In 1964, Gustavsson and Rockborn first described the 1/29 Robertsonian translocation in cattle. Since then, several studies have demonstrated the negative effect of this particular chromosomal rearrangement on the fertility of carrier animals. During the last decade, meiotic segregation patterns have been studied on human males carrying balanced translocations using FISH on decondensed sperm nuclei. In this work, we have applied the ‘Sperm-FISH’ technique to determine the chromosomal content of spermatozoa from two bulls heterozygous for the 1/29 translocation and one normal bull (control). 5425 and 2702 sperm nuclei were scored, respectively, for the two heterozygous bulls, using whole chromosome painting probes of chromosomes 1 and 29. Very similar proportions of normal (or balanced) spermatozoa resulting from alternate segregation were observed (97.42% and 96.78%). For both heterozygous bulls, the proportions of nullisomic and disomic spermatozoa did not follow the theoretical 1:1 ratio. Indeed, proportions of nullisomic spermatozoa were higher than those of disomic sperma tozoa (1.40% vs 0.09% (bull 1) and 1.29% vs 0.15% (bull 2) for BTA1, and 0.65% vs 0.40% (bull 1) and 1.11% vs 0.63% (bull 2) for BTA29). The average frequencies of disomic and diploid spermatozoa in the normal bull were 0.11% and 0.05%, respectively.

1.
Anahory T, Hamamah S, Andreo B, Hedon B, Claustres M, Sarda P, Pellestor F: Sperm segregation analysis of a (13;22) Robertsonian translocation carrier by FISH: a comparison of locus-specific probe and whole chromosome painting. Hum Reprod 20:1850–1854 (2005).
2.
Anton E, Blanco J, Egozcue J, Vidal F: Sperm FISH studies in seven male carriers of Robertsonian translocation t(13;14)(q10;q10). Hum Reprod 19:1345–1351 (2004).
3.
Armstrong SJ, Goldman AS, Speed RM, Hulten MA: Meiotic studies of a human male carrier of the common translocation, t(11;22), suggests postzygotic selection rather than preferential 3:1 MI segregation as the cause of liveborn offspring with an unbalanced translocation. Am J Hum Genet 67:601–609 (2000).
4.
Berger R: Cytogénétique humaine, in Feingold J, Fellous M, Solignac M (eds): Principes de Génétique Humaine, pp 33–58 (Hermann, Paris 1998).
5.
Dagnelie P: Théorie et Méthodes Statistiques, Applications Agronomiques. 2nd edition (Les Presses Agronomiques de Gembloux, Gembloux 1975).
6.
Di Berardino D, Vozdova M, Kubickova S, Cernohorska H, Coppola G, Coppola G, Enne G, Rubes J: Sexing river buffalo (Bubalus bubalis L.), sheep (Ovis aries L.), goat (Capra hircus L.), and cattle spermatozoa by double color FISH using bovine (Bos taurus L.) X- and Y-painting probes. Mol Reprod Dev 67:108–115 (2004).
7.
Dyrendahl I, Gustavsson I: Sexual functions, semen characteristics and fertility of bulls carrying the 1/29 chromosome translocation. Hereditas 90:281–289 (1979).
8.
Egozcue S, Blanco J, Vendrell JM, Garcia F, Veiga A, Aran B, Barri PN, Vidal F, Egozcue J: Human male infertility: chromosome anomalies, meiotic disorders, abnormal spermatozoa and recurrent abortion. Hum Reprod Update 6:93–105 (2000).
9.
Egozcue J, Blanco J, Anton E, Egozcue S, Sarrate Z, Vidal F: Genetic analysis of sperm and implications of severe male infertility – a review. Placenta 24:S62–65 (2003).
10.
Escudero T, Lee M, Carrel D, Blanco J, Munne S: Analysis of chromosome abnormalities in sperm and embryos from two 45,XY,t(13;14)(q10;q10) carriers. Prenat Diagn 20:599–602 (2000).
11.
Foulley JL, Frebling J: La translocation 1/29 chez les bovines: distribution, effets, procédure d’éradication. Bull Tech CRZV Theix, INRA 62:93–102 (1985).
12.
Fries R, Popescu P: Cytogenetics and physical chromosome maps, in Fries R, Ruvinsky A (eds): The Genetics of Cattle (CAB International, New York 1999).
13.
Frydman N, Romana S, Le Lorc’h M, Vekemanns M, Frydman R, Tachdjian G: Assisting reproduction of infertile men carrying a Robertsonian translocation. Hum Reprod 16:2274–2277 (2001).
14.
