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Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome 

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Presentation on theme: "Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome "— Presentation transcript:

1 Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome  Ruth Belostotsky, Efrat Ben-Shalom, Choni Rinat, Rachel Becker-Cohen, Sofia Feinstein, Sharon Zeligson, Reeval Segel, Orly Elpeleg, Suheir Nassar, Yaacov Frishberg  The American Journal of Human Genetics  Volume 88, Issue 2, Pages (February 2011) DOI: /j.ajhg Copyright © 2011 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Implementation of SNP Microarray Analysis for the Identification of Mutation in SARS2 (A) Pedigrees of the families. DNA samples from individuals marked with asterisk were analyzed for the c.1169A>G mutation in SARS2. (B) Homozygosity mapping of DNA derived from patients F1:III-1 and F1:III-6. Detection of a common homozygous region on chromosome 19 by Genotyping Console (left) and KinSNP (right) software. SARS2 is located at the very end of the shared fragment. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2011 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Electron Micrograph of Renal Tissue Obtained from Patient F1:III-1 Abnormal enlarged mitochondria with paracrystalline inclusions in a portion of the tubular epithelial cells (red arrows). Normal mitochondrion is marked in a blue arrow. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2011 The American Society of Human Genetics Terms and Conditions

4 Figure 3 Mutation Analysis of DNA Samples from Patients, Carriers, and Normal Individual and Confirmation of the Conservation among Species of the Mutated Amino Acid in SARS2 (A) DNA sequence identifying the c.1169A>G mutation in SARS2. (B) Restriction enzyme analysis with BsaJI: this mutation introduces a restriction site for this enzyme, which results in the digestion of the 166 bp oligonucleotide into 94 bp and 72 bp fragments. (C) Multiple sequence alignment of SARS2 in various species with ClustalW program. In red: the amino acid corresponding to the mutation in human DNA c.1169A>G (p.Asp390Gly). The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2011 The American Society of Human Genetics Terms and Conditions

5 Figure 4 Comparison of the Secondary Structures of E. coli tRNASer with Two Human Mitochondrial tRNAsSer Human tRNASerAGY (A) and tRNASerUCN (B) are shown. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2011 The American Society of Human Genetics Terms and Conditions

6 Figure 5 Quantitative Analysis of tRNASerAGY and tRNASerUCN Amino Acylation in EBV-Transformed Lymphocyte Cultures (A) Northern blot: equal amounts (2 μg) of total RNA purified from normal and patient-derived lymphocyte lines were separated at 4°C on an acidic 6.5% polyacrylamide-7 M urea gel. Hybridization with 32P-labeled probes for tRNASerAGY and tRNASerUCN. The blots were then stripped and rehybridized with probes for MT-tRNALeu. One representative northern hybridization, out of three experiments, is presented. DA denotes deacylated tRNA. (B) Histogram presentation of the data from (A). The intensity of hybridization signals was normalized by the signal of loading control MT-tRNALeu and is presented as percentage of the signal of the corresponding probe in the control. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2011 The American Society of Human Genetics Terms and Conditions

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