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Gene Action: Developmental Genetics

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Vogel and Motulsky's Human Genetics

Abstract

Developmental genetics studies the mechanisms how genes initiate and control the process by which a single cell can give rise to a mature organism. This includes mechanisms of early patterning, as well as later events that result in the formation and maturation of organ systems. Developmentally active genes exert their effects through many pathways and mechanisms including diffusing morphogens, cell migration, proliferation, and border formation. Transient structures such as the somites, the branchial arches and the apical ecto-dermal ridge serve as scaffold and signaling centers during embryogenesis. Gene defects frequently result in abnormal development with specific phenotypes that reflect the gene's essential functions during embryogenesis. In many instances this results in a combination of malformations that are characteristic for a specific syndrome.

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Author information

Authors and Affiliations

  1. Institute for Medical Genetics, Charité, Universitaetsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; Forschungsgruppe Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Ihnestraβe 73, 14195, Germany

    Stefan Mundlos

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  1. Stefan Mundlos
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Editor information

Editors and Affiliations

  1. Institute of Human Genetics, Medical University of Graz, Harrachgasse 21/8, Graz, 8010, Austria

    Michael R. Speicher

  2. Departments of Medicine (Division of Medical Genetics) and Genome Sciences, University of Washington School of Medicine, 1705 N.E. Pacific St., 355065, Seattle, WA, 98195-5065, USA

    Arno G. Motulsky (Professor Emeritus) (Professor Emeritus)

  3. Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, 1 rue Michel-Servet, Geneva, 1211, Switzerland

    Stylianos E. Antonarakis

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Mundlos, S. (2010). Gene Action: Developmental Genetics. In: Speicher, M.R., Motulsky, A.G., Antonarakis, S.E. (eds) Vogel and Motulsky's Human Genetics. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-37654-5_15

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