title: Genomic structure of the human GT334 (EHOC-1) gene mapping to 21q22.3.
abstract: Several inherited diseases have been mapped to the distal tip of human chromosome 21. In our recent efforts to clone candidate genes for some of these disorders, we have assembled a cosmid and BAC contig spanning 770 kb. We have identified expressed sequences from this contig by means of a cDNA hybrid selection scheme. We present here the isolation, cDNA sequence, genomic organization, and polymorphisms analysis of one such expressed sequence, GT334, which had been identified independently and designated EHOC-1. GT334 is split into 23 exons, and spans an estimated 95 kb of genomic DNA. A pseudogene of the histone H2AZ gene has been identified, and maps within the third intron. We have identified an ORF potentially encoding a protein 1259 amino acids in length, longer than that described in the EHOC-1 gene. The GT334 gene was screened for single base pair changes using single-strand conformation polymorphism (SSCP) analysis and we have identified seven sequence variations within this gene. These polymorphisms can be used as markers in the genetic mapping of other diseases localized to this region.
authors.affiliation: Centre for Research in Neuroscience, McGill University and Department of Neurology, Montreal General Hospital Research Institute, Canada. lafrenir@biochem-pharma.com
authors.forename: R G
authors.initials: RG
authors.lastname: Lafrenière
authors.forename: Z
authors.initials: Z
authors.lastname: Kibar
authors.forename: D L
authors.initials: DL
authors.lastname: Rochefort
authors.forename: F Y
authors.initials: FY
authors.lastname: Han
authors.forename: E A
authors.initials: EA
authors.lastname: Fon
authors.forename: M P
authors.initials: MP
authors.lastname: Dubé
authors.forename: X
authors.initials: X
authors.lastname: Kang
authors.forename: S
authors.initials: S
authors.lastname: Baird
authors.forename: R G
authors.initials: RG
authors.lastname: Korneluk
authors.forename: J M
authors.initials: JM
authors.lastname: Rommens
authors.forename: G A
authors.initials: GA
authors.lastname: Rouleau
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002891:Chromosomes, Human, Pair 21; D003360:Cosmids; D018076:DNA, Complementary / Q000235:genetics; D005091:Exons; D015870:Gene Expression; D005796:Genes; D006801:Humans; D007438:Introns; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D015183:Restriction Mapping; D033921:Vesicular Transport Proteins
chemical_list: D018076:DNA, Complementary; D008565:Membrane Proteins; C106708:TRAPPC10 protein, human; D033921:Vesicular Transport Proteins