Abstract

In 1962, Thomas Kuhn famously argued that the progress of scientific knowledge results from periodic ‘paradigm shifts’ during a period of crisis in which new ideas dramatically change the status quo. Although this is generally true, Alec Jeffreys’ identification of hypervariable repeat motifs in the human beta-globin gene, and the subsequent development of a technology known now as ‘DNA fingerprinting’, also resulted in a dramatic shift in the life sciences, particularly in ecology, evolutionary biology, and forensics. The variation Jeffreys recognized has been used to identify individuals from tissue samples of not just humans, but also of many animal species. In addition, the technology has been used to determine the sex of individuals, as well as paternity/maternity and close kinship. We review a broad range of such studies involving a wide diversity of animal species. For individual researchers, Jeffreys’ invention resulted in many ecologists and evolutionary biologists being given the opportunity to develop skills in molecular biology to augment their whole organism focus. Few developments in science, even among the subsequent genome discoveries of the 21st century, have the same wide-reaching significance. Even the later development of PCR-based genotyping of individuals using microsatellite repeats sequences, and their use in determining multiple paternity, is conceptually rooted in Alec Jeffreys’ pioneering work.

Highlights

  • Unique DNA fingerprints arise as a result of restriction enzyme digestion of an individual’s tandem repeat loci

  • It is clear that minisatellite DNA studies of humans and other animals were the successful forerunners of today’s microsatellite DNA genotyping methods

  • Because minisatellite DNA methods employed Southern blot analyses, these were both time-consuming and technically challenging to perform on a regular basis

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Summary

Introduction

Unique DNA fingerprints arise as a result of restriction enzyme digestion of an individual’s tandem repeat loci. Later developments in DNA fingerprinting Multilocus and single locus minisatellite-based ‘DNA fingerprinting’ methods were generally superseded by the use of single locus microsatellites to genetically identify individuals [49,50], and more recently by second generation sequencing (SGS)-based methodologies, including panels of SNPs. The original DNA minisatellite fingerprinting loci continued to be used to a limited extent for the characterization of individuals [51], population studies [52], the identification of disease markers [53,54] and quantitative trait loci, and the study of gene expression [55,56]. DNA fingerprinting in the era of whole genome second generation sequencing Ecologists continue to develop microsatellite loci for population genetic studies using the relatively recently introduced SGS platforms [97], and pipelines are emerging to maximize the success rate of microsatellite PCR primer development from SGS runs [98,99,100,101]. With the information inherent in genomewide SNPs, DNA fingerprinting, born from Jeffreys’ initial discovery of minisatellites, is likely to continue in the near future with the use of ‘complete’ genome datasets

Conclusions
64. Soulsbury CD
Findings
69. Hoogland JL
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