人类alpha-N-acetylgalactosaminidase-molecular克隆、核苷酸序列和全长cDNA表达。同源性与人类alpha-galactosidase表明演变从一个共同祖先的基因。
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王,主教DF, Desnick RJ
人类alpha-N-acetylgalactosaminidase-molecular克隆、核苷酸序列和全长cDNA表达。同源性与人类alpha-galactosidase表明演变从一个共同祖先的基因。
生物化学杂志。1990年12月15日;265 (35):21859 - 66。
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2174888 (在PubMed]
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人类alpha-N-acetylgalactosaminidase (alpha-GalNAc,提到过3.2.1.49),溶酶体glycohydrolase劈开alpha-N-acetylgalactosaminyl glycoconjugates半个,是由一种本地化到22号染色体的基因编码问题- - - - - qt。的缺乏活动alpha-GalNAc是辛德勒的酶缺陷疾病,一种遗传neuroaxonal萎缩症。隔离一个全长cDNA、酶从人类肺纯化同质性,129年互不重叠的N末端氨基酸microsequencing测定和七个胰蛋白酶的缩氨酸,和四个合成寡核苷酸混合物被用来屏幕人类成纤维细胞cDNA图书馆。全长cDNA, pAGB-3隔绝胎盘λgt11 cDNA文库,2158碱基对(bp)与一个开放阅读框,插入一个氨基酸序列预测,129年共线的所有microsequenced纯化酶的残留。pAGB-3插入了344 - bp 5 '非翻译区,1236年英国石油公司开放阅读框编码411个氨基酸,514 - bp 3 '非翻译区,和一个64 - bp poly (a)。17种氨基酸的信号肽序列,以及六N-glycosylation网站预测。pAGB-3 cDNA subcloned进p91023 (B)哺乳动物表达载体和人类alpha-GalNAc活动是瞬变COS-1细胞表达,展示功能完整性的全长cDNA。北方杂交mRNA分析显示两个成绩单大约3.6和2.2个碱基(kb),和引物延伸研究表明帽网站2.2核苷酸-347 kb的成绩单。3.6 kb cDNA (pAGB-35)分离;3598 - bp pAGB-35插入相同的2.2 kb插入,但额外的5 '和3 '非翻译包括第二下游聚腺苷酸化信号在核苷酸序列3100 - 3105。 Isolation of a genomic clone, gAGB-1, and sequencing the 2048-bp region including pAGB-3 revealed a 1754-bp intron between codons 319 and 320, which also was the site of a 70-bp insertion and a45-bp deletion in other cDNA clones. Notably, the alpha-GalNAc cDNA had remarkable amino acid homology with the human alpha-galactosidase A (alpha-Gal A) cDNA suggesting the evolutionary relatedness of these genes. The alpha-GalNAc cDNA had 46.9-64.7% amino acid identity in sequences (codons 1-319) corresponding to alpha-Gal A exons 1 through 6, while the comparable exon 7 sequence (pAGB-3 codons 320-411) had only 15.8% homology with numerous gaps.(ABSTRACT TRUNCATED AT 400 WORDS)