KR100924183B1 - 신규 섬유아세포 성장 인자 (fgf23) 및 그의 이용 방법 - Google Patents
신규 섬유아세포 성장 인자 (fgf23) 및 그의 이용 방법 Download PDFInfo
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- KR100924183B1 KR100924183B1 KR1020037000821A KR20037000821A KR100924183B1 KR 100924183 B1 KR100924183 B1 KR 100924183B1 KR 1020037000821 A KR1020037000821 A KR 1020037000821A KR 20037000821 A KR20037000821 A KR 20037000821A KR 100924183 B1 KR100924183 B1 KR 100924183B1
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Abstract
Description
전체 이름 | 3문자 코드 | 1문자 코드 |
아스파르트산 | Asp | D |
글루탐산 | Glu | E |
리신 | Lys | K |
아르기닌 | Arg | R |
히스티딘 | His | H |
티로신 | Tyr | Y |
시스테인 | Cys | C |
아스파라긴 | Asn | N |
글루타민 | Gln | Q |
세린 | Ser | S |
쓰레오닌 | Thr | T |
글리신 | Gly | G |
알라닌 | Ala | A |
발린 | Val | V |
루이신 | Leu | L |
이소루이신 | Ile | I |
메티오닌 | Met | M |
프롤린 | Pro | P |
페닐알라닌 | Phe | F |
트립토판 | Trp | W |
Acc 번호 | 유전자 기호 | ORF(aa) | 엑손 | pter-qter | 다형성 |
M90813 | CCND2 | 289 | |||
AJ272206* | C12orf5 | 270 | 6 | 정방향 | 716C/T(T293M) |
AF263537 | FGF23 | 251 | 3 | 역방향 | |
X63454 | FGF6 | 198 | 3 | 역방향 | |
AJ272205 | C12orf4 | 552 | 14 | 역방향 | |
AF006259 | PIR51 | 335 | 9 | 정방향 | |
AF263541* | DYRK4 | >541 | >11 | 정방향 | 351C/T(V117V) 632A/G(M211S) 1041C/T(A347A) |
AF093408* | AKAP3 | 853 | 5 | 역방향 | |
AF050641 | NDUFA9 | 377 | 11 | 정방향 | |
AJ271385* | GALNT8 | 637 | 11 | 정방향 | 800A/G(E267G) |
X17622 | KCNA6 | 529 | 1 | 정방향 | |
L02750 | KCNA1 | 495 | 1 | 정방향 |
프라이머 명/서열 | 프라이머 방향 | 서열 (5'-3') |
5'FGF23 프라이머 (서열 6) | 정방향 | CGGGATCCACGATGTTGG |
3'FGF23 프라이머 (서열 7) | 역방향 | GGAATTCCTAGATGAACT |
R176Q (G527A) (서열 8) | 정방향 | ATACCACGGCAGCACAC |
R176Q (G527A) (서열 9) | 역방향 | CCGGGTGTGCTGCCGTG |
R179W (C535T) (서열 10) | 정방향 | GCGGCACACCTGGAGCG |
R179W (C535T) (서열 11) | 역방향 | TCGGCGCTCCAGGTGTGC |
R179Q (G536A) (서열 12) | 정방향 | CGGCACACCCAGAGCGC |
R179W (G536A) (서열 13) | 역방향 | CTCGGCGCTCTGGGTGTG |
Claims (94)
- 섬유아세포 성장 인자-23(FGF23)을 코딩하는 서열 1 또는 서열 3의 단리된 핵산.
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- DSMZ 기탁 번호 제DSM 13530호로 기탁된 서열 1에 해당하는 단리된 핵산.
- 제1항에 있어서, myc 태그 폴리펩티드, 글루타티온-S-트랜스퍼라제 태그 폴리펩티드, 녹색 형광 단백질 태그 폴리펩티드, myc-피루베이트 키나제 태그 폴리펩티드, His6 태그 폴리펩티드, 인플루엔자 바이러스 헤마글루티닌 태그 폴리펩티드, 플래그 태그 폴리펩티드 및 말토스 결합 단백질 태그 폴리펩티드로 이루어진 군으로부터 선택되는, 공유적으로 연결된 태그 폴리펩티드를 코딩하는 핵산을 추가로 포함하는 단리된 핵산.
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- 제1항에 있어서, 작동가능하게 연결된 프로모터/조절 서열을 지정하는 핵산을 추가로 포함하는 단리된 핵산.
- 제1항의 단리된 핵산을 포함하는 벡터.
- 제8항에 있어서, 작동가능하게 연결된 프로모터/조절 서열을 지정하는 핵산을 추가로 포함하는 벡터.
- 제1항의 단리된 핵산을 포함하는 재조합 세포.
- 제8항의 벡터를 포함하는 재조합 세포.
