title: Characterization of the mouse Src homology 3 domain gene Sh3d2c on Chr 7 demonstrates coexpression with huntingtin in the brain and identifies the processed pseudogene Sh3d2c-ps1 on Chr 2.
abstract: Formation of intracellular protein complexes is often mediated by Src homology 3 domain-containing proteins interacting with proline-rich target sequences on other proteins. The Sh3d2c gene or its rat/human orthologs have been implicated in synaptic vesicle recycling due to interaction with dynamin I and synaptojanin in nerve terminals. In a yeast two-hybrid system, association with a huntingtin fragment containing an elongated stretch of polyglutamines was observed recently. By genetic mapping and fluorescence in situ hybridization we demonstrate the localization of Sh3d2c on mouse chromosome 7. A processed pseudogene of Sh3d2c, Sh3d2c-ps1, was identified and mapped to mouse chromosome 2. Using RNA in situ hybridization, we show that Sh3d2c is transcribed in various regions of the brain. The striatum, hippocampus, cortex, basal hypothalamus, brain stem, and cerebellum are the most prominent sites of expression. Because huntingtin and Sh3d2c are coexpressed in most regions of the brain, it can be speculated that there is a link between the association of huntingtin/Sh3d2c and the pathogenesis of Huntington disease.
authors.affiliation: Max-Planck-Institute for Molecular Genetics, Ihnestrasse 73, Berlin-Dahlem, D14195, Germany.
authors.forename: U
authors.initials: U
authors.lastname: Zechner
authors.forename: S
authors.initials: S
authors.lastname: Scheel
authors.forename: M
authors.initials: M
authors.lastname: Hemberger
authors.forename: M
authors.initials: M
authors.lastname: Hopp
authors.forename: T
authors.initials: T
authors.lastname: Haaf
authors.forename: R
authors.initials: R
authors.lastname: Fundele
authors.forename: E E
authors.initials: EE
authors.lastname: Wanker
authors.forename: H
authors.initials: H
authors.lastname: Lehrach
authors.forename: N
authors.initials: N
authors.lastname: Wedemeyer
authors.forename: H
authors.initials: H
authors.lastname: Himmelbauer
mesh_terms: D000818:Animals; D001921:Brain / Q000254:growth & development / Q000502:physiology*; D002874:Chromosome Mapping / Q000379:methods*; D003001:Cloning, Molecular; D018507:Gene Expression Regulation, Developmental; D006816:Huntington Disease / Q000235:genetics*; D017404:In Situ Hybridization, Fluorescence; D051379:Mice; D008810:Mice, Inbred C57BL; D008969:Molecular Sequence Data; D011544:Pseudogenes / Q000235:genetics*; D017422:Sequence Analysis, DNA; D018909:src Homology Domains