Missense Mutation in Pseudouridine Synthase 1 (PUS1) Causes Mitochondrial Myopathy and Sideroblastic Anemia (MLASA) Yelena Bykhovskaya, Kari Casas, Emebet.

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Missense Mutation in Pseudouridine Synthase 1 (PUS1) Causes Mitochondrial Myopathy and Sideroblastic Anemia (MLASA) Yelena Bykhovskaya, Kari Casas, Emebet Mengesha, Aida Inbal, Nathan Fischel-Ghodsian The American Journal of Human Genetics Volume 74, Issue 6, Pages 1303-1308 (June 2004) DOI: 10.1086/421530 Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 1 Homozygous mutation in PUS1 causes MLASA. A, Map of PUS1 with exons in dark blue. The start codon and mutated position 656 in exon3 are identified. B, Two pedigrees of MLASA families shown with their sequencing and RFLP results for the mutation at position 656 in the PUS1 gene. Affected individuals are indicated by dark blue symbols. The mutation abolishes the restriction site for NciI. The American Journal of Human Genetics 2004 74, 1303-1308DOI: (10.1086/421530) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 2 Evolutionary conservation of the human 116R (arginine) residue in the eukaryotic and prokaryotic homologues of PUS1p. Percent identity was calculated by ALIGN (Pearson et al. 1997). GenBank accession numbers of the sequences, in the order of appearance (top to bottom): Homo sapiens NP079491, Mus musculus NM019700, Rattus norvegicus XM222267, Bos taurus CB440130, Danio rerio BC050502, Drosophila melanogaster NM142642, Caenorhabditis elegans T26253, Saccharomyces cerevisiae Q12211, S. cerevisiae P53167, C. elegans Q09524, S. cerevisiae P31115, Methanothermobacter thermautotrophicus O26928, Arabidopsis thaliana O22928, Escherichia coli P07649, Clostridium perfringens Q8xlq0, Haemophilus influenzae p45291, Clostridium muridarum Q9PJT0. The American Journal of Human Genetics 2004 74, 1303-1308DOI: (10.1086/421530) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 3 Quantitative analysis of PUS1 expression in different tissues. dCt indicates the difference between Ct (PUS1) and Ct (GAPDH). The American Journal of Human Genetics 2004 74, 1303-1308DOI: (10.1086/421530) Copyright © 2004 The American Society of Human Genetics Terms and Conditions