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Beyond Positional Cloning

David H. Gutmann, MD, PhD; Francis S. Collins, MD, PhD

Arch Neurol. 1993;50(11):1185-1193.

Abstract
Recent advances in molecular genetics have enabled researchers to more rapidly identify human disease genes. The identification of these genes by positional cloning has opened the door to a better understanding of such diseases through a more complete appreciation of the molecular biologic processes that underlie them. In this review, the approaches taken to dissect the function of the gene for von Recklinghausen neurofibromatosis are presented. These general approaches involve identification of the protein product, determination of its relation to other known proteins, analysis of its distribution in tissues, within cells, and over development, and dissection of its role in producing the disease phenotype. Last, the insights gained from studying the molecular biology of the neurofibromatosis type 1 gene have direct impact on other biologic processes, such as neoplasia, cellular differentiation, and growth factor-mediated signal transduction as well as potential application to improved treatments for neurofibromatosis type 1 and cancer.

Author Affiliations
From the Departments of Neurology, Internal Medicine, Human Genetics and The Howard Hughes Medical Institute, The University of Michigan Medical School, Ann Arbor. Dr Gutmann is presently with the Neurology Department, Washington University School of Medicine, St Louis, Mo. Dr Collins is presently with the National Center for Human Genome Research, National Institutes of Health, Bethesda, Md.

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