CHD7
CHD7
크로모도메인-헬리카아제-DNA결합단백질7은 ATP 의존 헬리카아제 CHD7로도 알려져 있으며, 인간에서 CHD7 유전자에 의해 인코딩되는 효소다.[5][6]
CHD7은 Drosophila triithorax-group 단백질 Kismet과 동일한 ATP 의존성 크로마틴 리모델링제다.[7]CHD7의 돌연변이는 차지 증후군과 관련이 있다.[8]이 단백질은 ATP 의존성 크로마틴 리모델링 복합체 집단인 CHD 하위 계열에 속한다.
모형 유기체
Chd7 녹아웃 마우스 표현형| 특성 | 표현형 |
|---|---|
| 호모지고테 생존 가능성 | 비정상적 |
| 열성 치사 연구 | 비정상적 |
| 다산성 | 정상 |
| 체중 | 정상 |
| 불안 | 정상 |
| 신경학적 평가 | 비정상적[9] |
| 그립 강도 | 정상 |
| 핫 플레이트 | 정상 |
| 이형학 | 정상 |
| 간접열량측정법 | 정상 |
| 포도당 공차 검정 | 정상 |
| 청각 뇌계 반응 | 정상 |
| 덱사 | 정상 |
| 방사선 촬영 | 정상[10] |
| 체온 | 정상 |
| 눈 형태학 | 비정상적[11] |
| 임상화학 | 정상 |
| 혈액학 | 정상 |
| 말초혈액 림프구 | 정상 |
| 미크론 핵 실험 | 정상 |
| 심장 무게 | 정상 |
| 뇌 조직병리학 | 비정상적 |
| 살모넬라균 감염 | 정상[12] |
| 시트로박터 감염 | 정상[13] |
| 다음에서[14][15] 모든 테스트 및 분석 |
모델 유기체는 CHD7 기능 연구에 사용되어 왔다.Chd7이라고tm2a(EUCOMM)Wtsi[16][17] 불리는 조건부 녹아웃 마우스 라인은 국제 Kockout Mouse Consortium 프로그램의 일부로 생성되었는데, 이것은 관심 있는 과학자들에게 질병의 동물 모델을 생성하여 배포하는 고투과 돌연변이 유발 프로젝트의 일환이다.[18][19][20]
수컷과 암컷은 삭제 효과를 판단하기 위해 표준화된 표현식 화면을 거쳤다.[14][21]돌연변이 생쥐에 대한 24번의 테스트를 실시했고 5번의 심각한 이상이 관찰되었다.[14]임신 중에는 동란 돌연변이 배아가 발견되지 않았으며, 따라서 젖을 떼기 전까지 생존한 배아는 없다.나머지 테스트는 이질 돌연변이 성인 쥐를 대상으로 실시됐다.남성 이질체는 변형된 SHIMPA 검사에서 비정상적인 골반 고도를 보였으며 양쪽 눈에서 버그마이스터의 파피야 발생률이 높다.이질성 동물의 뇌를 연구했을 때, 말뭉치의 부재가 관찰되었다.[14]
임상적
이 유전자의 돌연변이는 차지 증후군과 연관되어 있다.
참조
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- ^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000041235 - 앙상블, 2017년 5월
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외부 링크
- CHD7+단백질,+인간 미국 국립 의학 도서관의 의학 과목 제목(MSH)
- UCSC 게놈 브라우저의 인간 CHD7 유전체 위치 및 CHD7 유전자 세부 정보 페이지.
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