Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.
Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.
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DOI：
10.1371/journal.pone.0000685
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发表时间：
2007-08-01
期刊：
影响因子：
3.7
通讯作者：
Samuels M
中科院分区：
文献类型：
--
作者：
Orr A;Dubé MP;Marcadier J;Jiang H;Federico A;George S;Seamone C;Andrews D;Dubord P;Holland S;Provost S;Mongrain V;Evans S;Higgins B;Bowman S;Guernsey D;Samuels M
施奈德结晶性角膜营养不良（SCCD，MIM 121800）是一种罕见的常染色体显性遗传疾病，其特征是由脂质局部积聚引起的角膜进行性混浊，在某些情况下与全身性血脂异常相关。尽管先前对SCCD遗传学的研究已经将缺陷基因定位于染色体1p上的1.58 Mbp间隔，但对位置候选基因的详尽测序迄今未能揭示因果突变。我们已经确定了一个大的多代家庭在新斯科舍省影响与SCCD，我们已经证实了连锁的同一区域的染色体1。在我们的家庭密集的精细映射显示了1.3 Mbp的候选间隔重叠，以前报道。在我们的间隔基因测序导致五个推定的因果突变基因UBIAD 1的鉴定，在我们的家庭以及其他四个小家庭的各种地理来源。UBIAD 1编码一种潜在的异戊二烯基转移酶，据报道与载脂蛋白E发生物理相互作用。UBIAD 1可能在细胞内胆固醇生物化学中发挥直接作用，或者可能使调节胆固醇转运和储存的其他蛋白质异戊烯化。
Schnyder crystalline corneal dystrophy (SCCD, MIM 121800) is a rare autosomal dominant disease characterized by progressive opacification of the cornea resulting from the local accumulation of lipids, and associated in some cases with systemic dyslipidemia. Although previous studies of the genetics of SCCD have localized the defective gene to a 1.58 Mbp interval on chromosome 1p, exhaustive sequencing of positional candidate genes has thus far failed to reveal causal mutations. We have ascertained a large multigenerational family in Nova Scotia affected with SCCD in which we have confirmed linkage to the same general area of chromosome 1. Intensive fine mapping in our family revealed a 1.3 Mbp candidate interval overlapping that previously reported. Sequencing of genes in our interval led to the identification of five putative causal mutations in gene UBIAD1, in our family as well as in four other small families of various geographic origins. UBIAD1 encodes a potential prenyltransferase, and is reported to interact physically with apolipoprotein E. UBIAD1 may play a direct role in intracellular cholesterol biochemistry, or may prenylate other proteins regulating cholesterol transport and storage.
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