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Hyperchlorhidrosis Caused by Homozygous Mutation in CA12, Encoding Carbonic Anhydrase XII  Maya Feldshtein, Suliman Elkrinawi, Baruch Yerushalmi, Barak.

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Presentation on theme: "Hyperchlorhidrosis Caused by Homozygous Mutation in CA12, Encoding Carbonic Anhydrase XII  Maya Feldshtein, Suliman Elkrinawi, Baruch Yerushalmi, Barak."— Presentation transcript:

1 Hyperchlorhidrosis Caused by Homozygous Mutation in CA12, Encoding Carbonic Anhydrase XII 
Maya Feldshtein, Suliman Elkrinawi, Baruch Yerushalmi, Barak Marcus, Daniela Vullo, Hila Romi, Rivka Ofir, Daniel Landau, Sara Sivan, Claudiu T. Supuran, Ohad S. Birk  The American Journal of Human Genetics  Volume 87, Issue 5, Pages (November 2010) DOI: /j.ajhg Copyright © 2010 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Pedigree of the Affected Israeli-Bedouin Kindred
The pedigree is compatible with autosomal-recessive heredity. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2010 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Fine Mapping of the Chromosome 15 Locus
Partial pedigree of the large Israeli-Bedouin kindered and disease-haplotype segregation. The two lines indicate a crossing over event. Disease associated haplotype shown in boxes. Markers chr15: and rs define the minimal homozygosity locus associated with the disease (Individual IV:15). The affected haplotype is shaded. Numbers below symbols correspond to the position of individuals within the pedigree (see Figure 1). Blank spaces indicate non-genotyped markers. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2010 The American Society of Human Genetics Terms and Conditions

4 Figure 3 The c.427G>A (p.Glu143Lys) Mutation in Exon 4 of CA12, and CA12 Expression Sequence analysis is shown for an unaffected individual (A), an obligatory carrier (B), and an affected individual (C). (D) ConSeq analysis for the p.Glu143Lys residue (marked with an arrow), demonstrating conservation grade 9 (highly conserved). (E) RT-PCR demonstrating that CA12 (as well as actin control) are transcribed in normal human foreskin (1,2) and arm skin (3,4). PCR primer sequences available upon request. Lane 5 = size marker. Lanes 6,7 represent negative controls for CA12 and actin PCR reactions, with no cDNA template. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2010 The American Society of Human Genetics Terms and Conditions

5 Figure 4 Inhibition Constants for Anionic Inhibitors of Human Wild-Type and Mutant hCA XII, for the CO2 Hydration Reaction, at 20°C14 The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2010 The American Society of Human Genetics Terms and Conditions

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