Gropp A, Winking H: Robertsonian translocations: cytology, meiosis, segregation patterns and biological consequences of heterozygosity. Symp Zool Soc Lond 47:141–181 (1981).
15.
Gustavsson I: Cytogenetics, distribution and phenotypic effects of a translocation in Swedish cattle. Hereditas 63:68–169 (1969).
16.
Gustavsson I: Chromosomes of repeat-breeder heifers. Hereditas 68:331–332 (1971).
17.
Gustavsson I: Distribution and effects of the 1/29 Robertsonian translocation in cattle. J Dairy Sci 62:825–835 (1979).
18.
Gustavsson I, Rockborn G: Chromosome abnormality in three cases of lymphatic leukaemia in cattle. Nature Lond 203:990 (1964).
19.
Hanada H, Geshi M, Suzuki O: Chromosome analyses of spermatozoa and embryos derived from bulls carrying the 7/21 Robertsonian translocation. Amin Sci Technol 66:909–913 (1995).
20.
Hassanane M, Kovacs A, Laurent P, Lindblad K, Gustavsson I: Simultaneous detection of X- and Y-bearing bull spermatozoa by double colour fluorescence in situ hybridization. Mol Reprod Dev 53:407–412 (1999).
21.
Honda H, Miharu N, Samura O, He H, Ohama K: Meiotic segregation analysis of a 14;21 Robertsonian translocation carrier by fluorescence in situ hybridization. Hum Genet 106:188–193 (2000).
22.
Iannuzzi L, Molteni L, Di Meo GP, De Giovanni A, Perucatti A, Succi G, Incarnato D, Eggen A, Cribiu EP: A case of azoospermia in a bull carrying a Y-autosome reciprocal translocation. Cytogenet Cell Genet 95:225–227 (2001).
23.
Kawarasaki T, Welch GR, Long CR, Yoshida M, Johnson LA: Verification of flow cytometrically-sorted X- and Y-bearing porcine spermatozoa and reanalysis of spermatozoa for DNA content using the fluorescence in situ hybridization (FISH) technique. Theriogenology 50:625–635 (1998).
24.
King WA: Chromosome abnormalities and pregnancy failure in domestic animals, in Mc Feely RA (ed): Domestic Animals Cytogenetics, Advances in Veterinary Science and Comparative Medicine, vol 34, pp 41–71 (Academic Press, San Diego 1990).
25.
King WA, Linares T, Gustavsson I, Bane A: Presumptive translocation type trisomy embryos sired by bulls heterozygous for the 1/29 translocation. Hereditas 92:167–169 (1980).
26.
King WA, Linares T, Gustavsson I: Cytogenetics of preimplantation embryos sired by bulls heterozygous for the 1/29 translocation. Hereditas 94:219–224 (1981).
27.
Logue DN, Harvey MJ: Meiosis and spermatogenesis in bulls heterozygous for a presumptive 1/29 Robertsonian translocation. J Reprod Fert 54:159–165 (1978).
28.
Lonergan P, Kommisrud E, Andersen O, Refsdal AO, Farstad W: Use of semen from a bull heterozygous for the 1/29 translocation in an IVF program. Theriogenology 41:1379–1384 (1994).
29.
Martin RH: Cytogenetic analysis of sperm from a male heterozygous for a 13;14 Robertsonian translocation. Hum Genet 80:357–361 (1988).
30.
Morel F, Roux C, Bresson JL: FISH analysis of the chromosomal status of spermatozoa from three men with 45,XY,der(13;14)(q10;q10) karyotype. Mol Hum Reprod 7:376–381 (2001).
31.
Morel F, Douet-Guilbert N, Le Bris MJ, Herry A, Amice V, Amice J, De Braekeleer M: Meiotic segregation of translocations during male gametogenesis. Int J Androl 27:200–212 (2004).
32.
Munne S, Escudero T, Sandalinas M, Sable D, Cohen J: Gamete segregation in female carriers of Robertsonian translocations. Cytogenet Cell Genet 90:303–308 (2000).
33.
Oliver-Bonet M, Benet J, Sun F, Navarro J, Abad C, Liehr T, Starke H, Greene C, Ko E, Martin RH: Meiotic studies in two human reciprocal translocations and their association with spermatogenic failure. Hum Reprod 20:683–688 (2005).
34.
Pellestor F: Analysis of meiotic segregation in a man heterozygous for a 13;15 Robertsonian translocation and a review of the literature. Hum Genet 85:49–54 (1990).
35.
Pellestor F, Sele B, Jalabert H: Chromosome analysis of spermatozoa from a male heterozygous for a 13;14 Robertsonian translocation. Hum Genet 76:116–120 (1987).
