基本信息:
- 专利标题： 백색 털 형질에 대한 신규 단일염기변이 마커
- 专利标题（英）：Novel single nucleotide variation markers specific for white hair phenotype
- 专利标题（中）：新型单核变种标志白色发型
- 申请号：KR1020120113513 申请日：2012-10-12
- 公开(公告)号：KR1020140049120A 公开(公告)日：2014-04-25
- 发明人： 박종화 , 조윤성 , 김학민 , 조성웅 , 고준수 , 한정훈 , 송상훈
- 申请人： 재단법인 게놈연구재단 , 주식회사 테라젠이텍스
- 申请人地址： 충청북도 청주시 흥덕구 오송읍 오송생명*로 ***-**, ***호(기업연구관*)
- 专利权人： 재단법인 게놈연구재단,주식회사 테라젠이텍스
- 当前专利权人： 재단법인 게놈연구재단,주식회사 테라젠이텍스
- 当前专利权人地址： 충청북도 청주시 흥덕구 오송읍 오송생명*로 ***-**, ***호(기업연구관*)
- 代理人： 특허법인충정
- 主分类号： C12Q1/68
- IPC分类号： C12Q1/68 ; C12N15/11 ; C12N15/52
摘要：
The present invention relates to a novel single nucleotide variation (SNV) marker for a white hair phenotype and, more specifically, to a SNV marker specific to a white hair phenotype, the SNV marker comprising Arg87Gln variation in the tyrosinase (TYR) amino acid sequence and Thr509Ala variation in the dopachrome tautomerase (DCT) amino acid sequence of the white lion species itself having a white hair phenotype, which is searched by performing an interspecific sequence comparison with respect to the amino acid sequences of melanogenesis-related enzymes TYR and DCT of a population of several species. The SNV marker according to the present invention can widely be utilized for the development of therapeutic agents against new target candidates of several albinism diseases including oculocutaneous albinism, the improvement of species through regulation of phenotypes of animals, and the likes.
摘要（中）：
本发明涉及一种用于白发表型的新型单核苷酸变异（SNV）标记，更具体地涉及对白发型特异性的SNV标记，包含酪氨酸酶（TYR）氨基酸序列中的Arg87Gln变异的SNV标记 和具有白色头发表型的白狮种本身的多巴肼互变异构酶（DCT）氨基酸序列中的Thr509Ala变异，通过进行与黑素生成相关酶TYR和DCT的氨基酸序列的种间序列比较来搜索 几种种群。 根据本发明的SNV标记可以广泛地用于治疗几种白色念珠菌病的新靶标候选物的治疗剂，包括眼睛白化病，通过调节动物表型改善物种等。
公开/授权文献:
- KR101480207B1 백색 털 형질에 대한 신규 단일염기변이 마커 公开/授权日：2015-01-28