Title |
Molecular cloning and characterization of AAAS-V2, a novel splice variant of human AAAS
|
---|---|
Published in |
Molecular Biology Reports, June 2005
|
DOI | 10.1007/s11033-004-6939-9 |
Pubmed ID | |
Authors |
Xin Li, Chaoneng Ji, Jiefeng Gu, Jian Xu, Zhe Jin, Liyun Sun, Xianqiong Zou, Yun Lin, Ruping Sun, Peng Wang, Shaohua Gu, Yumin Mao |
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). |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 1 | 7% |
Unknown | 13 | 93% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 3 | 21% |
Student > Master | 3 | 21% |
Other | 2 | 14% |
Professor | 2 | 14% |
Student > Doctoral Student | 1 | 7% |
Other | 2 | 14% |
Unknown | 1 | 7% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 5 | 36% |
Biochemistry, Genetics and Molecular Biology | 3 | 21% |
Medicine and Dentistry | 3 | 21% |
Engineering | 1 | 7% |
Unknown | 2 | 14% |