Skip to main content
SpringerLink
Log in

Characterization of a new aberration of the human Y chromosome by banding methods and DNA restriction endonuclease analysis

  • Original Investigations
  • Published:
Human Genetics Aims and scope Submit manuscript

Summary

Comparative cytogenetic analyses were performed with ten different banding methods on a previously undescribed, inherited structural aberration of a Y chromosome, and the results compared with those of normal Y chromosomes occurring in the same family. The value of the individual staining techniques in investigations of Y chromosomal aberrations is emphasized. The aberrant Y chromosome analyzed can be formally derived from an isodicentric Y chromosome for the short arm with a very terminal long-arm breakpoint, in which the centromere, an entire short arm, and the proximal region on one long arm was lost. This interpretation was confirmed by determining the amount of the two Y-specific DNA sequences (2.1 and 3.4 kb in length) by means of HaeIII restriction endonuclease analysis. The karyotype-phenotype correlations in the men with this aberrant Y chromosome, especially the fertility dysfunctions (oligoasthenoteratozoospermia, cryptozoospermia), are discussed. The possibility of the existence of fertility factors involved in the control of spermatogenesis within the quinacrine-bright heterochromatic region of the Y long arm is presented.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Bobrow M, Pearson PL, Pike ML, El-Alfi OS (1971) Length variation in the quinacrine-binding segment of human Y chromosomes of different sizes. Cytogenet Cell Genet 10:190–198

    Article  CAS  Google Scholar 

  • Boczkowski K (1971) Sex determination and gonadal differentiation in man. A unifying concept of normal and abnormal sex development. Clin Genet 2:379–386

    Article  CAS  PubMed  Google Scholar 

  • Bühler EM (1980) A synopsis of the human Y chromosome. Hum Genet 55:145–175

    Article  PubMed  Google Scholar 

  • Caspersson T, Zech L, Johannsson C, Modest EJ (1970) Identification of human chromosomes by DNA-binding fluorescent agents. Chromosoma 30:215–227

    Article  CAS  PubMed  Google Scholar 

  • Cavalier-Smith T (1974) Palindromic base sequences and replication of eukaryote chromosome ends. Nature 250:467–470

    Article  CAS  PubMed  Google Scholar 

  • Church RB, Ryskov AP, Georgiev GP (1974) Structure of nuclear premRNA. VI. “Reverse repeats” in animal DNA and their hybridization with double-stranded regions of pre-mRNA. Mol Biologiya 8: 503–509

    Google Scholar 

  • Daniel A, Lyons N, Casey JH, Gras L (1980) Two dicentric Y isochromosomes, one without the Yqh heterochromatic segment. Hum Genet 54:31–39

    Article  CAS  PubMed  Google Scholar 

  • Epplen JT, Siebers JW, Vogel W (1975) DNA replication patterns of human chromosomes from fibroblasts and amniotic fluid cells revealed by a Giemsa staining technique. Cytogenet Cell Genet 15: 177–185

    Article  CAS  PubMed  Google Scholar 

  • Genest P (1978) Propos sur un chromosome Y à satellites. Ann Genet (Paris) 21:237–238

    CAS  Google Scholar 

  • Giraud F, Mattei JF, Lucas C, Mattei MG (1977) Four new cases of dicentric Y chromosomes. Hum Genet 36:249–260

    Article  CAS  PubMed  Google Scholar 

  • Goodpasture C, Bloom SE (1975) Visualization of nucleolar organizer regions in mammalian chromosomes using silver staining. Chromosoma 53:37–50

    Article  CAS  PubMed  Google Scholar 

  • Hamerton JL, Canning N, Ray M, Smith S (1975) A cytogenetic survey of 14 069 newborn infants. I. Incidence of chromosome abnormalities. Clin Genet 8:223–243

    Article  CAS  PubMed  Google Scholar 

  • Howell WM, Denton TE (1976) Negative silver staining in A-T and satellite DNA-rich regions of human chromosomes. Chromosoma 57:165–169

    Article  CAS  PubMed  Google Scholar 

  • Jalal SM, Markvong A, Hsu TC (1975) Differential chromosomal fluorescence with 33258 Hoechst. Exp Cell Res 90:443–444