36.
Pieterse MC, Kappen KA, Kruip Th AM, Taverne MAM: Aspiration of bovine oocytes during transvaginal ultrasound scanning of the ovaries. Theriogenology 30:751–762 (1988).
37.
Pinton A, Ducos A, Berland HM, Seguela A, Blanc MF, Darre A, Mimar S, Darre R: A new Robertsonian translocation in Holstein-Friesian cattle. Genet Sel Evol 29:523–526 (1997).
38.
Pinton A, Ducos A, Yerle M: Estimation of the proportion of genetically unbalanced spermatozoa in the semen of boars carrying chromosomal rearrangements using FISH on sperm nuclei. Genet Sel Evol 36:123–137 (2004).
39.
Piumi F, Vaiman D, Cribiu EP, Guerin B, Humblot P: Specific cytogenetic labeling of bovine spermatozoa bearing X or Y chromosomes using fluorescent in situ hybridization (FISH). Genet Sel Evol 33:89–98 (2001).
40.
Popescu CP: A study of meiotic chromosomes in bulls carrying the 1/29 translocation. Ann Biol Anim Bioch Biophys 18:383–389 (1978).
41.
Popescu CP: Cytogenetic study on embryos sired by a bull carrier of 1/29 translocation. Proc 4th Eur Colloq Cytogenet Domest Anim, pp 182–186 (1980).
42.
Rangel-Figueiredo T, Iannuzzi L: Frequency and distribution of rob (1;29) in three Portuguese cattle breeds. Hereditas 119:233–237 (1993).
43.
Refsdal AO: Low fertility in daughters of bulls with 1/29 translocation. Acta Vet Scand 17:190–195 (1976).
44.
Rousseaux S, Chevret E, Monteil M, Cozzi J, Pelletier R, Delafontaine D, Sele B: Sperm nuclei analysis of a Robertsonian t(14q21q) carrier, by FISH, using three plasmids and two YAC probes. Hum Genet 96:655–660 (1995).
45.
Rubes J, Vozdova M, Kubickova S: Aneuploidy in pig sperm: multicolor fluorescence in situ hybridization using probes for chromosomes 1, 10, and Y. Cytogenet Cell Genet 85:200–204 (1999).
46.
Schmutz SM, Moker JS, Barth AD, Mapletorft RJ: Embryonic loss in superovulated cattle caused by the 1;29 Robertsonian translocation. Theriogenology 35:705–714 (1991).
47.
Sun F, Oliver-Bonet M, Turek PJ, Ko E, Martin RH: Meiotic studies in an azoospermic human translocation (Y;1) carrier. Mol Hum Reprod 11:361–364 (2005).
48.
Switonski M, Gustavsson I, Ploen L: The nature of the 1;29 translocation in cattle as revealed by synaptonemal complex analysis using electron microscopy. Cytogenet Cell Genet 44:103–111 (1987).
49.
Syme RM, Martin RH: Meiotic segregation of a 21;22 Robertsonian translocation. Hum Reprod 7:825–829 (1992).
50.
Tateno H, Miyake YI, Mori H, Kamiguchi Y, Mikamo K: Sperm chromosome study of two bulls heterozygous for different Robertsonian translocations. Hereditas 120:7–11 (1994).
51.
Van Hummelen P, Manchester D, Lowe X, Wyrobek AJ: Meiotic segregation, recombination, and gamete aneuploidy assessed in a t(1;10)(p22.1; q22.3) reciprocal translocation carrier by three- and four-probe multicolor FISH in sperm. Am J Hum Genet 61:651–659 (1997).
52.
Vidal F, Templado C, Navarro J, Marina S, Egozcue J: Meiotic and synaptonemal complex studies in a 14/21 translocation carrier. Int J Androl 5:21–26 (1982).
53.
Wilson TD: Monosomy and trisomy in bovine embryos sired by bulls heterozygous for the 1/29 Robertsonian translocation chromosome. Theriogenology 36:789–794 (1991).
54.
Winking H, Reuter C, Bostelmann H: Unequal nondisjunction frequencies of trivalent chromosomes in male mice heterozygous for two Robertsonian translocations. Cytogenet Cell Genet 91:303–306 (2000).
55.
Yerle M, Goureau A, Gellin J, Le Tissier P, Moran C: Rapid mapping of cosmid clones on pig chromosomes by fluorescence in situ hybridization. Mamm Genome 5:34-37 (1994).
© 2006 S. Karger AG, Basel
2006
Copyright / Drug Dosage / Disclaimer
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.
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 government 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.
You do not currently have access to this content.