谷氨酸甲氨基转移酶缺乏症候选基因21q22.3的克隆与鉴定

A Solans, X Estivill, S de la Luna
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引用次数: 30

摘要

我们发现了一个新的人类基因FTCD,它位于染色体21q22.3上,编码甲酰基氨基转移酶环脱氨酶,这是一种将组氨酸分解代谢与叶酸代谢联系起来的中间代谢酶。主cDNA编码一个含有541个氨基酸残基的蛋白,与猪FTCD有84%的同源性。其他几个cdna已经被分离出来,这可能是由不同的剪接事件产生的,并且有可能编码三种不同的蛋白质同种异构体。该基因在人类胎儿和成人肝脏中高度表达。这两个FTCD蛋白结构域与真核细菌基因组中两个不同的开放阅读框显示出高度的序列相似性,表明真核生物的FTCD是通过基因融合事件出现的。谷氨酸甲酰氨基转移酶途径的缺陷已被证实,该缺陷被认为是一种常染色体隐性遗传特征。本文报道的序列可能有助于确定谷氨酸甲酰氨基转移酶缺乏症的主要缺陷和建立分子诊断。
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Cloning and characterization of human FTCD on 21q22.3, a candidate gene for glutamate formiminotransferase deficiency.

We have identified a new human gene, FTCD, which maps to chromosome 21q22.3 and encodes the enzyme formiminotransferase cyclodeaminase, an intermediate metabolism enzyme that links histidine catabolism to folate metabolism. The major cDNA encodes a protein containing 541 amino acid residues and shows 84% identity with porcine FTCD. Several other cDNAs have been isolated, which may result from alternative splicing events and have the potential to code for three different protein isoforms. The gene is highly expressed in human fetal and adult liver. The two FTCD protein domains show high sequence similarity to two distinct open reading frames from eubacterial genomes, suggesting that eukaryotic FTCD appeared through a gene fusion event. Defects in the glutamate formiminotransferase pathway have been documented, and the deficiency is presumed to be inherited as an autosomal recessive trait. The sequence reported here may be helpful in identifying the primary defect in glutamate formiminotransferase deficiency and establishing a molecular diagnosis.

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