- 섬유아세포 성장 인자-23(FGF23)을 코딩하는 서열 1 또는 서열 3의 핵산, 또는 서열 2의 아미노산 176(아르기닌)을 코딩하는 핵산에서의 돌연변이 및 서열 2의 아미노산 179(아르기닌)를 코딩하는 핵산에서의 돌연변이로 이루어진 군으로부터 선택되는 돌연변이를 갖는 상기 핵산의 돌연변이체에 상보적인 단리된 핵산.
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- 제12항의 단리된 핵산을 포함하는 벡터.
- 제14항에 있어서, 작동가능하게 연결된 프로모터/조절 서열을 지정하는 핵산을 추가로 포함하는 벡터.
- 제12항의 단리된 핵산을 포함하는 재조합 세포.
- 섬유아세포 성장 인자-23(FGF23)을 코딩하는 서열 1 또는 서열 3의 핵산, 또는 서열 2의 아미노산 176(아르기닌)을 코딩하는 핵산에서의 돌연변이 및 서열 2의 아미노산 179(아르기닌)를 코딩하는 핵산에서의 돌연변이로 이루어진 군으로부터 선택되는 돌연변이를 갖는 상기 핵산의 돌연변이체를 포함하는 유전자변형 (transgenic) 비인간 포유동물.
- 서열 2 또는 서열 4의 아미노산 서열을 갖는, 단리된 섬유아세포 성장 인자-23(FGF23) 폴리펩티드.
- 서열 2의 아미노산 176(아르기닌)에서의 돌연변이 및 서열 2의 아미노산 179(아르기닌)에서의 돌연변이로 이루어진 군에서 선택되는 돌연변이를 갖는, 단리된 섬유아세포 성장 인자-23(FGF23) 폴리펩티드의 돌연변이체.
- 제18항의 폴리펩티드에 특이적으로 결합하는 항체.
- 제20항에 있어서, 폴리클로날 항체, 모노클로날 항체, 인간화 항체, 키메라 항체 및 합성 항체로 이루어진 군으로부터 선택되는 항체.
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- (a) 서열 2 또는 서열 4의 섬유아세포 성장 인자-23 (FGF23)의 생물학적 활성을 갖는 단리된 단백질이 발현되는 조건하에 제11항의 재조합 세포를 배양하는 단계; 및 (b) 상기 단백질을 회수하는 단계를 포함하는, 상기 단백질의 제조 방법.
- 섬유아세포 성장 인자-23(FGF23)을 코딩하는 서열 1 또는 서열 3의 핵산에 상보적인 핵산, 및 사용지침을 포함하는, 포유동물의 생물학적 샘플로부터 포유동물의 저인산혈성 질환을 진단하기 위한 키트.
- 제44항에 있어서, 상기 저인산혈성 질환이 상염색체 우성 저인산혈성 구루병 (ADHR)인 키트.
- 제44항에 있어서, 상기 생물학적 샘플이 혈액 및 소변으로 이루어진 군으로부터 선택되는 것인 키트.
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- 제44항에 있어서, 상기 핵산이 검출가능하게 표지된 것인 키트.
- 제44항에 있어서, 상기 핵산이 방사성동위원소, 생물발광 화합물, 화학발광 화합물, 형광 화합물, 금속 킬레이트 및 효소로 이루어진 군으로부터 선택되는 표지로 검출가능하게 표지된 것인 키트.
- 서열 2 또는 서열 4의 아미노산 서열을 갖는 섬유아세포 성장 인자-23(FGF23)에 대한 항체, 및 사용지침을 포함하는, 포유동물의 생물학적 샘플로부터 포유동물의 저인산혈성 질환을 진단하기 위한 키트.
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- 제50항에 있어서, 상기 생물학적 샘플이 혈액 및 소변으로 이루어진 군으로부터 선택되는 것인 키트.
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- 제50항에 있어서, 상기 저인산혈성 질환이 X-연관 유전성 구루병 (XLH), 유전성 저인산혈성 구루병 (HHRH), 저인산혈성 골 질환 (HBD), 상염색체 우성 저인산혈성 구루병 (ADHR), 종양 유도성 골연화증, 표피 모반 증후군, 섬유성 이형성증 또는 신결석증인 키트.
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- 제50항에 있어서, 상기 항체가 검출가능하게 표지된 것인 키트.
- 제50항에 있어서, 상기 항체가 방사성동위원소, 생물발광 화합물, 화학발광 화합물, 형광 화합물, 금속 킬레이트 및 효소로 이루어진 군으로부터 선택되는 표지로 검출가능하게 표지된 것인 키트.
- 제55항에 있어서, 상기 저인산혈성 질환이 종양 유도성 골연화증인 키트.
