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This Timeline article reviews the evolution of both prenatal and pre-implantation genetic testing, from their historic origins to ongoing development and implementation of tools for genome-wide single-cell and cell-free fetal DNA analysis. Future developments and some of the ethical issues that arise from these new technologies are also discussed.
Over the past few decades, epigenetics has evolved from a collection of curious biological phenomena to a functionally dissected research field. In this article, the authors provide a personal perspective on the advances of research into epigenetics — from its historical origins to its modern era — with a focus on molecular breakthroughs.
Discoveries over the past decade portend a paradigm shift in molecular biology; evidence suggests that RNA is not only functional as a messenger between DNA and protein but also involved in the regulation of genome organization and gene expression. This Timeline article surveys the emergence of the previously unsuspected world of regulatory RNA from a historical perspective.
Genomic imprinting has provided insights into epigenetic principles that apply in many contexts. This Timeline highlights lessons for developmental gene regulation by looking back at the emergence of our understanding of imprinting, particularly in mammals, and commenting on current questions and recent progress.
For decades, mutant mice have been used to model human disease and to functionally annotate the mammalian genome. Advances in generating mutants on a large scale — through both forward and reverse genetic approaches — have accelerated progress, as documented by this history of mouse mutagenesis.
Theodor Boveri is best remembered for his chromosome theory of heredity. However, the contributions that he and his wife, Marcella O'Grady Boveri, made to the early days of genetics are greater than just this.
Although the early years of genetics have been well described by historians, it is only now being realized that this was one of the earliest emerging disciplines in twentieth-century biology to benefit from the contributions of women. Many, however, became 'silent scientists' — publishing no paper beyond their dissertation.
Misleading views of embryology led to the marginalization of this field in the first half of the twentieth century. Gavin de Beer was partly responsible for introducing a genetic perspective to evo–devo, and anticipated continuing problems for molecular genetics.
Although genetics flourished in the first half of the twentieth century, human cytogenetics lagged behind, held up by the obstinate belief that humans had 48 chromosomes. This article examines the technical and psychological factors that hampered progress in the field.
Understanding how developmental processes are altered evolutionarily to produce changes in organismal form is one of the great challenges of evo–devo research. D'Arcy Wentworth Thompson deserves much credit for the inspiration his work has provided for modern evo–devo.
The recent eruption of interest in embryonic stem cell research is fuelled by the promise and potential of this work. But current work is firmly grounded in several decades of fascinating research that are engagingly summarized here by the author.