United States Environmental Protection Agency Office of Health and Environmental Assessment Washington DC 20460 Research and Development EPA/600/S8-86/006 Apr. 1986 Project Summary Aneuploidy Test Development: Kinetochore Staining in Mammalian Systems Raymond R. Tice and Vicki L Dellarco The purpose of this project was to determine the feasibility of using human-derived antibodies against the chromosomal kinetochore region cou- pled with immunof luorescence staining as a method for evaluating the induction of aneuploidy in mammalian cells in vitro and in vivo. This technique was applied to (1) Chinese hamster cells (V79 cells), human fibroblasts, and peripheral lymphocytes interphase cells in vitro; (2) mouse bone marrow cells in vivo; and (3) mature human and rat sperm. Although kinetochore staining can be accomplished on a routine basis on mammalian interphase in vitro and in vivo cells, the technique does not appear to offer the staining intensity and/or persistence to allow for an accurate enumeration of the total genomic com- plement of a Chinese hamster, mouse or human cell. It was found that kineto- chore structures are not visible in nature before or after techniques to cause sperm head enlargement. Kinetochore structures can, most likely, be detected in micronuclei. This Project Summary was developed by EPA's Office of Health and Environ- mental Assessment. Washington, DC. to announce key findings of the research project that is fully documented in a separate report of the same title (see Project Report ordering information at back). The ability of chemicals to induce chromosomal malsegregation during cy- tokinesis in mammalian cells constitutes a serious human health hazard (Dellarco et al., 1985). Numerical chromosomal anomalies (i.e., aneuploidy, the loss or gain of one or more whole chromosomes from the chromosomal complement of a somatic or germ cell) are the major cause of early gestational spontaneous abor- tions in humans (Hook, 1986). In addition, there is increasing evidence that aneu- ploidy in somatic cells may play a role in the etiology of carcinogenesis (Barrett et al., 1986). While short-term tests for the detection of aneuploidy-inducing agents exist, few approaches using mammalian cells in culture, or more importantly, in the intact mammal, are available. The majority of mammalian assays involve direct cytogenetic analysis of the chro- mosomal complement of metaphase cells. The validity of this approach is frequently confounded by technical artifacts associ- ated with the loss and, to a lesser extent, the gain of isolated chromosomes during slide preparation. Thus, there is a need for additional mammalian cell oriented tests, especially those that are reliable, sensitive, and cost-effective. The recent availability of human- derived antibodies against the chromo- somal kinetochore region, as described by Brenner et al. (1981), coupled with the use of immunofluorescence staining tech- niques, suggests another approach for evaluating the induction of aneuploidy cells in vitro and in vivo. The purpose of this project was to determine the feasi- bility of using the kinetochore antibody staining technique as developed by B. R. Brinkley (Baylor Medical College, Hous- ton, TX) (personal communication) to enumerate the number of chromosomes in (1) mammalian interphase somatic cells in vitro, (2) mammalian interphase cells in vivo, (3) mature sperm, and (4) micronuclei in vitro and in vivo. ------- It was found that kinetochore staining can be accomplished on a routine basis on mammalian interphase cells obtained from in vitro and in vivo material. How- ever, the current FITC-dependent immu- nofluorescence technique does not appear to offer the staining intensity and/or persistence to allow for an accurate enumeration of the total genomic complement of a Chinese hamster, mouse, or human cell. This is primarily due to the three-dimensional structure of the interphase nucleus on the coverslips. Suggested future directions for further research in this area include: (i) the use of Indian Muntjac cells (n = 5,6); (ii) technical manipulations to diminish cell thickness; and (iii) other staining techniques (e.g., immunoperoxidase, biotynilation). The present experimentation showed that mammalian interphase somatic cells from in vivo tissues can be examined for kinetochores. However, if the cells are not grown on coverslips, additional tech- nical manipulations are required such as the use of poly-L-lysine coated coverslips to increase cell adhesion (Rajendra et al., 1980). The exact conditions under which the cells are attached (type of fixative, etc.) are cell-type-specific and require additional experimental analyzing to op- timize conditions. Kinetochore structures are not visible in mature sperm that are either untreated or increased in size by various manipula- tions to break down sulfhydryl bonds. Whether the absence of staining results from an antigenic difference in the kin- etochore in mature sperm or a technical artifact remains to be elucidated. Kinetochore structures can, most likely, be detected in micronuclei, suggesting an extremely important role for this assay system in identifying aneuploidy-inducing agents that do not destroy the ki netochore (antigenically speaking). Methods have been developed for making smears of mouse peripheral blood for use in the kinetochore staining technique. However, the absence of large numbers of micro- nucleated cells will probably limit the usefulness of this approach. Collection of micronuclei by cell sorting or differential centrifugation after destruction of eryth- rocytes, may provide a method for col- lecting appropriate quantities of micro- nuclei for use in kinetochore evaluation. It is suggested that these observations on kinetochore counting in interphase cells indicate the necessity of other technical developments and the initial observations on kinetochore staining in micronuclei suggest a possible research tool for the future. References Barrett, J. C., Oshimura, M., Tanaka, N., and Tsutsui, T. (1986). Role of aneu- ploidy in early stages of neoplastic progression of Syrian hamster embryo cells in culture. In: Dellarco, V. L, Voytek, P. E., and Hollaender, A. (eds.). Proceedings of symposium on aneu- ploidy: Mechanisms and etiology. Plenum, New York (in press). Brenner, S., Pepper, D., Berns, M. W., t Tan, E., and Brinkley, B. R. (1981). " Kinetochore structure, duplication, and distribution in mammalian cells: Anal- ysis by human autoantibodies from scleroderma patients. J. Cell. Biol. 91:95-102. Dellarco, V. L, Mavournin, K. H., and Tice, R. R. (1985). Aneuploidy and health risk assessment: Current status and future directions. Environ. Mutagen. 7:405- 424. Hook, E. B. (1986). The impact of aneu- ploidy upon public health: Mortality and morbidity associated with human chro- mosome abnormalities. In: Dellarco, V. L, Voytek, P. E., and Hollaender, A. (eds.). Proceedings of symposium on aneuploidy: Mechanisms and etiology. Plenum, New York (in press). Rajendra B. R., Sciorra, L. A., and Lee, M. (1980). A new and simple technique for chromosomal preparations from peri- pheral-blood lymphocytes, amniotic cell-cultures, skin fibroblasts, bone- marrow and single cell clones when the yields from harvests are low. Hum. Genet. 55:363-366. Raymond R. Tice is with Brookhaven National Laboratory, Upton, NY 11973; and the EPA author Vicki L. Dellarco (also the EPA Project Officer, see below) is with the Office of Health and Environmental Assessment, Washington, DC 20460. The complete report, entitled "Aneuploidy Test Development: Kinetochore Staining in Mammalian Systems," (Order No. PB 86-163 334/AS; Cost: $9.95, subject to change) will be available only from: National Technical Information Service 5285 Port Royal Road Springfield, VA 22161 Telephone: 703-487-4650 The EPA Project Officer can be contacted at: Office of Health and Environmental Assessment U.S. Environmental Protection Agency Washington. DC 20460 United States Environmental Protection Agency Center for Environmental Research Information Cincinnati OH 45268 «'• -*• j/iw ! Official Business Penalty for Private Use $300 EPA/600/S8-86/006 OC003?9 PS 'SENCr ------- |