The genomic structure, chromosome location, and analysis of the human DKK1 head inducer gene as a candidate for holoprosencephaly

descriptionPublicationkeyboard_double_arrow_right Article 01 Jan 2000 English Publisher:S. Karger AGJournal:Cytogenetic and Genome Research, volume 89, pages 220-224 (issn: 1424-8581, eissn: 1424-859X,

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Authors: E, Roessler; Y, Du; A, Glinka; A, Dutra; C, Niehrs; M, Muenke;

doi: 10.1159/000015618

pmid: 10965128

The genomic structure, chromosome location, and analysis of the human DKK1 head inducer gene as a candidate for holoprosencephaly

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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 <i>dkk-1</i> 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.

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Keywords

Embryo, Nonmammalian, Sequence Homology, Amino Acid, Chromosomes, Human, Pair 10, Xenopus, Molecular Sequence Data, Chromosome Mapping, Proteins, DNA, Sequence Analysis, DNA, Xenopus Proteins, Genes, Holoprosencephaly, Mutation, Animals, Humans, Intercellular Signaling Peptides and Proteins, Amino Acid Sequence, Sequence Alignment, In Situ Hybridization, Fluorescence

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Homo sapiens (human) dickkopf homolog 1
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Homo sapiens chromosome 10 dickkopf homolog 1 (DKK1) gene, complete cds.
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