title: Gene structure and genetic localization of the PCLO gene encoding the presynaptic active zone protein Piccolo.
abstract: Piccolo belongs to a family of presynaptic cytoskeletal proteins likely to be involved in the assembly and function of presynaptic active zones as sites of neurotransmitter release. Given that abnormalities in the formation of synaptic junctions are thought to contribute to cognitive dysfunction during brain development, we have analyzed and compared the gene structure of the Piccolo gene, PCLO, from humans and mice and determined their chromosomal localization. A comparison of the deduced amino acid sequence of cDNA clones encoding Piccolo from human, mouse, rat and chicken reveals the presence of distinct homology domains. Only subsets of these are also present in the structurally related active zone protein Bassoon indicating that Piccolo and Bassoon perform related but distinct functions at active zones. Characterization of the PCLO gene reveals the presence of 25 coding exons spread over 380kb of genomic DNA. The human PCLO gene maps to 7q11.23-q21.3, a region of chromosome 7 implicated as a linkage site for autism and Williams Syndrome suggesting that alterations in the expression of Piccolo or the PCLO gene could contribute to developmental disabilities and mental retardation.
authors.affiliation: Department of Neurobiology, University of Alabama at Birmingham, Birmingham, AL 35294-0021, USA.
authors.forename: Steven D
authors.initials: SD
authors.lastname: Fenster
authors.forename: Craig C
authors.initials: CC
authors.lastname: Garner
mesh_terms: D000818:Animals; D001921:Brain / Q000378:metabolism*; D002454:Cell Differentiation / Q000235:genetics*; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D003598:Cytoskeletal Proteins / Q000235:genetics* / Q000378:metabolism; D005089:Exocytosis / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D051379:Mice; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000235:genetics / Q000378:metabolism; D009479:Neuropeptides / Q000235:genetics* / Q000378:metabolism; D017729:Presynaptic Terminals / Q000378:metabolism*; D017434:Protein Structure, Tertiary / Q000235:genetics; D012333:RNA, Messenger / Q000235:genetics; D051381:Rats; D017386:Sequence Homology, Amino Acid; D012689:Sequence Homology, Nucleic Acid; D013570:Synaptic Membranes / Q000378:metabolism*; D009435:Synaptic Transmission / Q000235:genetics
chemical_list: C498440:BSN protein, human; C498441:Bsn protein, mouse; C113688:Bsn protein, rat; D003598:Cytoskeletal Proteins; D009419:Nerve Tissue Proteins; D009479:Neuropeptides; C498630:PCLO protein, human; C498631:Pclo protein, mouse; C405514:Pclo protein, rat; D012333:RNA, Messenger