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Mutation in Rab3 GTPase-Activating Protein (RAB3GAP) Noncatalytic Subunit in a Kindred with Martsolf Syndrome  Irene A. Aligianis, Neil V. Morgan, Marina.

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Presentation on theme: "Mutation in Rab3 GTPase-Activating Protein (RAB3GAP) Noncatalytic Subunit in a Kindred with Martsolf Syndrome  Irene A. Aligianis, Neil V. Morgan, Marina."— Presentation transcript:

1 Mutation in Rab3 GTPase-Activating Protein (RAB3GAP) Noncatalytic Subunit in a Kindred with Martsolf Syndrome  Irene A. Aligianis, Neil V. Morgan, Marina Mione, Colin A. Johnson, Elisabeth Rosser, Raoul C. Hennekam, Gill Adams, Richard C. Trembath, Daniela T. Pilz, Neil Stoodley, Anthony T. Moore, Steve Wilson, Eamonn R. Maher  The American Journal of Human Genetics  Volume 78, Issue 4, Pages (April 2006) DOI: /502681 Copyright © 2006 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Brain expression patterns of rab3gap1 and rab3gap2 in zebrafish. In the forebrain of 3–4-wk-old zebrafish, the transcripts of both rab3gap subunits are largely coexpressed in the dorsal (predominantly in Dl [A and B]) and ventral (Vv [A and B]) telencephalon, in the posterior region of the dorsal telencephalon (Dp [C and D]), and in the POA (C and D). In addition, rab3gap1 is strongly expressed throughout the hypothalamic region (E), whereas rab3gap2 expression in the hypothalamus is restricted to the ventral zone (Hv [F]) and the pituitary (Pit [F]). The American Journal of Human Genetics  , DOI: ( /502681) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Eye expression patterns of rab3gap1 and rab3gap2 in zebrafish. In the eye, rab3gap1 (A) is strongly expressed throughout the INL and in the CM and is only weakly expressed in the photoreceptors (arrows; outer nuclear layer [ONL]), whereas the expression of rab3gap2 (B) is confined to the remnants of the CM, the proliferative zone of the retina. The American Journal of Human Genetics  , DOI: ( /502681) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

4 Figure 3 Pedigree of family and fine mapping for markers flanking the RAB3GAP2 gene (which is located between and bp) on chromosome 1. The parents are in generation III, and the affected siblings are in generation IV: IV-1, IV-2, and IV-3. The American Journal of Human Genetics  , DOI: ( /502681) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

5 Figure 4 The 3154G→T mutation in RAB3GAP2. A, Mutations in genomic DNA in RAB3GAP2, shown by sequence traces (nucleotide exchange) from affected individuals (top), carrier parents (middle), and healthy control individuals (bottom). B, An agarose gel showing the RT-PCR products, with the two affected individuals having a smaller transcript than the controls. The parents of subject IV-1 have a normal size and shortened product, in keeping with their carrier status. C, Location of the donor splice-site mutation and sequence chromatogram from the smaller transcript in subject IV-1, showing that exon 28 is skipped. The mutation is shown in red. The American Journal of Human Genetics  , DOI: ( /502681) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

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