    Article  CAS  PubMed  Google Scholar 

  • Jorgenson KF, van de Sande JH, Lin CC (1978) The use of base pair specific DNA binding agents as affinity labels for the study of mammalian chromosomes. Chromosoma 68:287–302

    Article  CAS  PubMed  Google Scholar 

  • Kirby KS (1968) Isolation of nucleic acids with phenolic solvents. In: Grossman L, Moldave K (eds) Methods in enzymology, Vol 12 B. Academic Press, New York, pp 87–112

    Google Scholar 

  • Latt SA, Davidson RL, Lin MS, Gerald PS (1974) Lateral asymmetry in the fluorescence of human Y chromosomes stained with 33258 Hoechst. Cytogenet Cell Genet 87:425–429

    CAS  Google Scholar 

  • Madan K, Gooren L, Schoemaker J (1979) Three cases of sex chromosome mosaicism with a nonfluorescent Y. Hum Genet 46:295–304

    Article  CAS  PubMed  Google Scholar 

  • McKay RDG, Heritage J, Bobrow M, Cooke HJ (1978) Endonuclease analysis of Y chromosome DNA. Cytogenet Cell Genet 22:357–358

    Article  CAS  PubMed  Google Scholar 

  • Morillo-Cucci G, German J (1971) Abnormal Y chromosome and monosomy 45,X: a concept derived from the study of three patients. Birth Defects 7:210–214

    CAS  PubMed  Google Scholar 

  • Narahara K, Yabuuchi H, Kimura S, Kimoto H (1978) A case of a reciprocal translocation between the Y and No.1 chromosomes. Jpn J Hum Genet 23:225–231

    Article  CAS  Google Scholar 

  • Neu RL, Barlow MJ, Gardner LI (1973) A46,XYq-male with aspermia. Fertil Steril 24:811–813

    Article  CAS  PubMed  Google Scholar 

  • Overton KM, Magenis RE, Brady T, Chamberlin J, Parks M (1976) Cytogenetic darkroom magic: now you see them, now you don't. Am J Hum Genet 28:417–419

    CAS  PubMed  PubMed Central  Google Scholar 

  • Paris Conference (1971) Standardization in human cytogenetics. Birth Defects, Vol 8, No 7. The National Foundation 1972, New York

  • Pfeiffer RA (1974) Cell cultures from blood and bone marrow. In: Schwarzacher HG, Wolf U (eds) Methods in human cytogenetics. Springer, Berlin Heidelberg New York

    Google Scholar 

  • Prantera G, Pimpinelli S, Rocchi A (1979) Effects of distamycin A on human leukocytes in vitro. Cytogenet Cell Genet 23:103–107

    Article  CAS  PubMed  Google Scholar 

  • Raposa T, Natarajan AT (1974) Fluorescence banding pattern of human and mouse chromosomes with a benzimidazole derivative (Hoechst 33258). Hum Genet 21:221–226

    Article  CAS  Google Scholar 

  • Schmid CW, Manning JE, Davidson N (1975) Inverted repeat sequences in the Drosophila genome. Cell 5:159–172

    Article  CAS  PubMed  Google Scholar 

  • Schmid M (1979) Demonstration of Y/autosomal translocations using distamycin A. Hum Genet 53:107–109

    Article  CAS  PubMed  Google Scholar 

  • Schmidtke J, Schmid M (1980) Regional assignment of a 2.1-kb repetitive sequence to the distal part of the human Y heterochromatin. Hum Genet 55:255–257

    Article  CAS  PubMed  Google Scholar 

  • Schnedl W (1973) Analysis of the human karyotypes by the recent banding techniques. Arch Genet (Zur) 46:65–98

    CAS  Google Scholar 

  • Schweizer D, Ambros P, Andrle M (1978) Modification of DAPI banding on human chromosomes by prestaining with a DNA binding oligopeptide antibiotic, distamycin A. Exp Cell Res 111: 327–332

    Article  CAS  PubMed  Google Scholar 

  • Siebers JW, Vogel W, Hepp H, Bolze H, Dittrich A (1973) Structural aberrations of the Y chromosome and the corresponding phenotype. Hum Genet 19:57–66

