结构组织和人类的完整序列alpha-N-acetylgalactosaminidase基因同源性与alpha-galactosidase基因从一个共同祖先进化基因提供了证据。
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王,Desnick RJ
结构组织和人类的完整序列alpha-N-acetylgalactosaminidase基因同源性与alpha-galactosidase基因从一个共同祖先进化基因提供了证据。
基因组学。1991年5月,10 (1):133 - 42。
- PubMed ID
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1646157 (在PubMed]
- 文摘
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人类alpha-N-acetylgalactosaminidase (alpha-GalNAc;EC 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。这种酶的缺乏活动导致辛德勒的疾病,一种常染色体隐性障碍表现为尿排泄的增加糖肤包含alpha-N-acetylgalactosaminyl根和低聚糖。最近,3.6 kb长篇alpha-GalNAc cDNA序列被隔离起来,发现有显著的核苷酸和预测氨基酸同源性(分别为46.9%和55.8)人类alpha-galactosidase (alpha-Gal)互补。调查的亲缘进化两个糖苷酶,alpha-GalNAc染色体基因分离和特征。筛选的人类基因组DNA粘粒库导致克隆的识别,gAGB-1,大约35 kb插入包含整个alpha-GalNAc基因。一个大约15 kb EcoRI gAGB-1碎片,包含完整的3.6 kb cDNA序列,是消化和subcloned片段测序方向。13709 - bp alpha-GalNAc基因有9个外显子,从95年到2028年英国石油公司和intronic序列304 - 2684个基点。所有外显子/内含子连接符合GT / AG共识的规则。1.4 kb 5的旁侧序列分析显示三个Sp1和两个CAAT-like启动子元素。 This region was GC-rich (56%), but no HTF island was identified. The gene contained six Alu-repetitive elements, all in the reverse orientation. Comparison of the structural organization of the alpha-GalNAc and the alpha-Gal A genes revealed that all six alpha-Gal A introns were identically positioned in the homologous alpha-GalNAc exonic sequence. Two additional introns, 1 and 8, were identfied in the alpha-GalNAc gene. The predicted amino acid sequences of alpha-GalNAc exons 2 through 7 and those of corresponding alpha-Gal A exons 1 through 6 were 46.2 to 62.7% identical. In contrast, there was little, if any, similarity between the deduced amino acid sequences of alpha-Gal A exon 7 and alpha-GalNAc exons 8 and 9. The remarkable amino acid identity and the identical exonic interruption by six introns of the alpha-GalNAc and alpha-Gal A genes suggest that this region in both genes is evolutionarily related and arose through duplication and divergence from a common ancestral gene.