호모 사피엔스 종의 단백질 코드 유전자
AHI1(Abelson Helper Integration Site 1)은 뇌 [1] 발달에 중요 한 역할을 하는 것으로 알려진 단백질 코드 유전자 이다.인간 의 뇌에서 적절한 소뇌와 피질 발달은 AHI1에 크게 의존한다.AHI1 유전자는 배아 후뇌 와 [1] 전뇌 에서 두드러지게 발현된다. AHI1은 Jouberin 단백질을 특이하게 암호화하고 유전자 발현에서의 돌연변이는 Joubert 증후군의 특정 형태를 유발하는 것으로 알려져 있다. 주버트 증후군은 상염색체 열성이며 AHI1 돌연변이가 유도할 [2] 정신지체 로 특징지어진다. AHI1은 또한 정신분열증과 자폐증 과 관련이 있는데, 이는 AHI1이 두뇌 [3] AHI1 발현 변화와 신경정신 질환의 병리 형성 사이의 상관관계를 설명하기 위해 예루살렘 의 Hadassah Medical Center에서 Bernard Lererer와 그의 그룹에 의해 AHI1 헤테로 접합 녹아웃 마우스 모델이 연구되었다. 환경 및 내장 스트레스에 노출된 후 헤테로 접합 녹아웃 생쥐의 핵심 온도 와 코르티코스테론 분비는 자율신경계 의 극단적인 억제와 시상하부-하수체-부신 반응을 보였다.녹아웃 마우스는 다양한 종류의 스트레스에 대한 회복력을 높였고 이러한 결과는 감정 조절과 신경정신 질환 [3]
Jouberin 은 AHI1 유전자에 [8] [9] [10] 단백질 이다.
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