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There is growing enthusiasm in the scientific community about the prospect of mapping and sequencing the human genome, a monumental project that will have far-reaching consequences for medicine, biology, technology, and other fields. But how will such an effort be organized and funded? How will we develop the new technologies that are needed? What new legal, social, and ethical questions will be raised? Mapping and Sequencing the Human Genome is a blueprint for this proposed project. The authors offer a highly readable explanation of the technical aspects of genetic mapping and sequencing, and they recommend specific interim and long-range research goals, organizational strategies, and funding levels. They also outline some of the legal and social questions that might arise and urge their early consideration by policymakers.
A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.
Human genomes are 99.9 percent identical—with one prominent exception. Instead of a matching pair of X chromosomes, men carry a single X, coupled with a tiny chromosome called the Y. Tracking the emergence of a new and distinctive way of thinking about sex represented by the unalterable, simple, and visually compelling binary of the X and Y chromosomes, Sex Itself examines the interaction between cultural gender norms and genetic theories of sex from the beginning of the twentieth century to the present, postgenomic age. Using methods from history, philosophy, and gender studies of science, Sarah S. Richardson uncovers how gender has helped to shape the research practices, questions asked, theories and models, and descriptive language used in sex chromosome research. From the earliest theories of chromosomal sex determination, to the mid-century hypothesis of the aggressive XYY supermale, to the debate about Y chromosome degeneration, to the recent claim that male and female genomes are more different than those of humans and chimpanzees, Richardson shows how cultural gender conceptions influence the genetic science of sex. Richardson shows how sexual science of the past continues to resonate, in ways both subtle and explicit, in contemporary research on the genetics of sex and gender. With the completion of the Human Genome Project, genes and chromosomes are moving to the center of the biology of sex. Sex Itself offers a compelling argument for the importance of ongoing critical dialogue on how cultural conceptions of gender operate within the science of sex.