Cytogenetic screening of livestock populations in Europe : An overview Alain Ducos, T. Revay, A. Kovacs, A. Hidas, Alain Pinton, Amélie Bonnet-Garnier, L. Molteni, E. Slota, M.V. Arruga, W.A. van Haeringen, et al. To cite this version: Alain Ducos, T. Revay, A. Kovacs, A. Hidas, Alain Pinton, et al.. Cytogenetic screening of livestock populations in Europe : An overview. Cytogenetic and Genome Research, Karger, 2008, 120, pp.26-41. 10.1159/000118738. hal-02665416 HAL Id: hal-02665416 https://hal.inrae.fr/hal-02665416 Submitted on 31 May 2020 HAL is a multi-disciplinary open access L’archive ouverte pluridisciplinaire HAL, est archive for the deposit and dissemination of sci- destinée au dépôt et à la diffusion de documents entific research documents, whether they are pub- scientifiques de niveau recherche, publiés ou non, lished or not. The documents may come from émanant des établissements d’enseignement et de teaching and research institutions in France or recherche français ou étrangers, des laboratoires abroad, or from public or private research centers. publics ou privés. Review Article Cytogenet Genome Res 120:26–41 (2008) DOI: 10.1159/000118738 Cytogenetic screening of livestock populations in Europe: an overview a b b b a a A. Ducos T. Revay A. Kovacs A. Hidas A. Pinton A. Bonnet-Garnier c d e f g L. Molteni E. Slota M. Switonski M.V. Arruga W.A. van Haeringen h i i j k I. Nicolae R. Chaves H. Guedes-Pinto M. Andersson L. Iannuzzi a INRA-ENVT, UMR 444 Génétique Cellulaire, Toulouse (France) b Research Institute for Animal Breeding and Nutrition, Herceghalom (Hungary) c University of Milan, Faculty of Agricultural Sciences, Institute for Animal Sciences, Milan (Italy) d National Research Institute of Animal Production, Immuno- and Cytogenetics Department, Krakow (Poland) e Agricultural University, Department of Genetics and Animal Breeding, Poznan (Poland) f Laboratory of Cytogenetics and Molecular Genetics, Veterinary Faculty, University of Zaragoza, Zaragoza (Spain) g Dr. Van Haeringen Laboratorium BV, Wageningen (The Netherlands) h Research-Development Institute for Bovine, Balotesti, Bucharest (Romania) i Institute for Biotechnology and Bioengineering (IBB), Centre of Genetics and Biotechnology of the University and Tras-os-Montes and Alta Douro (CGB-UTAD), Vila Real (Portugal) j University of Helsinki, Faculty of Veterinary Medicine, Department of Clinical Veterinary Sciences, Saarentaus (Finland ) k National Research Council, ISPAAM, Laboratory of Animal Cytogenetics and Gene Mapping, Naples (Italy ) Accepted in revised form for publication by M. Schmid, 6 November 2007. Abstract. Clinical animal cytogenetics development be- and 10,000 chromosomal analyses are carried out each year gan in the 1960’s, almost at the same time as human cytoge- worldwide, mainly in cattle, pigs, and horses. About half of netics. However, the development of the two disciplines has these analyses are performed in one French laboratory. Ac- been very different during the last four decades. Clinical an- curate estimates of the prevalence of chromosomal abnor- imal cytogenetics reached its ‘Golden Age’ at the end of the malities in some populations are now available. For instance, 1980’s. The majority of the laboratories, as well as the main one phenotypically normal pig in 200 controlled in France screening programs in farm animal species, presented in carries a structural chromosomal rearrangement. The fre- this review, were implemented during that period, under the quency of the widespread 1; 29 Robertsonian translocation guidance of some historical leaders, the first of whom was in cattle has greatly decreased in most countries, but re- Ingemar Gustavsson. Over the past 40 years, hundreds of mains rather high in certain breeds (up to 20–25% in large scientific publications reporting original chromosomal beef cattle populations, even higher in some local breeds). abnormalities generally associated with clinical disorders The continuation, and in some instances the development of (mainly fertility impairment) have been published. Since the the chromosomal screening programs in farm animal popu- 1980’s, the number of scientists involved in clinical animal lations allowed the implementation of new and original sci- cytogenetics has drastically decreased for different reasons entific projects, aimed at exploring some basic questions in and the activities in that field are now concentrated in only the fields of chromosome and/or cell biology, thanks to eas- a few laboratories (10 to 15, mainly in Europe), some of which ier access to interesting biological materials (germ cells, have become highly specialized. Currently between 8,000 gametes, embryos …). Copyright © 2008 S. Karger AG, Basel Request reprints from Alain Ducos