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Medientyp: E-Artikel Titel: T‐box genes and cardiac development Beteiligte: Ryan, Kenneth; Chin, Alvin J. Erschienen: Wiley, 2003 Erschienen in: Birth Defects Research Part C: Embryo Today: Reviews Sprache: Englisch DOI: 10.1002/bdrc.10001 ISSN: 1542-975X; 1542-9768 Schlagwörter: Developmental Biology ; Embryology ; General Medicine Entstehung: Anmerkungen: Beschreibung: <jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>T‐box genes play roles in vertebrate gastrulation and in later organogenesis. Their existence in all metazoans examined so far indicates that this is an evolutionarily ancient gene family. <jats:italic>Drosophila melanogaster</jats:italic> has eight T‐box genes, whereas <jats:italic>Caenorhabditis elegans</jats:italic> has 22. Mammals appear to have at least 18 T‐box genes, comprising five subfamilies.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>A full range of cytological, developmental, molecular and genetic methodologies have recently been applied to the study of T‐box genes.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>Over the last 5 years, mutations in <jats:italic>TBX1</jats:italic> and <jats:italic>TBX5</jats:italic> have been implicated in two human disorders with haplo‐insufficient cardiovascular phenotypes, DiGeorge/velocardiofacial syndrome and Holt‐Oram (“heart‐hand”) syndrome. Interestingly, the number of T‐box gene family members discovered to have cardiac or pharyngeal arch expression domains during vertebrate embryonic development has steadily grown. In addition, various <jats:italic>Tbx5</jats:italic> loss‐of‐function models in organisms as distant as the mouse and zebrafish do indeed phenocopy Holt‐Oram syndrome. Finally, the intriguing discovery earlier this year that a T‐box gene is expressed in a subset of cardioblasts in <jats:italic>D. melanogaster</jats:italic> suggests that members of this gene family may have fundamental, conserved roles in cardiovascular pattern formation.</jats:p></jats:sec><jats:sec><jats:title>Conclusions</jats:title><jats:p>These developments prompted us to review the current understanding of the contribution of T‐box genes to cardiovascular morphogenesis. Birth Defects Research (Part C) 69:25–37, 2003. © 2003 Wiley‐Liss, Inc.</jats:p></jats:sec>