title: Genomic organization and complete nucleotide sequence of the human PWP2 gene on chromosome 21.
abstract: The human PWP2 gene is the human homologue of the yeast periodic tryptophan protein 2 (PWP2) gene and is a member of the gene family that contains tryptophan-aspartate (WD) repeats. Genomic sequencing revealed that the human PWP2 gene consists of 21 exons spanning approximately 24 kb and locates just between the two genes EHOC-1 and KNP-I and distal to a NotI site of LJ104 (D21S1460) on chromosome 21q22.3. Analysis of the 5'-flanking DNA sequence revealed that the upstream region of the PWP2 gene is associated with a CpG island containing the NotI site of LJ104. Since PWP2 is considered to be a candidate for genetic disorders mapped in the 21q22.3 region, the information including nucleotide sequence and genomic organization of the PWP2 gene should be invaluable for the mutation analysis of the corresponding genetic disorders.
authors.affiliation: Department of Molecular Biology, Keio University School of Medicine, Shinjuku-ku, Tokyo, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Nagamine
authors.forename: J
authors.initials: J
authors.lastname: Kudoh
authors.forename: S
authors.initials: S
authors.lastname: Minoshima
authors.forename: K
authors.initials: K
authors.lastname: Kawasaki
authors.forename: S
authors.initials: S
authors.lastname: Asakawa
authors.forename: F
authors.initials: F
authors.lastname: Ito
authors.forename: N
authors.initials: N
authors.lastname: Shimizu
mesh_terms: D001483:Base Sequence; D002891:Chromosomes, Human, Pair 21; D018076:DNA, Complementary; D015894:Genome, Human; D006801:Humans; D008969:Molecular Sequence Data; D011506:Proteins / Q000235:genetics*; D012269:Ribosomal Proteins; D029701:Saccharomyces cerevisiae Proteins
chemical_list: D018076:DNA, Complementary; C100850:PWP2 protein, S cerevisiae; C484410:PWP2 protein, human; D011506:Proteins; D012269:Ribosomal Proteins; D029701:Saccharomyces cerevisiae Proteins