Mapping of the beige (bg) gene on rat chromosome 17.

The rat beige (bg) autosomal recessive gene, causing Chediak-Higashi Syndrome (CHS) in rat, was mapped on Chr 17 by using synteny of rat to mouse and humans. The linkage between the beige gene and PCR-amplified microsatellite markers in (DA-bg x BN)F1 x DA-bg backcross progeny was analysed. The recombination frequency was 9.5% between Prl and Acrm and 19.1% between Acrm and bg. The proposed order of three genes is Prl-Acrm-bg. This rat bg gene was confirmed to be homologus to the beige (bg) gene of mouse located on Chr 13 and the CHS (Lyst) gene of man located on Chr 1 (1q43).     

Mapping of the focal adhesion kinase (Fadk) gene to mouse Chromosome 15 and human Chromosome 8

Focal adhesion kinase (pp125FAK or FAK) is a cytoplasmic protein-tyrosine kinase stimulated in response to cell interactions with extracellular matrix components and by exposure to a variety of agonists, including neuropeptides. FAK lacks Srchomology SH2 and SH3 domains, is highly conserved across species, and may represent the prototype for a tyrosine kinase family involved in novel signal transduction pathways. We have identified sequence variants in the 3 untranslated regions of the focal adhesion kinase gene in mice and used a PCR-based oligonucleotide hybridization assay to map the mouse gene (Fadk) to Chromosome (Chr) 15 distal to the myelocytomatosis protooncogene (Myc). The human homolog (PTK2) has been assigned to human Chr 8 on a panel of somatic hybrid cell lines. On the basis of synteny of mouse and human chromosomal maps, the position of the human PTK2 gene probably corresponds to human Chr 8q24-qter.The nucleotide sequence data reported in this paper have been submitted to the GenBank data library; the accession number is U15088.     

Genetic Mapping of the BRCA1 Region on Chromosome 17q21

Chromosome 17q21 harbors a gene (BRCA1) associated with a hereditary form of breast cancer. As a step toward identification of this gene itself we developed a number of simple-sequence-repeat (SSR) markers for chromosome 17 and constructed a high-resolution genetic map of a 40-cM region around 17q21. As part of this effort we captured genotypes from five of the markers by using an ABI sequencing instrument and stored them in a locally developed database, as a step toward automated genotyping. In addition, YACs that physically link some of the SSR markers were identified. The results provided by this study should facilitate physical mapping of the BRCA1 region and isolation of the BRCA1 gene.