The identification of various chromosomal rearrange- UMR INRA-ENVT 444 Génétique Cellulaire ments in livestock species in the 1960’s and 1970’s (e.g. Rob- Ecole Nationale Vétérinaire de Toulouse, 23, chemin des Capelles ertsonian translocations in cattle – Gustavsson and Rock- BP 87614, FR–31076 Toulouse cedex 3 (France) telephone: +33 5 61 19 32 75; fax: +33 5 61 19 39 24 born, 1964; Popescu, 1971; Stranzinger and Forster, 1976; e-mail : [email protected] reciprocal translocations in pigs – Henricson and Bäck- Fax +41 61 306 12 34 © 2008 S. Karger AG, Basel Accessible online at: E-Mail [email protected] 1424–8581/08/1202–0026$24.50/0 www.karger.com/cgr www.karger.com ström, 1964; Popescu and Legault, 1979) clearly associated study of their clinical consequences in farm animals) has with several clinical conditions such as intersexuality and been noticed. The reduction in the number of scientific congenital malformations as well as reproductive dysfunc- publications and doctoral theses in this field is one objective tion (reduction of the fertility/prolificacy of the carrier ani- indicator of this evolution. Several explanations can be pro- mals and/or of their mates – Gustavsson, 1969, 1971; Refs- posed. First, some groups initially involved in clinical ani- dal, 1976; Popescu et al., 1984) led to the establishment of mal cytogenetics were reorientated towards new scientific many animal cytogenetics laboratories particularly concen- objectives (e.g. towards genome mapping projects). On the trated in Europe. These laboratories were created almost other hand, the eradication of particular chromosomal re- exclusively within academic research institutions with a fo- arrangements in some populations made the continuation cus on basic research. Under the leadership of several pio- of the corresponding animal screening programs no longer neers (e.g. Ingemar Gustavsson in Sweden, Paul Popescu in justified. Finally, the retirement of some ‘historical leaders’ France, Gerald Stranzinger in Switzerland, Parvathi Basrur in our field and the dissolution of their laboratory groups in Canada, and many other prominent researchers world- also contributed to the decline. Currently, the number of wide), the field of domestic animal cytogenetics grew rap- countries in which significant clinical animal cytogenetics idly during this period. The adaptation of some specialized activities are carried out is very limited (less than ten). Most chromosome staining techniques developed in human cy- are located in Europe. Nonetheless, new initiatives adopted togenetics laboratories (e.g. banding techniques – Seabright, by several breeding and artificial insemination companies 1971; Dutrillaux et al., 1973) allowed rapid progresses in the (e.g. in pigs, some companies are now interested in system- acquisition of knowledge of the chromosomes of several an- atically analyzing all purebred boars at the selection level, imal species. An international study group with the man- instead of only hypoprolific boars at the production level) date of standardizing the karyotypes of most farm animal as well as the improvement of the techniques used in the species (including cattle, sheep, goats, pigs, horses, rabbits, laboratories (use of new software allowing semi-automatic swine and cats) was created in 1976 during the Reading karyotyping, and therefore a dramatic augmentation in the Conference (Ford et al., 1980). The Reading standard formed productivity of the labs) has generated a very significant in- the basis for all subsequent nomenclature reports (e.g. Gus- crease in the number of analyses carried out in some labo- tavsson, 1988; ISCNDA1989, 1990; Iannuzzi, 1996; Popescu ratories. This was clearly the case in France. In pigs for in- et al., 1996; Bowling et al., 1997; Ansari et al., 1999), al- stance, as illustrated below, the annual number of analyses though some discrepancies in bovid nomenclatures were carried out increased 20-fold in only 15 years, and the num- identified and, for the most part, solved when both Q/G and ber of original chromosomal rearrangements identified in R-banding techniques were combined with molecular this species during the 1996–2007 period in only one labo- markers (FISH) (Hayes et al., 2000). These preliminary ratory alone is larger than the total number of rearrange- karyotypes served as the basis for the construction of the ments published worldwide during the previous 30 years. most recent nomenclature of bovids (ISCNDB 2000, 2001) The development of the few remaining laboratories allowed where cattle, sheep and goat autosomes were reported using us to reaffirm the interest of ‘clinical cytogenetics’ in farm one common chromosome nomenclature. animal species, and opens new scientific opportunities in The