예쁜 꼬마선충을 이용한 칼시뉴린 조절 유전자에 대한 연구

Abstract

Down syndrome is a genetic disorder caused by addition of extra 21st chromosome. Down syndrome patient often has a lower than average cognitive ability and developmental disabilities. RCAN-1 (a regulator of calcineurin 1) gene is located in the Down syndrome critical region and encodes a regulatory protein to specifically bind to calcineurin, a calcium binding protein phosphatase. In order to understand the functions of rcan-1, we examined a couple of rcan-1 mutants of C. elegans, rcan-1(tm1925, and tm2021) investigating a variety of behavioral phenotypes including chemotaxis and serotonin-mediated egg laying assay. Rcan-1 was expressed in various tissues including pharynx, vulva muscle, and nerve cord. Also, these mutants were resistant to serotonin. Interestingly, rcan-1(tm2021) was defective in AWC-mediated chemotaxis. Mitochondrial size, number, mass and neuronal length were examined since the number and the size of mitochondria were changed in nebula fruit fly mutant in which rcan-1 ortholog-coding gene was not functional. We crossed rcan-1 mutants with calcineurin gain-of-function and loss-of-function mutants to understand genetic interaction between these genes. These studies will provide essential clues to elucidate pathological pathway of Down syndrome and beneficial tools to treat the symptoms of the disorder.