HMG-CoA裂解酶（HL）基因外显子2以及外显子2和3的缺失，导致了最近提出的HL（β-α）8 TIM桶状模型中β折叠1和2的缺失。
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.
作者信息
Puisac Beatriz, López-Viñas Eduardo, Moreno Susana, Mir Cecilia, Pérez-Cerdá Celia, Menao Sebastián, Lluch Dolores, Pié Angeles, Gómez-Puertas Paulino, Casals Nuria, Ugarte Magdalena, Hegardt Faustog, Pié Juan
机构信息
Department of Pharmacology and Physiology, School of Medicine, University of Zaragoza, C/Domingo Miral s/n, E-50009 Zaragoza, Spain.
出版信息
Biophys Chem. 2005 Apr 1;115(2-3):241-5. doi: 10.1016/j.bpc.2004.12.031. Epub 2005 Jan 6.
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.-
3-羟基-3-甲基戊二酰辅酶A裂解酶（HL）缺乏症是一种罕见的常染色体隐性遗传疾病，会影响酮体生成和亮氨酸分解代谢。我们报告了一位新的西班牙患者，其携带常见的无义突变G109T（地中海突变）。该突变可产生三种mRNA变体的异常剪接：一种是预期大小的变体，第二种缺失外显子2，第三种缺失外显子2和3。最近我们团队提出了一个包含（β-α）（8）（TIM）桶状结构的人类HL三维模型。我们研究了外显子2缺失以及外显子2和3同时缺失对所提出的HL模型的影响。外显子2跳跃导致β-折叠1丢失，外显子2和3同时跳跃导致α-螺旋1以及β-折叠1和2消失。
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