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Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood

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Presentation on theme: "Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood"— Presentation transcript:

1 Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood
Avraham Zeharia, Avraham Shaag, Riekelt H. Houtkooper, Tareq Hindi, Pascale de Lonlay, Gilli Erez, Laurence Hubert, Ann Saada, Yves de Keyzer, Gideon Eshel, Frédéric M. Vaz, Ophry Pines, Orly Elpeleg  The American Journal of Human Genetics  Volume 83, Issue 4, Pages (October 2008) DOI: /j.ajhg Copyright © 2008 The American Society of Human Genetics Terms and Conditions

2 Figure 1 The Family Pedigree and the Haplotypes along the Critical Region on Chromosome 2 Patients' symbols are filled. Numbered symbols represent individuals whose DNA samples were available for analysis. The polymorphic microsatellite markers and their chromosomal locations (in Mb) are given in the upper left panel. Only siblings whose DNA samples were available were included in this figure. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Patient 2572, Age 10 Years Note Normal Fat Distribution
The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

4 Figure 3 Triacylglycerol and Phospholipid Biosynthetic Pathway
Abbreviations are as follows: AGPAT, 1-acyl-sn-glycero-3-phosphate acyltransferase; DAG, diacylglycerol; DGAT, diacylglycerol acyltransferase; Glycerol-3-P, glycerol-3-phosphate; LPC, lyso-phosphatidylcholine; LPE, lyso-phosphatidylethanolamine; PLA2, phospholipase A2; LPEAT, lysophosphatidylethanolamine acyltransferase; LPCAT, lysophosphatidylcholine acyltransferase; LIPIN, phosphatidic acid phosphatase; MLCL, Monolyso-cardiolipin; PC, phosphatidylcholine; PE, phosphatidylethanolamine; PI(4,5)P2, phosphatidylinositol 4,5-diphosphate; TAG, triacylglycerol; TAZ, 1-palmitoyl-2-linoleoyl-phosphatidylcholine:monolysocardiolipin linoleoyltransferase. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

5 Figure 4 Human LPIN1 but Not LPIN1- E769G Can Partially Complement a Δpah1 Yeast Strain Wild-type (WT-W303) and Δ pah1 strains harboring an empty plasmid (Yep51) or plasmids encoding derivatives of the normal human LPIN1 (YEp-LPIN1), the mutant human LPIN1 (YEp-E769G or Yep-P610S) or the normal yeast PAH1 (pGH316) were grown overnight at 30°C in glucose medium. Cultures at a density of 4 × 107 cells/ml were serially diluted at 10-fold intervals (numbered 1, 2, 3 and 4 for 101, 102, 103 and 104 dilutions, respectively) and 10 μl of each was spotted onto plates containing 2% glucose or 2% glycerol. The cells on glucose and glycerol medium were incubated at 30°C for 3 and 7 days, respectively. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

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