Li Xin, Ji Chaoneng, Gu Jiefeng, Xu Jian, Jin Zhe, Sun Liyun, Zou Xianqiong, Lin Yun, Sun Ruping, Wang Peng, Gu Shaohua, Mao Yumin
State Key Laboratory of Genetic Engineering, Institute of Genetics, School of Life Sciences, Fudan University, Shanghai, People's Republic of China.
Mol Biol Rep. 2005 Jun;32(2):127-31. doi: 10.1007/s11033-004-6939-9.
Triple-A syndrome (MIM 231550; also known as Allgrove syndrome) is an autosomal recessive disorder characterized by adrenocorticotropin hormone (ACTH)-resistant adrenal insufficiency, achalasia of the oesophageal cardia and alacrima. Much initial molecular analysis supported that Triple-A syndrome was caused by mutations in AAAS, a WD-repeat protein gene. Here we report cloning and characterization of a novel splice variant of human AAAS, which we named AAAS-v2, which is located on the human chromosome 12p13. The cDNA is 1703 bp, encoding a 513-amino acid polypeptide, which contains three WD40 domains, one less than the original which we called AAAS-v1 (Gen Bank: NM_015665.3). RT-PCR analysis in our work revealed that AAAS-v2 and AAAS-v1 were ubiquitously detected in human multiple tissue cDNA (MTC) panels (CLONTECH).
三 A 综合征（MIM 231550；也称为奥尔格罗夫综合征）是一种常染色体隐性疾病，其特征为促肾上腺皮质激素（ACTH）抵抗性肾上腺功能不全、食管贲门失弛缓症和无泪症。许多最初的分子分析支持三 A 综合征是由 WD 重复蛋白基因 AAAS 中的突变引起的。在此，我们报告了人类 AAAS 一种新型剪接变体的克隆和特征分析，我们将其命名为 AAAS-v2，它位于人类染色体 12p13 上。该 cDNA 为 1703 碱基对，编码一个 513 个氨基酸的多肽，其包含三个 WD40 结构域，比我们称为 AAAS-v1（基因库：NM_015665.3）的原始结构域少一个。我们工作中的逆转录聚合酶链反应（RT-PCR）分析显示，在人类多种组织 cDNA（MTC）板（CLONTECH）中普遍检测到 AAAS-v2 和 AAAS-v1。