    Article  CAS  Google Scholar 

  • Smith A, Fraser IS, Elliot G (1979) An infertile male with balanced Y;19 translocation. Review of Y; autosome translocations. Ann Genet (Paris) 22:189–194

    CAS  Google Scholar 

  • Sofuni T, Tanabe K, Naruto J, Awa AA (1975) A new type of inversion of a human Y chromosome. Hum Genet 30:91–97

    Article  CAS  Google Scholar 

  • Spowart G (1979) Reassessment of presumed Y/22 and Y/15 translocations in man using a new technique. Cytogenet Cell Genet 23: 90–94

    Article  CAS  PubMed  Google Scholar 

  • Steinbach P, Fabry H, Scholz W (1979) Unstable ring Y chromosome in an aspermic male. Hum Genet 47:227–231

    Article  CAS  PubMed  Google Scholar 

  • Sumner AT (1972) A simple technique for demonstrating centromeric heterochromatin. Exp Cell Res 75:304–306

    Article  CAS  PubMed  Google Scholar 

  • Szabo P, Kunkel L, Yu LC, George D, Smith KK (1980) Chromosomal distribution of DNA sequences derived from the human Y chromosome in human higher primates. Cytogenet Cell Genet 25:212–213

    Google Scholar 

  • Taylor KM, Francke U, Brown MG, George DL, Kaufhold M (1977) Inverted tandem (“mirror”) duplications in human chromosomes: inv dup 8p, 4q, 22q. Am J Med Genet 1:3–19

    Article  CAS  PubMed  Google Scholar 

  • Thomas CA, Pyeritz RE, Wilson DA, Dancis BM, Lee CS, Bick MD, Huang HL, Zimm BH (1973) Cyclodromes and palindromes in chromosomes. Cold Spring Harbor Symp Quant Biol 38:353–370

    Article  Google Scholar 

  • Tiepolo L, Zuffardi O (1976) Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet 34:119–124

    Article  CAS  PubMed  Google Scholar 

  • Turleau C, Chavin-Colin F, Seger J, Sorin M, Salet D, de Grouchy J (1978) Chromosome Y avec satellite (Yqs) et organisateur nucléolaire survenu de novo. Ann Genet (Paris) 21:239–242

    CAS  Google Scholar 

  • Verma RS, Lubs HA (1975) A simple R banding technic. Am J Hum Genet 27:110–117

    CAS  PubMed  PubMed Central  Google Scholar 

  • Weisblum B, de Haseth PL (1972) Quinacrine, a chromosome stain specific for deoxyadenylate-deoxythymidilate-rich regions in DNA. Proc Natl Acad Sci 69:629–632

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • White MJD (1973) Animal cytology and evolution, 3rd ed. Cambridge University Press, London

    Google Scholar 

  • Wilson DA, Thomas CA (1974) Palindromes in chromosomes. J Molec Biol 84:115–144

    Article  CAS  PubMed  Google Scholar 

  • Yunis E, García-Conti FL, Torres de Caballero OM, Giraldo A (1977) Yq deletion, aspermia, and short stature. Hum Genet 39:117–122

    Article  CAS  PubMed  Google Scholar 

  • Zeuthen E, Nielsen J (1973) Pericentric Y inversion in the general population. Hum Genet 19:265–270

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Abteilung Humangenetik, University of Ulm, Ulm, Germany

    M. Schmid & W. Schempp

  2. Institut für Humangenetik, University of Göttingen, Gottingen, Germany

    M. Schmid, W. Schempp & J. Schmidtke

  3. Dermatologische Abteilung, Bundeswehrkrankenhaus Ulm, Ulm, Germany

    H. Gall & L. Weber

Authors
  1. M. Schmid
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. H. Gall
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. W. Schempp
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. L. Weber
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. J. Schmidtke
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Schmid, M., Gall, H., Schempp, W. et al. Characterization of a new aberration of the human Y chromosome by banding methods and DNA restriction endonuclease analysis. Hum Genet 59, 26–35 (1981). https://doi.org/10.1007/BF00278850

Download citation

  • Received:

  • Revised:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00278850

Keywords

Search

Navigation