人釉原蛋白基因的克隆与特性分析

Cloning and characterization of the human ameloblastin gene.

作者信息

Toyosawa S, Fujiwara T, Ooshima T, Shintani S, Sato A, Ogawa Y, Sobue S, Ijuhin N

机构信息

Department of Oral Pathology, Osaka University Faculty of Dentistry, 1-8 Yamadaoka, Suita, 565-0871, Osaka, Japan.

出版信息

Gene. 2000 Oct 3;256(1-2):1-11. doi: 10.1016/s0378-1119(00)00379-6.

DOI:10.1016/s0378-1119(00)00379-6

PMID:11054529

Abstract

We isolated the full-length human ameloblastin (AMBN) cDNA clone using reverse transcription-polymerase chain reaction (RT-PCR) methods. Sequence analysis of the AMBN cDNA revealed an open reading frame of 1341bp encoding a 447-amino-acid protein. Comparison with pig, cattle, rat, and mouse AMBN sequences showed a high amino acid sequence similarity and led to the identification of a novel 78bp (26 amino acids) insert resulting from internal sequence duplication. By DNA analysis of a human genomic clones, the AMBN gene was shown to consist of 13 exons and a novel 78bp segment, which proved to comprise two small exons. Human ameloblastomas express AMBN transcripts that contain some mutations.

摘要

我们采用逆转录-聚合酶链反应（RT-PCR）方法分离出了人釉原蛋白（AMBN）全长cDNA克隆。对AMBN cDNA的序列分析揭示了一个1341bp的开放阅读框，其编码一个含447个氨基酸的蛋白质。与猪、牛、大鼠和小鼠的AMBN序列比较显示出高度的氨基酸序列相似性，并鉴定出一个由内部序列重复产生的78bp（26个氨基酸）的新插入片段。通过对人类基因组克隆的DNA分析，显示AMBN基因由13个外显子和一个新的78bp片段组成，该片段被证明包含两个小外显子。人成釉细胞瘤表达含有一些突变的AMBN转录本。