Biomedical Frontiers: Winter 1994, Vol.1, No.2
Columbia Gets $6 million for Chromosome 13 Mapping

Columbia scientists have been studying chromosome 13 since 1989. To help today's group of 22 researchers in eight laboratories continue the effort, the National Center for Human Genome Research has awarded Columbia-Presbyterian Medical Center a new three-year grant of nearly $6 million for "The Physical Mapping of Human Chromosome 13."

The mapping of chromosome 13 facilitates the identification of disease-causing gene abnormalities and helps delineate normal gene functions. Diseases associated with chromosome 13 mutations include retinoblastoma; Duchenne-like muscular dystrophy; and Wilson's disease, a disorder of copper metabolism causing liver failure. Of approximately 1,800 genes on chromosome 13, less than 100, including some responsible for genetic disease, have been identified and located with precision.

Mapping involves various and related genetic and physical strategies at Columbia. Cytogenetic approaches allow for the development of cell lines that contain intact chromosome 13 or chromosome 13 with missing segments that are used for further physical manipulation and cloning. Genomic DNA cloned into yeast artificial chromosomes (YACs) 400-1,200 Kb long, as well as cosmids 30-50 Kb long, are constructed from the DNA of these cell lines to help arrange large pieces of DNA in their natural order along the chromosome. Polymorphism analysis, variable tandem repeats, and CA repeats help place genes in their proper location on the chromosome. cDNA hybridization to chromosome 13 DNA and chromosome- 13 specific cDNA libraries also help place genes in their position.

Dr. Argiris Efstratiadis, Eugene Higgins Professor of Genetics and Development, is the principal investigator of the program project grant. Dr. Isidore S. Edelman, professor emeritus of biochemistry and molecular biophysics and former department chairman, is administrative director.