title: A novel G protein-coupled receptor kinase gene cloned from 4p16.3.
abstract: Within the Huntington's disease (HD) candidate region of 4p16.3, the D4S127 locus displays strong linkage disequilibrium with the defect and anchors a conserved haplotype found on many HD chromosomes. To isolate genes from this region we have applied the exon amplification technique to overlapping cosmids spanning D4S127. Here, we report the discovery of a new gene encoding a novel member of a family of protein kinases that specifically phosphorylate the activated forms of G protein-coupled receptors. Such kinases are thought to participate in desensitization of specific receptors, thereby blocking further signal transduction. This gene must now be carefully scrutinized to determine whether it might be involved in HD.
authors.affiliation: Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown 02129.
authors.forename: C
authors.initials: C
authors.lastname: Ambrose
authors.forename: M
authors.initials: M
authors.lastname: James
authors.forename: G
authors.initials: G
authors.lastname: Barnes
authors.forename: C
authors.initials: C
authors.lastname: Lin
authors.forename: G
authors.initials: G
authors.lastname: Bates
authors.forename: M
authors.initials: M
authors.lastname: Altherr
authors.forename: M
authors.initials: M
authors.lastname: Duyao
authors.forename: N
authors.initials: N
authors.lastname: Groot
authors.forename: D
authors.initials: D
authors.lastname: Church
authors.forename: J J
authors.initials: JJ
authors.lastname: Wasmuth
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D003001:Cloning, Molecular; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D005091:Exons; D005625:Frontal Lobe / Q000378:metabolism; D019204:GTP-Binding Proteins / Q000378:metabolism*; D006801:Humans; D006816:Huntington Disease / Q000235:genetics* / Q000378:metabolism; D008969:Molecular Sequence Data; D009838:Oligodeoxyribonucleotides; D010215:Papio; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic; D017346:Protein Serine-Threonine Kinases / Q000235:genetics* / Q000378:metabolism; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D011956:Receptors, Cell Surface / Q000235:genetics* / Q000378:metabolism; D015183:Restriction Mapping; D017386:Sequence Homology, Amino Acid
chemical_list: D009838:Oligodeoxyribonucleotides; D012333:RNA, Messenger; D011956:Receptors, Cell Surface; D004247:DNA; D017346:Protein Serine-Threonine Kinases; D019204:GTP-Binding Proteins