title: 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.
abstract: 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 human CYLN2 (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. Murine CYLN2 maps to the telomeric end of mouse chromosome 5. The human CYLN2 gene 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. Human CYLN2 is very likely identical to the previously characterized, incomplete WSCR4 and WSCR3 transcription units.
authors.affiliation: MGC Department of Cell Biology and Genetics, Erasmus University, Rotterdam, 3000 DR, The Netherlands.
authors.forename: C C
authors.initials: CC
authors.lastname: Hoogenraad
authors.forename: B H
authors.initials: BH
authors.lastname: Eussen
authors.forename: A
authors.initials: A
authors.lastname: Langeveld
authors.forename: R
authors.initials: R
authors.lastname: van Haperen
authors.forename: S
authors.initials: S
authors.lastname: Winterberg
authors.forename: C H
authors.initials: CH
authors.lastname: Wouters
authors.forename: F
authors.initials: F
authors.lastname: Grosveld
authors.forename: C I
authors.initials: CI
authors.lastname: De Zeeuw
authors.forename: N
authors.initials: N
authors.lastname: Galjart
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D001921:Brain / Q000378:metabolism; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D018076:DNA, Complementary / Q000235:genetics; D005091:Exons; D005260:Female; D015870:Gene Expression; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007438:Introns; D051379:Mice; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000235:genetics*; D011247:Pregnancy; D051381:Rats; D017386:Sequence Homology, Amino Acid; D013045:Species Specificity; D014018:Tissue Distribution; D018980:Williams Syndrome / Q000235:genetics*
chemical_list: D018076:DNA, Complementary; D008869:Microtubule-Associated Proteins; D009419:Nerve Tissue Proteins; C109878:cytoplasmic linker protein 115