizio P., Page D.C. Severe oligozoospermia resulting from deletions of azoospermia factor gene on Y chromosome. Lancet 1996, 347: 1290–1293.
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.
Pryor J.L., Kent-First M., Muallem A., Van Bergen A.H, Nolten W.E., Meisner L., Roberts K.P. Microdeletions in the Y chromosome of infertile men. N. Engl. J. Med. 1997, 336: 534–539.
Stuppia L., Gatta V., Calabrese G., Guanciali Franchi P., 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 Yq 11. Hum. Genet. 1998, 102: 566–570.
Najmabadi H., Huang V., Yen P., Subbarao M.N., Bhasin D., Banaag L., Naseeruddin S., de Kretser D.M., Baker H.W., McLachIan 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 sequence-tagged site-based mapping strategy. J. Clin. Endocrinol. Metab. 1996, 81: 1347–1352.
Foresta C., Ferlin A., Garolla A., Rossato M., Barbaux S., De Bortoli A. Y-chromosome deletions in idiopathic severe testiculopathies. J. Clin. Endocrinol. Metab. 1997, 82: 1075–1080.
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.
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.
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 J.H., 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.
Vogt P. H. Human chromosome deletions in Yq1 1, AZF candidate genes and male infertility: history and update. Mol. Hum. Reprod. 1998, 4: 739–744.
Jobling M.A., Williams G., Schiebel K., Pandya A., McEIreavey K., Salas L., Rappold G.A., Affara N.A., Tyler-Smith C. A selective difference between human Y-chromosomal DNA haplotypes. Curr. Biol. 1998, 8: 1391–1394.
Kuroki Y., lwamoto, T., Lee J., Yoshiike M., Nozawa S., Nishida T., Ewis A.A., Nakamura H., Toda T., Tokunaga K., KOtliarova S.E., Kondoh N., Koh E., Nakimi M., Shinka T., Nakahori Y. Spermatogenic ability is different among males in different Y chromosome lineage. J. Hum. Genet. 1999, 44: 289–292.
Previdere C., Stuppia L., Gatta V., Fattorini P., Palka G., Tyler-Smith C. Y-chromosomal DNA haplotype differences in control and infertile Italian subpopulations. Eur. J. Hum. Genet. 1999, 7: 733–736.
World Health Organization WHO Laboratory Manual for the Examination of Human Semen and Cervical Mucus Interaction, ed. 3. Cambridge University Press, Cambridge, UK, 1992.
Kremer J.A., Tuerlings J.H., Meuleman E.J., Schoute F., Mariman E., Smeets D.F., Hoefsloot LA., Braat D.D., Merkus H.M. Microdeletions of the Y chromosome and intracytoplasmic sperm injection: from gene to clinic. Hum. Reprod. 1997, 12: 687–691.
Oliva R., Margarit E., Ballescà J.L., Carrió A., Sánchez A., Milà M., Jiménez L., Alvarez-Vijande J.R., Ballest F. Prevalence of Y chromosome microdeletions in oligospermic and azoospermic candidates for intracytoplasmicsperm injection. Fertil. Steril. 1998, 70: 506–510.
Foresta C., Moro E., Garolla A., Onisto M., Ferlin A. Y chromosome microdeletions in cryptorchidism and idiopathic infertility. J. Clin. Endocrinol. Metab. 1999, 84: 3660–3665.
Hammer M.F, Horai S. Y chromosomal DNA variation and the peopling of Japan. Am. J. Hum. Genet. 1995, 56: 951–962.
Casanova M., Leroy P., Boucekkine C., Weissenbach J., Bishop C., Fellous M., Purrello M., Fiori G., Siniscalco M. A human Y-linked DNA polymorphism and its potential for estimating genetic and evolutionary distance. Science 1985, 230: 1403–1406.
