Homeobox Genes and Human Genetic Disorders

Authors: Zhao Y.; Westphal H.

Source: Current Molecular Medicine, Volume 2, Number 1, February 2002 , pp. 13-23(12)

Publisher: Bentham Science Publishers

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Abstract:

Homeobox genes encode transcriptional regulators of embryonic development. Many genetic disorders affecting multiple organ systems have been associated with a diverse array of mutations in one or another of at least 27 different members of this gene family. We briefly describe the affected genes and the major phenotypes presented by the patients that carry the mutations. Although cause-and-effect relationships are difficult to prove in human genetics, there is little doubt that the observed mutations play a crucial role in the etiology of the associated disorders. The impressive wealth of collected data greatly benefits genetic counseling and stimulates efforts to develop novel avenues of targeted therapy

Keywords: Homeobox Genes; Human Genetic Disorders; Bicoid; Dlx3 gene; Emx2 gene; Hox genes; Lim-homeobox gene; Msx genes; Nkx2-5 gene; Paired homeobox genes

Language: English

Document Type: Review article

DOI: http://dx.doi.org/10.2174/1566524023363077

Publication date: 2002-02-01

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Current Molecular Medicine is an interdisciplinary journal focused on providing the readership with current and comprehensive reviews on fundamental molecular mechanisms of disease pathogenesis, the development of molecular-diagnosis and/or novel approaches to rational treatment. The reviews should be of significant interest to basic researchers and clinical investigators in molecular medicine. Periodically the journal will invite guest editors to devote an issue on a basic research area that shows promise to advance our understanding of the molecular mechanism(s) of a disease or has potential for clinical applications.