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Identification and Functional Analysis of ZIC3 Mutations in Heterotaxy and Related Congenital Heart Defects  Stephanie M. Ware, Jianlan Peng, Lirong Zhu,

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Presentation on theme: "Identification and Functional Analysis of ZIC3 Mutations in Heterotaxy and Related Congenital Heart Defects  Stephanie M. Ware, Jianlan Peng, Lirong Zhu,"— Presentation transcript:

1 Identification and Functional Analysis of ZIC3 Mutations in Heterotaxy and Related Congenital Heart Defects  Stephanie M. Ware, Jianlan Peng, Lirong Zhu, Susan Fernbach, Suzanne Colicos, Brett Casey, Jeffrey Towbin, John W. Belmont  The American Journal of Human Genetics  Volume 74, Issue 1, Pages (January 2004) DOI: /380998 Copyright © 2004 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Conservation of ZIC3 sequence and location of all known mutations. The five C2H2 zinc finger domains are shaded. The amino acid position for each mutation is boxed. Symbols above each box signify the type of mutation: circle (•) = missense; star (★) = nonsense; downward arrowhead (▾) = insertion. The American Journal of Human Genetics  , DOI: ( /380998) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

3 Figure 2 ZIC3 mutations in familial heterotaxy. Sequence traces for the hemizygous proband are shown below each pedigree. Sequences shown for LAT 129 and LAT 138 represent the reverse complement. The phenotypes of affected individuals for whom data are available are shown in table 3. The American Journal of Human Genetics  , DOI: ( /380998) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

4 Figure 3 ZIC3 mutations alter transactivation of an SV40 luciferase reporter gene. The luciferase activity of an SV40-luciferase construct cotransfected with HA-ZIC3 wild-type (WT) or mutant constructs is indicated. The specific HA-ZIC3 construct used for cotransfection is shown below each bar. Luciferase activities were measured relative to a promoterless control plasmid and the mean fold-activation as compared with that of the wild type is expressed as a percentage. Each bar represents a minimum of four separate experiments. Vertical lines indicate the standard deviation for each set of experiments. The American Journal of Human Genetics  , DOI: ( /380998) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

5 Figure 4 Immunofluorescent subcellular localization of ZIC3. For each construct, anti-HA (panels A, D, G, J, and M) and DAPI (panels B, E, H, K, and N) staining are shown individually and merged (panels C, F, I, L, and O). The wild-type construct is located in the nucleus (panels A–C); the missense mutation construct P217A is primarily nuclear (panels D–F), whereas H286R is located in the cytoplasm (panels G–I). T323M (panels J–L) and K408X (panels M–O) show evidence of cytoplasmic stippling. The American Journal of Human Genetics  , DOI: ( /380998) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

6 Figure 5 Mutations in ZIC3 alter subcellular localization. The subcellular localization of anti-HA staining is shown graphically for each construct. Nuclear, nuclear and cytoplasmic, and cytoplasmic staining are indicated as percentages. The American Journal of Human Genetics  , DOI: ( /380998) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

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