Biophys Chem. 2005 Apr 1;115(2-3):241-5. Epub 2005 Jan 6.

Skipping of exon 2 and exons 2 plus 3 of HMG-CoA lyase (HL) gene produces the loss of beta sheets 1 and 2 in the recently proposed (beta-alpha)8 TIM barrel model of HL.

Puisac B, López-Viñas E, Moreno S, Mir C, Pérez-Cerdá C, Menao S, Lluch D, Pié A, Gómez-Puertas P, Casals N, Ugarte M, Hegardt F, Pié J.

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Department of Pharmacology and Physiology, School of Medicine, University of Zaragoza, C/Domingo Miral s/n, E-50009 Zaragoza, Spain.

Abstract

HMG-CoA lyase (HL) deficiency is a rare autosomal recessive genetic disorder that affects ketogenesis and leucine catabolism. We report a new Spanish patient who bears the frequent nonsense mutation G109T (Mediterranean mutation). This mutation can produce aberrant splicing with three mRNA variants: one of the expected size, the second with deletion of exon 2, and the third with deletion of exons 2 and 3. Recently our group proposed a 3D model for human HL containing a (beta-alpha)(8) (TIM) barrel structure. We have studied the effect of the deletions of exon 2 and exons 2 plus 3 on the proposed HL model. Exon 2 skipping led to the loss of beta-sheet 1, and the skipping of exons 2 and 3 caused the disappearance of alpha helix 1 and beta-sheets 1 and 2.-

PMID:: 15752612; [PubMed - indexed for MEDLINE]

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A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients. [Arch Biochem Biophys. 1998]
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Skipping of exon 2 and exons 2 plus 3 of HMG-CoA lyase (HL) gene produces the lo...
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Biophys Chem. 2005 Apr 1 ;115(2-3):241-5. Epub 2005 Jan 6 .

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