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- 서열 2의 아미노산 176(아르기닌)을 코딩하는 핵산에서의 돌연변이 및 서열 2의 아미노산 179(아르기닌)를 코딩하는 핵산에서의 돌연변이로 이루어진 군으로부터 선택되는 돌연변이를 갖는 제1항에 따른 핵산의 돌연변이체.
- 제82항에 있어서, 상기 돌연변이가 서열 1에 있어서 527 위치의 G가 A로 치환된 돌연변이(527G>A), 535 위치의 C가 T로 치환된 돌연변이(535C>T) 및 536 위치의 G가 A로 치환된 돌연변이(536G>A)로 이루어진 군으로부터 선택되는 것인 돌연변이체.
- 섬유아세포 성장 인자-23(FGF23)을 코딩하는 서열 1 또는 서열 3의 핵산에 상보적인 핵산을 포함하는, 포유동물의 생물학적 샘플로부터 포유동물의 저인산혈성 질환을 진단하기 위한 진단용 조성물.
- 제84항에 있어서, 상기 저인산혈성 질환이 상염색체 우성 저인산혈성 구루병 (ADHR)인 진단용 조성물.
- 제84항에 있어서, 상기 생물학적 샘플이 혈액 및 소변으로 이루어진 군으로부터 선택되는 것인 진단용 조성물.
- 제84항에 있어서, 상기 핵산이 검출가능하게 표지된 것인 진단용 조성물.
- 제84항에 있어서, 상기 핵산이 방사성동위원소, 생물발광 화합물, 화학발광 화합물, 형광 화합물, 금속 킬레이트 및 효소로 이루어진 군으로부터 선택되는 표지로 검출가능하게 표지된 것인 진단용 조성물.
- 서열 2 또는 서열 4의 아미노산 서열을 갖는 섬유아세포 성장 인자-23(FGF23)에 대한 항체를 포함하는, 포유동물의 생물학적 샘플로부터 포유동물의 저인산혈성 질환을 진단하기 위한 진단용 조성물.
- 제89항에 있어서, 상기 생물학적 샘플이 혈액 및 소변으로 이루어진 군으로부터 선택되는 것인 진단용 조성물.
- 제89항에 있어서, 상기 저인산혈성 질환이 X-연관 유전성 구루병 (XLH), 유전성 저인산혈성 구루병 (HHRH), 저인산혈성 골 질환 (HBD), 상염색체 우성 저인산혈성 구루병 (ADHR), 종양 유도성 골연화증, 표피 모반 증후군, 섬유성 이형성증 또는 신결석증인 진단용 조성물.
- 제89항에 있어서, 상기 항체가 검출가능하게 표지된 것인 진단용 조성물.
- 제89항에 있어서, 상기 항체가 방사성동위원소, 생물발광 화합물, 화학발광 화합물, 형광 화합물, 금속 킬레이트 및 효소로 이루어진 군으로부터 선택되는 표지로 검출가능하게 표지된 것인 진단용 조성물.
- 제91항에 있어서, 상기 저인산혈성 질환이 종양 유도성 골연화증인 진단용 조성물.
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US21913700P | 2000-07-19 | 2000-07-19 | |
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PCT/US2001/021738 WO2002008271A1 (en) | 2000-07-19 | 2001-07-10 | Novel fibroblast growth factor (fgf23) and methods for use |
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KR1020037000821A KR100924183B1 (ko) | 2000-07-19 | 2003-01-18 | 신규 섬유아세포 성장 인자 (fgf23) 및 그의 이용 방법 |
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US20020137890A1 (en) * | 1997-03-31 | 2002-09-26 | Genentech, Inc. | Secreted and transmembrane polypeptides and nucleic acids encoding the same |
US20060160181A1 (en) * | 2000-02-15 | 2006-07-20 | Amgen Inc. | Fibroblast Growth Factor-23 molecules and uses thereof |
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CN1446227B (zh) | 2011-10-05 |
EP1303536B1 (en) | 2010-03-17 |
AU7332301A (en) | 2002-02-05 |
US20090311792A1 (en) | 2009-12-17 |
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US7314618B2 (en) | 2008-01-01 |
EP1303536A1 (en) | 2003-04-23 |
US20020156001A1 (en) | 2002-10-24 |
US20080241946A1 (en) | 2008-10-02 |
KR20030029111A (ko) | 2003-04-11 |
EP2184296A1 (en) | 2010-05-12 |
ES2340662T3 (es) | 2010-06-08 |
ATE461213T1 (de) | 2010-04-15 |
US20030181379A1 (en) | 2003-09-25 |
JP2004504063A (ja) | 2004-02-12 |
CN1446227A (zh) | 2003-10-01 |
CA2418215A1 (en) | 2002-01-31 |
EP1303536A4 (en) | 2005-01-05 |
US7223563B2 (en) | 2007-05-29 |
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