Journal Mobile Options
Table of Contents
Vol. 91, No. 1-4, 2000
Issue release date: 2000

TSPY variants in six loci on the human Y chromosome

Dechend F. · Williams G. · Skawran B. · Schubert S. · Krawczak M. · Tyler-Smith C. · Schmidtke J.
To view the fulltext, log in and/or choose pay-per-view option

Individual Users: Register with Karger Login Information

Please create your User ID & Password





Contact Information











I have read the Karger Terms and Conditions and agree.

To view the fulltext, please log in

To view the pdf, please log in

Abstract

We have studied the structure, organization, and evolution of the human TSPY gene family by mapping three sequence variants identified through RT-PCR analysis onto genomic clones derived from two different YAC contigs. TSPY gene family members occur in at least six locations on the human Y chromosome, and each cluster contains a unique combination of variants. Our data further suggest that an 18-bp tandem duplication found in TSPY exon 1 originated from an unequal sister chromatid exchange between two tandemly arranged TSPY clusters.   



Copyright / Drug Dosage

Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher or, in the case of photocopying, direct payment of a specified fee to the Copyright Clearance Center.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in goverment regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

References

  1. Arnemann J, Epplen JT, Cooke HJ, Sauermann U, Engel W, Schmidtke J: A human Y-chromosomal DNA sequence expressed in testicular tissue. Nucl Acids Res 15:8713–8724 (1987).
  2. Cooper KF: Analysis of the centromeric region of the human Y chromosome. D. Phil. thesis, Oxford University, Oxford (1992).
  3. Cooper DN, Krawczak M: Human Gene Mutation, p 219 (Bios Scientific Publishers, Oxford 1993).
  4. den Dunnen JT, Antonarakis SE: Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7–12 (2000).
  5. Foote S, Vollrath D, Hilton, A, Page DC: The human Y chromosome: overlapping DNA clones spanning the euchromatic region. Science 258:60–66 (1992).

    External Resources

  6. Jones MH, Khwaja OSA, Briggs H, Lambson B, Davey PM, Chalmers J, Zhou C-Y, Walker EM, Zhang Y, Todd C, Ferguson-Smith MA, Affara NA: A set of ninety-seven overlapping yeast artificial chromosome clones spanning the human Y chromosome euchromatin. Genomics 24:266–275 (1994).
  7. Jelesko JG, Harper R, Furuya M, Gruissem W: Rare germinal unequal crossing-over leading to recombinant gene formation and gene duplication in Arabidopsis thaliana. Proc natl Acad Sci, USA 96:10302–10307 (1999).
  8. Krawczak M, Cooper DN: Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum Genet 86:425–441 (1991).
  9. Lahn BT, Page DC: Functional coherence of the human Y chromosome. Science 278:675–680 (1997).
  10. Lau YF, Zhang J: Expression analysis of thirty one Y chromosome genes in human prostate cancer. Mol Carcinogen 27:308–321 (2000).
  11. Ma K, Inglis JD, Sharkey A, Bickmore WA, Hill RE, Prosser EJ, Speed RM, Thomson EJ, Jobling M, Taylor K, Wolfe J, Cooke HJ, Hargreave TB, Chandley AC: A Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. Cell 75:1287–1295 (1993).
  12. van den Maagdenberg AM, de Knijff P, Stalenhoeff AF, Gevers-Leuven JA, Haverkes LM, Frants RR: Apolipoprotein E3-Leiden allele results from a partial gene duplication in exon 4. Biochem biophys Res Comm 165:157–163 (1989).
  13. Manz E, Schnieders F, Müller Brechlin A, Schmidtke J: TSPY-related sequences represent a microheterogeneous gene family organized as constitutional elements in DYZ5 tandem repeat units on the human Y-chromosome. Genomics 17:726–731 (1993).
  14. Mathias N, Bayés M, Tyler-Smith C: Highly informative compound haplotypes for the human Y chromosome. Hum molec Genet 3:115–123 (1994).

    External Resources

  15. Mimault C, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O: Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain Dysmyelinating Disease. Am J hum Genet 65:360–369 (1999).
  16. Monaco AP, Müller U, Larin Z, Meier-Ewert S, Lehrach H: Isolation of the human sex determining region from a Y-enriched yeast artificial chromosome library. Genomics 11:1049–1053 (1991).

    External Resources

  17. Neil DL, Villasante A, Fisher RB, Vetrie D, Cox B, Tyler-Smith C: Structural instability of human tandemly repeated DNA sequences cloned in yeast artificial chromosome vectors. Nucl Acids Res 18:1421–1428 (1990).

    External Resources

  18. Oshima A, Yoshida K, Ishizaki A, Shimmoto M, Fukuhura Y, Sakuraba H, Suzuki Y: GM1-gangliosidosis: tandem duplication within exon 3 of β-galactosidase gene in an infantile patient. Clin Genet 41:235–238 (1992).

    External Resources

  19. Prosser J, Inglis JD, Condie A, Ma K, Kerr S, Thakrar R, Taylor K: Degeneracy in human multi-copy RBM: (YRRM), a candidate spermatogenesis gene. Mammal Genome 7:835–842 (1996).
  20. Ratti A, Stuppia L, Gatta V, Fogh I, Calabrese G, Pizzuti A, Palka G: Characterization of a new TSPY gene family member in Yq: (TSPYq1). Cytogenet Cell Genet 88:159–162 (2000).
  21. Santos FR, Pandya A, Tyler-Smith C: Reliability of DNA-based sex tests. Nature Genet 18:103 (1998).

    External Resources

  22. Schempp W, Binkele A, Arnemann J, Gläser B, Ma K, Taylor K, Toder R, Wolfe J, Chandley AC: Comparative mapping of YRRM- and TSPY-related cosmids in man and hominoid apes. Chrom Res 3:227–234 (1995).
  23. Schnieders F, Dörk T, Arnemann J, Vogel T, Werner M., Schmidtke J: Testis-specific protein, Y-encoded: (TSPY) expression in testicular tissues. Hum molec Genet 5:1801–1807 (1996).
  24. Tsuchiya K, Reijo R, Page DC, Disteche CM: Gonadoblastoma: molecular definition of the susceptibility region on the Y chromosome. Am J hum Genet 57:1400–1407 (1995).
  25. Tyler-Smith C, Taylor L, Müller U: Structure of a hypervariable tandemly repeated DNA sequence in the short arm of the human Y chromosome. J molec Biol 103:837–848 (1988).
  26. Vogel T, Schmidtke J: Structure and function of TSPY, the Y-chromosomal gene coding for the “testis-specific protein.” Cytogenet Cell Genet 80:209–213 (1998).
  27. Vogt PH, Affara N, Davey P, Hammer M, Jobling MA, Lau Y-FC, Mitchell M, Schempp W, Tyler-Smith C, Williams G, Yen P, Rappold GA: Report of the third international workshop on Y chromosome mapping 1997. Cytogenet Cell Genet 79:1–20 (1997).
  28. Williams G: Mapping studies of the centromeric region of the human Y chromosome. D. Phil. thesis, Oxford University, Oxford (1998).
  29. Zhang JS, Yang-Feng TL, Müller U, Mohandas TK, de Jong P, Lau Y-FC: Molecular isolation and characterization of an expressed gene from the human Y-chromosome. Hum molec Genet 1:717–726 (1992).


Pay-per-View Options
Direct payment This item at the regular price: USD 38.00
Payment from account With a Karger Pay-per-View account (down payment USD 150) you profit from a special rate for this and other single items.
This item at the discounted price: USD 26.50