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Phosphoserine Aminotransferase Deficiency: A Novel Disorder of the Serine Biosynthesis Pathway  Claire E. Hart, Valerie Race, Younes Achouri, Elsa Wiame,

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Presentation on theme: "Phosphoserine Aminotransferase Deficiency: A Novel Disorder of the Serine Biosynthesis Pathway  Claire E. Hart, Valerie Race, Younes Achouri, Elsa Wiame,"— Presentation transcript:

1 Phosphoserine Aminotransferase Deficiency: A Novel Disorder of the Serine Biosynthesis Pathway 
Claire E. Hart, Valerie Race, Younes Achouri, Elsa Wiame, Mark Sharrard, Simon E. Olpin, Jennifer Watkinson, James R. Bonham, Jaak Jaeken, Gert Matthijs, Emile Van Schaftingen  The American Journal of Human Genetics  Volume 80, Issue 5, Pages (May 2007) DOI: /517888 Copyright © 2007 The American Society of Human Genetics Terms and Conditions

2 Figure 1 MRI scans from patient 1 showing generalized atrophy and a hypoplastic cerebellar vermis The American Journal of Human Genetics  , DOI: ( /517888) Copyright © 2007 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Mutational analysis of patients 1 and 2. A heterozygous 1-bp deletion in exon 2 and a heterozygous A→C transversion in exon 4, leading to the replacement of the Asp at position 100 with an Ala, were found in the PSAT1 gene. Both patients were also heterozygous for a silent polymorphism in exon 4. In the panels corresponding to exon 2, only the wild-type sequence is shown below each chromatogram. The American Journal of Human Genetics  , DOI: ( /517888) Copyright © 2007 The American Society of Human Genetics Terms and Conditions

4 Figure 3 Alignment of Homo sapiens (Hsap) and E. coli (Eco1) phosphoserine aminotransferase. Identical residues are indicated in black. The effect of the mutations found in the patients on the amino acid sequence is indicated above the alignment. The asparagine residue (Ser138) that interacts with the side chain of Asp100 in E. coli phosphoserine aminotransferase is highlighted in gray. The American Journal of Human Genetics  , DOI: ( /517888) Copyright © 2007 The American Society of Human Genetics Terms and Conditions

5 Figure 4 Model of the position of Asp93 (equivalent of Asp100) and the neighboring residue Ser138 (equivalent of Asn143) in E. coli phosphoserine aminotransferase. The image was drawn with PyMOL software by use of the E. coli phosphoserine aminotransferase coordinates (Protein Data Bank code 1BJN).10 The American Journal of Human Genetics  , DOI: ( /517888) Copyright © 2007 The American Society of Human Genetics Terms and Conditions

6 Figure 5 Purification of recombinant human wild-type and Asp100Ala mutant phosphoserine aminotransferase by chromatography on metal-affinity column. Bacterial extracts were loaded onto a 1-ml His-trapFF affinity column (not shown), which was washed with buffer. Phosphoserine aminotransferase was eluted with a linear imidazole gradient. Fractions were collected as indicated. Samples from the indicated fractions were analyzed by SDS-PAGE. The American Journal of Human Genetics  , DOI: ( /517888) Copyright © 2007 The American Society of Human Genetics Terms and Conditions

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