title: The genomic structure, chromosome location, and analysis of the human DKK1 head inducer gene as a candidate for holoprosencephaly.
abstract: Holoprosencephaly (HPE) is the most common developmental defect of the brain and face in humans. Here we report the analysis of the human ortholog of dkk-1 as a candidate gene for HPE. We determined the genomic structure of the human gene DKK1 and mapped it to chromosome 10q11.2. Functional analysis of four missense mutations identified in HPE patients revealed preserved activity in head induction assays in frogs suggesting a limited role for this gene in HPE pathogenesis.
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
authors.forename: E
authors.initials: E
authors.lastname: Roessler
authors.forename: Y
authors.initials: Y
authors.lastname: Du
authors.forename: A
authors.initials: A
authors.lastname: Glinka
authors.forename: A
authors.initials: A
authors.lastname: Dutra
authors.forename: C
authors.initials: C
authors.lastname: Niehrs
authors.forename: M
authors.initials: M
authors.lastname: Muenke
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004625:Embryo, Nonmammalian / Q000002:abnormalities / Q000378:metabolism; D005796:Genes / Q000235:genetics*; D016142:Holoprosencephaly / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D036341:Intercellular Signaling Peptides and Proteins; D008969:Molecular Sequence Data; D009154:Mutation; D011506:Proteins / Q000235:genetics*; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid; D014981:Xenopus; D029867:Xenopus Proteins
chemical_list: C501126:DKK1 protein, human; D036341:Intercellular Signaling Peptides and Proteins; D011506:Proteins; D029867:Xenopus Proteins; C110182:dkk1 protein, Xenopus; D004247:DNA