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Mouse Palmitoyl Protein Thioesterase: Gene Structure and Expression of cDNA

机译:小鼠棕榈酰蛋白硫酯酶:cDNA的基因结构和表达

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摘要

Palmitoyl protein thioesterase (PPT) is the defective enzyme in infantile neuronal ceroid lipofuscinosis (INCL), which is a recessively inherited, progressive neurodegenerative disorder. We present here the cloning, chromosomal mapping, genomic structure, and the expression of the cDNA of mouse PPT. The mouse PPT gene spans >21 kb of genomic DNA and contains nine exons with a coding sequence of 918 bp. Fluorescence in situ hybridization to metaphase chromosomes localized the mouse PPT gene to the chromosome 4 conserved syntenic region with human chromosome 1p32 where the human PPT is located. PPT is expressed widely in a variety of mouse tissues. The mouse PPT cDNA is conserved highly with the human and rat PPT both at the nucleotide and amino acid sequence level. Transient expression of mouse PPT in COS-1 cells yielded a 38/36-kD differentially glycosylated polypeptide that was also secreted into culture media. Immunofluorescence analysis of transiently transfected HeLa cells indicated lysosomal localization of mouse PPT. Based on the high conservation of the gene and polypeptide structure as well as similar processing and intracellular localization, the function of PPT in mouse and human are likely to be very similar.[The sequence data described in this paper have been submitted to GenBank under accession no. AF071O25.]
机译:棕榈酰蛋白硫酯酶(PPT)是婴儿神经元类固醇脂褐藻病(INCL)中的一种缺陷酶,它是一种隐性遗传,进行性神经退行性疾病。我们在这里介绍了小鼠PPT的克隆,染色体作图,基因组结构和cDNA的表达。小鼠PPT基因跨度超过21 kb的基因组DNA,并包含9个外显子,编码序列为918 bp。与中期染色体的荧光原位杂交将小鼠PPT基因定位到人类PPT所在的人类1p32染色体的4号保守保守区域。 PPT在多种小鼠组织中广泛表达。小鼠PPT cDNA在核苷酸和氨基酸序列水平上与人和大鼠PPT高度保守。小鼠PPT在COS-1细胞中的瞬时表达产生了38 / 36-kD差异糖基化多肽,该多肽也被分泌到培养基中。瞬时转染的HeLa细胞的免疫荧光分析表明小鼠PPT的溶酶体定位。基于基因和多肽结构的高度保守性以及相似的加工和细胞内定位,PPT在小鼠和人类中的功能可能非常相似。[本文描述的序列数据已提交给GenBank。没有。 AF071O25。]

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