THE MURINE CYLN2 GENE - GENOMIC ORGANIZATION, CHROMOSOME LOCALIZATION, AND COMPARISON TO THE HUMAN GENE THAT IS LOCATED WITHIN THE 7Q11.23 WILLIAMS-SYNDROME CRITICAL REGION

Cytoplasmic linker proteins (CLIPs) have been proposed to mediate the interaction between specific membranous organelles and microtubules. W e have recently characterized a novel member of this family, called CL IP-115. This protein is most abundantly expressed in the brain and was found to associate both with microtubules and with an organelle calle d the dendritic lamellar body. CLLP-115 is highly homologous to CLIP-1 70, or restin, which is a protein involved in the binding of endosomes to microtubules. Using the rat cDNA as a probe me have isolated overl apping cosmids containing the complete murine and part of the human CY LN2 (cytoplasmic linker-a) genes, which encode CLIP-115. The murine ge ne spans 60 kb and consists of 17 exons, and its promoter is embedded in a CpG; island. Murine CYLN2 maps 60 the telomeric end of mouse chro mosome 5. The human CYLN2 gene is localized to a syntenic region on ch romosome 7q11.23, which is commonly deleted in Williams syndrome. It s pans at least 140 kb at the 3' end of the deletion. Human CYLN2 is ver y likely identical to the previously characterized, incomplete WSCR4 a nd WSCR3 transcription units. (C) 1998 Academic Press.