title: Molecular cloning and characterization of AAAS-V2, a novel splice variant of human AAAS.
abstract: 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).
authors: State Key Laboratory of Genetic Engineering, Institute of Genetics, School of Life Sciences, Fudan University, Shanghai, People's Republic of China.
authors: Xin
authors: X
authors: Li
authors: Chaoneng
authors: C
authors: Ji
authors: Jiefeng
authors: J
authors: Gu
authors: Jian
authors: J
authors: Xu
authors: Zhe
authors: Z
authors: Jin
authors: Liyun
authors: L
authors: Sun
authors: Xianqiong
authors: X
authors: Zou
authors: Yun
authors: Y
authors: Lin
authors: Ruping
authors: R
authors: Sun
authors: Peng
authors: P
authors: Wang
authors: Shaohua
authors: S
authors: Gu
authors: Yumin
authors: Y
authors: Mao
mesh_terms: D017398:Alternative Splicing; D001483:Base Sequence; D002881:Chromosomes, Human, Pair 12; D003001:Cloning, Molecular; D019295:Computational Biology; D005091:Exons; D015723:Gene Library; D006801:Humans; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins; D017434:Protein Structure, Tertiary; D011506:Proteins / Q000032:analysis / Q000737:chemistry / Q000235:genetics*; D012333:RNA, Messenger / Q000032:analysis; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014018:Tissue Distribution
chemical_list: C416506:AAAS protein, human; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins; D011506:Proteins; D012333:RNA, Messenger