Underhill P.A., Jin L., Lin A.A., Mehdi S.Q., Jenkins T., Vollrath D., Davis R.W., Cavalli-Sforza L.L., Oefner P.J. Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography. Genome Res. 1997, 7: 996–1005.
Mathias N., Bayes M., Tyler-Smith C. Highly informative compound haplotypes for the human Y chromosome. Hum. Mol. Genet. 1994, 3: 115–123.
Whitfield L.S., Sulston J.E., Goodfellow P.N. Sequence variation of the human Y chromosome. Nature 1995, 378: 379–380.
Seielstad M.T., Hebert J.M., Lin A.A., Underhill P.A., Ibrahim M., Vollrath D., Cavalli-Sforza L.L. Construction of human Y-chromosomal haplotypes using a new polymorphic A to G transition. Hum. Mol. Genet. 1994, 3: 2159–1261.
Kwok C., Tyler-Smith C., Mendonca B.B., Hughes I., Berkovitz G.D., Goodfellow P.N., Hawkins J.R. Mutation analysis of the 2 kb 5’ to SRY in XY females and XY intersex subjects. J. Med. Genet. 1996, 33: 465–468.
Bianchi N.O., Bailliet, G., Bravi C.M., Carnese R.F., Rothhammer F., Martinez-Marignac V.L., Pena S.D. Origin of Amerindian Y-chromosomes as inferred by the analysis of six polymorphic markers. Am. J. Phys. Anthropol. 1997, 102: 79–89.
ZerjaI T., Dashnyam B., Pandya A., Kayser M., Roewer L., Santos F.R., Schiefenhovel W., Fretwell N., Jobling M.A., Harihara S., Shimizu K., Semjidmaa D., Sajantila A., Salo P., Crawford M.H., Ginter E.K., Evgrafov O.V., Tyler-Smith C. Genetic relationships of Asians and Northern Europeans, revealed by Y-chromosomal DNA analysis. Am. J. Hum. Genet. 1997, 60: 1174–1183.
Bao W., Zhu S., Pandya A., Zerial T., Xu J., Shu Q., Du R., Yang H., Tyler-Smith C. MSY2: a slowly evolving minisatellite on the human Y chromosome which provides a useful polymorphic marker in Chinese populations. Gene 2000, 244: 29–33.
Hurles M.E., Veitia R., Arroyo E., Armenteros M., Bertranpetit J., Perez-Lezaun A., Bosch E., Shlumukova M., Cambon-Thomsen A., McElreavey K., Lopez De Munain A., Rohl A., Wilson I.J., Singh L., Pandya A., Santos F.R., Tyler-Smith C., Jobling M.A. Recent male-mediated gene flow over a linguistic barrier in Iberia, suggested by analysis of a Y-chromosomal DNA polymorphism. Am. J. Hum. Genet. 1999, 65: 1437–1448.
Zerjal T., Pandya A., Santos F.R., Adhikari R., Tarazona E., Kayser M., Evgrafov O., Singh L., Thangaraj K, Destro-Bisol G., Thoma M.G., Qamar R., Mehdi S.Q., Rosser Z.H., Hurles M.E., Jobling M.A., Tyler-Smith C. The use of Y-chromosomal DNA variation to investigate population history: recent male spread in Asia and Europe. In: Papiha S.S., Deka R., Chakraborty R. (Eds.), Genomic diversity: applications in human population genetics. Kluwer Academic/Plenum Publishers, New York, 1999, pp. 91–101.
Author information
Authors and Affiliations
Additional information
An erratum to this article is available at http://dx.doi.org/10.1007/BF03343799.
Rights and permissions
About this article
Cite this article
Paracchini, S., Stuppia, L., Gatta, V. et al. Y-chromosomal DNA haplotypes in infertile European males carrying Y-microdeletions. J Endocrinol Invest 23, 671–676 (2000). https://doi.org/10.1007/BF03343792
Published:
Issue Date:
DOI: https://doi.org/10.1007/BF03343792