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. We have recently characterized a novel member of this family, called CLIP-115. This protein is most abundantly expressed in the brain and was found to associate both with microtubules and with an organelle called the dendritic lamellar body. CLIP-115 is highly homologous to CLIP-170, or restin, which is a protein involved in the binding of endosomes to microtubules. Using the rat cDNA as a probe we have isolated overlapping cosmids containing the complete murine and part of the humanCYLN2(cytoplasmic linker-2) genes, which encode CLIP-115. The murine gene spans 60 kb and consists of 17 exons, and its promoter is embedded in a CpG island. MurineCYLN2maps to the telomeric end of mouse chromosome 5. The humanCYLN2gene is localized to a syntenic region on chromosome 7q11.23, which is commonly deleted in Williams syndrome. It spans at least 140 kb at the 3′ end of the deletion. HumanCYLN2is very likely identical to the previously characterized, incompleteWSCR4andWSCR3transcription units

• View at Publisher
• View at Pubmed
• View at Scopus
• View at Web of Science