Abstract
Mice have been widely used as a model organism to investigate human gene-phenotype relationships based on a conjecture that orthologous genes generally perform similar functions and are associated with similar phenotypes. However, phenotypes associated with orthologous genes often turn out to be quite different between human and mouse. Herein, we devised a method to quantitatively compare phenotypes annotations associated with mouse models and human. Using semantic similarity comparisons, we identified orthologous genes with different phenotype annotations, of which the similarity score is on a par with that of random gene pairs. Analysis of sequence evolution and transcriptomic changes revealed that orthologous genes with phenotypic differences are correlated with changes in non-coding regulatory elements and tissue-specific expression profiles rather than changes in protein-coding sequences. To map accurate gene-phenotype relationships using model organisms, we propose that careful consideration of the evolutionary divergence of non-coding regulatory elements and transcriptomic profiles is essential.

Keywords: Gene-phenotype relationship, Mouse model, Orthologous gene, non-coding regulatory element, transcriptomic profile

[다온비에스] Visium Spatial Gene Expression 조직의 위치별로 발현되는 모든 유전자 정보를 확인하세요~

[머크] 항체 배송 서비스에 가입하시고, 추가 가격 혜택까지 받아보세요.

[라이카코리아] Leica SP8 FALCON - 실시간 형광 라이프타임 이미징으로 세포역학 조사

[국립암센터 국제암대학원대학교] 2020 수시 신입생 모집 석사 및 박사 과정생 - 원서접수: 2020.3.16 ~ 4.17

[이화여자대학교] 제약산업학과 2020학년도 후기 신입생 모집 - 원서접수: 2020.04.13 ~ 04.21

[써모피셔사이언티픽] 오늘부터 리라밸! 연구와 생활의 즐거운 밸런스~

[Cyagen] 코로나바이러스 수용체 ACE2 마우스 모델 - KO, Humanized, Kl

[진스크립트] Gene Synthesis! 4월 한달간 20% OFF