Copy-Number Variations Involving the IHH Locus Are Associated with Syndactyly and Craniosynostosis
Copyright policy )Copy-Number Variations Involving the IHH Locus Are Associated with Syndactyly and Craniosynostosis
Indian hedgehog (IHH) is a secreted signaling molecule of the hedgehog family known to play important roles in the regulation of chondrocyte differentiation, cortical bone formation, and the development of joints. Here, we describe that copy-number variations of the IHH locus involving conserved noncoding elements (CNEs) are associated with syndactyly and craniosynostosis. These CNEs are able to drive reporter gene expression in a pattern highly similar to wild-type Ihh expression. We postulate that the observed duplications lead to a misexpression and/or overexpression of IHH and by this affect the complex regulatory signaling network during digit and skull development.
- University of L'Aquila Italy
- University of Rome Tor Vergata Italy
- Charité - University Medicine Berlin Germany
- Max Planck Society Germany
- Freie Universität Berlin Germany
Male, DNA Copy Number Variations, Mice, Transgenic, Settore MED/03 - GENETICA MEDICA, Fingers, Craniosynostoses, Mice, Gene Duplication, Genetics, Animals, Humans, Genetics(clinical), Hedgehog Proteins, Hedgehog Proteins - genetics, Conserved Sequence, Settore MED/36 - DIAGNOSTICA PER IMMAGINI E RADIOTERAPIA, Skull, Gene Expression Regulation, Developmental, Animals, Conserved Sequence; genetics, Craniosynostoses; genetics, DNA Copy Number Variations, Female, Fingers; growth /&/ development, Gene Duplication, Gene Expression Regulation; Developmental; genetics, Genetic Loci, Hedgehog Proteins; genetics, Humans, Male, Mice, Mice; Transgenic, Mutation, Skull; growth /&/ development, Syndactyly; genetics, Genetic Loci, Mutation, Female, Syndactyly, Craniosynostoses - genetics
Male, DNA Copy Number Variations, Mice, Transgenic, Settore MED/03 - GENETICA MEDICA, Fingers, Craniosynostoses, Mice, Gene Duplication, Genetics, Animals, Humans, Genetics(clinical), Hedgehog Proteins, Hedgehog Proteins - genetics, Conserved Sequence, Settore MED/36 - DIAGNOSTICA PER IMMAGINI E RADIOTERAPIA, Skull, Gene Expression Regulation, Developmental, Animals, Conserved Sequence; genetics, Craniosynostoses; genetics, DNA Copy Number Variations, Female, Fingers; growth /&/ development, Gene Duplication, Gene Expression Regulation; Developmental; genetics, Genetic Loci, Hedgehog Proteins; genetics, Humans, Male, Mice, Mice; Transgenic, Mutation, Skull; growth /&/ development, Syndactyly; genetics, Genetic Loci, Mutation, Female, Syndactyly, Craniosynostoses - genetics
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