History and evolution of cytogenetics

Abstract

The events that have led to the development of cytogenetics as a specialty within the life sciences are described, with special attention to the early history of human cytogenetics. Improvements in the resolution of chromosome analysis has followed closely the introduction of innovative technology. The review provides a brief account of the structure of somatic and meiotic chromosomes, stressing the high conservation of structure in plants and animals, with emphasis on aspects that require further research. The future of molecular cytogenetics is likely to depend on a better knowledge of chromosome structure and function.

Figure 1

Electron micrograph of part of a synaptinemal complex in a pachytene bivalent from Neottiella rutilans (from Westergaard and von Wettstein [20]).

Figure 2

Pachytene stage in a human spermatocyte in which the synaptinemal complexes are revealed by red immunofluorescence using antibodies to the protein SYCP3. Recombination nodes are indicated by yellow fluorescence with antibodies to MLH1 (from Sciurano et al. [23]).

Figure 3

DNA fibre-FISH showing exon-specific cosmid probes hybridised to the five exons of the DMRT1 gene. The order of exons is confirmed by the DMRT1 sequence from the human genome database in which distances are indicated by numbers of base pairs. (Unpublished image courtesy of Dr Fumio Kasai).