title: Expressed genes, Alu repeats and polymorphisms in cosmids sequenced from chromosome 4p16.3.
abstract: The sequences of three cosmids (90 kilobases) from the Huntington's disease region in chromosome 4p16.3 have been determined. A 30,837 base overlap of DNA sequenced from two individuals was found to contain 72 DNA sequence polymorphisms, an average of 2.3 polymorphisms per kilobase (kb). The assembled 58 kb contig contains 62 Alu repeats, and eleven predicted exons representing at least three expressed genes that encode previously unidentified proteins. Each of these genes is associated with a CpG island. The structure of one of the new genes, hda1-1, has been determined by characterizing cDNAs from a placental library. This gene is expressed in a variety of tissues and may encode a novel housekeeping gene.
authors.affiliation: Section of Receptor Biochemistry and Molecular Biology, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892.
authors.forename: W R
authors.initials: WR
authors.lastname: McCombie
authors.forename: A
authors.initials: A
authors.lastname: Martin-Gallardo
authors.forename: J D
authors.initials: JD
authors.lastname: Gocayne
authors.forename: M
authors.initials: M
authors.lastname: FitzGerald
authors.forename: M
authors.initials: M
authors.lastname: Dubnick
authors.forename: J M
authors.initials: JM
authors.lastname: Kelley
authors.forename: L
authors.initials: L
authors.lastname: Castilla
authors.forename: L I
authors.initials: LI
authors.lastname: Liu
authors.forename: S
authors.initials: S
authors.lastname: Wallace
authors.forename: S
authors.initials: S
authors.lastname: Trapp
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D003001:Cloning, Molecular; D003062:Codon / Q000235:genetics; D003360:Cosmids; D004247:DNA / Q000235:genetics*; D004251:DNA Transposable Elements; D005260:Female; D015870:Gene Expression; D015723:Gene Library; D006801:Humans; D006816:Huntington Disease / Q000235:genetics*; D006822:Hybrid Cells; D008969:Molecular Sequence Data; D010920:Placenta / Q000502:physiology; D017354:Point Mutation; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011506:Proteins / Q000235:genetics; D012091:Repetitive Sequences, Nucleic Acid
chemical_list: D003062:Codon; D004251:DNA Transposable Elements; D011506:Proteins; C081125:hda1-1 protein, human; D004247:DNA