Neurofibromatosis type 1. Beyond positional cloning
D. H. Gutmann and F. S. Collins
Department of Neurology, University of Michigan Medical School, Ann Arbor.
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.
